Daniel Grinberg - Publications

Affiliations: 
Universitat de Barcelona, Barcelona, Cataluña, Spain 
Area:
Human molecular genetics

146 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2021 Benetó N, Grinberg D, Vilageliu L, Canals I. Genome Editing Using Cas9-gRNA Ribonucleoprotein in Human Pluripotent Stem Cells for Disease Modeling. Methods in Molecular Biology (Clifton, N.J.). PMID 33755903 DOI: 10.1007/7651_2021_374  1
2021 Castilla-Vallmanya L, Gürsoy S, Giray-Bozkaya Ö, Prat-Planas A, Bullich G, Matalonga L, Centeno-Pla M, Rabionet R, Grinberg D, Balcells S, Urreizti R. and Mutations in a Highly Consanguineous Family. International Journal of Molecular Sciences. 22. PMID 33557041 DOI: 10.3390/ijms22041549  0.84
2021 Martínez-Gil N, Roca-Ayats N, Cozar M, Garcia-Giralt N, Ovejero D, Nogués X, Grinberg D, Balcells S. Genetics and Genomics of : Functional Analysis of Variants and Genomic Regulation in Osteoblasts. International Journal of Molecular Sciences. 22. PMID 33419004 DOI: 10.3390/ijms22020489  0.96
2020 Martínez-Gil N, Roca-Ayats N, Atalay N, Pineda-Moncusí M, Garcia-Giralt N, Van Hul W, Boudin E, Ovejero D, Mellibovsky L, Nogués X, Díez-Pérez A, Grinberg D, Balcells S. Functional Assessment of Coding and Regulatory Variants From the Locus. Jbmr Plus. 4: e10423. PMID 33354644 DOI: 10.1002/jbm4.10423  0.84
2020 Benetó N, Vilageliu L, Grinberg D, Canals I. Sanfilippo Syndrome: Molecular Basis, Disease Models and Therapeutic Approaches. International Journal of Molecular Sciences. 21. PMID 33105639 DOI: 10.3390/ijms21217819  1
2020 Dimitriou E, Moraitou M, Cozar M, Serra-Vinardell J, Vilageliu L, Grinberg D, Mavridou I, Michelakakis H. Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece. Molecular Genetics and Metabolism Reports. 24: 100614. PMID 32547927 DOI: 10.1016/j.ymgmr.2020.100614  1
2020 Castilla-Vallmanya L, Selmer KK, Dimartino C, Rabionet R, Blanco-Sánchez B, Yang S, Reijnders MRF, van Essen AJ, Oufadem M, Vigeland MD, Stadheim B, Houge G, Cox H, Kingston H, Clayton-Smith J, ... ... Grinberg D, et al. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32376980 DOI: 10.1038/s41436-020-0792-7  0.84
2020 Benetó N, Cozar M, Castilla-Vallmanya L, Zetterdahl OG, Sacultanu M, Segur-Bailach E, García-Morant M, Ribes A, Ahlenius H, Grinberg D, Vilageliu L, Canals I. Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development. Journal of Clinical Medicine. 9. PMID 32121121 DOI: 10.3390/jcm9030644  1
2020 Urreizti R, Lopez-Martin E, Martinez-Monseny A, Pujadas M, Castilla-Vallmanya L, Pérez-Jurado LA, Serrano M, Natera-de Benito D, Martínez-Delgado B, Posada-de-la-Paz M, Alonso J, Marin-Reina P, O'Callaghan M, Grinberg D, Bermejo-Sánchez E, et al. Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum. Orphanet Journal of Rare Diseases. 15: 44. PMID 32041641 DOI: 10.1186/s13023-020-1317-9  0.84
2019 Benetó N, Cozar M, Gort L, Pacheco L, Vilageliu L, Grinberg D, Canals I. Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome. Stem Cell Research. 42: 101668. PMID 31825816 DOI: 10.1016/j.scr.2019.101668  1
2019 Benetó N, Cozar M, García-Morant M, Creus-Bachiller E, Vilageliu L, Grinberg D, Canals I. Generation of two compound heterozygous HGSNAT-mutated lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo C syndrome. Stem Cell Research. 41: 101616. PMID 31731183 DOI: 10.1016/j.scr.2019.101616  1
2019 Leon E, Diaz J, Castilla-Vallmanya L, Grinberg D, Balcells S, Urreizti R. Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studies. American Journal of Medical Genetics. Part A. PMID 31692235 DOI: 10.1002/ajmg.a.61397  0.84
2019 Castellanos E, Rosas I, Negro A, Gel B, Alibés A, Baena N, Pineda M, Pi G, Pintos G, Salvador H, Lazaro C, Blanco I, Vilageliu L, Brems H, Grinberg D, et al. Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules. Clinical Genetics. PMID 31573083 DOI: 10.1111/cge.13649  1
2019 Urreizti R, Mayer K, Evrony GD, Said E, Castilla-Vallmanya L, Cody NAL, Plasencia G, Gelb BD, Grinberg D, Brinkmann U, Webb BD, Balcells S. Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients. European Journal of Human Genetics : Ejhg. PMID 31477843 DOI: 10.1038/s41431-019-0394-5  0.84
2019 Serra-Vinardell J, Roca-Ayats N, De-Ugarte L, Vilageliu L, Balcells S, Grinberg D. Bone development and remodeling in metabolic disorders. Journal of Inherited Metabolic Disease. PMID 30942483 DOI: 10.1002/jimd.12097  1
2019 Roca-Ayats N, Martínez-Gil N, Cozar M, Gerousi M, Garcia-Giralt N, Ovejero D, Mellibovsky L, Nogués X, Díez-Pérez A, Grinberg D, Balcells S. Functional characterization of the C7ORF76 genomic region, a prominent GWAS signal for osteoporosis in 7q21.3. Bone. 123: 39-47. PMID 30878523 DOI: 10.1016/j.bone.2019.03.014  0.96
2019 Urreizti R, Mayer K, Evrony GD, Said E, Castilla-Vallmanya L, Cody NAL, Plasencia G, Gelb BD, Grinberg D, Brinkmann U, Webb BD, Balcells S. DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients. European Journal of Human Genetics : Ejhg. PMID 30877278 DOI: 10.1038/s41431-019-0374-9  0.84
2019 Mason S, Castilla-Vallmanya L, James C, Andrews PI, Balcells S, Grinberg D, Kirk EP, Urreizti R. Case report of a child bearing a novel deleterious splicing variant in PIGT. Medicine. 98: e14524. PMID 30813157 DOI: 10.1097/MD.0000000000014524  0.84
2018 De-Ugarte L, Balcells S, Nogues X, Grinberg D, Diez-Perez A, Garcia-Giralt N. Pro-osteoporotic miR-320a impairs osteoblast function and induces oxidative stress. Plos One. 13: e0208131. PMID 30485349 DOI: 10.1371/journal.pone.0208131  0.84
