| Year |
Citation |
Score |
| 2022 |
Domènech L, Willis J, Alemany-Navarro M, Morell M, Real E, Escaramís G, Bertolín S, Sánchez Chinchilla D, Balcells S, Segalàs C, Estivill X, Menchón JM, Gabaldón T, Alonso P, Rabionet R. Changes in the stool and oropharyngeal microbiome in obsessive-compulsive disorder. Scientific Reports. 12: 1448. PMID 35087123 DOI: 10.1038/s41598-022-05480-9 |
0.598 |
|
| 2021 |
Susak H, Serra-Saurina L, Demidov G, Rabionet R, Domènech L, Bosio M, Muyas F, Estivill X, Escaramís G, Ossowski S. Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation. Plos Computational Biology. 17: e1007784. PMID 33606672 DOI: 10.1371/journal.pcbi.1007784 |
0.63 |
|
| 2020 |
Martín-Nalda A, Fortuny C, Rey L, Bunney TD, Alsina L, Esteve-Solé A, Bull D, Anton MC, Basagaña M, Casals F, Deyá A, García-Prat M, Gimeno R, Juan M, Martinez-Banaclocha H, ... ... Estivill X, et al. Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations. Journal of Clinical Immunology. PMID 32671674 DOI: 10.1007/S10875-020-00794-7 |
0.649 |
|
| 2020 |
Munn-Chernoff MA, Johnson EC, Chou YL, Coleman JRI, Thornton LM, Walters RK, Yilmaz Z, Baker JH, Hübel C, Gordon S, Medland SE, Watson HJ, Gaspar HA, Bryois J, Hinney A, ... ... Estivill X, et al. Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies. Addiction Biology. e12880. PMID 32064741 DOI: 10.1111/Adb.12880 |
0.778 |
|
| 2019 |
Steyn A, Crowther NJ, Norris SA, Rabionet R, Estivill X, Ramsay M. Epigenetic modification of the pentose phosphate pathway and the IGF-axis in women with gestational diabetes mellitus. Epigenomics. PMID 31583916 DOI: 10.2217/Epi-2018-0206 |
0.609 |
|
| 2019 |
Watson HJ, Yilmaz Z, Thornton LM, Hübel C, Coleman JRI, Gaspar HA, Bryois J, Hinney A, Leppä VM, Mattheisen M, Medland SE, Ripke S, Yao S, Giusti-Rodríguez P, ... ... Estivill X, et al. Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa. Nature Genetics. PMID 31308545 DOI: 10.1038/s41588-019-0439-2 |
0.78 |
|
| 2019 |
Bosio M, Drechsel O, Rahman R, Muyas F, Rabionet R, Bezdan D, Domenech Salgado L, Hor HG, Schott JJ, Munell F, Colobran R, Macaya A, Estivill X, Ossowski S. eDiVA - Classification and Prioritization of Pathogenic Variants for Clinical Diagnostics. Human Mutation. PMID 31026367 DOI: 10.1002/Humu.23772 |
0.657 |
|
| 2019 |
Rabionet R, Remesal A, Mensa-Vilaró A, Murías S, Alcobendas R, González-Roca E, Ruiz-Ortiz E, Antón J, Iglesias E, Modesto C, Comas D, Puig A, Drechsel O, Ossowski S, Yagüe J, ... ... Estivill X, et al. Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis. Scientific Reports. 9: 4579. PMID 30872671 DOI: 10.1038/S41598-019-40874-2 |
0.66 |
|
| 2019 |
Tziotzios C, Petridis C, Dand N, Ainali C, Saklatvala JR, Pullabhatla V, Onoufriadis A, Pramanik R, Baudry D, Lee SH, Wood K, Liu L, Seegobin S, Michelotti GA, Lwin SM, ... ... Estivill X, et al. Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02. Nature Communications. 10: 1150. PMID 30850646 DOI: 10.1038/S41467-019-09117-W |
0.348 |
|
| 2019 |
Frost J, Estivill X, Ramsay M, Tikly M. Dysregulation of the Wnt signaling pathway in South African patients with diffuse systemic sclerosis. Clinical Rheumatology. 38: 933-938. PMID 30238381 DOI: 10.1007/S10067-018-4298-5 |
0.33 |
|
| 2019 |
Rabionet R, Domenech L, Willis J, Alemany M, Real E, Segalàs C, Estivill X, Menchón JM, Gabaldón T, Alonso P. S64CHANGES IN THE STOOL AND OROPHARYNGEAL MICROBIOME IN OBSESSIVE-COMPULSIVE DISORDER European Neuropsychopharmacology. 29: S147. DOI: 10.1016/J.Euroneuro.2019.08.065 |
0.591 |
|
| 2018 |
Mola-Caminal M, Carrera C, Soriano-Tárraga C, Giralt Steinhauer E, Diaz-Navarro RM, Tur S, Jiménez C, Medina-Dols A, Cullell N, Torres-Aguila NP, Muiño E, Rodri Guez-Campello A, Ois A, Cuadrado-Godia E, Vivanco-Hidalgo RM, ... ... Estivill X, et al. PATJ Low Frequency Variants Are Associated with Worse Ischemic Stroke Functional Outcome: A Genome-Wide Meta-Analysis. Circulation Research. PMID 30582445 DOI: 10.1161/Circresaha.118.313533 |
0.589 |
|
| 2018 |
Muyas F, Bosio M, Puig A, Susak H, Domènech-Salgado L, Escaramis G, Zapata L, Demidov G, Estivill X, Rabionet R, Ossowski S. Allele balance bias identifies systematic genotyping errors and false disease associations. Human Mutation. PMID 30353964 DOI: 10.1002/Humu.23674 |
0.622 |
|
| 2017 |
Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, Brookes AJ, Brudno M, Carracedo A, den Dunnen JT, Dyke SOM, Estivill X, Goldblatt J, Gonthier C, Groft SC, et al. International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases. American Journal of Human Genetics. 100: 695-705. PMID 28475856 DOI: 10.1016/J.Ajhg.2017.04.003 |
0.319 |
|
| 2017 |
Yilmaz Z, Szatkiewicz JP, Crowley JJ, Ancalade N, Brandys MK, van Elburg A, de Kovel CG, Adan RA, Hinney A, Hebebrand J, Gratacos M, Fernandez-Aranda F, Escaramis G, Gonzalez JR, Estivill X, et al. Exploration of large, rare copy number variants associated with psychiatric and neurodevelopmental disorders in individuals with anorexia nervosa. Psychiatric Genetics. PMID 28368970 DOI: 10.1097/Ypg.0000000000000172 |
0.345 |
|
| 2016 |
Ombrello MJ, Arthur VL, Remmers EF, Hinks A, Tachmazidou I, Grom AA, Foell D, Martini A, Gattorno M, Özen S, Prahalad S, Zeft AS, Bohnsack JF, Ilowite NT, Mellins ED, ... ... Estivill X, et al. Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications. Annals of the Rheumatic Diseases. PMID 27927641 DOI: 10.1136/Annrheumdis-2016-210324 |
0.721 |
|
| 2016 |
Bustamante M, Standl M, Bassat Q, Vilor-Tejedor N, Medina-Gomez C, Bonilla C, Ahluwalia TS, Bacelis J, Bradfield JP, Tiesler CM, Rivadeneira F, Ring S, Vissing NH, Fink NR, Jugessur A, ... ... Estivill X, et al. A genome-wide association meta-analysis of diarrhoeal disease in young children identifies FUT2 locus and provides plausible biological pathways. Human Molecular Genetics. PMID 27559109 DOI: 10.1093/Hmg/Ddw264 |
0.337 |
|
| 2016 |
Prasad A, Rabionet R, Espinet B, Zapata L, Puiggros A, Melero C, Puig A, Sarria-Trujillo Y, Ossowski S, Garcia-Muret MP, Estrach T, Servitje O, Lopez-Lerma I, Gallardo F, Pujol RM, ... Estivill X, et al. Identification of gene mutations and fusion genes in patients with Sézary Syndrome. The Journal of Investigative Dermatology. PMID 27039262 DOI: 10.1016/J.Jid.2016.03.024 |
0.662 |
|
| 2016 |
Costas J, Carrera N, Alonso P, Gurriarán X, Segalàs C, Real E, López-Solà C, Mas S, Gassó P, Domènech L, Morell M, Quintela I, Lázaro L, Menchón JM, Estivill X, et al. Exon-focused genome-wide association study of obsessive-compulsive disorder and shared polygenic risk with schizophrenia Translational Psychiatry. 6. PMID 27023174 DOI: 10.1038/Tp.2016.34 |
0.31 |
|
| 2015 |
Ombrello MJ, Remmers EF, Tachmazidou I, Grom A, Foell D, Haas JP, Martini A, Gattorno M, Özen S, Prahalad S, Zeft AS, Bohnsack JF, Mellins ED, Ilowite NT, Russo R, ... ... Estivill X, et al. HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis. Proceedings of the National Academy of Sciences of the United States of America. PMID 26598658 DOI: 10.1073/Pnas.1520779112 |
0.73 |
|
| 2015 |
Hor H, Francescatto L, Bartesaghi L, Ortega-Cubero S, Kousi M, Lorenzo-Betancor O, Jiménez-Jiménez FJ, Gironell A, Clarimón J, Drechsel O, Agúndez JA, Kenzelmann Broz D, Chiquet-Ehrismann R, Lleó A, Coria F, ... ... Estivill X, et al. Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor. Human Molecular Genetics. 24: 5677-86. PMID 26188006 DOI: 10.1093/Hmg/Ddv281 |
0.36 |
|
| 2015 |
Estivill X. Genetic variation and alternative splicing. Nature Biotechnology. 33: 357-9. PMID 25850059 DOI: 10.1038/Nbt.3195 |
0.327 |
|
| 2015 |
Bullich G, Trujillano D, Santín S, Ossowski S, Mendizábal S, Fraga G, Madrid Á, Ariceta G, Ballarín J, Torra R, Estivill X, Ars E. Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity. European Journal of Human Genetics : Ejhg. 23: 1192-9. PMID 25407002 DOI: 10.1038/Ejhg.2014.252 |
0.314 |
|
| 2015 |
van der Valk RJ, Kreiner-Møller E, Kooijman MN, Guxens M, Stergiakouli E, Sääf A, Bradfield JP, Geller F, Hayes MG, Cousminer DL, Körner A, Thiering E, Curtin JA, Myhre R, Huikari V, ... ... Estivill X, et al. A novel common variant in DCST2 is associated with length in early life and height in adulthood. Human Molecular Genetics. 24: 1155-68. PMID 25281659 DOI: 10.1093/Hmg/Ddu510 |
0.317 |
|
| 2015 |
Almirall M, Docampo E, Estivill X, Maymó J. Genetic characteristics of rheumatic patients developing inflammatory skin lesions induced by biologic therapy. Reumatologia Clinica. 11: 126-7. PMID 25218411 DOI: 10.1016/J.Reumae.2014.07.009 |
0.706 |
|
| 2015 |
Frost JM, Tikly M, Ramsay M, Estivill X, Rabionet K. THU0012 Observing Dysregulation of Signal Transduction Genes in the WNT Pathway Using two Methods Annals of the Rheumatic Diseases. 74: 197-197. DOI: 10.1136/Annrheumdis-2015-Eular.4452 |
0.307 |
|
| 2015 |
Rimbert A, Kyndt F, Lecointe S, Scouarnec SL, Estivill X, Trujillano D, Cueff C, Hagege AA, Mérot J, Marec HL, Jeune-maitre X, Tourneau TL, Bouatia-Naji N, Schott J. 0077 : DOCK1 a new candidate gene in inherited form of mitral valve prolapse Archives of Cardiovascular Diseases Supplements. 7: 205. DOI: 10.1016/S1878-6480(15)30201-9 |
0.357 |
|
| 2015 |
Alonso P, Carracedo A, López-Solà C, Estivill X, Segalàs C, Real E, Cardoner N, Subirà M, Menchón JM, Soriano-Mas C. Multilocus Genetic Profile for Glutamatergic Pathway and Frontostriatal Connectivity in Obsessive-compulsive Disorder European Psychiatry. 30: 188. DOI: 10.1016/S0924-9338(15)31851-4 |
0.323 |
|
| 2015 |
Schott JJ, Rimbert A, Duval D, Kyndt F, Trujillano D, Tucker N, Baufreton C, Norris R, Bruneval P, Estivill X, Levine RA, Milan D, Le Marec H, Mérot J, Le Tourneau T. OP-071 Mutations in ARHGAP24 Encoding Filgap as a Cause of Mitral Valve Prolapse The American Journal of Cardiology. 115: S31. DOI: 10.1016/J.Amjcard.2015.01.117 |
0.303 |
|
| 2014 |
Trujillano D, Bullich G, Ossowski S, Ballarín J, Torra R, Estivill X, Ars E. Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing. Molecular Genetics & Genomic Medicine. 2: 412-21. PMID 25333066 DOI: 10.1002/Mgg3.82 |
0.372 |
|
| 2014 |
Docampo E, EscaramÃs G, Gratacòs M, Villatoro S, Puig A, Kogevinas M, Collado A, Carbonell J, Rivera J, Vidal J, Alegre J, Estivill X, Rabionet R. Genome-wide analysis of single nucleotide polymorphisms and copy number variants in fibromyalgia suggest a role for the central nervous system. Pain. 155: 1102-9. PMID 24582949 DOI: 10.1016/J.Pain.2014.02.016 |
0.793 |
|
| 2013 |
Palacín M, Mora C, Chillarón J, Calonge MJ, Estévez R, Torrents D, Testar X, Zorzano A, Nunes V, Purroy J, Estivill X, Gasparini P, Bisceglia L, Zelante L. The molecular basis of cystinuria: the role of the rBAT gene. Amino Acids. 11: 225-46. PMID 24178689 DOI: 10.1007/Bf00813862 |
0.366 |
|
| 2013 |
Docampo E, Collado A, EscaramÃs G, Carbonell J, Rivera J, Vidal J, Alegre J, Rabionet R, Estivill X. Cluster analysis of clinical data identifies fibromyalgia subgroups. Plos One. 8: e74873. PMID 24098674 DOI: 10.1371/Journal.Pone.0074873 |
0.758 |
|
| 2013 |
Lappalainen T, Sammeth M, Friedländer MR, 't Hoen PA, Monlong J, Rivas MA, Gonzà lez-Porta M, Kurbatova N, Griebel T, Ferreira PG, Barann M, Wieland T, Greger L, van Iterson M, Almlöf J, ... ... Estivill X, et al. Transcriptome and genome sequencing uncovers functional variation in humans. Nature. 501: 506-11. PMID 24037378 DOI: 10.1038/Nature12531 |
0.331 |
|
| 2013 |
Aigner J, Villatoro S, Rabionet R, Roquer J, Jiménez-Conde J, Martí E, Estivill X. A common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like protein. Bmc Genetics. 14: 61. PMID 23829304 DOI: 10.1186/1471-2156-14-61 |
0.621 |
|
| 2013 |
Alvarez-Mora MI, Rodriguez-Revenga L, Madrigal I, Torres-Silva F, Mateu-Huertas E, Lizano E, Friedländer MR, Martà E, Estivill X, Milà M. MicroRNA expression profiling in blood from fragile X-associated tremor/ataxia syndrome patients. Genes, Brain, and Behavior. 12: 595-603. PMID 23790110 DOI: 10.1111/Gbb.12061 |
0.302 |
|
| 2013 |
Sailani MR, Makrythanasis P, Valsesia A, Santoni FA, Deutsch S, Popadin K, Borel C, Migliavacca E, Sharp AJ, Duriaux Sail G, Falconnet E, Rabionet K, Serra-Juhé C, Vicari S, Laux D, ... ... Estivill X, et al. The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome. Genome Research. 23: 1410-21. PMID 23783273 DOI: 10.1101/Gr.147991.112 |
0.364 |
|
| 2013 |
Escaramís G, Tornador C, Bassaganyas L, Rabionet R, Tubio JM, Martínez-Fundichely A, Cáceres M, Gut M, Ossowski S, Estivill X. PeSV-Fisher: identification of somatic and non-somatic structural variants using next generation sequencing data. Plos One. 8: e63377. PMID 23704902 DOI: 10.1371/Journal.Pone.0063377 |
0.631 |
|
| 2013 |
Trujillano D, Ramos MD, González J, Tornador C, Sotillo F, Escaramis G, Ossowski S, Armengol L, Casals T, Estivill X. Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR. Journal of Medical Genetics. 50: 455-62. PMID 23687349 DOI: 10.1136/Jmedgenet-2013-101602 |
0.336 |
|
| 2013 |
Alonso P, López-Solà C, Gratacós M, Fullana MA, Segalàs C, Real E, Cardoner N, Soriano-Mas C, Harrison BJ, Estivill X, Menchón JM. The interaction between Comt and Bdnf variants influences obsessive-compulsive-related dysfunctional beliefs. Journal of Anxiety Disorders. 27: 321-7. PMID 23602946 DOI: 10.1016/J.Janxdis.2013.02.012 |
0.345 |
|
| 2013 |
Bassaganyas L, Riveira-Muñoz E, García-Aragonés M, González JR, Cáceres M, Armengol L, Estivill X. Worldwide population distribution of the common LCE3C-LCE3B deletion associated with psoriasis and other autoimmune disorders. Bmc Genomics. 14: 261. PMID 23594316 DOI: 10.1186/1471-2164-14-261 |
0.398 |
|
| 2013 |
Esko T, Mezzavilla M, Nelis M, Borel C, Debniak T, Jakkula E, Julia A, Karachanak S, Khrunin A, Kisfali P, Krulisova V, Aušrelé Ku?inskiené Z, Rehnström K, Traglia M, Nikitina-Zake L, ... ... Estivill X, et al. Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity. European Journal of Human Genetics : Ejhg. 21: 659-65. PMID 23249956 DOI: 10.1038/Ejhg.2012.229 |
0.306 |
|
| 2013 |
Horikoshi M, Yaghootkar H, Mook-Kanamori DO, Sovio U, Taal HR, Hennig BJ, Bradfield JP, St Pourcain B, Evans DM, Charoen P, Kaakinen M, Cousminer DL, Lehtimäki T, Kreiner-Møller E, Warrington NM, ... ... Estivill X, et al. New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism. Nature Genetics. 45: 76-82. PMID 23202124 DOI: 10.1038/Ng.2477 |
0.301 |
|
| 2013 |
Rodriguez-Revenga L, Madrigal I, Blanch-Rubió J, Elurbe DM, Docampo E, Collado A, Vidal J, Carbonell J, Estivill X, Mila M. Screening for the presence of FMR1 premutation alleles in women with fibromyalgia. Gene. 512: 305-8. PMID 23111161 DOI: 10.1016/J.Gene.2012.10.016 |
0.724 |
|
| 2013 |
Real E, Gratacòs M, Labad J, Alonso P, EscaramÃs G, Segalà s C, Subirà M, López-Solà C, Estivill X, Menchón JM. Interaction of SLC1A1 gene variants and life stress on pharmacological resistance in obsessive-compulsive disorder. The Pharmacogenomics Journal. 13: 470-5. PMID 22776887 DOI: 10.1038/Tpj.2012.30 |
0.327 |
|
| 2013 |
Docampo E, Escaramis G, Rabionet R, Carbonell J, Rivera J, Alegre J, Vidal J, Estivill X, Collado A. OP0067 Cluster analysis of clinical data identifies fibromyalgia subgroups Annals of the Rheumatic Diseases. 71: 76.1-76. DOI: 10.1136/Annrheumdis-2012-Eular.1750 |
0.764 |
|
| 2012 |
Tsoi LC, Spain SL, Knight J, Ellinghaus E, Stuart PE, Capon F, Ding J, Li Y, Tejasvi T, Gudjonsson JE, Kang HM, Allen MH, McManus R, Novelli G, Samuelsson L, ... ... Estivill X, et al. Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. Nature Genetics. 44: 1341-8. PMID 23143594 DOI: 10.1038/Ng.2467 |
