Susana Balcells - Publications

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68 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
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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, 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  0.76
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, ... ... Balcells S, 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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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, ... Balcells S, 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  0.76
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  0.76
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  0.76
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  0.76
2012 Liu CT, Estrada K, Yerges-Armstrong LM, Amin N, Evangelou E, Li G, Minster RL, Carless MA, Kammerer CM, Oei L, Zhou Y, Alonso N, Dailiana Z, Eriksson J, García-Giralt N, ... ... Balcells S, et al. Assessment of gene-by-sex interaction effect on bone mineral density. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. 27: 2051-64. PMID 22692763 DOI: 10.1002/Jbmr.1679  0.76
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  0.76
2012 Estrada K, Styrkarsdottir U, Evangelou E, Hsu YH, Duncan EL, Ntzani EE, Oei L, Albagha OM, Amin N, Kemp JP, Koller DL, Li G, Liu CT, Minster RL, Moayyeri A, ... ... Balcells S, et al. Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Nature Genetics. 44: 491-501. PMID 22504420 DOI: 10.1038/Ng.2249  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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, ... ... Balcells S, 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  0.76
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  0.76
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  0.76
2008 van Meurs JB, Trikalinos TA, Ralston SH, Balcells S, Brandi ML, Brixen K, Kiel DP, Langdahl BL, Lips P, Ljunggren O, Lorenc R, Obermayer-Pietsch B, Ohlsson C, Pettersson U, Reid DM, et al. Large-scale analysis of association between LRP5 and LRP6 variants and osteoporosis. Jama. 299: 1277-90. PMID 18349089 DOI: 10.1001/Jama.299.11.1277  0.48
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, ... ... Balcells S, 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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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, ... ... Balcells S, 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  0.76
2006 Ralston SH, Uitterlinden AG, Brandi ML, Balcells S, Langdahl BL, Lips P, Lorenc R, Obermayer-Pietsch B, Scollen S, Bustamante M, Husted LB, Carey AH, Diez-Perez A, Dunning AM, Falchetti A, et al. Large-scale evidence for the effect of the COLIA1 Sp1 polymorphism on osteoporosis outcomes: the GENOMOS study. Plos Medicine. 3: e90. PMID 16475872 DOI: 10.1371/journal.pmed.0030090  0.56
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
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  0.76
2002 Paloma E, Coco R, Martínez-Mir A, Vilageliu L, Balcells S, Gonzàlez-Duarte R. Analysis of ABCA4 in mixed Spanish families segregating different retinal dystrophies. Human Mutation. 20: 476. PMID 12442277 DOI: 10.1002/humu.9086  0.76
2002 Paloma E, Martínez-Mir A, García-Sandoval B, Ayuso C, Vilageliu L, Gonzàlez-Duarte R, Balcells S. Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa. Journal of Medical Genetics. 39: E66. PMID 12362048 DOI: 10.1136/jmg.39.10.e66  0.48
2002 Hjelmqvist L, Tuson M, Marfany G, Herrero E, Balcells S, Gonzàlez-Duarte R. ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteins. Genome Biology. 3: RESEARCH0027. PMID 12093374 DOI: 10.1186/gb-2002-3-6-research0027  0.56
2002 Maugeri A, Flothmann K, Hemmrich N, Ingvast S, Jorge P, Paloma E, Patel R, Rozet JM, Tammur J, Testa F, Balcells S, Bird AC, Brunner HG, Hoyng CB, Metspalu A, et al. The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe. European Journal of Human Genetics : Ejhg. 10: 197-203. PMID 11973624 DOI: 10.1038/Sj.Ejhg.5200784  0.76
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  0.76
2001 Paloma E, Martínez-Mir A, Vilageliu L, Gonzàlez-Duarte R, Balcells S. Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies. Human Mutation. 17: 504-10. PMID 11385708 DOI: 10.1002/humu.1133  0.68
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  0.6
1998 Martínez-Mir A, Paloma E, Allikmets R, Ayuso C, del Rio T, Dean M, Vilageliu L, Gonzàlez-Duarte R, Balcells S. Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. Nature Genetics. 18: 11-2. PMID 9425888 DOI: 10.1038/ng0198-11  0.76
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  0.36
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  0.76
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  0.32
1996 Valverde D, Baiget M, Seminago R, del Rio E, García-Sandoval B, del Rio T, Bayés M, Balcells S, Martínez A, Grinberg D, Ayuso C. Identification of a novel R552O mutation in exon 13 of the beta-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa. Human Mutation. 8: 393-4. PMID 8956055 DOI: 10.1002/humu.1380080403  0.76
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-#  0.76
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  0.44
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  0.76
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  0.76
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  0.4
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  0.36
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  0.76
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
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