2018 Roca-Ayats N, Ng PY, Garcia-Giralt N, Falcó-Mascaró M, Cozar M, Abril JF, Quesada Gómez JM, Prieto-Alhambra D, Nogués X, Dunford JE, Russell RG, Baron R, Grinberg D, Balcells S, Díez-Pérez A. Functional characterization of a GGPPS variant identified in atypical femoral fracture patients and delineation of the role of GGPPS in bone-relevant cell types. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. PMID 30184270 DOI: 10.1002/jbmr.3580  0.96
2018 Urreizti R, Gürsoy S, Castilla-Vallmanya L, Cunill G, Rabionet R, Erçal D, Grinberg D, Balcells S. The mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome. Clinical Case Reports. 6: 1452-1456. PMID 30147881 DOI: 10.1002/ccr3.1603  0.84
2018 Martínez-Gil N, Roca-Ayats N, Monistrol-Mula A, García-Giralt N, Díez-Pérez A, Nogués X, Mellibovsky L, Grinberg D, Balcells S. Common and rare variants of WNT16, DKK1 and SOST and their relationship with bone mineral density. Scientific Reports. 8: 10951. PMID 30026596 DOI: 10.1038/s41598-018-29242-8  0.84
2018 Urreizti R, Damanti S, Esteve C, Franco-Valls H, Castilla-Vallmanya L, Tonda R, Cormand B, Vilageliu L, Opitz JM, Neri G, Grinberg D, Balcells S. A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome. Scientific Reports. 8: 694. PMID 29330474 DOI: 10.1038/s41598-017-19109-9  1
2018 De-Ugarte L, Serra-Vinardell J, Nonell L, Balcells S, Arnal M, Nogues X, Mellibovsky L, Grinberg D, Diez-Perez A, Garcia-Giralt N. Expression profiling of microRNAs in human bone tissue from postmenopausal women. Human Cell. 31: 33-41. PMID 28933035 DOI: 10.1007/s13577-017-0181-y  0.84
2018 Grinberg D. Tracing Toxic Legacies: GIS and the Dispersed Violence of Agent Orange Journal of War & Culture Studies. 11: 38-57. DOI: 10.1080/17526272.2017.1416762  0.56
2017 Stauffert F, Serra-Vinardell J, Gómez-Grau M, Michelakakis H, Mavridou I, Grinberg D, Vilageliu L, Casas J, Bodlenner A, Delgado A, Compain P. Correction: Stereodivergent synthesis of right- and left-handed iminoxylitol heterodimers and monomers. Study of their impact on β-glucocerebrosidase activity. Organic & Biomolecular Chemistry. PMID 28905961 DOI: 10.1039/c7ob90148h  1
2017 Herrera S, Soriano R, Nogués X, Güerri-Fernandez R, Grinberg D, García-Giralt N, Martínez-Gil N, Castejón S, González-Lizarán A, Balcells S, Diez-Perez A. Discrepancy between bone density and bone material strength index in three siblings with Camurati-Engelmann disease. Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation For Osteoporosis and the National Osteoporosis Foundation of the Usa. PMID 28842728 DOI: 10.1007/s00198-017-4198-6  0.84
2017 De-Ugarte L, Yoskovitz G, Balcells S, Güerri-Fernández R, Martinez-Diaz S, Mellibovsky L, Urreizti R, Nogués X, Grinberg D, García-Giralt N, Díez-Pérez A. Erratum to: MiRNA profiling of whole trabecular bone: identification of osteoporosis-related changes in MiRNAs in human hip bones. Bmc Medical Genomics. 10: 36. PMID 28535813 DOI: 10.1186/s12920-017-0272-3  0.84
2017 Roca-Ayats N, Balcells S, Garcia-Giralt N, Falcó-Mascaró M, Martínez-Gil N, Abril JF, Urreizti R, Dopazo J, Quesada-Gómez JM, Nogués X, Mellibovsky L, Prieto-Alhambra D, Dunford JE, Javaid MK, Russell RG, ... Grinberg D, et al. GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates. The New England Journal of Medicine. 376: 1794-1795. PMID 28467865 DOI: 10.1056/NEJMc1612804  0.84
2017 Stauffert F, Serra-Vinardell J, Gómez-Grau M, Michelakakis H, Mavridou I, Grinberg D, Vilageliu L, Casas J, Bodlenner A, Delgado A, Compain P. Stereodivergent synthesis of right- and left-handed iminoxylitol heterodimers and monomers. Study of their impact on β-glucocerebrosidase activity. Organic & Biomolecular Chemistry. PMID 28401966 DOI: 10.1039/c7ob00443e  1
2017 Urreizti R, Cueto-Gonzalez AM, Franco-Valls H, Mort-Farre S, Roca-Ayats N, Ponomarenko J, Cozzuto L, Company C, Bosio M, Ossowski S, Montfort M, Hecht J, Tizzano EF, Cormand B, Vilageliu L, ... ... Grinberg D, et al. A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes. Scientific Reports. 7: 44138. PMID 28281571 DOI: 10.1038/srep44138  1
2017 Gómez-Grau M, Albaigès J, Casas J, Auladell C, Dierssen M, Vilageliu L, Grinberg D. New murine Niemann-Pick type C models bearing a pseudoexon-generating mutation recapitulate the main neurobehavioural and molecular features of the disease. Scientific Reports. 7: 41931. PMID 28167839 DOI: 10.1038/srep41931  1
2017 Mavridou I, Dimitriou E, Vanier MT, Vilageliu L, Grinberg D, Latour P, Xaidara A, Lycopoulou L, Bostantjopoulou S, Zafeiriou D, Michelakakis H. The Spectrum of Niemann-Pick Type C Disease in Greece. Jimd Reports. 36: 41-48. PMID 28105569 DOI: 10.1007/8904_2016_41  1
2017 Vilageliu L, Grinberg D. Involvement of Gaucher Disease Mutations in Parkinson Disease. Current Protein & Peptide Science. 18: 758-764. PMID 26965692 DOI: 10.2174/1389203717666160311115956  1
2017 Grinberg D. Chilling Developments: Digital Access, Surveillance, and the Authoritarian Dilemma in Ethiopia Surveillance & Society. 15: 432-438. DOI: 10.24908/SS.V15I3/4.6623  0.36
2016 Urreizti R, Roca-Ayats N, Trepat J, Garcia-Garcia F, Aleman A, Orteschi D, Marangi G, Neri G, Opitz JM, Dopazo J, Cormand B, Vilageliu L, Balcells S, Grinberg D. Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes. American Journal of Medical Genetics. Part A. 170: 24-31. PMID 26768331 DOI: 10.1002/ajmg.a.37418  0.92