0.355 |
|
| 2012 |
Docampo E, Ribasés M, Gratacòs M, Bruguera E, Cabezas C, Sánchez-Mora C, Nieva G, Puente D, Argimon-Pallàs JM, Casas M, Rabionet R, Estivill X. Association of neurexin 3 polymorphisms with smoking behavior. Genes, Brain, and Behavior. 11: 704-11. PMID 22716474 DOI: 10.1111/J.1601-183X.2012.00815.X |
0.776 |
|
| 2012 |
Bustamante M, Danileviciute A, Espinosa A, Gonzalez JR, Subirana I, Cordier S, Chevrier C, Chatzi L, Grazuleviciene R, Sunyer J, Ibarluzea J, Ballester F, Villanueva CM, Nieuwenhuijsen M, Estivill X, et al. Influence of fetal glutathione S-transferase copy number variants on adverse reproductive outcomes. Bjog : An International Journal of Obstetrics and Gynaecology. 119: 1141-6. PMID 22676722 DOI: 10.1111/J.1471-0528.2012.03400.X |
0.313 |
|
| 2012 |
Taal HR, St Pourcain B, Thiering E, Das S, Mook-Kanamori DO, Warrington NM, Kaakinen M, Kreiner-Møller E, Bradfield JP, Freathy RM, Geller F, Guxens M, Cousminer DL, Kerkhof M, Timpson NJ, ... ... Estivill X, et al. Common variants at 12q15 and 12q24 are associated with infant head circumference. Nature Genetics. 44: 532-8. PMID 22504419 DOI: 10.1038/Ng.2238 |
0.32 |
|
| 2012 |
Alonso P, Gratacós M, Segalà s C, EscaramÃs G, Real E, Bayés M, Labad J, López-Solà C, Estivill X, Menchón JM. Association between the NMDA glutamate receptor GRIN2B gene and obsessive-compulsive disorder. Journal of Psychiatry & Neuroscience : Jpn. 37: 273-81. PMID 22433450 DOI: 10.1503/Jpn.110109 |
0.308 |
|
| 2012 |
Louis-Dit-Picard H, Barc J, Trujillano D, Miserey-Lenkei S, Bouatia-Naji N, Pylypenko O, Beaurain G, Bonnefond A, Sand O, Simian C, Vidal-Petiot E, Soukaseum C, Mandet C, Broux F, Chabre O, ... ... Estivill X, et al. KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron. Nature Genetics. 44: 456-60, S1-3. PMID 22406640 DOI: 10.1038/Ng.2218 |
0.343 |
|
| 2012 |
Bañez-Coronel M, Porta S, Kagerbauer B, Mateu-Huertas E, Pantano L, Ferrer I, Guzmán M, Estivill X, Martà E. A pathogenic mechanism in Huntington's disease involves small CAG-repeated RNAs with neurotoxic activity. Plos Genetics. 8: e1002481. PMID 22383888 DOI: 10.1371/Journal.Pgen.1002481 |
0.324 |
|
| 2012 |
Mercader JM, González JR, Lozano JJ, Bak M, Kauppinen S, Sumoy L, Dierssen M, Fernández-Aranda F, Visa J, Gratacòs M, Estivill X. Aberrant brain microRNA target and miRISC gene expression in the anx/anx anorexia mouse model. Gene. 497: 181-90. PMID 22310387 DOI: 10.1016/J.Gene.2012.01.057 |
0.32 |
|
| 2012 |
Quesada V, Conde L, Villamor N, Ordóñez GR, Jares P, Bassaganyas L, Ramsay AJ, Beà S, Pinyol M, MartÃnez-Trillos A, López-Guerra M, Colomer D, Navarro A, Baumann T, Aymerich M, ... ... Estivill X, et al. Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia. Nature Genetics. 44: 47-52. PMID 22158541 DOI: 10.1038/Ng.1032 |
0.415 |
|
| 2012 |
Louis-Dit-Picard H, Barc J, Trujillano D, Miserey-Lenkei S, Bouatia-Naji N, Pylypenko O, Beaurain G, Bonnefond A, Sand O, Simian C, Vidal-Petiot E, Soukaseum C, Mandet C, Broux F, Chabre O, ... ... Estivill X, et al. Erratum: KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron (Nature Genetics (2012) 44 (458-462)) Nature Genetics. 44. DOI: 10.1038/Ng0512-609 |
0.311 |
|
| 2011 |
Nicchia GP, Ficarella R, Rossi A, Giangreco I, Nicolotti O, Carotti A, Pisani F, Estivill X, Gasparini P, Svelto M, Frigeri A. D184E mutation in aquaporin-4 gene impairs water permeability and links to deafness. Neuroscience. 197: 80-88. PMID 21952128 DOI: 10.1016/J.Neuroscience.2011.09.023 |
0.335 |
|
| 2011 |
Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, Martinet D, Shen Y, Valsesia A, Beckmann ND, Thorleifsson G, Belfiore M, Bouquillon S, Campion D, de Leeuw N, ... ... Estivill X, et al. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature. 478: 97-102. PMID 21881559 DOI: 10.1038/Nature10406 |
0.346 |
|
| 2011 |
Puente XS, Pinyol M, Quesada V, Conde L, Ordóñez GR, Villamor N, Escaramis G, Jares P, Beà S, González-Díaz M, Bassaganyas L, Baumann T, Juan M, López-Guerra M, Colomer D, ... ... Estivill X, et al. Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia. Nature. 475: 101-5. PMID 21642962 DOI: 10.1038/Nature10113 |
0.405 |
|
| 2011 |
Miñones-Moyano E, Porta S, EscaramÃs G, Rabionet R, Iraola S, Kagerbauer B, Espinosa-Parrilla Y, Ferrer I, Estivill X, Martà E. MicroRNA profiling of Parkinson's disease brains identifies early downregulation of miR-34b/c which modulate mitochondrial function. Human Molecular Genetics. 20: 3067-78. PMID 21558425 DOI: 10.1093/Hmg/Ddr210 |
0.748 |
|
| 2011 |
Iraola-Guzmán S, Estivill X, Rabionet R. DNA methylation in neurodegenerative disorders: a missing link between genome and environment? Clinical Genetics. 80: 1-14. PMID 21542837 DOI: 10.1111/J.1399-0004.2011.01673.X |
0.619 |
|
| 2011 |
Docampo E, Giardina E, Riveira-Muñoz E, de Cid R, Escaramís G, Perricone C, Fernández-Sueiro JL, Maymó J, González-Gay MA, Blanco FJ, Hüffmeier U, Lisbona MP, Martín J, Carracedo A, Reis A, ... ... Estivill X, et al. Deletion of LCE3C and LCE3B is a susceptibility factor for psoriatic arthritis: a study in Spanish and Italian populations and meta-analysis. Arthritis and Rheumatism. 63: 1860-5. PMID 21400479 DOI: 10.1002/Art.30340 |
0.777 |
|
| 2011 |
Riveira-Munoz E, He SM, EscaramÃs G, Stuart PE, Hüffmeier U, Lee C, Kirby B, Oka A, Giardina E, Liao W, Bergboer J, Kainu K, de Cid R, Munkhbat B, Zeeuwen PL, ... ... Estivill X, et al. Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6. The Journal of Investigative Dermatology. 131: 1105-9. PMID 21107349 DOI: 10.1038/Jid.2010.350 |
0.334 |
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| 2011 |
Alonso P, Gratacòs M, Segalà s C, EscaramÃs G, Real E, Bayés M, Labad J, Pertusa A, Vallejo J, Estivill X, Menchón JM. Variants in estrogen receptor alpha gene are associated with phenotypical expression of obsessive-compulsive disorder. Psychoneuroendocrinology. 36: 473-83. PMID 20850223 DOI: 10.1016/J.Psyneuen.2010.07.022 |
0.381 |
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| 2010 |
Biffi A, Sonni A, Anderson CD, Kissela B, Jagiella JM, Schmidt H, Jimenez-Conde J, Hansen BM, Fernandez-Cadenas I, Cortellini L, Ayres A, Schwab K, Juchniewicz K, Urbanik A, Rost NS, ... ... Estivill X, et al. Variants at APOE influence risk of deep and lobar intracerebral hemorrhage. Annals of Neurology. 68: 934-43. PMID 21061402 DOI: 10.1002/Ana.22134 |
0.613 |
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| 2010 |
Strange A, Capon F, Spencer CC, Knight J, Weale ME, Allen MH, Barton A, Band G, Bellenguez C, Bergboer JG, Blackwell JM, Bramon E, Bumpstead SJ, Casas JP, ... ... Estivill X, et al. A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nature Genetics. 42: 985-90. PMID 20953190 DOI: 10.1038/Ng.694 |
0.332 |
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| 2010 |
Saus E, Soria V, Escaramís G, Crespo JM, Valero J, Gutiérrez-Zotes A, Martorell L, Vilella E, Menchón JM, Estivill X, Gratacòs M, Urretavizcaya M. A haplotype of glycogen synthase kinase 3β is associated with early onset of unipolar major depression. Genes, Brain and Behavior. 9: 799-807. PMID 20618448 DOI: 10.1111/J.1601-183X.2010.00617.X |
0.337 |
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| 2010 |
Fonseca F, Gratacòs M, Escaramís G, De Cid R, Martín-Santos R, Fernández-Espejo E, Estivill X, Torrens M. Response to methadone maintenance treatment is associated with the MYOCD and GRM6 genes. Molecular Diagnosis & Therapy. 14: 171-8. PMID 20560679 DOI: 10.1007/Bf03256370 |
0.326 |
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| 2010 |
Soria V, Martínez-Amorós E, Escaramís G, Valero J, Crespo JM, Gutiérrez-Zotes A, Bayés M, Martorell L, Vilella E, Estivill X, Menchón JM, Gratacòs M, Urretavizcaya M. Resequencing and association analysis of arylalkylamine N-acetyltransferase (AANAT) gene and its contribution to major depression susceptibility. Journal of Pineal Research. 49: 35-44. PMID 20459461 DOI: 10.1111/J.1600-079X.2010.00763.X |
0.349 |
|
| 2010 |
Saus E, Brunet A, Armengol L, Alonso P, Crespo JM, Fernández-Aranda F, Guitart M, MartÃn-Santos R, Menchón JM, Navinés R, Soria V, Torrens M, Urretavizcaya M, Vallès V, Gratacòs M, ... Estivill X, et al. Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients. Journal of Psychiatric Research. 44: 971-8. PMID 20398908 DOI: 10.1016/J.Jpsychires.2010.03.007 |
0.368 |
|
| 2010 |
Bergboer JG, Zeeuwen PL, Irvine AD, Weidinger S, Giardina E, Novelli G, Den Heijer M, Rodriguez E, Illig T, Riveira-Munoz E, Campbell LE, Tyson J, Dannhauser EN, O'Regan GM, Galli E, ... ... Estivill X, et al. Deletion of Late Cornified Envelope 3B and 3C genes is not associated with atopic dermatitis. The Journal of Investigative Dermatology. 130: 2057-61. PMID 20376060 DOI: 10.1038/Jid.2010.88 |
0.351 |
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| 2010 |
O'Roak BJ, Morgan TM, Fishman DO, Saus E, Alonso P, Gratacòs M, Estivill X, Teltsh O, Kohn Y, Kidd KK, Cho J, Lifton RP, State MW. Additional support for the association of SLITRK1 var321 and Tourette syndrome. Molecular Psychiatry. 15: 447-50. PMID 20351724 DOI: 10.1038/Mp.2009.105 |
0.403 |
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| 2010 |
Gratacòs M, EscaramÃs G, Bustamante M, Saus E, Agüera Z, Bayés M, Cellini E, de Cid R, Fernández-Aranda F, Forcano L, González JR, Gorwood P, Hebebrand J, Hinney A, Mercader JM, ... ... Estivill X, et al. Role of the neurotrophin network in eating disorders' subphenotypes: body mass index and age at onset of the disease. Journal of Psychiatric Research. 44: 834-40. PMID 20219210 DOI: 10.1016/J.Jpsychires.2010.01.009 |
0.338 |
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| 2010 |
Docampo E, Rabionet R, Riveira-Muñoz E, Escaramís G, Julià A, Marsal S, Martín JE, González-Gay MA, Balsa A, Raya E, Martín J, Estivill X. Deletion of the late cornified envelope genes, LCE3C and LCE3B, is associated with rheumatoid arthritis. Arthritis and Rheumatism. 62: 1246-51. PMID 20213803 DOI: 10.1002/Art.27381 |
0.787 |
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| 2010 |
Costas J, Gratacòs M, Escaramís G, Martín-Santos R, de Diego Y, Baca-García E, Canellas F, Estivill X, Guillamat R, Guitart M, Gutiérrez-Zotes A, García-Esteve L, Mayoral F, Moltó MD, Phillips C, et al. Association study of 44 candidate genes with depressive and anxiety symptoms in post-partum women. Journal of Psychiatric Research. 44: 717-24. PMID 20092830 DOI: 10.1016/J.Jpsychires.2009.12.012 |
0.302 |
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| 2010 |
Soria V, MartÃnez-Amorós E, EscaramÃs G, Valero J, Pérez-Egea R, GarcÃa C, Gutiérrez-Zotes A, Puigdemont D, Bayés M, Crespo JM, Martorell L, Vilella E, Labad A, Vallejo J, Pérez V, ... ... Estivill X, et al. Differential association of circadian genes with mood disorders: CRY1 and NPAS2 are associated with unipolar major depression and CLOCK and VIP with bipolar disorder. Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology. 35: 1279-89. PMID 20072116 DOI: 10.1038/Npp.2009.230 |
0.354 |
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| 2010 |
Hüffmeier U, Bergboer JG, Becker T, Armour JA, Traupe H, Estivill X, Riveira-Munoz E, Mössner R, Reich K, Kurrat W, Wienker TF, Schalkwijk J, Zeeuwen PL, Reis A. Replication of LCE3C-LCE3B CNV as a risk factor for psoriasis and analysis of interaction with other genetic risk factors. The Journal of Investigative Dermatology. 130: 979-84. PMID 20016497 DOI: 10.1038/Jid.2009.385 |
0.355 |
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| 2010 |
Castro-Giner F, de Cid R, Gonzalez JR, Jarvis D, Heinrich J, Janson C, Omenaas ER, Matheson MC, Pin I, Antó JM, Wjst M, Estivill X, Kogevinas M. Positionally cloned genes and age-specific effects in asthma and atopy: an international population-based cohort study (ECRHS). Thorax. 65: 124-31. PMID 19996348 DOI: 10.1136/Thx.2009.119628 |
0.313 |
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| 2010 |
de Cid R, Ramos MD, Aparisi L, García C, Mora J, Estivill X, Farré A, Casals T. Independent contribution of common CFTR variants to chronic pancreatitis. Pancreas. 39: 209-15. PMID 19812525 DOI: 10.1097/Mpa.0B013E3181Bab679 |
0.322 |
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| 2010 |
RodrÃguez-Santiago B, Brunet A, Sobrino B, Serra-Juhé C, Flores R, Armengol L, Vilella E, Gabau E, Guitart M, Guillamat R, Martorell L, Valero J, Gutiérrez-Zotes A, Labad A, Carracedo A, ... Estivill X, et al. Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia. Molecular Psychiatry. 15: 1023-33. PMID 19528963 DOI: 10.1038/Mp.2009.53 |
0.306 |
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| 2010 |
Hüffmeier U, Estivill X, Riveira-Munoz E, Traupe H, Wendler J, Lohmann J, Böhm B, Burkhardt H, Reis A. Deletion of LCE3C and LCE3B genes at PSORS4 does not contribute to susceptibility to psoriatic arthritis in German patients. Annals of the Rheumatic Diseases. 69: 876-8. PMID 19439430 DOI: 10.1136/Ard.2009.108951 |
0.396 |
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| 2010 |
Bosch N, Morell M, Ponsa I, Mercader JM, Armengol L, Estivill X. Correction: Nucleotide, Cytogenetic and Expression Impact of the Human Chromosome 8p23.1 Inversion Polymorphism. Plos One. 5. DOI: 10.1371/Annotation/F551Fde5-Fde4-4485-9E9D-C94Bd501A078 |
0.3 |
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| 2010 |
Nelis M, Esko T, Mägi R, Zimprich F, Zimprich A, Toncheva D, Karachanak S, Piskáčková T, Balaščák I, Peltonen L, Jakkula E, Rehnström K, Lathrop M, Heath S, Galan P, ... ... Estivill X, et al. Correction: Genetic Structure of Europeans: A View from the North–East. Plos One. 5. DOI: 10.1371/Annotation/2849E182-Aef5-4E2B-A5Ac-0B74B30E5F48 |
0.612 |
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| 2009 |
Brunet A, Armengol L, Heine D, Rosell J, GarcÃa-Aragonés M, Gabau E, Estivill X, Guitart M. BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1. Bmc Medical Genetics. 10: 144. PMID 20030804 DOI: 10.1186/1471-2350-10-144 |
0.309 |
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| 2009 |
Bosch N, Morell M, Ponsa I, Mercader JM, Armengol L, Estivill X. Nucleotide, Cytogenetic and Expression Impact of the Human Chromosome 8p23.1 Inversion Polymorphism Plos One. 4. PMID 20011547 DOI: 10.1371/Journal.Pone.0008269 |
0.337 |
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| 2009 |
Castro-Giner F, Bustamante M, Ramon González J, Kogevinas M, Jarvis D, Heinrich J, Antó JM, Wjst M, Estivill X, de Cid R. A pooling-based genome-wide analysis identifies new potential candidate genes for atopy in the European Community Respiratory Health Survey (ECRHS). Bmc Medical Genetics. 10: 128. PMID 19961619 DOI: 10.1186/1471-2350-10-128 |
0.321 |
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| 2009 |
Armengol L, Villatoro S, González JR, Pantano L, García-Aragonés M, Rabionet R, Cáceres M, Estivill X. Identification of copy number variants defining genomic differences among major human groups. Plos One. 4: e7230. PMID 19789632 DOI: 10.1371/Journal.Pone.0007230 |
0.635 |
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| 2009 |
Hammer C, Kapeller J, Endele M, Fischer C, Hebebrand J, Hinney A, Friedel S, Gratacòs M, Estivill X, Fichter M, Fernández-Aranda F, Ehrlich S, Rappold G, Niesler B. Functional variants of the serotonin receptor type 3A and B gene are associated with eating disorders. Pharmacogenetics and Genomics. 19: 790-9. PMID 19741568 DOI: 10.1097/Fpc.0B013E32833132B3 |
0.317 |
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| 2009 |
Ogorelkova M, Navarro A, Vivarelli F, Ramirez-Soriano A, Estivill X. Positive Selection and Gene Conversion Drive the Evolution of a Brain-Expressed snoRNAs Cluster Molecular Biology and Evolution. 26: 2563-2571. PMID 19651851 DOI: 10.1093/Molbev/Msp173 |
0.39 |
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| 2009 |
Marti A, Santos JL, Gratacos M, Moreno-Aliaga MJ, Maiz A, Martinez JA, Estivill X. Association between leptin receptor (LEPR) and brain-derived neurotrophic factor (BDNF) gene variants and obesity: a case-control study. Nutritional Neuroscience. 12: 183-188. PMID 19622243 DOI: 10.1179/147683009X423355 |
0.328 |
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| 2009 |
Real E, Gratacòs M, Soria V, EscaramÃs G, Alonso P, Segalà s C, Bayés M, de Cid R, Menchón JM, Estivill X. A brain-derived neurotrophic factor haplotype is associated with therapeutic response in obsessive-compulsive disorder. Biological Psychiatry. 66: 674-80. PMID 19589503 DOI: 10.1016/J.Biopsych.2009.05.017 |
0.328 |
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| 2009 |
González JR, Subirana I, Escaramís G, Peraza S, Cáceres A, Estivill X, Armengol L. Accounting for uncertainty when assessing association between copy number and disease: a latent class model. Bmc Bioinformatics. 10: 172. PMID 19500389 DOI: 10.1186/1471-2105-10-172 |
0.321 |
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| 2009 |
Nelis M, Esko T, Mägi R, Zimprich F, Zimprich A, Toncheva D, Karachanak S, Piskácková T, Balascák I, Peltonen L, Jakkula E, Rehnström K, Lathrop M, Heath S, Galan P, ... ... Estivill X, et al. Genetic structure of Europeans: a view from the North-East. Plos One. 4: e5472. PMID 19424496 DOI: 10.1371/Journal.Pone.0005472 |
0.638 |
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| 2009 |
Muiños‐Gimeno M, Guidi M, Kagerbauer B, Martín‐Santos R, Navinés R, Alonso P, Menchón JM, Gratacòs M, Estivill X, Espinosa‐Parrilla Y. Allele variants in functional MicroRNA target sites of the neurotrophin-3 receptor gene (NTRK3) as susceptibility factors for anxiety disorders. Human Mutation. 30: 1062-1071. PMID 19370765 DOI: 10.1002/Humu.21005 |
0.328 |
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| 2009 |
Armengol L, Rabionet R, Estivill X. The emerging role of structural variations in common disorders: initial findings and discovery challenges. Cytogenetic and Genome Research. 123: 108-17. PMID 19287145 DOI: 10.1159/000184698 |
0.65 |
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| 2009 |
de Cid R, Riveira-Munoz E, Zeeuwen PL, Robarge J, Liao W, Dannhauser EN, Giardina E, Stuart PE, Nair R, Helms C, EscaramÃs G, Ballana E, MartÃn-Ezquerra G, den Heijer M, Kamsteeg M, ... ... Estivill X, et al. Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis. Nature Genetics. 41: 211-5. PMID 19169253 DOI: 10.1038/Ng.313 |
0.336 |
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| 2009 |
Zadro C, Alemanno MS, Bellacchio E, Ficarella R, Donaudy F, Melchionda S, Zelante L, Rabionet R, Hilgert N, Estivill X, Van Camp G, Gasparini P, Carella M. Are MYO1C and MYO1F associated with hearing loss? Biochimica Et Biophysica Acta. 1792: 27-32. PMID 19027848 DOI: 10.1016/J.Bbadis.2008.10.017 |
0.671 |
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| 2009 |
Beà S, Salaverria I, Armengol L, Pinyol M, Fernández V, Hartmann EM, Jares P, Amador V, Hernández L, Navarro A, Ott G, Rosenwald A, Estivill X, Campo E. Uniparental disomies, homozygous deletions, amplifications, and target genes in mantle cell lymphoma revealed by integrative high-resolution whole-genome profiling Blood. 113: 3059-3069. PMID 18984860 DOI: 10.1182/Blood-2008-07-170183 |
0.364 |
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| 2009 |
Ribasés M, Ramos-Quiroga JA, Hervás A, Bosch R, Bielsa A, Gastaminza X, Artigas J, Rodriguez-Ben S, Estivill X, Casas M, Cormand B, Bayés M. Exploration of 19 serotoninergic candidate genes in adults and children with attention-deficit/hyperactivity disorder identifies association for 5HT2A, DDC and MAOB. Molecular Psychiatry. 14: 71-85. PMID 17938636 DOI: 10.1038/Sj.Mp.4002100 |
0.309 |
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| 2008 |
Toll-Riera M, Bosch N, Bellora N, Castelo R, Armengol L, Estivill X, Albà MM. Origin of Primate Orphan Genes: A Comparative Genomics Approach Molecular Biology and Evolution. 26: 603-612. PMID 19064677 DOI: 10.1093/Molbev/Msn281 |
0.353 |
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| 2008 |
Mercader JM, Lozano JJ, Sumoy L, Dierssen M, Visa J, Gratacòs M, Estivill X. Hypothalamus transcriptome profile suggests an anorexia-cachexia syndrome in the anx/anx mouse model. Physiological Genomics. 35: 341-50. PMID 18812457 DOI: 10.1152/Physiolgenomics.90255.2008 |
0.319 |
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| 2008 |
Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, ... ... Estivill X, et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. The New England Journal of Medicine. 359: 1685-99. PMID 18784092 DOI: 10.1056/Nejmoa0805384 |
0.344 |
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| 2008 |
Canzonetta C, Mulligan C, Deutsch S, Ruf S, O'Doherty A, Lyle R, Borel C, Lin-Marq N, Delom F, Groet J, Schnappauf F, De Vita S, Averill S, Priestley JV, Martin JE, ... ... Estivill X, et al. DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome. American Journal of Human Genetics. 83: 388-400. PMID 18771760 DOI: 10.1016/J.Ajhg.2008.08.012 |
0.322 |
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| 2008 |
Rabionet R, Espinosa-Parrilla Y, Estivill X. Human genetics branches out in Barcelona. Genome Biology. 9: 318. PMID 18710599 DOI: 10.1186/Gb-2008-9-8-318 |
0.656 |
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| 2008 |
Alonso P, Gratacòs M, Menchón JM, Segalà s C, González JR, Labad J, Bayés M, Real E, de Cid R, Pertusa A, EscaramÃs G, Vallejo J, Estivill X. Genetic susceptibility to obsessive-compulsive hoarding: the contribution of neurotrophic tyrosine kinase receptor type 3 gene. Genes, Brain, and Behavior. 7: 778-85. PMID 18616610 DOI: 10.1111/J.1601-183X.2008.00418.X |
0.356 |
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| 2008 |
Bosch N, Escaramís G, Mercader JM, Armengol L, Estivill X. Analysis of the multi-copy gene family FAM90A as a copy number variant in different ethnic backgrounds. Gene. 420: 113-117. PMID 18602769 DOI: 10.1016/J.Gene.2008.05.003 |
0.359 |
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| 2008 |
Ballana E, Wang J, Venail F, Estivill X, Puel JL, Arbonès ML, Bosch A. Efficient and specific transduction of cochlear supporting cells by adeno-associated virus serotype 5. Neuroscience Letters. 442: 134-9. PMID 18601973 DOI: 10.1016/J.Neulet.2008.06.060 |
0.308 |
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| 2008 |
Estivill X, Cox NJ, Chanock SJ, Kwok PY, Scherer SW, Brookes AJ. SNPs meet CNVs in genome-wide association studies: HGV2007 meeting report Plos Genetics. 4. PMID 18437244 DOI: 10.1371/Journal.Pgen.1000068 |
0.306 |
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| 2008 |
Mercader JM, Saus E, Agüera Z, Bayés M, Boni C, Carreras A, Cellini E, de Cid R, Dierssen M, EscaramÃs G, Fernández-Aranda F, Forcano L, Gallego X, González JR, Gorwood P, ... ... Estivill X, et al. Association of NTRK3 and its interaction with NGF suggest an altered cross-regulation of the neurotrophin signaling pathway in eating disorders. Human Molecular Genetics. 17: 1234-44. PMID 18203754 DOI: 10.1016/J.Eurpsy.2008.01.1010 |
0.362 |
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| 2008 |
Solé X, Hernández P, de Heredia ML, Armengol L, Rodríguez-Santiago B, Gómez L, Maxwell CA, Aguiló F, Condom E, Abril J, Pérez-Jurado L, Estivill X, Nunes V, Capellá G, Gruber SB, et al. Genetic and genomic analysis modeling of germline c-MYC overexpression and cancer susceptibility. Bmc Genomics. 9: 12. PMID 18190704 DOI: 10.1186/1471-2164-9-12 |
0.348 |
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| 2008 |
Llorens F, Gil V, Iraola S, Carim-Todd L, Martà E, Estivill X, Soriano E, del Rio JA, Sumoy L. Developmental analysis of Lingo-1/Lern1 protein expression in the mouse brain: interaction of its intracellular domain with Myt1l. Developmental Neurobiology. 68: 521-41. PMID 18186492 DOI: 10.1002/Dneu.20607 |
0.752 |
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| 2008 |
Ballana E, Govea N, Cid Rd, Garcia C, Arribas C, Rosell J, Estivill X. Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations. Human Mutation. 29: 248-257. PMID 17999439 DOI: 10.1002/Humu.20639 |
0.381 |
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| 2008 |
Witsch-Baumgartner M, Schwentner I, Gruber M, Benlian P, Bertranpetit J, Bieth E, Chevy F, Clusellas N, Estivill X, Gasparini G, Giros M, Kelley RI, Krajewska-Walasek M, Menzel J, Miettinen T, et al. Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations. Journal of Medical Genetics. 45: 200-9. PMID 17965227 DOI: 10.1136/Jmg.2007.053520 |
0.363 |
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| 2008 |
Guipponi M, Toh MY, Tan J, Park D, Hanson K, Ballana E, Kwong D, Cannon PZ, Wu Q, Gout A, Delorenzi M, Speed TP, Smith RJ, Dahl HH, Petersen M, ... ... Estivill X, et al. An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss. Human Mutation. 29: 130-41. PMID 17918732 DOI: 10.1002/Humu.20617 |
0.324 |
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| 2008 |
Alonso P, Gratacòs M, Menchón JM, Saiz-Ruiz J, Segalà s C, Baca-GarcÃa E, Labad J, Fernández-Piqueras J, Real E, Vaquero C, Pérez M, Dolengevich H, González JR, Bayés M, de Cid R, ... ... Estivill X, et al. Extensive genotyping of the BDNF and NTRK2 genes define protective haplotypes against obsessive-compulsive disorder. Biological Psychiatry. 63: 619-28. PMID 17884018 DOI: 10.1016/J.Biopsych.2007.06.020 |
0.374 |
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| 2008 |
Gratacòs M, Soria V, Urretavizcaya M, González JR, Crespo JM, Bayés M, de Cid R, Menchón JM, Vallejo J, Estivill X. A brain-derived neurotrophic factor (BDNF) haplotype is associated with antidepressant treatment outcome in mood disorders. The Pharmacogenomics Journal. 8: 101-12. PMID 17505499 DOI: 10.1038/Sj.Tpj.6500460 |
0.34 |
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| 2008 |
Ribasés M, Fernández-Aranda F, Gratacòs M, Mercader JM, Casasnovas C, Núñez A, Vallejo J, Estivill X. Contribution of the serotoninergic system to anxious and depressive traits that may be partially responsible for the phenotypical variability of bulimia nervosa. Journal of Psychiatric Research. 42: 50-7. PMID 17055531 DOI: 10.1016/J.Jpsychires.2006.09.001 |
0.33 |
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| 2008 |
Carratalá F, Galán F, Moya M, Estivill X, Pritchard MA, Llevadot R, Nadal M, Gratacòs M. A patient with autistic disorder and a 20/22 chromosomal translocation Developmental Medicine & Child Neurology. 40: 492-495. PMID 9698063 DOI: 10.1111/J.1469-8749.1998.Tb15400.X |
0.311 |
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| 2007 |
Ballana E, Mercader JM, Fischel-Ghodsian N, Estivill X. MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene Bmc Medical Genetics. 8: 81-81. PMID 18154640 DOI: 10.1186/1471-2350-8-81 |
0.413 |
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| 2007 |
Madrigal I, Rodríguez-Revenga L, Armengol L, González E, Rodriguez B, Badenas C, Sánchez A, Martínez F, Guitart M, Fernández-Carvajal I, Arranz J, Tejada M, Pérez-Jurado L, Estivill X, Milà M. X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation. Bmc Genomics. 8: 443-443. PMID 18047645 DOI: 10.1186/1471-2164-8-443 |
0.312 |
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| 2007 |
Estivill X, Armengol L. Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies. Plos Genetics. 3: 1787-1799. PMID 17953491 DOI: 10.1371/Journal.Pgen.0030190 |
0.338 |
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| 2007 |
Faucz FR, Gimenez J, Ramos MD, Pereira-Ferrari L, Estivill X, Raskin S, Casals T, Culpi L. Cystic fibrosis in a southern Brazilian population: characteristics of 90% of the alleles. Clinical Genetics. 72: 218-23. PMID 17718859 DOI: 10.1111/J.1399-0004.2007.00854.X |
0.395 |
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| 2007 |
Bosch N, Cáceres M, Cardone MF, Carreras A, Ballana E, Rocchi M, Armengol L, Estivill X. Characterization and evolution of the novel gene family FAM90A in primates originated by multiple duplication and rearrangement events. Human Molecular Genetics. 16: 2572-82. PMID 17684299 DOI: 10.1093/Hmg/Ddm209 |
0.378 |
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| 2007 |
Beckmann JS, Estivill X, Antonarakis SE. Copy number variants and genetic traits: Closer to the resolution of phenotypic to genotypic variability Nature Reviews Genetics. 8: 639-646. PMID 17637735 DOI: 10.1038/Nrg2149 |
0.351 |
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| 2007 |
Gratacòs M, Sahún I, Gallego X, Amador-Arjona A, Estivill X, Dierssen M. Candidate genes for panic disorder: insight from human and mouse genetic studies Genes, Brain and Behavior. 6: 2-23. PMID 17543035 DOI: 10.1111/J.1601-183X.2007.00318.X |
0.332 |
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| 2007 |
Rodriguez-Revenga L, Madrigal I, Alkhalidi LS, Armengol L, González E, Badenas C, Estivill X, Milà M. Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy. American Journal of Medical Genetics Part A. 143: 916-920. PMID 17431911 DOI: 10.1002/Ajmg.A.31521 |
0.392 |
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| 2007 |
Mercader JM, Ribasés M, Gratacòs M, González JR, Bayés M, Cid RD, Badía A, Fernández‐Aranda F, Estivill X. Altered brain-derived neurotrophic factor blood levels and gene variability are associated with anorexia and bulimia. Genes, Brain and Behavior. 6: 706-716. PMID 17376155 DOI: 10.1111/J.1601-183X.2007.00301.X |
0.31 |
|
| 2007 |
Alonso MJ, Heine-Suñer D, Calvo M, Rosell J, Giménez J, Ramos MD, Telleria JJ, Palacio A, Estivill X, Casals T. Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry. Annals of Human Genetics. 71: 194-201. PMID 17331079 DOI: 10.1111/J.1469-1809.2006.00310.X |
0.389 |
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| 2007 |
González JR, Armengol L, Solé X, Guinó E, Mercader JM, Estivill X, Moreno V. SNPassoc: an R package to perform whole genome association studies Bioinformatics. 23: 654-655. PMID 17267436 DOI: 10.1093/Bioinformatics/Btm025 |
0.311 |
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| 2007 |
Ballana E, González JR, Bosch N, Estivill X. Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability Bmc Genomics. 8: 14-14. PMID 17214878 DOI: 10.1186/1471-2164-8-14 |
0.364 |
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| 2007 |
Pujana MA, Ruiz A, Badenas C, Puig-Butille J, Nadal M, Stark M, Gómez L, Valls J, Solé X, Hernández P, Cerrato C, Madrigal I, Cid Rd, Aguilar H, Capellá G, ... ... Estivill X, et al. Molecular characterization of a t(9;12)(p21;q13) balanced chromosome translocation in combination with integrative genomics analysis identifies C9orf14 as a candidate tumor‐suppressor Genes, Chromosomes and Cancer. 46: 155-162. PMID 17099875 DOI: 10.1002/Gcc.20396 |