2016 Dimitriou E, Cozar M, Mavridou I, Grinberg D, Vilageliu L, Michelakakis H. The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings. Jimd Reports. 25: 57-64. PMID 26108647 DOI: 10.1007/8904_2015_457  1
2015 De-Ugarte L, Yoskovitz G, Balcells S, Güerri-Fernández R, Martinez-Diaz S, Mellibovsky L, Urreizti R, Nogués X, Grinberg D, García-Giralt N, Díez-Pérez A. MiRNA profiling of whole trabecular bone: identification of osteoporosis-related changes in MiRNAs in human hip bones. Bmc Medical Genomics. 8: 75. PMID 26555194 DOI: 10.1186/s12920-015-0149-2  0.84
2015 Canals I, Soriano J, Orlandi JG, Torrent R, Richaud-Patin Y, Jiménez-Delgado S, Merlin S, Follenzi A, Consiglio A, Vilageliu L, Grinberg D, Raya A. Activity and High-Order Effective Connectivity Alterations in Sanfilippo C Patient-Specific Neuronal Networks. Stem Cell Reports. 5: 546-57. PMID 26411903 DOI: 10.1016/j.stemcr.2015.08.016  0.92
2015 Canals I, Benetó N, Cozar M, Vilageliu L, Grinberg D. EXTL2 and EXTL3 inhibition with siRNAs as a promising substrate reduction therapy for Sanfilippo C syndrome. Scientific Reports. 5: 13654. PMID 26347037 DOI: 10.1038/srep13654  1
2015 Gómez-Grau M, Garrido E, Cozar M, Rodriguez-Sureda V, Domínguez C, Arenas C, Gatti RA, Cormand B, Grinberg D, Vilageliu L. Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases. Plos One. 10: e0135873. PMID 26287674 DOI: 10.1371/journal.pone.0135873  0.92
2015 Cammarata-Scalisi F, Cozar M, Grinberg D, Balcells S, Asteggiano CG, Martínez-Domenech G, Bracho A, Sánchez Y, Stock F, Delgado-Luengo W, Zara-Chirinos C, Chacín JA. [Double mutant alleles in the EXT1 gene not previously reported in a teenager with hereditary multiple exostoses]. Archivos Argentinos De PediatríA. 113: e109-12. PMID 25727835 DOI: 10.1590/S0325-00752015000200021  0.96
2015 Carcavilla A, García-Miñaúr S, Pérez-Aytés A, Vendrell T, Pinto I, Guillén-Navarro E, González-Meneses A, Aoki Y, Grinberg D, Ezquieta B. [Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients]. Medicina ClíNica. 144: 67-72. PMID 25194980 DOI: 10.1016/j.medcli.2014.06.009  0.92
2014 Matos L, Canals I, Dridi L, Choi Y, Prata MJ, Jordan P, Desviat LR, Pérez B, Pshezhetsky AV, Grinberg D, Alves S, Vilageliu L. Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations. Orphanet Journal of Rare Diseases. 9: 180. PMID 25491247 DOI: 10.1186/s13023-014-0180-y  0.92
2014 Delgado MA, Martinez-Domenech G, Sarrión P, Urreizti R, Zecchini L, Robledo HH, Segura F, de Kremer RD, Balcells S, Grinberg D, Asteggiano CG. A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG. Scientific Reports. 4: 6407. PMID 25230886 DOI: 10.1038/srep06407  0.84
2014 Serra-Vinardell J, Díaz L, Guitiérrez-de Terán H, Sánchez-Ollé G, Bujons J, Michelakakis H, Mavridou I, Aerts JM, Delgado A, Grinberg D, Vilageliu L, Casas J. Selective chaperone effect of aminocyclitol derivatives on G202R and other mutant glucocerebrosidases causing Gaucher disease. The International Journal of Biochemistry & Cell Biology. 54: 245-54. PMID 25084554 DOI: 10.1016/j.biocel.2014.07.017  0.92
2014 Serra-Vinardell J, Díaz L, Casas J, Grinberg D, Vilageliu L, Michelakakis H, Mavridou I, Aerts JM, Decroocq C, Compain P, Delgado A. Glucocerebrosidase enhancers for selected Gaucher disease genotypes by modification of α-1-C-substituted imino-D-xylitols (DIXs) by click chemistry. Chemmedchem. 9: 1744-54. PMID 24976039 DOI: 10.1002/cmdc.201402023  0.92
2014 Reverter M, Rentero C, Garcia-Melero A, Hoque M, Vilà de Muga S, Alvarez-Guaita A, Conway JR, Wood P, Cairns R, Lykopoulou L, Grinberg D, Vilageliu L, Bosch M, Heeren J, Blasi J, et al. Cholesterol regulates Syntaxin 6 trafficking at trans-Golgi network endosomal boundaries. Cell Reports. 7: 883-97. PMID 24746815 DOI: 10.1016/j.celrep.2014.03.043  1
2014 Sarrión P, Mellibovsky L, Urreizti R, Civit S, Cols N, García-Giralt N, Yoskovitz G, Aranguren A, Malouf J, Di Gregorio S, Río LD, Güerri R, Nogués X, Díez-Pérez A, Grinberg D, et al. Genetic analysis of high bone mass cases from the BARCOS cohort of Spanish postmenopausal women. Plos One. 9: e94607. PMID 24736728 DOI: 10.1371/journal.pone.0094607  0.84
2014 Pérez B, Vilageliu L, Grinberg D, Desviat LR. Antisense mediated splicing modulation for inherited metabolic diseases: challenges for delivery. Nucleic Acid Therapeutics. 24: 48-56. PMID 24506780 DOI: 10.1089/nat.2013.0453  1
2014 Soriano JB, Fernández Vázquez S, Carretero S, Puga González MD, Soriano C, Romaguera D, Alonso-Fernández A, Busquets X, Balcells S, Grinberg D, Poulain M. Description of extreme longevity in the Balearic Islands: Exploring a potential Blue Zone in Menorca, Spain. Geriatrics & Gerontology International. 14: 620-7. PMID 24112374 DOI: 10.1111/ggi.12148  0.92
2014 Mavridou I, Cozar M, Douzgou S, Xaidara A, Lianou D, Vanier MT, Dimitriou E, Grinberg D, Vilageliu L, Michelakakis H. Niemann-Pick type C disease: a novel NPC1 mutation segregating in a Greek island. Clinical Genetics. 85: 543-7. PMID 23701245 DOI: 10.1111/cge.12200  1
2013 Carreño O, Corominas R, Serra SA, Sintas C, Fernández-Castillo N, Vila-Pueyo M, Toma C, Gené GG, Pons R, Llaneza M, Sobrido MJ, Grinberg D, Valverde MÁ, Fernández-Fernández JM, Macaya A, et al. Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies. Molecular Genetics & Genomic Medicine. 1: 206-22. PMID 24498617 DOI: 10.1002/mgg3.24  0.92