0.341 |
|
| 2006 |
Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, Freeman JL, González JR, Gratacòs M, ... ... Estivill X, et al. Global variation in copy number in the human genome. Nature. 444: 444-54. PMID 17122850 DOI: 10.1038/Nature05329 |
0.346 |
|
| 2006 |
Khaja R, Zhang J, MacDonald JR, He Y, Joseph-George AM, Wei J, Rafiq MA, Qian C, Shago M, Pantano L, Aburatani H, Jones K, Redon R, Hurles M, Armengol L, ... Estivill X, et al. Genome assembly comparison identifies structural variants in the human genome. Nature Genetics. 38: 1413-8. PMID 17115057 DOI: 10.1038/Ng1921 |
0.308 |
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| 2006 |
González JR, Wang W, Ballana E, Estivill X. A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness. Human Mutation. 27: 1135-42. PMID 16941638 DOI: 10.1002/Humu.20390 |
0.384 |
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| 2006 |
de la Luna S, Estivill X. Cooperation to amplify gene-dosage-imbalance effects. Trends in Molecular Medicine. 12: 451-4. PMID 16919501 DOI: 10.1016/J.Molmed.2006.08.001 |
0.355 |
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| 2006 |
Goidts V, Cooper DN, Armengol L, Schempp W, Conroy J, Estivill X, Nowak N, Hameister H, Kehrer-Sawatzki H. Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome Human Genetics. 120: 270-284. PMID 16838144 DOI: 10.1007/S00439-006-0217-Y |
0.334 |
|
| 2006 |
Guan MX, Yan Q, Li X, Bykhovskaya Y, Gallo-Teran J, Hajek P, Umeda N, Zhao H, Garrido G, Mengesha E, Suzuki T, del Castillo I, Peters JL, Li R, Qian Y, ... ... Estivill X, et al. Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations. American Journal of Human Genetics. 79: 291-302. PMID 16826519 DOI: 10.1086/506389 |
0.36 |
|
| 2006 |
Bravo O, Ballana E, Estivill X. Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene Biochemical and Biophysical Research Communications. 344: 511-516. PMID 16631122 DOI: 10.1016/J.Bbrc.2006.03.143 |
0.343 |
|
| 2006 |
Yan Q, Bykhovskaya Y, Li R, Mengesha E, Shohat M, Estivill X, Fischel-Ghodsian N, Guan MX. Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations. Biochemical and Biophysical Research Communications. 342: 1130-6. PMID 16513084 DOI: 10.1016/J.Bbrc.2006.02.078 |
0.393 |
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| 2006 |
Ballana E, Morales E, Rabionet R, Montserrat B, Ventayol M, Bravo O, Gasparini P, Estivill X. Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment. Biochemical and Biophysical Research Communications. 341: 950-7. PMID 16458854 DOI: 10.1016/J.Bbrc.2006.01.049 |
0.671 |
|
| 2006 |
Goidts V, Armengol L, Schempp W, Conroy J, Nowak N, Müller S, Cooper DN, Estivill X, Enard W, Szamalek JM, Hameister H, Kehrer-Sawatzki H. Identification of large-scale human-specific copy number differences by inter-species array comparative genomic hybridization Human Genetics. 119: 185-198. PMID 16395594 DOI: 10.1007/S00439-005-0130-9 |
0.32 |
|
| 2006 |
Donaudy F, Zheng L, Ficarella R, Ballana E, Carella M, Melchionda S, Estivill X, Bartles JR, Gasparini P. Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation Journal of Medical Genetics. 43: 157-161. PMID 15930085 DOI: 10.1136/Jmg.2005.032086 |
0.401 |
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| 2006 |
Rabionet R, Morales-Peralta E, López-Bigas N, Arbonés ML, Estivill X. A novel G21R mutation of the GJB2 gene causes autosomal dominant non-syndromic congenital deafness in a Cuban family Genetics and Molecular Biology. 29: 443-445. DOI: 10.1590/S1415-47572006000300006 |
0.669 |
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| 2005 |
Armengol L, Marquès-Bonet T, Cheung J, Khaja R, González JR, Scherer SW, Navarro A, Estivill X. Murine segmental duplications are hot spots for chromosome and gene evolution. Genomics. 86: 692-700. PMID 16256303 DOI: 10.1016/J.Ygeno.2005.08.008 |
0.314 |
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| 2005 |
Wattenhofer M, Reymond A, Falciola V, Charollais A, Caille D, Borel C, Lyle R, Estivill X, Petersen MB, Meda P, Antonarakis SE. Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro Human Mutation. 25: 543-549. PMID 15880785 DOI: 10.1002/Humu.20172 |
0.342 |
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| 2005 |
Ribasés M, Gratacòs M, Fernández-Aranda F, Bellodi L, Boni C, Anderluh M, Cristina Cavallini M, Cellini E, Di Bella D, Erzegovesi S, Foulon C, Gabrovsek M, Gorwood P, Hebebrand J, Hinney A, ... ... Estivill X, et al. Association of BDNF with restricting anorexia nervosa and minimum body mass index: a family-based association study of eight European populations. European Journal of Human Genetics : Ejhg. 13: 428-34. PMID 15657604 DOI: 10.1038/Sj.Ejhg.5201351 |
0.333 |
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| 2004 |
Bykhovskaya Y, Mengesha E, Wang D, Yang H, Estivill X, Shohat M, Fischel-Ghodsian N. Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3. Molecular Genetics and Metabolism. 83: 199-206. PMID 15542390 DOI: 10.1016/J.Ymgme.2004.07.009 |
0.366 |
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| 2004 |
Benavides-Piccione R, Ballesteros-Yáñez I, de Lagrán MM, Elston G, Estivill X, Fillat C, Defelipe J, Dierssen M. On dendrites in Down syndrome and DS murine models: a spiny way to learn. Progress in Neurobiology. 74: 111-26. PMID 15518956 DOI: 10.1016/J.Pneurobio.2004.08.001 |
0.309 |
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| 2004 |
Casals T, De-Gracia J, Gallego M, Dorca J, Rodríguez-Sanchón B, Ramos MD, Giménez J, Cisteró-Bahima A, Olveira C, Estivill X. Bronchiectasis in adult patients: an expression of heterozygosity for CFTR gene mutations? Clinical Genetics. 65: 490-5. PMID 15151509 DOI: 10.1111/J.0009-9163.2004.00265.X |
0.385 |
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| 2004 |
Ribasés M, Gratacòs M, Fernández-Aranda F, Bellodi L, Boni C, Anderluh M, Cavallini MC, Cellini E, Di Bella D, Erzegovesi S, Foulon C, Gabrovsek M, Gorwood P, Hebebrand J, Hinney A, ... ... Estivill X, et al. Association of BDNF with anorexia, bulimia and age of onset of weight loss in six European populations. Human Molecular Genetics. 13: 1205-12. PMID 15115760 DOI: 10.1093/Hmg/Ddh137 |
0.34 |
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| 2004 |
Bykhovskaya Y, Mengesha E, Wang D, Yang H, Estivill X, Shohat M, Fischel-Ghodsian N. Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation. Molecular Genetics and Metabolism. 82: 27-32. PMID 15110318 DOI: 10.1016/J.Ymgme.2004.01.020 |
0.422 |
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| 2004 |
Shaw CJ, Stankiewicz P, Bien-Willner G, Bello SC, Shaw CA, Carrera M, Perez Jurado L, Estivill X, Lupski JR. Small marker chromosomes in two patients with segmental aneusomy for proximal 17p. Human Genetics. 115: 1-7. PMID 15098121 DOI: 10.1007/S00439-004-1119-5 |
0.311 |
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| 2004 |
Casals T, Aparisi L, Martínez-Costa C, Giménez J, Ramos MD, Mora J, Diaz J, Boadas J, Estivill X, Farré A. Different CFTR mutational spectrum in alcoholic and idiopathic chronic pancreatitis? Pancreas. 28: 374-9. PMID 15097853 DOI: 10.1097/00006676-200405000-00004 |
0.319 |
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| 2004 |
Donaudy F, Snoeckx R, Pfister M, Zenner HP, Blin N, Di Stazio M, Ferrara A, Lanzara C, Ficarella R, Declau F, Pusch CM, Nürnberg P, Melchionda S, Zelante L, Ballana E, ... Estivill X, et al. Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4). American Journal of Human Genetics. 74: 770-6. PMID 15015131 DOI: 10.1086/383285 |
0.378 |
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| 2004 |
Groman JD, Hefferon TW, Casals T, Bassas L, Estivill X, Des Georges M, Guittard C, Koudova M, Fallin MD, Nemeth K, Fekete G, Kadasi L, Friedman K, Schwarz M, Bombieri C, et al. Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign American Journal of Human Genetics. 74: 176-179. PMID 14685937 DOI: 10.1086/381001 |
0.336 |
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| 2004 |
Gabrovsek M, Brecelj-Anderluh M, Bellodi L, Cellini E, Di Bella D, Estivill X, Fernandez-Aranda F, Freeman B, Geller F, Gratacos M, Haigh R, Hebebrand J, Hinney A, Holliday J, Hu X, et al. Combined family trio and case-control analysis of the COMT Val158Met polymorphism in European patients with anorexia nervosa. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 124: 68-72. PMID 14681918 DOI: 10.1002/Ajmg.B.20085 |
0.326 |
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| 2003 |
Carim-Todd L, Escarceller M, Estivill X, Sumoy L. LRRN6A/LERN1 (leucine-rich repeat neuronal protein 1), a novel gene with enriched expression in limbic system and neocortex. European Journal of Neuroscience. 18: 3167-3182. PMID 14686891 DOI: 10.1111/J.1460-9568.2003.03003.X |
0.352 |
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| 2003 |
Andreu N, Pujol-Moix N, Martinez-Lostao L, Oset M, Muñiz-Diaz E, Estivill X, Volpini V, Fillat C. Wiskott-Aldrich syndrome in a female with skewed X-chromosome inactivation. Blood Cells Molecules and Diseases. 31: 332-337. PMID 14636648 DOI: 10.1016/S1079-9796(03)00168-2 |
0.364 |
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| 2003 |
Del Castillo I, Moreno-Pelayo MA, Del Castillo FJ, Brownstein Z, Marlin S, Adina Q, Cockburn DJ, Pandya A, Siemering KR, Chamberlin GP, Ballana E, Wuyts W, Maciel-Guerra AT, Alvarez A, Villamar M, ... ... Estivill X, et al. Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. American Journal of Human Genetics. 73: 1452-8. PMID 14571368 DOI: 10.1086/380205 |
0.415 |
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| 2003 |
Andreu N, Carreras C, Prieto F, Estivill X, Volpini V, Fillat C. Identification and characterization of a novel splice-site mutation in a patient with Wiskott-Aldrich syndrome. Journal of Human Genetics. 48: 590-593. PMID 14566484 DOI: 10.1007/S10038-003-0083-6 |
0.377 |
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| 2003 |
Armengol L, Pujana MA, Cheung J, Scherer SW, Estivill X. Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements Human Molecular Genetics. 12: 2201-2208. PMID 12915466 DOI: 10.1093/Hmg/Ddg223 |
0.31 |
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| 2003 |
Ribasés M, Gratacòs M, Armengol L, de Cid R, BadÃa A, Jiménez L, Solano R, Vallejo J, Fernández F, Estivill X. Met66 in the brain-derived neurotrophic factor (BDNF) precursor is associated with anorexia nervosa restrictive type. Molecular Psychiatry. 8: 745-51. PMID 12888803 DOI: 10.1038/Sj.Mp.4001281 |
0.349 |
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| 2003 |
de Semir D, Nadal M, González JR, Larriba S, Avinyó A, Nunes V, Casals T, Estivill X, Aran JM. Suitability of oligonucleotide-mediated cystic fibrosis gene repair in airway epithelial cells. The Journal of Gene Medicine. 5: 625-39. PMID 12825202 DOI: 10.1002/Jgm.374 |
0.322 |
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| 2003 |
Hilton JF, Christensen KE, Watkins D, Raby BA, Renaud Y, de la Luna S, Estivill X, MacKenzie RE, Hudson TJ, Rosenblatt DS. The molecular basis of glutamate formiminotransferase deficiency. Human Mutation. 22: 67-73. PMID 12815595 DOI: 10.1002/Humu.10236 |
0.368 |
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| 2003 |
Ars E, Kruyer H, Morell M, Pros E, Serra E, Ravella A, Estivill X, Lázaro C. Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients Journal of Medical Genetics. 40. PMID 12807981 DOI: 10.1136/Jmg.40.6.E82 |
0.387 |
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| 2003 |
Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, ... ... Estivill X, et al. Human chromosome 7: DNA sequence and biology. Science (New York, N.Y.). 300: 767-72. PMID 12690205 DOI: 10.1126/Science.1083423 |
0.343 |
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| 2003 |
Gimelli G, Pujana MA, Patricelli MG, Russo S, Giardino D, Larizza L, Cheung J, Armengol L, Schinzel A, Estivill X, Zuffardi O. Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions. Human Molecular Genetics. 12: 849-58. PMID 12668608 DOI: 10.1093/Hmg/Ddg101 |
0.305 |
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| 2003 |
Domschke K, Kuhlenbäumer G, Schirmacher A, Lorenzi C, Armengol L, DiBella D, Gratacos M, Garritsen HS, Nöthen MM, Franke P, Sand P, Fritze J, Perez G, Maier W, Sibrowski W, ... Estivill X, et al. Human nuclear transcription factor gene CREM: genomic organization, mutation screening, and association analysis in panic disorder. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 117: 70-8. PMID 12555239 DOI: 10.1002/Ajmg.B.10018 |
0.37 |
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| 2002 |
López-Bigas N, Arbonés ML, Estivill X, Simonneau L. Expression profiles of the connexin genes, Gjb1 and Gjb3, in the developing mouse cochlea Mechanisms of Development. 119. PMID 14516671 DOI: 10.1016/S0925-4773(03)00102-3 |
0.336 |
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| 2002 |
López-Bigas N, Arbonés ML, Estivill X, Simonneau L. RETRACTED: Expression profiles of the connexin genes, Gjb1 and Gjb3, in the developing mouse cochlea Gene Expression Patterns. 2: 113-117. PMID 12617848 DOI: 10.1016/S0925-4773(02)00299-X |
0.336 |
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| 2002 |
Padilla O, Pujana MA, Iglesia ALL, Gimferrer I, Arman M, Vila JM, Places L, Vives J, Estivill X, Lozano F. Cloning of S4D-SRCRB, a new soluble member of the group B scavenger receptor cysteine-rich family (SRCR-SF) mapping to human chromosome 7q11.23. Immunogenetics. 54: 621-634. PMID 12466895 DOI: 10.1007/S00251-002-0507-Z |
0.321 |
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| 2002 |
Armengol L, Gratacòs M, Pujana MA, Ribasés M, Martín-Santos R, Estivill X. 5' UTR-region SNP in the NTRK3 gene is associated with panic disorder. Molecular Psychiatry. 7: 928-930. PMID 12399943 DOI: 10.1038/Sj.Mp.4001134 |
0.329 |
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| 2002 |
Fotaki V, Dierssen M, Alcántara S, MartÃnez S, Martà E, Casas C, Visa J, Soriano E, Estivill X, Arbonés ML. Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice. Molecular and Cellular Biology. 22: 6636-47. PMID 12192061 DOI: 10.1128/Mcb.22.18.6636-6647.2002 |
0.663 |
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| 2002 |
Thönnissen E, Rabionet R, Arbonès ML, Estivill X, Willecke K, Ott T. Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression. Human Genetics. 111: 190-7. PMID 12189493 DOI: 10.1007/S00439-002-0750-2 |
0.651 |
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| 2002 |
Estivill X, Cheung J, Pujana MA, Nakabayashi K, Scherer SW, Tsui LC. Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome. Human Molecular Genetics. 11: 1987-95. PMID 12165560 DOI: 10.1093/Hmg/11.17.1987 |
0.325 |
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| 2002 |
de Semir D, Avinyó A, Larriba S, Nunes V, Casals T, Estivill X, Aran JM. Quantitative assessment of chimeraplast stability in biological fluids by polyacrylamide gel electrophoresis and laser-assisted fluorescence analysis. Pharmaceutical Research. 19: 914-8. PMID 12134966 DOI: 10.1023/A:1016133722394 |
0.305 |
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| 2002 |
López‐Bigas N, Melchionda S, Cid Rd, Grifa A, Zelante L, Govea N, Arbonés ML, Gasparini P, Estivill X. Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment. Human Mutation. 18: 548-548. PMID 12112665 DOI: 10.1002/Humu.9043 |
0.368 |
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| 2002 |
Rabionet R, López-Bigas N, Arbonès ML, Estivill X. Connexin mutations in hearing loss, dermatological and neurological disorders. Trends in Molecular Medicine. 8: 205-12. PMID 12067629 DOI: 10.1016/S1471-4914(02)02327-4 |
0.676 |
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| 2002 |
López-Bigas N, Melchionda S, Gasparini P, Borragán A, Arbonés ML, Estivill X. A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families. Human Mutation. 19: 458-458. PMID 11933201 DOI: 10.1002/Humu.9023 |
0.389 |
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| 2002 |
Wattenhofer M, Di Iorio MV, Rabionet R, Dougherty L, Pampanos A, Schwede T, Montserrat-Sentis B, Arbones ML, Iliades T, Pasquadibisceglie A, D'Amelio M, Alwan S, Rossier C, Dahl HH, Petersen MB, ... Estivill X, et al. Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. Journal of Molecular Medicine (Berlin, Germany). 80: 124-31. PMID 11907649 DOI: 10.1007/S00109-001-0310-6 |
0.692 |
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| 2001 |
Larriba S, Sumoy L, Ramos MD, Giménez J, Estivill X, Casals T, Nunes V. ATB(0)/SLC1A5 gene. Fine localisation and exclusion of association with the intestinal phenotype of cystic fibrosis. European Journal of Human Genetics : Ejhg. 9: 860-6. PMID 11781704 DOI: 10.1038/Sj.Ejhg.5200726 |
0.409 |
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| 2001 |
Dierssen M, Martí E, Pucharcós C, Fotaki V, Altafaj X, Casas K, Solans A, Arbonés ML, Fillat C, Estivill X. Functional genomics of Down syndrome: a multidisciplinary approach. Journal of Neural Transmission-Supplement. 131-48. PMID 11771739 DOI: 10.1007/978-3-7091-6262-0_11 |
0.391 |
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| 2001 |
Carim-Todd L, Sumoy L, Andreu N, Estivill X, Escarceller M. Cloning, Mapping and Expression Analysis of C15 or f4, a Novel Human Gene with Homology to the Yeast Mitochondrial Ribosomal Protein Yml30 Gene Dna Sequence. 12: 91-96. PMID 11761714 DOI: 10.3109/10425170109047561 |
0.329 |
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| 2001 |
López-Bigas N, Melchionda S, Cid Rd, Grifa A, Zelante L, Govea N, Arbonés ML, Gasparini P, Estivill X. Erratum: Identification of five new mutations ofPDS/SLC26A4in Mediterranean families with hearing impairment: MUTATIONS IN BRIEF Human Mutation. 18: 548-548. PMID 11748854 DOI: 10.1002/Humu.1238 |
0.332 |
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| 2001 |
Andreu N, Escarceller M, Feather S, Devriendt K, Wolf AS, Estivill X, Sumoy L. PALML, a novel paralemmin-related gene mapping on human chromosome 1p21 Gene. 278: 33-40. PMID 11707320 DOI: 10.1016/S0378-1119(01)00719-3 |
0.362 |
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| 2001 |
Carim-Todd L, Sumoy L, Andreu N, Estivill X, Escarceller M. Identification of C15orf5, a heart-enriched transcript on chromosome 15q23-q24. Dna Sequence. 12: 67-69. PMID 11697146 DOI: 10.3109/10425170109042052 |
0.309 |
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| 2001 |
Pucharcos C, Casas C, Nadal M, Estivill X, Luna Sdl. The human intersectin genes and their spliced variants are differentially expressed. Biochimica Et Biophysica Acta. 1521: 1-11. PMID 11690630 DOI: 10.1016/S0167-4781(01)00276-7 |
0.682 |
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| 2001 |
Dierssen M, Fillat C, Crnic L, Arbonés M, Flórez J, Estivill X. Murine models for Down syndrome. Physiology & Behavior. 73: 859-71. PMID 11566219 DOI: 10.1016/S0031-9384(01)00523-6 |
0.385 |
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| 2001 |
Gratacòs M, Nadal M, Martı́n-Santos R, Pujana MA, Gago J, Peral B, Armengol L, Ponsa I, Miró R, Bulbena A, Estivill X. A polymorphic genomic duplication on human chromosome 15 is a susceptibility factor for panic and phobic disorders. Cell. 106: 367-379. PMID 11509185 DOI: 10.1016/S0092-8674(01)00447-0 |
0.352 |
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| 2001 |
Melchionda S, Ahituv N, Bisceglia L, Sobe T, Glaser F, Rabionet R, Arbones ML, Notarangelo A, Di Iorio E, Carella M, Zelante L, Estivill X, Avraham KB, Gasparini P. MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss. American Journal of Human Genetics. 69: 635-40. PMID 11468689 DOI: 10.1086/323156 |
0.68 |
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| 2001 |
Larriba S, Bassas L, Egozcue S, Giménez J, Ramos MD, Briceño O, Estivill X, Casals T. Adenosine triphosphate-binding cassette superfamily transporter gene expression in severe male infertility. Biology of Reproduction. 65: 394-400. PMID 11466205 DOI: 10.1095/Biolreprod65.2.394 |
0.365 |
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| 2001 |
Mallolas J, Vilaseca MA, Pavia C, Lambruschini N, Cambra FJ, Campistol J, Gómez D, Carrió A, Estivill X, Milà M. Large de novo deletion in chromosome 12 affecting the PAH, IGF1, ASCL1, and TRA1 genes Journal of Molecular Medicine. 78: 721-724. PMID 11434725 DOI: 10.1007/S001090000160 |
0.441 |
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| 2001 |
Serra E, Rosenbaum T, Nadal M, Winner U, Ars E, Estivill X, Lázaro C. Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas. Nature Genetics. 28: 294-6. PMID 11431704 DOI: 10.1038/90148 |
0.358 |
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| 2001 |
Serra E, Ars E, Ravella A, Sánchez A, Puig S, Rosenbaum T, Estivill X, Lázaro C. Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations. Human Genetics. 108: 416-29. PMID 11409870 DOI: 10.1007/S004390100514 |
0.363 |
|
| 2001 |
Bykhovskaya Y, Yang H, Taylor K, Hang T, Tun RYM, Estivill X, Casano RAMS, Majamaa K, Shohat M, Fischel-Ghodsian N. Modifier locus for mitochondrial DNA disease: linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness. Genetics in Medicine. 3: 177-180. PMID 11388757 DOI: 10.1097/00125817-200105000-00005 |
0.303 |
|
| 2001 |
Lazo PA, Nadal M, Ferrer M, Area E, Hernandez-Torres J, Nabokina SM, Mollinedo F, Estivill X. Genomic organization, chromosomal localization, alternative splicing, and isoforms of the human synaptosome-associated protein-23 gene implicated in vesicle-membrane fusion processes. Human Genetics. 108: 211-215. PMID 11354632 DOI: 10.1007/S004390100480 |
0.331 |
|
| 2001 |
Carim-Todd L, Escarceller M, Estivill X, Sumoy L. Identification and characterization of UBXD1, a novel UBX domain-containing gene on human chromosome 19p13, and its mouse ortholog. Biochimica Et Biophysica Acta. 1517: 298-301. PMID 11342112 DOI: 10.1016/S0167-4781(00)00248-7 |
0.34 |
|
| 2001 |
Nadal M, Vigo CG, Melaragno MI, Andrade JA, Alonso LG, Brunoni D, Pritchard M, Estivill X. Clinical and cytogenetic characterisation of a patient with Down syndrome resulting from a 21q22.1-->qter duplication. Journal of Medical Genetics. 38: 73-6. PMID 11334012 DOI: 10.1136/Jmg.38.1.73 |
0.362 |
|
| 2001 |
López-Bigas N, Olivé M, Rabionet R, Ben-David O, MartÃnez-Matos JA, Bravo O, Banchs I, Volpini V, Gasparini P, Avraham KB, Ferrer I, Arbonés ML, Estivill X. Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment. Human Molecular Genetics. 10: 947-52. PMID 11309368 DOI: 10.1093/Hmg/10.9.947 |
0.664 |
|
| 2001 |
Fillat C, Español T, Oset M, Ferrando M, Estivill X, Volpini V. Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome. American Journal of Medical Genetics. 100: 116-121. PMID 11298372 DOI: 10.1002/Ajmg.1228 |
0.387 |
|
| 2001 |
Carim-Todd L, Escarceller M, Estivill X, Sumoy L. Characterization of human FSD1, a novel brain specific gene on chromosome 19 with paralogy to 9q31. Biochimica Et Biophysica Acta. 1518: 200-203. PMID 11267680 DOI: 10.1016/S0167-4781(01)00178-6 |
0.354 |
|
| 2001 |
Casas C, MartÃnez S, Pritchard MA, Fuentes JJ, Nadal M, Guimerà J, Arbonés M, Flórez J, Soriano E, Estivill X, Alcántara S. Dscr1, a novel endogenous inhibitor of calcineurin signaling, is expressed in the primitive ventricle of the heart and during neurogenesis. Mechanisms of Development. 101: 289-92. PMID 11231093 DOI: 10.1016/S0925-4773(00)00583-9 |
0.657 |
|
| 2001 |
Carim-Todd L, Sumoy L, Andreu N, Estivill X, Escarceller M. Identification and characterization of BTBD1, a novel BTB domain containing gene on human chromosome 15q24 Gene. 262: 275-281. PMID 11179693 DOI: 10.1016/S0378-1119(00)00513-8 |
0.353 |
|
| 2001 |
Sumoy L, Pluvinet R, Andreu N, Estivill X, Escarceller M. PACSIN 3 is a novel SH3 domain cytoplasmic adapter protein of the pacsin-syndapin-FAP52 gene family. Gene. 262: 199-205. PMID 11179684 DOI: 10.1016/S0378-1119(00)00531-X |
0.323 |
|
| 2001 |
Badenas C, Castellví‐Bel S, Volpini V, Jiménez D, Sánchez A, Estivill X, Milà M. Linkage analysis in Spanish families with nonspecific X-linked mental retardation: Significant linkage at Xq13-q21. American Journal of Medical Genetics. 98: 343-347. PMID 11170079 DOI: 10.1002/1096-8628(20010201)98:4<343::Aid-Ajmg1107>3.0.Co;2-V |
0.324 |
|
| 2001 |
Gómez-Zaera M, Strom TM, Rodríguez B, Estivill X, Meitinger T, Nunes V. Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees. Molecular Genetics and Metabolism. 72: 72-81. PMID 11161832 DOI: 10.1006/Mgme.2000.3107 |
0.399 |
|
| 2001 |
Font MA, Feliubadaló L, Estivill X, Nunes V, Golomb E, Kreiss Y, Pras E, Bisceglia L, d'Adamo AP, Zelante L, Gasparini P, Bassi MT, George AL, Manzoni M, Riboni M, et al. Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria. Human Molecular Genetics. 10: 305-16. PMID 11157794 DOI: 10.1093/Hmg/10.4.305 |
0.382 |
|
| 2000 |
Soriano JB, Cid RD, Estivill X, Antó JM, Sunyer J, Otero D, Roca J, Rodríguez-Roisín R, Morell F, Rodrigo MJ, Ercilla G, Beaty TL, Lázaro C. Association study of proposed candidate genes/regions in a population of Spanish asthmatics European Journal of Epidemiology. 16: 745-750. PMID 11142503 DOI: 10.1023/A:1026758319621 |
0.342 |
|
| 2000 |
Carim-Todd L, Escarceller M, Estivill X, Sumoy L. Cloning of the novel gene TM6SF1 reveals conservation of clusters of paralogous genes between human chromosomes 15q24→q26 and 19p13.3→p12 Cytogenetic and Genome Research. 90: 255-260. PMID 11124529 DOI: 10.1159/000056784 |
0.355 |
|
| 2000 |
Ruiz A, Pujana MA, Estivill X. Isolation and characterisation of a novel human gene (C9orf11) on chromosome 9p21, a region frequently deleted in human cancer. Biochimica Et Biophysica Acta. 1517: 128-134. PMID 11118625 DOI: 10.1016/S0167-4781(00)00272-4 |
0.402 |
|
| 2000 |
Chrast R, Scott HS, Papasavvas MP, Rossier C, Antonarakis ES, Barras C, Davisson MT, Schmidt C, Estivill X, Dierssen M, Pritchard M, Antonarakis SE. The mouse brain transcriptome by SAGE: differences in gene expression between P30 brains of the partial trisomy 16 mouse model of Down syndrome (Ts65Dn) and normals. Genome Research. 10: 2006-21. PMID 11116095 DOI: 10.1101/Gr.10.12.2006 |
0.328 |
|
| 2000 |
Serra E, Rosenbaum T, Winner U, Aledo R, Ars E, Estivill X, Lenard HG, Lázaro C. Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations. Human Molecular Genetics. 9: 3055-64. PMID 11115850 DOI: 10.1093/Hmg/9.20.3055 |
0.334 |
|
| 2000 |
Escarceller M, Pluvinet R, Sumoy L, Estivill X. Identification and Expression Analysis of C3orf1, a Novel Human Gene Homologous to the Drosophila RP140—Upstream Gene Dna Sequence. 11: 335-338. PMID 11092749 DOI: 10.3109/10425170009033252 |
0.373 |
|
| 2000 |
Real FX, Bertranpetit J, Estivill X. Genes as causes: scientific fact or simplistic thinking? Journal of Epidemiology and Community Health. 54: 559-559. PMID 10991647 DOI: 10.1136/Jech.54.7.559 |
0.398 |
|
| 2000 |
Rabionet R, Zelante L, López-Bigas N, D'Agruma L, Melchionda S, Restagno G, Arbonés ML, Gasparini P, Estivill X. Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene. Human Genetics. 106: 40-4. PMID 10982180 DOI: 10.1007/S004390051007 |
0.675 |
|
| 2000 |
Rabionet R, Gasparini P, Estivill X. Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins. Human Mutation. 16: 190-202. PMID 10980526 DOI: 10.1002/1098-1004(200009)16:3<190::Aid-Humu2>3.0.Co;2-I |
0.687 |
|
| 2000 |
Nadal M, Valiente A, Domènech A, Pritchard M, Estivill X, Ramos-Arroyo MA. Hereditary neuropathy with liability to pressure palsies: two cases with a reciprocal translocation t(16;17)(q12;p11.2) interrupting the PMP22 gene Journal of Medical Genetics. 37: 396-398. PMID 10905899 DOI: 10.1136/Jmg.37.5.396 |
0.372 |
|
| 2000 |
Casals T, Bassas L, Egozcue S, Ramos MD, Giménez J, Segura A, Garcia F, Carrera M, Larriba S, Sarquella J, Estivill X. Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens. Human Reproduction (Oxford, England). 15: 1476-83. PMID 10875853 DOI: 10.1093/Humrep/15.7.1476 |
0.367 |
|
| 2000 |
Fuentes JJ, Genescà L, Kingsbury TJ, Cunningham KW, Pérez-Riba M, Estivill X, de la Luna S. DSCR1, overexpressed in Down syndrome, is an inhibitor of calcineurin-mediated signaling pathways. Human Molecular Genetics. 9: 1681-90. PMID 10861295 DOI: 10.1093/Hmg/9.11.1681 |
0.342 |
|
| 2000 |
Carim L, Sumoy L, Andreu N, Estivill X, Escarceller M. Identification and expression analysis of C15orf3, a novel gene on chromosome 15q21.1→q21.2 Cytogenetic and Genome Research. 88: 330-332. PMID 10828624 DOI: 10.1159/000015523 |
0.357 |
|
| 2000 |
Kilinç MO, Ninis VN, Tolun A, Estivill X, Casals T, Savov A, Dagli E, Karakoç F, Demirkol M, Hüner G, Ozkinay F, Demir E, Seculi JL, Pena J, Bousono C, et al. Genotype-phenotype correlation in three homozygotes for the cystic fibrosis mutation 2183AA-->G shows a severe phenotype. Journal of Medical Genetics. 37: 307-9. PMID 10819640 DOI: 10.1136/Jmg.37.4.307 |
0.389 |
|
| 2000 |
Milà M, Castellvı́-Bel S, Sánchez A, Barceló A, Badenas C, Mallolas J, Estivill X. Rare variants in the promoter of the fragile X syndrome gene (FMR1). Molecular and Cellular Probes. 14: 115-119. PMID 10799273 DOI: 10.1006/Mcpr.2000.0293 |
0.346 |
|
| 2000 |
Dörk T, Macek M, Mekus F, Tümmler B, Tzountzouris J, Casals T, Krebsová A, Koudová M, Sakmaryová I, Vávrová V, Zemková D, Ginter E, Petrova NV, Ivaschenko T, Baranov V, ... ... Estivill X, et al. Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe Human Genetics. 106: 259-268. PMID 10798353 DOI: 10.1007/S004390000246 |
0.428 |
|
| 2000 |
Fillat C, Espaol T, Oset M, Cavieres M, Borgo Pd, Estivill X, Volpini V. Two novel mutations in the WASP gene in Wiskott-Aldrich patients of Chile origin: W64R and A124E. Human Mutation. 15: 487-487. PMID 10790228 DOI: 10.1002/(Sici)1098-1004(200005)15:5<487::Aid-Humu28>3.0.Co;2-G |
0.338 |
|
| 2000 |
López-Bigas N, Rabionet R, Martínez E, Banchs I, Volpini V, Vance JM, Arbonés ML, Estivill X. Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene. Human Mutation. 15: 481-2. PMID 10790215 DOI: 10.1002/(Sici)1098-1004(200005)15:5<481::Aid-Humu15>3.0.Co;2-7 |
0.632 |
|
| 2000 |
Espinosa-Parrilla Y, Morell M, Borrell M, Souto JC, Fontcuberta J, Estivill X, Sala N. Optimization of a simple and rapid single-strand conformation analysis for detection of mutations in the PROS1 gene: identification of seven novel mutations and three novel, apparently neutral, variants. Human Mutation. 15: 463-473. PMID 10790208 DOI: 10.1002/(Sici)1098-1004(200005)15:5<463::Aid-Humu8>3.0.Co;2-E |
0.397 |
|
| 2000 |