2013 Garcia-Giralt N, Rodríguez-Sanz M, Prieto-Alhambra D, Servitja S, Torres-Del Pliego E, Balcells S, Albanell J, Grinberg D, Diez-Perez A, Tusquets I, Nogués X. Genetic determinants of aromatase inhibitor-related arthralgia: the B-ABLE cohort study. Breast Cancer Research and Treatment. 140: 385-95. PMID 23868189 DOI: 10.1007/s10549-013-2638-3  0.84
2013 Yoskovitz G, Garcia-Giralt N, Rodriguez-Sanz M, Urreizti R, Guerri R, Ariño-Ballester S, Prieto-Alhambra D, Mellibovsky L, Grinberg D, Nogues X, Balcells S, Diez-Perez A. Analyses of RANK and RANKL in the post-GWAS context: functional evidence of vitamin D stimulation through a RANKL distal region. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. 28: 2550-60. PMID 23744843 DOI: 10.1002/jbmr.2001  0.84
2013 Brands MM, Hoogeveen-Westerveld M, Kroos MA, Nobel W, Ruijter GJ, Özkan L, Plug I, Grinberg D, Vilageliu L, Halley DJ, van der Ploeg AT, Reuser AJ. Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase. Orphanet Journal of Rare Diseases. 8: 51. PMID 23557332 DOI: 10.1186/1750-1172-8-51  1
2012 Rodríguez-Pascau L, Coll MJ, Casas J, Vilageliu L, Grinberg D. Generation of a human neuronal stable cell model for niemann-pick C disease by RNA interference. Jimd Reports. 4: 29-37. PMID 23430894 DOI: 10.1007/8904_2011_64  1
2012 Rodríguez-Pascau L, Toma C, Macías-Vidal J, Cozar M, Cormand B, Lykopoulou L, Coll MJ, Grinberg D, Vilageliu L. Characterisation of two deletions involving NPC1 and flanking genes in Niemann-Pick type C disease patients. Molecular Genetics and Metabolism. 107: 716-20. PMID 23142039 DOI: 10.1016/j.ymgme.2012.10.004  0.92
2012 Delgado MA, Sarrión P, Azar N, Zecchini L, Robledo HH, Segura F, Balcells S, Grinberg D, Dodelson de Kremer R, Asteggiano CG. A novel nonsense mutation of the EXT1 gene in an Argentinian patient with multiple hereditary exostoses: a case report. The Journal of Bone and Joint Surgery. American Volume. 94: e76. PMID 22637216 DOI: 10.2106/JBJS.J.01920  0.84
2012 Giraldo P, Alfonso P, Irún P, Gort L, Chabás A, Vilageliu L, Grinberg D, Sá Miranda CM, Pocovi M. Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula. Orphanet Journal of Rare Diseases. 7: 17. PMID 22429443 DOI: 10.1186/1750-1172-7-17  0.92
2012 Urreizti R, Garcia-Giralt N, Riancho JA, González-Macías J, Civit S, Güerri R, Yoskovitz G, Sarrion P, Mellivobsky L, Díez-Pérez A, Nogués X, Balcells S, Grinberg D. COL1A1 haplotypes and hip fracture. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. 27: 950-3. PMID 22190259 DOI: 10.1002/jbmr.1536  0.84
2012 Setó-Salvia N, Pagonabarraga J, Houlden H, Pascual-Sedano B, Dols-Icardo O, Tucci A, Paisán-Ruiz C, Campolongo A, Antón-Aguirre S, Martín I, Muñoz L, Bufill E, Vilageliu L, Grinberg D, Cozar M, et al. Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course. Movement Disorders : Official Journal of the Movement Disorder Society. 27: 393-9. PMID 22173904 DOI: 10.1002/mds.24045  1
2011 Moraitou M, Hadjigeorgiou G, Monopolis I, Dardiotis E, Bozi M, Vassilatis D, Vilageliu L, Grinberg D, Xiromerisiou G, Stefanis L, Michelakakis H. β-Glucocerebrosidase gene mutations in two cohorts of Greek patients with sporadic Parkinson's disease. Molecular Genetics and Metabolism. 104: 149-52. PMID 21745757 DOI: 10.1016/j.ymgme.2011.06.015  1
2011 Agueda L, Velázquez-Cruz R, Urreizti R, Yoskovitz G, Sarrión P, Jurado S, Güerri R, Garcia-Giralt N, Nogués X, Mellibovsky L, Díez-Pérez A, Marie PJ, Balcells S, Grinberg D. Functional relevance of the BMD-associated polymorphism rs312009: novel involvement of RUNX2 in LRP5 transcriptional regulation. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. 26: 1133-44. PMID 21542013 DOI: 10.1002/jbmr.293  0.92
2011 Cozar M, Urreizti R, Vilarinho L, Grosso C, Dodelson de Kremer R, Asteggiano CG, Dalmau J, García AM, Vilaseca MA, Grinberg D, Balcells S. Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients. Human Mutation. 32: 835-42. PMID 21520339 DOI: 10.1002/humu.21514  0.96
2011 Cozar M, Bembi B, Dominissini S, Zampieri S, Vilageliu L, Grinberg D, Dardis A. Molecular characterization of a new deletion of the GBA1 gene due to an inter Alu recombination event. Molecular Genetics and Metabolism. 102: 226-8. PMID 21036086 DOI: 10.1016/j.ymgme.2010.10.004  1
2011 Canals I, Elalaoui SC, Pineda M, Delgadillo V, Szlago M, Jaouad IC, Sefiani A, Chabás A, Coll MJ, Grinberg D, Vilageliu L. Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles. Clinical Genetics. 80: 367-74. PMID 20825431 DOI: 10.1111/j.1399-0004.2010.01525.x  1
2011 Macías-Vidal J, Rodríguez-Pascau L, Sánchez-Ollé G, Lluch M, Vilageliu L, Grinberg D, Coll MJ. Molecular analysis of 30 Niemann-Pick type C patients from Spain. Clinical Genetics. 80: 39-49. PMID 20718790 DOI: 10.1111/j.1399-0004.2010.01504.x  1
2010 Pérez B, Rodríguez-Pascau L, Vilageliu L, Grinberg D, Ugarte M, Desviat LR. Present and future of antisense therapy for splicing modulation in inherited metabolic disease. Journal of Inherited Metabolic Disease. 33: 397-403. PMID 20577904 DOI: 10.1007/s10545-010-9135-1  0.92
2010 Agueda L, Urreizti R, Bustamante M, Jurado S, Garcia-Giralt N, Díez-Pérez A, Nogués X, Mellibovsky L, Grinberg D, Balcells S. Analysis of three functional polymorphisms in relation to osteoporosis phenotypes: replication in a Spanish cohort. Calcified Tissue International. 87: 14-24. PMID 20390408 DOI: 10.1007/s00223-010-9361-4  0.92