Bykhovskaya Y, Estivill X, Taylor K, Hang T, Hamon M, Casano RAMS, Yang H, Rotter JI, Shohat M, Fischel-Ghodsian N. Candidate locus for a nuclear modifier gene for maternally inherited deafness. American Journal of Human Genetics. 66: 1905-1910. PMID 10788333 DOI: 10.1086/302914 |
0.423 |
|
| 2000 |
Sumoy L, Carim L, Escarceller M, Nadal M, Gratacòs M, Pujana MA, Estivill X, Peral B. HMG20A and HMG20B map to human chromosomes 15q24 and 19p13.3 and constitute a distinct class of HMG-box genes with ubiquitous expression. Cytogenetic and Genome Research. 88: 62-67. PMID 10773667 DOI: 10.1159/000015486 |
0.303 |
|
| 2000 |
Solans A, Estivill X, Luna Sdl. Cloning and characterization of human FTCD on 21q22.3, a candidate gene for glutamate formiminotransferase deficiency Cytogenetic and Genome Research. 88: 43-49. PMID 10773664 DOI: 10.1159/000015483 |
0.357 |
|
| 2000 |
Bombieri C, Giorgi S, Carles S, de Cid R, Belpinati F, Tandoi C, Pallares-Ruiz N, Lazaro C, Ciminelli BM, Romey MC, Casals T, Pompei F, Gandini G, Claustres M, Estivill X, et al. A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals. Human Genetics. 106: 172-8. PMID 10746558 DOI: 10.1007/S004390051025 |
0.376 |
|
| 2000 |
López-Bigas N, Rabionet R, Martinez E, Bravo O, Girons J, Borragan A, Pellicer M, Arbonés ML, Estivill X. Mutations in the mitochondrial tRNA Ser(UCN) and in the GJB2 (connexin 26) gene are not modifiers of the age at onset or severity of hearing loss in Spanish patients with the 12S rRNA A1555G mutation. American Journal of Human Genetics. 66: 1465-7. PMID 10739773 DOI: 10.1086/302870 |
0.651 |
|
| 2000 |
Gasparini P, Rabionet R, Barbujani G, Melçhionda S, Petersen M, Brøndum-Nielsen K, Metspalu A, Oitmaa E, Pisano M, Fortina P, Zelante L, Estivill X. High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG. European Journal of Human Genetics : Ejhg. 8: 19-23. PMID 10713883 DOI: 10.1038/Sj.Ejhg.5200406 |
0.676 |
|
| 2000 |
Laitinen T, Ollikainen V, Lázaro C, Kauppi P, Cid Rd, Antó JM, Estivill X, Lokki H, Mannila H, Laitinen LA, Kere J. Association Study of the Chromosomal Region Containing the FCER2 Gene Suggests It Has a Regulatory Role in Atopic Disorders American Journal of Respiratory and Critical Care Medicine. 161: 700-706. PMID 10712310 DOI: 10.1164/Ajrccm.161.3.9810056 |
0.398 |
|
| 2000 |
Ars E, Serra E, García J, Kruyer H, Gaona A, Lázaro C, Estivill X. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1 Human Molecular Genetics. 9: 237-247. PMID 10607834 DOI: 10.1093/Hmg/9.2.237 |
0.393 |
|
| 2000 |
López-Bigas N, Rabionet R, de Cid R, Govea N, Gasparini P, Zelante L, Arbonés ML, Estivill X. Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome. Human Mutation. 14: 520-6. PMID 10571950 DOI: 10.1002/(Sici)1098-1004(199912)14:6<520::Aid-Humu11>3.0.Co;2-K |
0.662 |
|
| 2000 |
Espinosa-Parrilla Y, Navarro G, Morell M, Abella E, Estivill X, Sala N. Homozygosity for the protein S Heerlen allele is associated with type I PS deficiency in a thrombophilic pedigree with multiple risk factors. Thrombosis and Haemostasis. 83: 102-106. DOI: 10.1055/S-0037-1613764 |
0.329 |
|
| 1999 |
Fuentes JJ, Dierssen M, Pucharcós C, Fillat C, Casas C, Estivill X, Pritchard M. Application of Alu-splice PCR on chromosome 21: DSCR1 and Intersectin. Journal of Neural Transmission-Supplement. 57: 337-352. PMID 10666688 DOI: 10.1007/978-3-7091-6380-1_24 |
0.677 |
|
| 1999 |
Carim L, Sumoy L, Nadal M, Estivill X, Escarceller M. Cloning, expression, and mapping of PDCD9, the human homolog of Gallus gallus pro-apoptotic protein p52. Cytogenetic and Genome Research. 87: 85-88. PMID 10640817 DOI: 10.1159/000015397 |
0.303 |
|
| 1999 |
Mallolas J, Vilaseca MA, Campistol J, Lambruschini N, Cambra FJ, Estivill X, Milà M. Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation. Human Genetics. 105: 468-473. PMID 10598814 DOI: 10.1007/S004390051132 |
0.397 |
|
| 1999 |
Lzaro C, Cid Rd, Sunyer J, Soriano J, Gimnez J, lvarez M, Casals T, Ant JM, Estivill X. Missense mutations in the cystic fibrosis gene in adult patients with asthma. Human Mutation. 14: 510-519. PMID 10571949 DOI: 10.1002/(Sici)1098-1004(199912)14:6<510::Aid-Humu10>3.0.Co;2-O |
0.362 |
|
| 1999 |
Ruiz A, Nadal M, Puig S, Estivill X. Cloning of the human phospholipase A2 activating protein (hPLAP) gene on the chromosome 9p21 melanoma deleted region Gene. 239: 155-161. PMID 10571045 DOI: 10.1016/S0378-1119(99)00354-6 |
0.374 |
|
| 1999 |
Correa CL, Brems H, Lázaro C, Estivill X, Clementi M, Mason S, Rutkowski JL, Marynen P, Legius E. Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions. Human Mutation. 14: 387-393. PMID 10533064 DOI: 10.1002/(Sici)1098-1004(199911)14:5<387::Aid-Humu4>3.0.Co;2-4 |
0.37 |
|
| 1999 |
Torroni A, Cruciani F, Rengo C, Sellitto D, López-Bigas N, Rabionet R, Govea N, López De Munain A, Sarduy M, Romero L, Villamar M, del Castillo I, Moreno F, Estivill X, Scozzari R. The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness. American Journal of Human Genetics. 65: 1349-58. PMID 10521300 DOI: 10.1086/302642 |
0.671 |
|
| 1999 |
Feliubadaló L, Bisceglia L, Font M, Dello Strologo L, Beccia E, Arslan-Kirchner M, Steinmann B, Zelante L, Estivill X, Zorzano A, Palacín M, Gasparini P, Nunes V. Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1. Genomics. 60: 362-5. PMID 10493835 DOI: 10.1006/Geno.1999.5928 |
0.346 |
|
| 1999 |
Pucharcós C, Fuentes JJ, Casas C, de la Luna S, Alcántara S, Arbonés ML, Soriano E, Estivill X, Pritchard M. Alu-splice cloning of human Intersectin (ITSN), a putative multivalent binding protein expressed in proliferating and differentiating neurons and overexpressed in Down syndrome. European Journal of Human Genetics : Ejhg. 7: 704-12. PMID 10482960 DOI: 10.1038/Sj.Ejhg.5200356 |
0.688 |
|
| 1999 |
Feliubadaló L, Font M, Purroy J, Rousaud F, Estivill X, Nunes V, Golomb E, Centola M, Aksentijevich I, Kreiss Y, Goldman B, Pras M, Kastner DL, Pras E, Gasparini P, et al. Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT. Nature Genetics. 23: 52-7. PMID 10471498 DOI: 10.1038/12652 |
0.364 |
|
| 1999 |
Grifa A, Wagner CA, D'Ambrosio L, Melchionda S, Bernardi F, Lopez-Bigas N, Rabionet R, Arbones M, Monica MD, Estivill X, Zelante L, Lang F, Gasparini P. Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. Nature Genetics. 23: 16-8. PMID 10471490 DOI: 10.1038/12612 |
0.657 |
|
| 1999 |
Pujana MA, Corral J, Gratacòs M, Combarros O, Berciano J, Genís D, Banchs I, Estivill X, Volpini V. Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases Human Genetics. 104: 516-522. PMID 10453742 DOI: 10.1007/S004390050997 |
0.411 |
|
| 1999 |
Ars E, Kruyer H, Gaona A, Serra E, Lázaro C, Estivill X. Prenatal diagnosis of sporadic neurofibromatosis type 1 (NF1) by RNA and DNA analysis of a splicing mutation. Prenatal Diagnosis. 19: 739-742. PMID 10451518 DOI: 10.1002/(Sici)1097-0223(199908)19:8<739::Aid-Pd626>3.0.Co;2-A |
0.384 |
|
| 1999 |
Espinosa-Parrilla Y, Morell M, Souto JC, Tirado I, Fontcuberta J, Estivill X, Sala N. Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency. Human Mutation. 14: 30-39. PMID 10447256 DOI: 10.1002/(Sici)1098-1004(1999)14:1<30::Aid-Humu4>3.0.Co;2-X |
0.368 |
|
| 1999 |
Torra R, Badenas C, Millán JLS, Pérez-Oller L, Estivill X, Darnell A. A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2. American Journal of Human Genetics. 65: 345-352. PMID 10417277 DOI: 10.1086/302501 |
0.415 |
|
| 1999 |
Castellví‐Bel S, Sánchez A, Badenas C, Mallolas J, Barceló A, Jiménez D, Villa M, Estivill X, Milà M. Single-strand conformation polymorphism analysis in the FMR1 gene. American Journal of Medical Genetics. 84: 262-265. PMID 10331603 DOI: 10.1002/(Sici)1096-8628(19990528)84:3<262::Aid-Ajmg18>3.0.Co;2-V |
0.401 |
|
| 1999 |
Guimera J, Casas C, Estivill X, Pritchard M. Human minibrain homologue (MNBH/DYRK1): Characterization, alternative splicing, differential tissue expression, and overexpression in Down syndrome Genomics. 57: 407-418. PMID 10329007 DOI: 10.1006/Geno.1999.5775 |
0.694 |
|
| 1999 |
Badenas C, Torra R, Millán JLS, Lucero L, Milà M, Estivill X, Darnell A. Mutational analysis within the 3' region of the PKD1 gene. Kidney International. 55: 1225-1233. PMID 10200984 DOI: 10.1046/J.1523-1755.1999.00368.X |
0.428 |
|
| 1999 |
Manzano A, Pérez JX, Nadal M, Estivill X, Lange A, Bartrons R. Cloning, expression and chromosomal localization of a human testis 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase gene. Gene. 229: 83-9. PMID 10095107 DOI: 10.1016/S0378-1119(99)00037-2 |
0.32 |
|
| 1999 |
Leder S, Weber Y, Altafaj X, Estivill X, Joost HG, Becker W. Cloning and characterization of DYRK1B, a novel member of the DYRK family of protein kinases. Biochemical and Biophysical Research Communications. 254: 474-9. PMID 9918863 DOI: 10.1006/Bbrc.1998.9967 |
0.323 |
|
| 1999 |
Ruiz A, Puig S, Malvehy J, Lázaro C, Lynch M, Gimenez-Arnau AM, Puig L, Sánchez-Conejo J, Estivill X, Castel T. CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia. Journal of Medical Genetics. 36: 490-493. DOI: 10.1136/Jmg.36.6.490 |
0.375 |
|
| 1999 |
Rabionet R, Estivill X. Allele specific oligonucleotide analysis of the common deafness mutation 35delG in the connexin 26 (GJB2) gene Journal of Medical Genetics. 36: 260-261. DOI: 10.1136/Jmg.36.3.260 |
0.686 |
|
| 1999 |
Estivill X, Rabionet R. Chapter 22: Molecular Basis of Deafness due to Mutations in the Connexin26 Gene (GJB2) Current Topics in Membranes. 49: 483-508. DOI: 10.1016/S0070-2161(08)61026-6 |
0.671 |
|
| 1999 |
Pujana MA, Corral J, Gratacòs M, Combarros O, Berciano J, Genís D, Banchs I, Estivill X, Volpini V. Erratum to: Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases Human Genetics. 105: 376-376. DOI: 10.1007/S004399900163 |
0.305 |
|
| 1998 |
Manzano A, Rosa JL, Ventura F, Pérez JX, Nadal M, Estivill X, Ambrosio S, Gil J, Bartrons R. Molecular cloning, expression, and chromosomal localization of a ubiquitously expressed human 6-phosphofructo-2-kinase/ fructose-2, 6-bisphosphatase gene (PFKFB3). Cytogenetic and Genome Research. 83: 214-217. PMID 10072580 DOI: 10.1159/000015181 |
0.318 |
|
| 1998 |
Larriba S, Bassas L, Gimenez J, Ramos MD, Segura A, Nunes V, Estivill X, Casals T. Testicular CFTR splice variants in patients with congenital absence of the vas deferens. Human Molecular Genetics. 7: 1739-43. PMID 9736775 DOI: 10.1093/Hmg/7.11.1739 |
0.358 |
|
| 1998 |
Llevadot R, Marqués G, Pritchard M, Estivill X, Ferrús A, Scambler P. Cloning, chromosome mapping and expression analysis of the HIRA gene from Drosophila melanogaster Biochemical and Biophysical Research Communications. 249: 486-491. PMID 9712723 DOI: 10.1006/Bbrc.1998.9165 |
0.36 |
|
| 1998 |
Torra R, Badenas C, Darnell A, Camacho JA, Aspinwall R, Harris PC, Estivill X. Facilitated diagnosis of the contiguous gene syndrome: tuberous sclerosis and polycystic kidneys by means of haplotype studies. American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation. 31: 1038-43. PMID 9631851 DOI: 10.1053/Ajkd.1998.V31.Pm9631851 |
0.384 |
|
| 1998 |
Ruiz A, Puig S, Lynch M, Castel T, Estivill X. Retention of the CDKN2A locus and low frequency of point mutations in primary and metastasic cutaneous malignant melanoma International Journal of Cancer. 76: 312-316. PMID 9579564 DOI: 10.1002/(Sici)1097-0215(19980504)76:3<312::Aid-Ijc4>3.0.Co;2-Y |
0.38 |
|
| 1998 |
Ars E, Kruyer H, Gaona A, Casquero P, Rosell J, Volpini V, Serra E, Lázaro C, Estivill X. A Clinical Variant of Neurofibromatosis Type 1: Familial Spinal Neurofibromatosis with a Frameshift Mutation in the NF1 Gene American Journal of Human Genetics. 62: 834-841. PMID 9529361 DOI: 10.1086/301803 |
0.362 |
|
| 1998 |
Llevadot R, Estivill X, Scambler P, Pritchard M. Isolation and genomic characterization of the TUPLE1/HIRA gene of the pufferfish Fugu rubripes. Gene. 208: 279-283. PMID 9524281 DOI: 10.1016/S0378-1119(98)00010-9 |
0.35 |
|
| 1998 |
Pujana MA, Volpini V, Gratacós M, Corral J, Banchs I, Sánchez A, Genís D, Cervera C, Estivill X. Uncloned expanded CAG/CTG repeat sequences in autosomal dominant cerebellar ataxia (ADCA) detected by the repeat expansion detection (RED) method. Journal of Medical Genetics. 35: 99-102. PMID 9507387 DOI: 10.1136/Jmg.35.2.99 |
0.39 |
|
| 1998 |
Estivill X, Govea N, Barceló A, Perelló E, Badenas C, Romero E, Moral L, Scozzari R, D'Urbano L, Zeviani M, Torroni A. Familial Progressive Sensorineural Deafness Is Mainly Due to the mtDNA A1555G Mutation and Is Enhanced by Treatment with Aminoglycosides American Journal of Human Genetics. 62: 27-35. PMID 9490575 DOI: 10.1086/301676 |
0.324 |
|
| 1998 |
Estivill X, Fortina P, Surrey S, Rabionet R, Melchionda S, D'Agruma L, Mansfield E, Rappaport E, Govea N, Milà M, Zelante L, Gasparini P. Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet (London, England). 351: 394-8. PMID 9482292 DOI: 10.1016/S0140-6736(97)11124-2 |
0.669 |
|
| 1998 |
Pujana MA, Volpini V, Estivill X. Large CAG/CTG repeat templates produced by PCR, usefulness for the DIRECT method of cloning genes with CAG/CTG repeat expansions Nucleic Acids Research. 26: 1352-1353. PMID 9469848 DOI: 10.1093/Nar/26.5.1352 |
0.334 |
|
| 1998 |
Torra R, Badenas C, Peral B, Darnell A, Serra E, Gamble V, Turco AE, Harris PC, Estivill X. Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British families Human Mutation. 11: 117-120. PMID 9452060 DOI: 10.1002/Humu.1380110139 |
0.316 |
|
| 1998 |
Casals T, Ramos MD, Giménez J, Nadal M, Nunes V, Estivill X. Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis. Human Mutation. S99-102. PMID 9452054 DOI: 10.1002/Humu.1380110133 |
0.337 |
|
| 1998 |
Puig S, Ruiz A, Castel T, Volpini V, Malvehy J, Cardellach F, Lynch M, Mascaro JM, Estivill X. Inherited susceptibility to several cancers but absence of linkage between dysplastic nevus syndrome and CDKN2A in a melanoma family with a mutation in the CDKN2A (P16INK4A) gene. Human Genetics. 101: 359-64. PMID 9439668 DOI: 10.1007/S004390050642 |
0.373 |
|
| 1998 |
Mansfield ES, Vainer M, Harris DW, Gasparini P, Estivill X, Surrey S, Fortina P. Rapid sizing of polymorphic microsatellite markers by capillary array electrophoresis. Journal of Chromatography. A. 781: 295-305. PMID 9368392 DOI: 10.1016/S0021-9673(97)00542-6 |
0.327 |
|
| 1998 |
Zelante L, Gasparini P, Estivill X, Melchionda S, D'Agruma L, Govea N, Milá M, Monica MD, Lutfi J, Shohat M, Mansfield E, Delgrosso K, Rappaport E, Surrey S, Fortina P. Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Human Molecular Genetics. 6: 1605-9. PMID 9285800 DOI: 10.1093/Hmg/6.9.1605 |
0.463 |
|
| 1998 |
Puig S, Malvehy J, Ruiz A, Lázaro C, Volpini V, Cardellach F, Lecha M, Estivill X, Castel T. Incidence of CDKN2A mutations in melanoma families: Inherited susceptibility to several cancers but not always association with dysplastic nevus syndrome Journal of Dermatological Science. 16: S145. DOI: 10.1016/S0923-1811(98)83866-8 |
0.328 |
|
| 1997 |
Casals T, Ramos MD, Giménez J, Larriba S, Nunes V, Estivill X. High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes. Human Genetics. 101: 365-70. PMID 9439669 DOI: 10.1007/S004390050643 |
0.376 |
|
| 1997 |
Martorell L, Pujana MA, Volpini V, Sanchez A, Joven J, Vilella E, Estivill X. The Repeat Expansion Detection Method in the Analysis of Diseases With CAG/CTG Repeat Expansion: Usefulness and Limitations Human Mutation. 10: 486-488. PMID 9401013 DOI: 10.1002/(Sici)1098-1004(1997)10:6<486::Aid-Humu11>3.0.Co;2-W |
0.318 |
|
| 1997 |
Badenas C, Torra R, Darnell A, Estivill X. Mutations and Intragenic Polymorphisms in the Diagnosis of Autosomal Dominant Polycystic Kidney Disease Type 1 Contributions to Nephrology. 122: 45-48. PMID 9399037 DOI: 10.1159/000059890 |
0.341 |
|
| 1997 |
Pujana MA, Gratacós M, Corral J, Banchs I, Sánchez A, Genís D, Cervera C, Volpini V, Estivill X. Polymorphisms at 13 expressed human sequences containing CAG/CTG repeats and analysis in autosomal dominant cerebellar ataxia (ADCA) patients Human Genetics. 101: 18-21. PMID 9385362 DOI: 10.1007/S004390050578 |
0.4 |
|
| 1997 |
Casals T, Pacheco P, Barreto C, Giménez J, Ramos MD, Pereira S, Pinheiro JA, Cobos N, Curvelo A, Vázquez C, Rocha H, Séculi JL, Pérez E, Dapena J, Carrilho E, ... ... Estivill X, et al. Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: study of 19 heterozygous and 2 homozygous patients. Human Mutation. 10: 387-92. PMID 9375855 DOI: 10.1002/(Sici)1098-1004(1997)10:5<387::Aid-Humu9>3.0.Co;2-C |
0.347 |
|
| 1997 |
Soriano JB, Ercilla G, Sunyer J, Real FX, Lázaro C, Rodrigo MJ, Estivill X, Roca J, Rodríguez-Roisín R, Morell F, Antó JM. HLA Class II Genes in Soybean Epidemic Asthma Patients American Journal of Respiratory and Critical Care Medicine. 156: 1394-1398. PMID 9372651 DOI: 10.1164/Ajrccm.156.5.9701064 |
0.313 |
|
| 1997 |
Guimera J, Pucharcós C, Domènech A, Casas C, Solans A, Gallardo T, Ashley J, Lovett M, Estivill X, Pritchard M. Cosmid contig and transcriptional map of three regions of human chromosome 21q22: identification of 37 novel transcripts by direct selection. Genomics. 45: 59-67. PMID 9339361 DOI: 10.1006/Geno.1997.4861 |
0.68 |
|
| 1997 |
Serra E, Puig S, Otero D, Gaona A, Kruyer H, Ars E, Estivill X, Lázaro C. Confirmation of a double-hit model for the NF1 gene in benign neurofibromas. American Journal of Human Genetics. 61: 512-519. PMID 9326316 DOI: 10.1086/515504 |
0.36 |
|
| 1997 |
Fuentes JJ, Pritchard MA, Estivill X. Genomic organization, alternative splicing, and expression patterns of the DSCR1 (Down syndrome candidate region 1) gene. Genomics. 44: 358-361. PMID 9325060 DOI: 10.1006/Geno.1997.4866 |
0.351 |
|
| 1997 |
Guimera J, Pritchard M, Nadal M, Estivill X. Minibrain (MNBH) is a single copy gene mapping to human chromosome 21q22.2 Cytogenetics and Cell Genetics. 77: 182-184. PMID 9284911 DOI: 10.1159/000134571 |
0.307 |
|
| 1997 |
Estivill X, Bancells C, Ramos C. Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations Human Mutation. 10: 135-154. PMID 9259197 DOI: 10.1002/(Sici)1098-1004(1997)10:2<135::Aid-Humu6>3.0.Co;2-J |
0.342 |
|
| 1997 |
Jordanova A, Kalaydjieva L, Savov A, Claustres M, Schwarz M, Estivill X, Angelicheva D, Haworth A, Casals T, Kremensky I. SSCP analysis: A blind sensitivity trial Human Mutation. 10: 65-70. PMID 9222762 DOI: 10.1002/(Sici)1098-1004(1997)10:1<65::Aid-Humu9>3.0.Co;2-L |
0.35 |
|
| 1997 |
Torra R, Badenas C, Darnell A, Brú C, Escorsell A, Estivill X. Autosomal dominant polycystic kidney disease with anticipation and Caroli's disease associated with a PKD1 mutation rapid communication Kidney International. 52: 33-38. PMID 9211343 DOI: 10.1038/Ki.1997.300 |
0.368 |
|
| 1997 |
Pujana MA, Martorell L, Volpini V, Valero J, Labad A, Vilella E, Estivill X. Analysis of amino-acid and nucleotide variants in the spinocerebellar ataxia type 1 (SCA1) gene in schizophrenic patients. Human Genetics. 99: 772-775. PMID 9187671 DOI: 10.1007/S004390050446 |
0.356 |
|
| 1997 |
Sánchez A, Milà M, Castellví-Bel S, Rosich M, Jiménez D, Badenas C, Estivill X. Maternal transmission in sporadic Huntington's disease. Journal of Neurology, Neurosurgery, and Psychiatry. 62: 535-537. PMID 9153618 DOI: 10.1136/Jnnp.62.5.535 |
0.368 |
|
| 1997 |
Lázaro C, Gaona A, Ainsworth P, Tenconi R, Vidaud D, Kruyer H, Ars E, Volpini V, Estivill X. Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients. Human Genetics. 98: 696-9. PMID 8931703 DOI: 10.1007/S004390050287 |
0.371 |
|
| 1997 |
Purroy J, Bisceglia L, Calonge MJ, Zelante L, Testar X, Zorzano A, Estivill X, Palacín M, Nunes V, Gasparini P. Genomic structure and organization of the human rBAT gene (SLC3A1). Genomics. 37: 249-52. PMID 8921402 DOI: 10.1006/Geno.1996.0552 |
0.37 |
|
| 1997 |
Espinosa-Parrilla Y, Morell M, Souto JC, Borrell M, Heine-Suñer D, Tirado I, Volpini V, Estivill X, Sala N. Absence of Linkage Between Type III Protein S Deficiency and the PROS1 and C4BP Genes in Families Carrying the Protein S Heerlen Allele Blood. 89: 2799-2806. DOI: 10.1182/Blood.V89.8.2799 |
0.371 |
|
| 1997 |
Gasparini P, Estivill X, Volpini V, Totaro A, Castellvi-Bel S, Govea N, Mila M, Monica MD, Ventruto V, Benedetto MD, Stanziale P, Zelante L, Mansfield ES, Sandkuijl L, Surrey S, et al. Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families. European Journal of Human Genetics. 5: 83-88. DOI: 10.1007/Bf03405882 |
0.37 |
|
| 1996 |
Llevadot R, Scambler P, Estivill X, Pritchard M. Genomic organization of TUPLE1/HIRA: a gene implicated in DiGeorge syndrome. Mammalian Genome. 7: 911-914. PMID 8995764 DOI: 10.1007/S003359900268 |
0.357 |
|
| 1996 |
Sánchez A, Castellví-Bel S, Milà M, Genis D, Calopa M, Jiménez D, Estivill X. Huntington's disease: confirmation of diagnosis and presymptomatic testing in Spanish families by genetic analysis. Journal of Neurology, Neurosurgery, and Psychiatry. 61: 625-627. PMID 8971113 DOI: 10.1136/Jnnp.61.6.625 |
0.342 |
|
| 1996 |
Vazquez C, Antinolo G, Casals T, Dapena J, Elorz J, Seculi JL, Sirvent J, Cabanas R, Soler C, Estivill X. Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: A pancreatic sufficiency/insufficiency mutation with variable clinical presentation Journal of Medical Genetics. 33: 820-822. PMID 8933333 DOI: 10.1136/Jmg.33.10.820 |
0.358 |
|
| 1996 |
Barceló A, Girós M, Albiach VJ, Vaquerizo J, Pàmpols T, Estivill X. Identification of two new nonsense mutations (Q311X and W326X) in Exon 2 of the adrenoleukodystrophy (ALD) gene. Human Mutation. 8: 286-287. PMID 8889593 DOI: 10.1002/(Sici)1098-1004(1996)8:3<286::Aid-Humu17>3.0.Co;2-Z |
0.373 |
|
| 1996 |
Guimerá J, Casas C, Pucharcòs C, Solans A, Domènech A, Planas AM, Ashley J, Lovett M, Estivill X, Pritchard MA. A human homologue of Drosophila minibrain (MNB) is expressed in the neuronal regions affected in Down syndrome and maps to the critical region. Human Molecular Genetics. 5: 1305-10. PMID 8872470 DOI: 10.1093/Hmg/5.9.1305 |
0.678 |
|
| 1996 |
Morral N, Dörk T, Llevadot R, Dziadek V, Mercier B, Férec C, Costes B, Girodon E, Zielenski J, Tsui LC, Tümmler B, Estivill X. Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers Human Mutation. 8: 149-159. PMID 8844213 DOI: 10.1002/(Sici)1098-1004(1996)8:2<149::Aid-Humu7>3.0.Co;2-6 |
0.387 |
|
| 1996 |
Soria JM, Morell M, Estivill X, Sala N. Recurrence of the PROC gene mutation R178Q: Independent origins in Spanish protein C deficiency patients Human Mutation. 8: 71-73. PMID 8807339 DOI: 10.1002/(Sici)1098-1004(1996)8:1<71::Aid-Humu10>3.0.Co;2-O |
0.357 |
|
| 1996 |
Nadal M, Milà M, Pritchard M, Mur A, Pujals J, Blouin JL, Antonarakis SE, Ballesta F, Estivill X. YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome. Human Genetics. 98: 460-6. PMID 8792823 DOI: 10.1007/S004390050240 |
0.31 |
|
| 1996 |
Bisceglia L, Calonge MJ, Dello Strologo L, Rizzoni G, de Sanctis L, Gallucci M, Beccia E, Testar X, Zorzano A, Estivill X, Zelante L, Palacin M, Gasparini P, Nunes V. Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism. Human Genetics. 98: 447-51. PMID 8792820 DOI: 10.1007/S004390050237 |
0.424 |
|
| 1996 |
Milà M, Castellví-Bel S, Giné R, Vazquez C, Badenas C, Sánchez A, Estivill X. A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion Human Genetics. 98: 419-421. PMID 8792815 DOI: 10.1007/S004390050232 |
0.333 |
|
| 1996 |
Milà M, Castellví-Bel S, Sánchez A, Lázaro C, Villa M, Estivill X. Mosaicism for the fragile X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene. Journal of Medical Genetics. 33: 338-340. PMID 8730293 DOI: 10.1136/Jmg.33.4.338 |
0.388 |
|
| 1996 |
Casals T, Gimenez J, Ramos MD, Nunes V, Estivill X. Prenatal diagnosis of cystic fibrosis in a highly heterogeneous population. Prenatal Diagnosis. 16: 215-22. PMID 8710774 DOI: 10.1002/(Sici)1097-0223(199603)16:3<215::Aid-Pd838>3.0.Co;2-7 |
0.364 |
|
| 1996 |
Claustres M, Desgeorges M, Moine P, Morral N, Estivill X. CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France. Human Genetics. 98: 336-344. PMID 8707306 DOI: 10.1007/S004390050219 |
0.415 |
|
| 1996 |
Tümmler B, Storrs T, Dziadek V, Dörk T, Meitinger T, Golla A, Bertele-Harms RM, Harms HK, Schröder E, Claass A, Rutjes J, Schneppenheim R, Bauer I, Breuel K, Stuhrmann M, ... ... Estivill X, et al. Geographic distribution and origin of CFTR mutations in Germany. Human Genetics. 97: 727-31. PMID 8641688 DOI: 10.1007/Bf02346181 |
0.359 |
|
| 1996 |
Barrientos A, Volpini V, Casademont J, Genís D, Manzanares JM, Ferrer I, Corral J, Cardellach F, Urbano-Márquez A, Estivill X, Nunes V. A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome. The Journal of Clinical Investigation. 97: 1570-6. PMID 8601620 DOI: 10.1172/Jci118581 |
0.355 |
|
| 1996 |
Soria JM, Berg L, Fontcuberta J, Kakkar VV, Estivill X, Cooper DN, Sala N. Ectopic transcript analysis indicates that allelic exclusion is an important cause of type I protein C deficiency in patients with nonsense and frameshift mutations in the PROC gene. Thrombosis and Haemostasis. 75: 870-876. DOI: 10.1055/S-0038-1650386 |
0.378 |
|
| 1995 |
Fuentes J, Pritchard MA, Planas AM, Bosch A, Ferrer I, Estivill X. A new human gene from the Down syndrome critical region encodes a proline-rich protein highly expressed in fetal brain and heart Human Molecular Genetics. 4: 1935-1944. PMID 8595418 DOI: 10.1093/Hmg/4.10.1935 |
0.341 |
|
| 1995 |
Derry JM, Kerns JA, Weinberg KI, Ochs HD, Volpini V, Estivill X, Walker AP, Francke U. WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. Human Molecular Genetics. 4: 1127-35. PMID 8528199 DOI: 10.1093/Hmg/4.7.1127 |
0.396 |
|
| 1995 |
Bosch A, Guimerà J, Wiemann S, Ansorge W, Patterson D, Estivill X. Identification of two highly polymorphic CA-repeats (D21S1224 and D21S1261) on human chromosome 21q22.3 Human Genetics. 95: 367-369. PMID 7868138 DOI: 10.1007/Bf00225213 |
0.308 |
|
| 1995 |
Estivill X, Llevadot R, Giménez J, Nunes V, Casals T, Ortigosa L, Pérez-Frias J, Dapena J, Ferrer J, Peña J, Peña L, Cobos N, Vázquez C. Clinical characteristics of 16 cystic fibrosis patients with the missense mutation R334W, a pancreatic insufficiency mutation with variable age of onset and interfamilial clinical differences Human Genetics. 95: 331-336. PMID 7868128 DOI: 10.1007/Bf00225203 |
0.34 |
|
| 1995 |
Barceló A, Girós M, Sarde CO, Pintos G, Mandel JL, Pàmpols T, Estivill X. De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene. Human Genetics. 95: 235-7. PMID 7860075 DOI: 10.1007/Bf00209412 |
0.378 |
|
| 1995 |
Genis D, Matilla T, Volpini V, Rosell J, Davalos A, Ferrer I, Molins A, Estivill X. Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred: (CAG)n expansion and early premonitory signs and symptoms Neurology. 45: 24-30. PMID 7824128 DOI: 10.1212/Wnl.45.1.24 |
0.349 |
|
| 1995 |
Bosch A, Wiemann S, Guimerá J, Ansorge W, Patterson D, Estivill X. Five new microsatellite polymorphisms at the q21 region of human chromosome 21 Human Genetics. 95: 119-122. PMID 7814016 DOI: 10.1007/Bf00225090 |
0.318 |
|
| 1995 |
Calonge MJ, Nadal M, Calvano S, Testar X, Zelante L, Zorzano A, Estivill X, Gasparini P, Palacín M, Nunes V. Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization. Human Genetics. 95: 633-6. PMID 7789946 DOI: 10.1007/Bf00862064 |
0.348 |
|
| 1995 |
Lazaro C, Gaona A, Ravella A, Volpini V, Estivill X. Prenatal diagnosis of neurofibromatosis type 1: From flanking rflps to intragenic microsatellite markers Prenatal Diagnosis. 15: 129-134. PMID 7784363 DOI: 10.1002/Pd.1970150204 |
0.36 |
|
| 1995 |
Bosch A, Guimerà J, Patterson D, Estivill X. Characterisation of three microsatellite polymorphisms (D21S1262, D21S1419 and D21S1421) from band 21q22.1. Human Genetics. 95: 596-598. PMID 7759089 DOI: 10.1007/Bf00223881 |
0.32 |
|
| 1995 |
Mérel P, Hoang-Xuan K, Sanson M, Moreau-Aubry A, Bijlsma EK, Lazaro C, Moisan JP, Resche F, Nishisho I, Estivill X. Predominant occurrence of somatic mutations of the NF2 gene in meningiomas and schwannomas. Genes, Chromosomes & Cancer. 13: 211-6. PMID 7669741 DOI: 10.1002/Gcc.2870130311 |
0.381 |
|
| 1995 |
Lázaro C, Kruyer H, Gaona A, Estivill X. Two further cases of mutation R1947X in the NF1 gene: screening for a relatively common recurrent mutation Human Genetics. 96: 361-363. PMID 7649559 DOI: 10.1007/Bf00210425 |
0.373 |
|
| 1995 |
Soria JM, Morell M, Estivill X, Sala N. A novel polymorphism (6376 G/T) in intron 7 of the human protein C gene. Human Genetics. 96: 243-244. PMID 7635483 DOI: 10.1007/Bf00207392 |
0.316 |
|
| 1995 |
Barrientos A, Casademont J, Solans A, Moral P, Cardellach F, Urbano-Márquez A, Estivill X, Nunes V. The 9-bp deletion in region V of mitochondrial DNA: evidence of mutation recurrence. Human Genetics. 96: 225-8. PMID 7635476 DOI: 10.1007/Bf00207385 |
0.326 |
|
| 1995 |
Pendás AM, Matilla T, Estivill X, López-Otín C. The human collagenase-3 (CLG3) gene is located on chromosome 11q22.3 clustered to other members of the matrix metalloproteinase gene family. Genomics. 26: 615-618. PMID 7607691 DOI: 10.1016/0888-7543(95)80186-P |
0.32 |
|
| 1995 |
Calonge MJ, Volpini V, Bisceglia L, Rousaud F, Sanctis Ld, Beccia E, Zelante L, Testar X, Zorzano A, Estivill X. Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria Proceedings of the National Academy of Sciences of the United States of America. 92: 9667-9671. PMID 7568194 DOI: 10.1073/Pnas.92.21.9667 |
0.358 |
|
| 1995 |
Casals T, Bassas L, Ruiz-Romero J, Chillón M, Giménez J, Ramos MD, Tapia G, Narváez H, Nunes V, Estivill X. Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected. Human Genetics. 95: 205-11. PMID 7532150 DOI: 10.1007/Bf00209403 |
0.385 |
|
| 1994 |
Bosch A, Nunes V, Patterson D, Estivill X. Isolation and characterization of 14 CA-repeat microsatellites from human chromosome 21. Genomics. 18: 151-5. PMID 8276404 DOI: 10.1006/Geno.1993.1442 |
0.301 |
|
| 1994 |
Pendas AM, Matilla T, Uria JA, Freije JP, Fueyo A, Estivill X, Lopez-Otin C. Mapping of the human Zn-α2-glycoprotein gene (AZGP1) to chromosome 7q22 by in situ hybridization Cytogenetic and Genome Research. 66: 263-266. PMID 8162703 DOI: 10.1159/000133708 |
0.332 |
|
| 1994 |
Lázaro C, Gaona A, Estivill X. Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis type 1 (NF1) gene Human Genetics. 93: 351-352. PMID 8125490 DOI: 10.1007/Bf00212039 |
0.336 |
|
| 1994 |
Banchs I, Bosch A, Guimerà J, Lázaro C, Puig A, Estivill X. New alleles at microsatellite loci in CEPH families mainly arise from somatic mutations in the lymphoblastoid cell lines Human Mutation. 3: 365-372. PMID 8081390 DOI: 10.1002/Humu.1380030407 |
0.38 |
|
| 1994 |
Chillón M, Casals T, Giménez J, Nunes V, Estivill X. A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: description and clinical data. Journal of Medical Genetics. 31: 369-70. PMID 8064813 DOI: 10.1136/Jmg.31.5.369 |
0.346 |
|
| 1994 |
Matilla T, Corral J, Miranda M, Troyano J, Morrison K, Volpini V, Estivill X. Prenatal diagnosis of Werdnig-Hoffmann disease : DNA analysis of a mummified umbilical cord using closely linked microsatellite markers Prenatal Diagnosis. 14: 219-222. PMID 8052572 DOI: 10.1002/Pd.1970140314 |