2010 Urreizti R, Moya-García AA, Pino-Ángeles A, Cozar M, Langkilde A, Fanhoe U, Esteves C, Arribas J, Vilaseca MA, Pérez-Dueñas B, Pineda M, González V, Artuch R, Baldellou A, Vilarinho L, ... ... Grinberg D, et al. Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency. Clinical Genetics. 78: 441-8. PMID 20236116 DOI: 10.1111/j.1399-0004.2010.01391.x  0.96
2010 Jurado S, Garcia-Giralt N, Díez-Pérez A, Esbrit P, Yoskovitz G, Agueda L, Urreizti R, Pérez-Edo L, Saló G, Mellibovsky L, Balcells S, Grinberg D, Nogués X. Effect of IL-1beta, PGE(2), and TGF-beta1 on the expression of OPG and RANKL in normal and osteoporotic primary human osteoblasts. Journal of Cellular Biochemistry. 110: 304-10. PMID 20225238 DOI: 10.1002/jcb.22538  0.92
2010 Michelakakis H, Dimitriou E, Moraitou M, Valari M, Yatrakou E, Mitsiadi V, Cozar M, Vilageliu L, Grinberg D, Karachristou K. Perinatal lethal form of Gaucher disease. Clinical and molecular characterization of a Greek case. Blood Cells, Molecules & Diseases. 44: 82-3. PMID 20005137 DOI: 10.1016/j.bcmd.2009.11.007  1
2010 Jurado S, Nogués X, Agueda L, Garcia-Giralt N, Urreizti R, Yoskovitz G, Pérez-Edo L, Saló G, Carreras R, Mellibovsky L, Balcells S, Grinberg D, Díez-Pérez A. Polymorphisms and haplotypes across the osteoprotegerin gene associated with bone mineral density and osteoporotic fractures. Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation For Osteoporosis and the National Osteoporosis Foundation of the Usa. 21: 287-96. PMID 19436932 DOI: 10.1007/s00198-009-0956-4  0.92
2009 Rodríguez-Pascau L, Coll MJ, Vilageliu L, Grinberg D. Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease. Human Mutation. 30: E993-E1001. PMID 19718781 DOI: 10.1002/humu.21119  1
2009 Rodríguez-Pascau L, Gort L, Schuchman EH, Vilageliu L, Grinberg D, Chabás A. Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients. Human Mutation. 30: 1117-22. PMID 19405096 DOI: 10.1002/humu.21018  0.92
2009 Sánchez-Ollé G, Duque J, Egido-Gabás M, Casas J, Lluch M, Chabás A, Grinberg D, Vilageliu L. Promising results of the chaperone effect caused by imino sugars and aminocyclitol derivatives on mutant glucocerebrosidases causing Gaucher disease. Blood Cells, Molecules & Diseases. 42: 159-66. PMID 19167250 DOI: 10.1016/j.bcmd.2008.11.002  1
2008 Santamaria R, Vilageliu L, Grinberg D. SR proteins and the nonsense-mediated decay mechanism are involved in human GLB1 gene alternative splicing. Bmc Research Notes. 1: 137. PMID 19114006 DOI: 10.1186/1756-0500-1-137  1
2008 Agueda L, Bustamante M, Jurado S, Garcia-Giralt N, Ciria M, Saló G, Carreras R, Nogués X, Mellibovsky L, Díez-Pérez A, Grinberg D, Balcells S. A haplotype-based analysis of the LRP5 gene in relation to osteoporosis phenotypes in Spanish postmenopausal women. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. 23: 1954-63. PMID 18684085 DOI: 10.1359/jbmr.080806  0.92
2008 Santamaria R, Michelakakis H, Moraitou M, Dimitriou E, Dominissini S, Grossi S, Sánchez-Ollé G, Chabás A, Pittis MG, Filocamo M, Vilageliu L, Grinberg D. Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele. Human Mutation. 29: E58-67. PMID 18429048 DOI: 10.1002/humu.20776  1
2008 Garrido E, Cormand B, Hopwood JJ, Chabás A, Grinberg D, Vilageliu L. Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene. Molecular Genetics and Metabolism. 94: 305-12. PMID 18406185 DOI: 10.1016/j.ymgme.2008.02.012  0.92
2008 Atrian S, López-Viñas E, Gómez-Puertas P, Chabás A, Vilageliu L, Grinberg D. An evolutionary and structure-based docking model for glucocerebrosidase-saposin C and glucocerebrosidase-substrate interactions - relevance for Gaucher disease. Proteins. 70: 882-91. PMID 17803231 DOI: 10.1002/prot.21554  1
2007 Urreizti R, Asteggiano C, Bermudez M, Córdoba A, Szlago M, Grosso C, de Kremer RD, Vilarinho L, D'Almeida V, Martínez-Pardo M, Peña-Quintana L, Dalmau J, Bernal J, Briceño I, Couce ML, ... ... Grinberg D, et al. Erratum to: The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America. Journal of Human Genetics. 52: 388-389. PMID 32033511 DOI: 10.1007/s10038-006-0103-4  0.84
2007 Bustamante M, Nogués X, Mellibovsky L, Agueda L, Jurado S, Cáceres E, Blanch J, Carreras R, Díez-Pérez A, Grinberg D, Balcells S. Polymorphisms in the interleukin-6 receptor gene are associated with bone mineral density and body mass index in Spanish postmenopausal women. European Journal of Endocrinology / European Federation of Endocrine Societies. 157: 677-84. PMID 17984249 DOI: 10.1530/EJE-07-0389  0.92
2007 Bustamante M, Nogués X, Agueda L, Jurado S, Wesselius A, Cáceres E, Carreras R, Ciria M, Mellibovsky L, Balcells S, Díez-Pérez A, Grinberg D. Promoter 2 -1025 T/C polymorphism in the RUNX2 gene is associated with femoral neck bmd in Spanish postmenopausal women. Calcified Tissue International. 81: 327-32. PMID 17878995 DOI: 10.1007/s00223-007-9069-2  0.92
2007 Santamaria R, Chabás A, Callahan JW, Grinberg D, Vilageliu L. Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients. Journal of Lipid Research. 48: 2275-82. PMID 17664528 DOI: 10.1194/jlr.M700308-JLR200  1
2007 Gort L, Santamaria R, Grinberg D, Vilageliu L, Chabás A. Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis. Clinical Genetics. 72: 109-11. PMID 17661814 DOI: 10.1111/j.1399-0004.2007.00843.x  1
2007 Garrido E, Chabás A, Coll MJ, Blanco M, Domínguez C, Grinberg D, Vilageliu L, Cormand B. Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations. Molecular Genetics and Metabolism. 92: 122-30. PMID 17643332 DOI: 10.1016/j.ymgme.2007.06.002  0.92