0.311 |
|
| 1994 |
Lazaro C, Ravella A, Gaona A, Volpini V, Estivill X. Neurofibromatosis type 1 due to germ-line mosaicism in a clinically normal father. The New England Journal of Medicine. 331: 1403-1407. PMID 7969279 DOI: 10.1056/Nejm199411243312102 |
0.376 |
|
| 1994 |
Milà M, Kruyer H, Glover G, Sánchez A, Carbonell P, Castellví-Bel S, Volpini V, Rosell J, Gabarrón J, López I, Villa M, Ballesta F, Estivill X. Molecular analysis of the (CGG)n expansion in the FMR-1 gene in 59 Spanish fragile X syndrome families. Human Genetics. 94: 395-400. PMID 7927336 DOI: 10.1007/Bf00201600 |
0.37 |
|
| 1994 |
Morral N, Bertranpetit J, Estivill X, Nunes V, Casals T, Giménez J, Reis A, Varon-Mateeva R, Macek M, Kalaydjieva L, Angelicheva D, Dancheva R, Romeo G, Russo MP, Garnerone S, et al. The origin of the major cystic fibrosis mutation (ΔF508) in European populations Nature Genetics. 7: 169-175. PMID 7920636 DOI: 10.1038/Ng0694-169 |
0.371 |
|
| 1994 |
Kruyer H, Miranda M, Volpini V, Estivill X. Carrier detection and microsatellite analysis of duchenne and becker muscular dystrophy in spanish families Prenatal Diagnosis. 14: 123-130. PMID 7910399 DOI: 10.1002/Pd.1970140208 |
0.311 |
|
| 1994 |
Barceló A, Girós M, Sarde CO, Martínez-Bermejo A, Mandel JL, Pámpols T, Estivill X. Identification of a new frameshift mutation (1801delAG) in the ALD gene Human Molecular Genetics. 3: 1889-1890. PMID 7849718 DOI: 10.1093/Hmg/3.10.1889 |
0.366 |
|
| 1994 |
Castellví-Bel S, Matilla T, Banchs MI, Kruyer H, Corral J, Milà M, Estivill X. Chemiluminescent detection of blotted PCR products (CB-PCR) of two CAG dynamic mutations (Huntington's disease and spinocerebellar ataxia type 1). Journal of Medical Genetics. 31: 654-655. PMID 7815428 DOI: 10.1136/Jmg.31.8.654 |
0.31 |
|
| 1994 |
Mercier B, Lissens W, Novelli G, Kalaydjieva L, de Arce M, Kapranov N, Canki Klain N, Estivill X, Palacio A, Cashman S. A cluster of cystic fibrosis mutations in exon 17b of the CFTR gene: a site for rare mutations. Journal of Medical Genetics. 31: 731-4. PMID 7529319 DOI: 10.1136/Jmg.31.9.731 |
0.393 |
|
| 1994 |
Mercier B, Raguénès O, Estivill X, Morral N, Kaplan GC, Mcclure M, Grebe TA, Kessler D, Pignatti P, Marigo C, Bombieri C, Audrézet MP, Verlingue C, Férec C. Complete detection of mutations in cystic fibrosis patients of Native American origin Human Genetics. 94: 629-632. PMID 7527370 DOI: 10.1007/Bf00206956 |
0.402 |
|
| 1994 |
Chillón M, Casals T, Giménez J, Nunes V, Estivill X. Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G-->A, and 3667del4). Human Mutation. 3: 223-30. PMID 7517264 DOI: 10.1002/Humu.1380030308 |
0.39 |
|
| 1994 |
Chillón M, Casals T, Giménez J, Ramos MD, Palacio A, Morral N, Estivill X, Nunes V. Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes. Human Genetics. 93: 447-51. PMID 7513293 DOI: 10.1007/Bf00201673 |
0.399 |
|
| 1994 |
Kere J, Estivill X, Chillón M, Morral N, Numes V, Norio R, Savilahti E, Chapelle Adl. Cystic fibrosis in a low-incidence population: two major mutations in Finland Human Genetics. 93: 162-166. PMID 7509311 DOI: 10.1007/Bf00210603 |
0.377 |
|
| 1994 |
Soria JM, Brito D, Barceló J, Fontcuberta J, Botero L, Maldonado J, Estivill X, Sala N. Severe homozygous protein C deficiency: identification of a splice site missense mutation (184, Q-->H) in exon 7 of the protein C gene. Thrombosis and Haemostasis. 72: 65-69. DOI: 10.1055/S-0038-1648812 |
0.374 |
|
| 1994 |
Estivill X, Morral N, Bertranpetit J. Reply to — Age of the ΔF508 cystic fibrosis mutation Nature Genetics. 8: 216-218. DOI: 10.1038/Ng1194-216B |
0.303 |
|
| 1993 |
Fuentes J, Banchs I, Volpini V, Estivill X. Genetic variation of microsatellite markers D1S117, D6S89, D11S35, APOC2, and D21S168 in the Spanish population. International Journal of Legal Medicine. 105: 271-277. PMID 8471544 DOI: 10.1007/Bf01370384 |
0.333 |
|
| 1993 |
Casals T, Nunes V, Palacio A, Giménez J, Gaona A, Ibáñez N, Morral N, Estivill X. Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean coastal area. Human Genetics. 91: 66-70. PMID 8454290 DOI: 10.1007/Bf00230225 |
0.349 |
|
| 1993 |
Ramsay M, Williamson R, Estivill X, Wainwright BJ, Ho MF, Halford S, Kere J, Savilahti E, Chapelle Adl, Schwartz M. Haplotype analysis to determine the position of a mutation among closely linked DNA markers Human Molecular Genetics. 2: 1007-1014. PMID 8364537 DOI: 10.1093/Hmg/2.7.1007 |
0.392 |
|
| 1993 |
Lázaro C, Gaona A, Ravella A, Volpini V, Casals T, Fuentes JJ, Estivill X. Novel alleles, hemizygosity and deletions at an Alu-repeat within the neurofibromatosis type 1 (NF1) gene. Human Molecular Genetics. 2: 725-30. PMID 8353492 DOI: 10.1093/Hmg/2.6.725 |
0.382 |
|
| 1993 |
Soria JM, Fontcuberta J, Chillón M, Borrell M, Estivill X, Sala N. Acceptor splice site mutation in the invariant AG of intron 5 of the protein C gene, causing type I protein C deficiency Human Genetics. 92: 506-508. PMID 8244342 DOI: 10.1007/Bf00216459 |
0.364 |
|
| 1993 |
Lázaro C, Gaona A, Xu G, Weiss R, Estivill X. A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene Human Genetics. 92: 429-430. PMID 8225327 DOI: 10.1007/Bf01247353 |
0.308 |
|
| 1993 |
Matilla T, Volpini V, Genís D, Rosell J, Corral J, Dávalos A, Molins A, Estivill X. Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias Human Molecular Genetics. 2: 2123-2128. PMID 8111382 DOI: 10.1093/Hmg/2.12.2123 |
0.419 |
|
| 1993 |
Chillón M, Casals T, Nunes V, Giménez J, Estivill X. Identification of a 31-bp insertion (3860ins31) in exon 20 of the cystic fibrosis (CFTR) gene. Human Molecular Genetics. 2: 1317-8. PMID 7691350 DOI: 10.1093/Hmg/2.8.1317 |
0.324 |
|
| 1993 |
Morral N, Nunes V, Casals T, Chillón M, Giménez J, Bertranpetit J, Estivill X. Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers. Human Molecular Genetics. 2: 1015-22. PMID 7689896 DOI: 10.1093/Hmg/2.7.1015 |
0.399 |
|
| 1993 |
Morral N, Nunes V, Casals T, Cobos N, Asensio O, Dapena J, Estivill X. Uniparental inheritance of microsatellite alleles of the cystic fibrosis gene (CFTR): Identification of a 50 kilobase deletion Human Molecular Genetics. 2: 677-681. PMID 7689007 DOI: 10.1093/Hmg/2.6.677 |
0.414 |
|
| 1993 |
Nunes V, Chillón M, Dörk T, Tümmler B, Casals T, Estivill X. A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype. Human Molecular Genetics. 2: 79-80. PMID 7683954 DOI: 10.1093/Hmg/2.1.79 |
0.356 |
|
| 1993 |
Nunes V, Casals T, Gaona A, Antiñolo G, Ferrer-Calvete J, Pérez-Frias J, Tardío E, Molano J, Estivill X. Cystic fibrosis patients with mutation 1949del84 in exon 13 of the CFTR gene have a similar clinical severity as delta F508 homozygotes. Human Mutation. 1: 375-9. PMID 1284539 DOI: 10.1002/Humu.1380010505 |
0.346 |
|
| 1993 |
Chillón M, Palacio A, Nunes V, Casals T, Giménez J, Estivill X. Identification of a frameshift mutation (1609delCA) in exon 10 of the CFTR gene in seven Spanish cystic fibrosis patients. Human Mutation. 1: 75-6. PMID 1284477 DOI: 10.1002/Humu.1380010113 |
0.377 |
|
| 1992 |
Casals T, Nunes V, Lázaro C, Giménez FJ, Girbau E, Volpini V, Estivill X. Mutation and linkage disequilibrium analysis in genetic counselling of Spanish cystic fibrosis families. Journal of Medical Genetics. 28: 771-6. PMID 1770534 DOI: 10.1136/Jmg.28.11.771 |
0.387 |
|
| 1992 |
Nunes V, Gaona A, Chillon M, Maña P, Casals T, Cutting G, Estivill X. Prenatal diagnosis of cystic fibrosis by simultaneous analysis of two different mutations. Prenatal Diagnosis. 11: 671-2. PMID 1766939 DOI: 10.1002/Pd.1970110827 |
0.328 |
|
| 1992 |
Chumakov I, Rigault P, Guillou S, Ougen P, Billaut A, Guasconi G, Gervy P, LeGall I, Soularue P, Grinas L, Bougueleret L, Bellanné-Chantelot C, Lacroix B, Barillot E, Gesnouin P, ... ... Estivill X, et al. Continuum of overlapping clones spanning the entire human chromosome 21q Nature. 359: 380-387. PMID 1406950 DOI: 10.1038/359380A0 |
0.311 |
|
| 1992 |
Osborne L, Santis G, Schwarz M, Klinger K, Dörk T, McIntosh I, Schwartz M, Nunes V, Macek M, Reiss J, Highsmith WE, McMahon R, Novelli G, Malik N, Bürger J, ... ... Estivill X, et al. Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene Human Genetics. 89: 653-658. PMID 1380943 DOI: 10.1007/Bf00221957 |
0.396 |
|
| 1992 |
Morral N, Estivill X. Multiplex PCR amplification of three microsatellites within the CFTR gene. Genomics. 13: 1362-1364. PMID 1380486 DOI: 10.1016/0888-7543(92)90071-Y |
0.348 |
|
| 1992 |
Soria JM, Fontcuberta J, Borrell M, Estivill X, Sala N. Protein C deficiency: identification of a novel two-base pair insertion and two point mutations in exon 7 of the protein C gene in Spanish families. Human Mutation. 1: 428-431. PMID 1301954 DOI: 10.1002/Humu.1380010514 |
0.365 |
|
| 1992 |
Chillón M, Palacio A, Nunes V, Estivill X. A rare DNA variant in exon 15 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene Human Genetics. 90: 474-474. PMID 1282900 DOI: 10.1007/Bf00220483 |
0.336 |
|
| 1992 |
Lázaro C, Estivill X. Mutation analysis of genetic diseases by asymmetric-PCR SSCP and ethidium bromide staining: application to neurofibromatosis and cystic fibrosis Molecular and Cellular Probes. 6: 357-359. PMID 1282203 DOI: 10.1016/0890-8508(92)90027-U |
0.341 |
|
| 1991 |
Estivill X, Lázaro C, Casals T, Ravella A. Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1. Human Genetics. 88: 185-188. PMID 1757093 DOI: 10.1007/Bf00206069 |
0.386 |
|
| 1991 |
Chillón M, Nunes V, Estivill X. SSCP-polymorphism in intron 12 of the CFTR gene recognized by BcII. Nucleic Acids Research. 19: 6343. PMID 1720243 DOI: 10.1093/Nar/19.22.6343 |
0.338 |
|
| 1991 |
Estivill X, Casals T, Nunes V. Genetic analysis of cystic fibrosis. Advances in Experimental Medicine and Biology. 290: 31-8. PMID 1719767 DOI: 10.1007/978-1-4684-5934-0_4 |
0.309 |
|
| 1991 |
Gasparini P, Nunes V, Dognini M, Estivill X. High conservation of sequences involved in cystic fibrosis mutations in five mammalian species. Genomics. 10: 1070-2. PMID 1717363 DOI: 10.1016/0888-7543(91)90200-X |
0.344 |
|
| 1991 |
Morral N, Nunes V, Casals T, Estivill X. CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover. Genomics. 10: 692-8. PMID 1716244 DOI: 10.1016/0888-7543(91)90454-M |
0.405 |
|
| 1991 |
Bosch A, Kruyer H, Nunes V, Estivill X. MspI restriction fragment length polymorphism near exon 10 of cystic fibrosis (CFTR) gene. Nucleic Acids Research. 19: 1719. PMID 1709281 DOI: 10.1093/Nar/19.7.1719-A |
0.334 |
|
| 1991 |
Gasparini P, Dognini M, Bonizzato A, Pignatti P, Morral N, Estivill X. A tetranucleotide repeat polymorphism in the cystic fibrosis gene Human Genetics. 86: 625-625. PMID 1709137 DOI: 10.1007/Bf00201556 |
0.333 |
|
| 1991 |
Estivill X, Morral N, Casals T, Nunes V. Prenatal diagnosis of cystic fibrosis by multiplex PCR of mutation and microsatellite alleles. Lancet (London, England). 338: 458. PMID 1678127 DOI: 10.1016/0140-6736(91)91092-9 |
0.347 |
|
| 1990 |
Ferrari M, Antonelli M, Bellini F, Borgo G, Castiglione O, Curcio L, Dallapiccola B, Devoto M, Estivill X, Gasparini P, Giunta A, Marianelli L, Mastella G, Novelli G, Pignatti P, et al. Genetic differences in cystic fibrosis patients with and without pancreatic insufficiency. An Italian collaborative study. Human Genetics. 84: 435-438. PMID 2323776 DOI: 10.1007/Bf00195815 |
0.329 |
|
| 1990 |
Kere J, Savilahti E, Norio R, Estivill X, Chapelle Adl. Cystic-Fibrosis Mutation Delta-F508 In Finland - Other Mutations Predominate Human Genetics. 85: 413-415. PMID 2210753 DOI: 10.1007/Bf02428286 |
0.364 |
|
| 1990 |
Chillón M, Nunes V, Casals T, Giménez FJ, Fernández E, Benítez J, Estivill X. Distribution of the ΔF508 mutation in 194 Spanish cystic fibrosis families Human Genetics. 85: 396-397. PMID 2210743 DOI: 10.1007/Bf02428272 |
0.366 |
|
| 1990 |
Nunes V, Chillón M, Lench N, Ramsay M, Estivill X. PCR detection of the pKM.19/ScrfI RFLP (D7S23), a marker closely linked to the cystic fibrosis mutation. Nucleic Acids Research. 18: 4957. PMID 1975668 DOI: 10.1093/Nar/18.16.4957 |
0.338 |
|
| 1990 |
Gasparini P, Novelli G, Estivill X, Olivieri D, Savoia A, Ruzzo A, Nunes V, Borgo G, Antonelli M, Williamson R. The genotype of a new linked DNA marker, MP6d-9, is related to the clinical course of cystic fibrosis. Journal of Medical Genetics. 27: 17-20. PMID 1968514 DOI: 10.1136/Jmg.27.1.17 |
0.314 |
|
| 1990 |
Ramsay M, Wainwright BJ, Farrall M, Estivill X, Sutherland H, Ho MF, Davies R, Halford S, Tata F, Wicking C. A new polymorphic locus, D7S411, isolated by cloning from preparative pulse-field gels is close to the mutation causing cystic fibrosis. Genomics. 6: 39-47. PMID 1968045 DOI: 10.1016/0888-7543(90)90446-2 |
0.352 |
|
| 1989 |
Estivill X, Gasparini P, Novelli G, Casals T, Nunes V, Gallano P, Savoia A, Ruzzo A, Dallapiccola B, Pignatti PF. Linkage disequilibrium for DNA haplotypes near the cystic fibrosis locus in two south European populations. Human Genetics. 83: 175-8. PMID 2777258 DOI: 10.1007/Bf00286713 |
0.325 |
|
| 1989 |
Estivill X, Casals T, Morral N, Chillon M, Bosch A, Nunes V, Gasparini P, Seia A, Pignatti PF, Novelli G, Dallapiccola B, Fernandez E, Benitez J, Williamson R. Δf508 Gene Deletion In Cystic Fibrosis In Southern Europe The Lancet. 334: 1404-1404. PMID 2574355 DOI: 10.1016/S0140-6736(89)92024-2 |
0.331 |
|
| 1989 |
Nunes V, Casals T, Gallano P, Giménez FJ, Kere J, Williamson R, Estivill X. Detection of a rare allele with the pMP6d-9/MspI RFLP near the cystic fibrosis locus. Human Genetics. 83: 305-6. PMID 2571567 DOI: 10.1007/Bf00285181 |
0.351 |
|
| 1989 |
Kere J, Norio R, Savilahti E, Estivill X, Chapelle Adl. Cystic fibrosis in Finland: a molecular and genealogical study. Human Genetics. 83: 20-25. PMID 2570015 DOI: 10.1007/Bf00274141 |
0.359 |
|
| 1989 |
Huth A, Estivill X, Grade K, Billwitz H, Speer A, Rosenthal A, Williamson R, Ramsay M, Coutelle C. Polymerase chain reaction for detection of the pMP6d-9/MspI RFLP, a marker closely linked to the cystic fibrosis mutation Nucleic Acids Research. 17: 7118-7118. PMID 2476727 DOI: 10.1093/Nar/17.17.7118 |
0.306 |
|
| 1988 |
Stanier P, Estivill X, Lench N, Williamson R. Detection of a rare-cutter RFLP in a CpG-rich island near the cystic fibrosis locus. Human Genetics. 80: 309-310. PMID 2461342 DOI: 10.1007/Bf01790107 |
0.32 |
|
| 1987 |
Scambler PJ, Estivill X, Bell G, Farrall M, McLean C, Newman R, Little PFR, Frederick P, Hawley K, Wainwright BJ, Williamson R, Lench NJ. Physical and genetic analysis of cosmids from the vicinity of the cystic fibrosis locus Nucleic Acids Research. 15: 3639-3652. PMID 3473444 DOI: 10.1093/Nar/15.9.3639 |
0.319 |
|
| 1987 |
Estivill X, Scambler PJ, Wainwright BJ, Hawley K, Frederick P, Schwartz M, Baiget M, Kere J, Williamson R, Farrall M. Patterns of polymorphism and linkage disequilibrium for cystic fibrosis. Genomics. 1: 257-263. PMID 2895728 DOI: 10.1016/0888-7543(87)90052-8 |
0.376 |
|
| 1987 |
Estivill X, Farrall M, Scambler PJ, Bell GM, Hawley KM, Lench NJ, Bates GP, Kruyer HC, Frederick PA, Stanier P. A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands. Nature. 326: 840-5. PMID 2883581 DOI: 10.1038/326840A0 |
0.336 |
|
| 1986 |
Estivill X, Schmidtke J, Williamson R, Wainwright B. Chromosome assignment and restriction fragment length polymorphism analysis of the anonymous DNA probe B79a at 7q22 (HMG8 assignment D7S13). Human Genetics. 74: 320-322. PMID 2877942 DOI: 10.1007/Bf00282558 |
0.301 |
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