2007 Mellibovsky L, Bustamante M, Lluch P, Nogues X, Grinberg D, Balcells S, Diez-Perez A. Bone mass of a 113-year-old man. The Journals of Gerontology. Series a, Biological Sciences and Medical Sciences. 62: 794-5. PMID 17634329  0.84
2007 Urreizti R, Asteggiano C, Vilaseca MA, Corbella E, Pintó X, Grinberg D, Balcells S. A CBS haplotype and a polymorphism at the MSR gene are associated with cardiovascular disease in a Spanish case-control study. Clinical Biochemistry. 40: 864-8. PMID 17553479 DOI: 10.1016/j.clinbiochem.2007.04.008  0.84
2007 Santamaria R, Blanco M, Chabás A, Grinberg D, Vilageliu L. Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America. Clinical Genetics. 71: 273-9. PMID 17309651 DOI: 10.1111/j.1399-0004.2007.00767.x  0.4
2007 Ruiz-Gaspa S, Nogues X, Enjuanes A, Monllau JC, Blanch J, Carreras R, Mellibovsky L, Grinberg D, Balcells S, Díez-Perez A, Pedro-Botet J. Simvastatin and atorvastatin enhance gene expression of collagen type 1 and osteocalcin in primary human osteoblasts and MG-63 cultures. Journal of Cellular Biochemistry. 101: 1430-8. PMID 17252541 DOI: 10.1002/jcb.21259  0.84
2006 Diaz-Font A, Chabás A, Grinberg D, Vilageliu L. RNAi-mediated inhibition of the glucosylceramide synthase (GCS) gene: A preliminary study towards a therapeutic strategy for Gaucher disease and other glycosphingolipid storage diseases. Blood Cells, Molecules & Diseases. 37: 197-203. PMID 16959503 DOI: 10.1016/j.bcmd.2006.07.002  1
2006 Santamaria R, Chabás A, Coll MJ, Miranda CS, Vilageliu L, Grinberg D. Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies. Human Mutation. 27: 1060. PMID 16941474 DOI: 10.1002/humu.9451  1
2006 Uitterlinden AG, Ralston SH, Brandi ML, Carey AH, Grinberg D, Langdahl BL, Lips P, Lorenc R, Obermayer-Pietsch B, Reeve J, Reid DM, Amedei A, Amidei A, Bassiti A, Bustamante M, et al. The association between common vitamin D receptor gene variations and osteoporosis: a participant-level meta-analysis. Annals of Internal Medicine. 145: 255-64. PMID 16908916  0.92
2006 Michelakakis H, Moraitou M, Dimitriou E, Santamaria R, Sanchez G, Gort L, Chabas A, Grinberg D, Dassopoulou M, Fotopoulos S, Vilageliu L. Homozygosity for the double D409H+H255Q allele in type II Gaucher disease. Journal of Inherited Metabolic Disease. 29: 591. PMID 16830265 DOI: 10.1007/s10545-006-0316-x  1
2006 Stewart TL, Jin H, McGuigan FEA, Albagha OME, Garcia-Giralt N, Bassiti A, Grinberg D, Balcells S, Reid DM, Ralston SH. Haplotypes defined by promoter and intron 1 polymorphisms of the COLIA1 gene regulate bone mineral density in women Journal of Clinical Endocrinology and Metabolism. 91: 3575-3583. PMID 16804049 DOI: 10.1210/jc.2005-2651  0.92
2006 Urreizti R, Asteggiano C, Bermudez M, Córdoba A, Szlago M, Szlago M, Grosso C, de Kremer RD, Vilarinho L, D'Almeida V, Martínez-Pardo M, Peña-Quintana L, Dalmau J, Bernal J, Briceño I, ... ... Grinberg D, et al. The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America. Journal of Human Genetics. 51: 305-13. PMID 16479318 DOI: 10.1007/s10038-006-0362-0  0.84
2006 Bermúdez M, Frank N, Bernal J, Urreizti R, Briceño I, Merinero B, Perez-Cerdá C, Ugarte M, Grinberg D, Balcells S, Kraus JP. High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia. Human Mutation. 27: 296. PMID 16470595 DOI: 10.1002/humu.9416  0.84
2006 Urreizti R, Asteggiano C, Cozar M, Frank N, Vilaseca MA, Grinberg D, Balcells S. Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations. Human Mutation. 27: 211. PMID 16429402 DOI: 10.1002/humu.9395  0.96
2006 Enjuanes A, Garcia-Giralt N, Supervía A, Nogués X, Ruiz-Gaspà S, Bustamante M, Mellibovsky L, Grinberg D, Balcells S, Díez-Pérez A. A new SNP in a negative regulatory region of the CYP19A1 gene is associated with lumbar spine BMD in postmenopausal women. Bone. 38: 738-43. PMID 16344016 DOI: 10.1016/j.bone.2005.10.010  0.84
2006 Montfort M, Chabás A, Vilageliu L, Grinberg D. Analysis of nonsense-mediated mRNA decay in mutant alleles identified in Spanish Gaucher disease patients. Blood Cells, Molecules & Diseases. 36: 46-52. PMID 16326120 DOI: 10.1016/j.bcmd.2005.10.002  1
2005 Enjuanes A, Garcia-Giralt N, Supervía A, Nogués X, Ruiz-Gaspà S, Bustamante M, Mellibovsky L, Grinberg D, Balcells S, Díez-Pérez A. Functional analysis of the I.3, I.6, pII and I.4 promoters of CYP19 (aromatase) gene in human osteoblasts and their role in vitamin D and dexamethasone stimulation. European Journal of Endocrinology. 153: 981-8. PMID 16322405 DOI: 10.1530/eje.1.02032  0.84
2005 Díaz-Font A, Santamaría R, Cozar M, Blanco M, Chamoles N, Coll MJ, Chabás A, Vilageliu L, Grinberg D. Clinical and mutational characterization of three patients with multiple sulfatase deficiency: report of a new splicing mutation. Molecular Genetics and Metabolism. 86: 206-11. PMID 16125993 DOI: 10.1016/j.ymgme.2005.07.004  1
2005 Pintó X, Vilaseca MA, Balcells S, Artuch R, Corbella E, Meco JF, Vila R, Pujol R, Grinberg D. A folate-rich diet is as effective as folic acid from supplements in decreasing plasma homocysteine concentrations. International Journal of Medical Sciences. 2: 58-63. PMID 15968341  0.84
2005 Chabás A, Gort L, Díaz-Font A, Montfort M, Santamaría R, Cidrás M, Grinberg D, Vilageliu L. Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease. Blood Cells, Molecules & Diseases. 35: 253-8. PMID 15967693 DOI: 10.1016/j.bcmd.2005.04.007  1
2005 Also-Rallo E, Lopez-Quesada E, Urreizti R, Vilaseca MA, Lailla JM, Balcells S, Grinberg D. Polymorphisms of genes involved in homocysteine metabolism in preeclampsia and in uncomplicated pregnancies. European Journal of Obstetrics, Gynecology, and Reproductive Biology. 120: 45-52. PMID 15866085 DOI: 10.1016/j.ejogrb.2004.08.008  0.84
2005 Diaz-Font A, Cormand B, Santamaria R, Vilageliu L, Grinberg D, Chabás A. A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity. Human Genetics. 117: 275-7. PMID 15856305 DOI: 10.1007/s00439-005-1288-x  0.92
2005 García-Giralt N, Enjuanes A, Bustamante M, Mellibovsky L, Nogués X, Carreras R, Díez-Pérez A, Grinberg D, Balcells S. In vitro functional assay of alleles and haplotypes of two COL1A1-promoter SNPs. Bone. 36: 902-8. PMID 15814304 DOI: 10.1016/j.bone.2004.12.012  0.84
2005 Montfort M, Chabás A, Vilageliu L, Grinberg D. A response to Kowarz et al.: Gaucher mutation c.680A>G (p.N227S) is associated with myoclonic epilepsy Human Mutation. 26: 274-275. DOI: 10.1002/HUMU.20218  0.56
2004 Montfort M, Garrido E, Hopwood JJ, Grinberg D, Chabás A, Vilageliu L. Expression and functional characterization of human mutant sulfamidase in insect cells. Molecular Genetics and Metabolism. 83: 246-51. PMID 15542396 DOI: 10.1016/j.ymgme.2004.07.001  1
2004 Ioannidis JP, Ralston SH, Bennett ST, Brandi ML, Grinberg D, Karassa FB, Langdahl B, van Meurs JB, Mosekilde L, Scollen S, Albagha OM, Bustamante M, Carey AH, Dunning AM, Enjuanes A, et al. Differential genetic effects of ESR1 gene polymorphisms on osteoporosis outcomes. Jama. 292: 2105-14. PMID 15523071 DOI: 10.1001/jama.292.17.2105  0.72
2004 Montfort M, Chabás A, Vilageliu L, Grinberg D. Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms. Human Mutation. 23: 567-75. PMID 15146461 DOI: 10.1002/humu.20043  1
2003 Diaz-Font A, Cormand B, Chabás A, Vilageliu L, Grinberg D. Unsuccessful chimeraplast strategy for the correction of a mutation causing Gaucher disease. Blood Cells, Molecules & Diseases. 31: 183-6. PMID 12972023 DOI: 10.1016/S1079-9796(03)00157-8  0.92
2003 Urreizti R, Balcells S, Rodés M, Vilarinho L, Baldellou A, Couce ML, Muñoz C, Campistol J, Pintó X, Vilaseca MA, Grinberg D. Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S. Human Mutation. 22: 103. PMID 12815602 DOI: 10.1002/humu.9153  0.84
2003 Enjuanes A, Garcia-Giralt N, Supervia A, Nogués X, Mellibovsky L, Carbonell J, Grinberg D, Balcells S, Díez-Pérez A. Regulation of CYP19 gene expression in primary human osteoblasts: effects of vitamin D and other treatments. European Journal of Endocrinology. 148: 519-26. PMID 12720534  0.84
2003 Díaz-Font A, Cormand B, Blanco M, Chamoles N, Chabás A, Grinberg D, Vilageliu L. Gene rearrangements in the glucocerebrosidase-metaxin region giving rise to disease-causing mutations and polymorphisms. Analysis of 25 Rec NciI alleles in Gaucher disease patients. Human Genetics. 112: 426-9. PMID 12589426 DOI: 10.1007/s00439-002-0894-0  0.92
2002 Garcia-Giralt N, Nogués X, Enjuanes A, Puig J, Mellibovsky L, Bay-Jensen A, Carreras R, Balcells S, Díez-Pérez A, Grinberg D. Two new single-nucleotide polymorphisms in the COL1A1 upstream regulatory region and their relationship to bone mineral density. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. 17: 384-93. PMID 11874231 DOI: 10.1359/jbmr.2002.17.3.384  0.84
2001 Rodríguez-Marí A, Díaz-Font A, Chabás A, Pastores GM, Grinberg D, Vilageliu L. New insights into the origin of the Gaucher disease-causing mutation N370S: extended haplotype analysis using the 5GC3.2, 5470 G/A, and ITG6.2 polymorphisms. Blood Cells, Molecules & Diseases. 27: 950-9. PMID 11783960 DOI: 10.1006/bcmd.2001.0468  1
2001 Chabás A, Montfort M, Martínez-Campos M, Díaz A, Coll MJ, Grinberg D, Vilageliu L. Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation. American Journal of Medical Genetics. 100: 223-8. PMID 11343308 DOI: 10.1002/AJMG.1248  0.44
2000 Cormand B, Díaz A, Grinberg D, Chabás A, Vilageliu L. A new gene-pseudogene fusion allele due to a recombination in intron 2 of the glucocerebrosidase gene causes Gaucher disease. Blood Cells, Molecules & Diseases. 26: 409-16. PMID 11112377 DOI: 10.1006/bcmd.2000.0317  0.92
2000 Díaz A, Montfort M, Cormand B, Zeng B, Pastores GM, Chabás A, Vilageliu L, Grinberg D. On the age of the most prevalent Gaucher disease-causing mutation, N370S. American Journal of Human Genetics. 66: 2014-5. PMID 10801390 DOI: 10.1086/302935  0.92
1999 Díaz A, Montfort M, Cormand B, Zeng B, Pastores GM, Chabás A, Vilageliu L, Grinberg D. Gaucher disease: the N370S mutation in Ashkenazi Jewish and Spanish patients has a common origin and arose several thousand years ago. American Journal of Human Genetics. 64: 1233-8. PMID 10090913 DOI: 10.1086/302341  0.92
1998 Cormand B, Harboe TL, Gort L, Campoy C, Blanco M, Chamoles N, Chabás A, Vilageliu L, Grinberg D. Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutation. American Journal of Medical Genetics. 80: 343-51. PMID 9856561 DOI: 10.1002/(SICI)1096-8628(19981204)80:4<343::AID-AJMG8>3.0.CO;2-W  0.92
1998 Montfort M, Vilageliu L, Garcia-Giralt N, Guidi S, Coll MJ, Chabás A, Grinberg D. Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients. Human Mutation. 12: 274-9. PMID 9744479 DOI: 10.1002/(SICI)1098-1004(1998)12:4<274::AID-HUMU9>3.0.CO;2-F  0.64
1998 Chabás A, Gort L, Montfort M, Castelló F, Domínguez MC, Grinberg D, Vilageliu L. Recurrence of the D409H mutation in Spanish Gaucher disease patients: description of a new homozygous patient and haplotype analysis. Journal of Medical Genetics. 35: 775-7. PMID 9733040 DOI: 10.1136/jmg.35.9.775  0.52
1998 Cormand B, Montfort M, Chabás A, Grinberg D, Vilageliu LL. Reliable co-segregation analysis for prenatal diagnosis and heterozygote detection in Gaucher disease. Prenatal Diagnosis. 18: 207-12. PMID 9556036 DOI: 10.1002/(SICI)1097-0223(199803)18:3<207::AID-PD243>3.0.CO;2-W  0.92
1998 Cormand B, Grinberg D, Gort L, Chabás A, Vilageliu L. Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome. Human Mutation. 11: 295-305. PMID 9554746 DOI: 10.1002/(SICI)1098-1004(1998)11:4<295::AID-HUMU7>3.0.CO;2-6  0.92
1998 Bayés M, Goldaracena B, Martínez-Mir A, Iragui-Madoz MI, Solans T, Chivelet P, Bussaglia E, Ramos-Arroyo MA, Baiget M, Vilageliu L, Balcells S, Gonzàlez-Duarte R, Grinberg D. A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33. Journal of Medical Genetics. 35: 141-5. PMID 9507394 DOI: 10.1136/jmg.35.2.141  0.72
1997 Cormand B, Montfort M, Chabás A, Vilageliu L, Grinberg D. Genetic fine localization of the beta-glucocerebrosidase (GBA) and prosaposin (PSAP) genes: implications for Gaucher disease. Human Genetics. 100: 75-9. PMID 9225972 DOI: 10.1007/s004390050468  0.92
1997 Martínez-Mir A, Vilela C, Bayés M, Valverde D, Dain L, Beneyto M, Marco M, Baiget M, Grinberg D, Balcells S, Gonzàlez-Duarte R, Vilageliu L. Putative association of a mutant ROM1 allele with retinitis pigmentosa. Human Genetics. 99: 827-30. PMID 9187681 DOI: 10.1007/s004390050456  0.56
1997 Cormand B, Grinberg D, Gort L, Fiumara A, Barone R, Vilageliu L, Chabás A. Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses. American Journal of Medical Genetics. 70: 437-43. PMID 9182788 DOI: 10.1002/(SICI)1096-8628(19970627)70:4<437::AID-AJMG19>3.0.CO;2-I  0.92
1997 Martínez-Mir A, Bayés M, Vilageliu L, Grinberg D, Ayuso C, del Río T, García-Sandoval B, Bussaglia E, Baiget M, Gonzàlez-Duarte R, Balcells S. A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21. Genomics. 40: 142-6. PMID 9070931 DOI: 10.1006/geno.1996.4528  1
1997 Bayés M, Martínez-Mir A, Valverde D, del Río E, Vilageliu L, Grinberg D, Balcells S, Ayuso C, Baiget M, Gonzàlez-Duarte R. Autosomal recessive retinitis pigmentosa in Spain: evaluation of four genes and two loci involved in the disease. Clinical Genetics. 50: 380-7. PMID 9007328 DOI: 10.1111/J.1399-0004.1996.TB02392.X  0.44
1996 Chabás A, Cormand B, Balcells S, González-Duarte R, Casanova C, Colomer J, Vilageliu L, Grinberg D. Neuronopathic and non-neuronopathic presentation of Gaucher disease in patients with the third most common mutation (D409H) in Spain. Journal of Inherited Metabolic Disease. 19: 798-800. PMID 8982958  1
1996 Cormand B, Vilageliu L, Balcells S, Gonzàlez-Duarte R, Chabás A, Grinberg D. Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher's disease patients. Human Mutation. 7: 272-4. PMID 8829663 DOI: 10.1002/(SICI)1098-1004(1996)7:3<272::AID-HUMU14>3.0.CO;2-#  0.92
1996 Valverde D, Solans T, Grinberg D, Balcells S, Vilageliu L, Bayés M, Chivelet P, Besmond C, Goossens M, González-Duarte R, Baiget M. A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family. Human Genetics. 97: 35-8. PMID 8557257 DOI: 10.1007/BF00218829  0.56
1995 Chabás A, Cormand B, Grinberg D, Burguera JM, Balcells S, Merino JL, Mate I, Sobrino JA, Gonzàlez-Duarte R, Vilageliu L. Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation. Journal of Medical Genetics. 32: 740-2. PMID 8544197 DOI: 10.1136/jmg.32.9.740  0.92
1995 Cormand B, Vilageliu L, Burguera JM, Balcells S, Gonzàlez-Duarte R, Grinberg D, Chabás A. Gaucher disease in Spanish patients: analysis of eight mutations. Human Mutation. 5: 303-9. PMID 7627184 DOI: 10.1002/humu.1380050406  0.92
1995 Bayés M, Valverde D, Balcells S, Grinberg D, Vilageliu L, Benítez J, Ayuso C, Beneyto M, Baiget M, Gonzàlez-Duarte R. Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families. Human Genetics. 96: 89-94. PMID 7607661 DOI: 10.1007/BF00214192  0.52
1995 Bayés M, Giordano M, Balcells S, Grinberg D, Vilageliu L, Martínez I, Ayuso C, Benítez J, Ramos-Arroyo MA, Chivelet P. Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa. Human Mutation. 5: 228-34. PMID 7599633 DOI: 10.1002/humu.1380050307  0.48
1994 Valverde D, Bayés M, Martínez I, Grinberg D, Vilageliu L, Balcells S, Gonzàlez-Duarte R, Baiget M. Genetic fine localization of the arrestin (S-antigen) gene 4 cM distal from D2S172. Human Genetics. 94: 193-4. PMID 8045567 DOI: 10.1007/BF00202869  0.4
1993 Chabas A, Castellvi S, Bayes M, Balcells S, Grinberg D, Vilageliu LI, Marfany G, Lissens W, Gonzalez-Duarte R. Frequency of the arylsulphatase A pseudodeficiency allele in the Spanish population Clinical Genetics. 44: 320-323. PMID 8131304  0.92
1992 Cobo A, Grinberg D, Balcells S, Vilageliu L, Gonzàlez-Duarte R, Baiget M. Linkage disequilibrium detected between myotonic dystrophy and the anonymous marker D19S63 in the Spanish population. Human Genetics. 89: 287-91. PMID 1351033 DOI: 10.1007/BF00220541  0.4
1989 Grinberg DR, Boronat A, Guinea J. Characterization of B278, a phage different from Mu that also produces auxotrophic mutations in Escherichia coli K12. Journal of General Microbiology. 134: 1333-8. PMID 2974069 DOI: 10.1099/00221287-134-5-1333  0.84
1985 Grinberg DR, Ramírez I, Vilaró S, Reina M, Llobera M, Herrera E. Starvation enhances lipoprotein lipase activity in the liver of the newborn rat. Biochimica Et Biophysica Acta. 833: 217-22. PMID 3882151 DOI: 10.1016/0005-2760(85)90193-6  0.92
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