Departament de Genètica 


Susana Balcells
Neus Cols
Bru Cormand
Roser Gonzàlez
Daniel Grinberg
Gemma Marfany
Lluïsa Vilageliu





Rodríguez-Pascau L, Toma C, Macías-Vidal J, Cozar M, Cormand B, Lykopoulou L, Coll MJ, Grinberg D, Vilageliu L. Characterization of two deletions involving NPC1 and flanking genes in Niemann-Pick type C disease patients. Mol Genet Metab. 2012; 107:716-720.

Giraldo P, Alfonso P, Irun P, Gort G, Chabás A, Vilageliu L, Grinberg D, Sa Miranda C and Pocovi M. Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula. Orphanet J Rare Dis. 2012; 7:17.

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, Blesa R, Lleó A, Hardy J, Kulisevsky J and Clarimón J. Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson’s disease course. Mov Disord. 2012; 27:393-399.

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. J Inherit Metabol Dis Reports. 2012; 4:29-37.

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. J Bone Joint Surg Am. 2012;94:e76

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. J Bone Miner Res. 2012;27:950-3.

Moraitou M, Hadjigeorgiou G, Monopolis I, Dardiotis E, Bozi M, Vassiliatis 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. Mol Genet Metab. 2011; 104:149-152. 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. Hum Mutat, 2011; 32:835-342.

Agueda L, Velázquez-Cruz R, Urreizti R, Yoskovitz G, Sarrion 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. J Bone Miner Res, 2011; 26:1133-1144.

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. Mol Genet Metab, 2011; 102:226-228.

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. Clin Genet, 2011; 80:367-374.

Macías-Vidal J, Rodríguez-Pascau L, Sánchez-Ollé G, Lluch M, Vilageliu L, Grinberg D, Coll MJ; the Spanish NPC Working Group. Molecular analysis of 30 Niemann-Pick type C patients from Spain. Clin Genet, 2011; 80:39-49.

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. J Inherit Metab Dis. 2010; 33:397-403.

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. Calcif Tissue Int. 2010;87:14-24.

Urreizti R, Moya-García A, 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, Fowler B, Ribes A, Sanchez F, Grinberg D, Balcells S. Molecular characterization of five patients with homocystinuria due to severe MTHFR deficiency. Clin Genet., 2010; 78: 441-448.

Jurado S, Garcia-Giralt N, Díez-Pérez A, Esbrit P, Yoskovitz G, Agueda L, Urreizti R, Pérez-Edo L, Saló S, Mellibovsky L, Balcells S, Grinberg D, Nogués X. Effect of IL-1β, PGE2 and TGF-β1 on the expression of OPG and RANKL in normal and osteoporotic primary human osteoblasts. J Cell Biochem., 2010; 110: 304-310.

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. Osteoporos Int. 2010; 21:287-96.

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 Mol Dis. 2010; 44:82-3.

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. Hum Mutat. 2009; 30:E993-E1001.

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. Hum Mutat. 2009; 30:1117-22.

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 Mol Dis. 2009; 42:159-66.

Santamaria R, Vilageliu L, Grinberg D. SR proteins and the nonsense-mediated decay mechanism are involved in human GLB1 gene alternative splicing. BMC Res Notes. 2008; 1:137

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. J Bone Miner Res. 2008;23:1954-63

Santamaria R, Michelakakis H, Moraitou M, Dimitriou E, Dominissini S, Grossi S, Sànchez-Ollé G, Chabàs 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. Hum Mutat. 2008;29:E58-67

Garrido E, Cormand B, Hopwood JJ, Chabàs A, Grinberg D, Vilageliu L. Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene. Mol Genet Metab. 2008;94:305-12

Atrian S, López-Viñas E, Gómez-Puertas P, Chabàs 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. 2008;70:882-91

Grinberg D. Recent patents relating to siRNAs and therapeutic strategies for genetic diseases. Recent Patents DNA Gene Seq. 2008; 2:40-43

Bustamante M, Nogués X, Mellibovsky L, Agueda L, Jurado S, Càceres 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. Eur J Endocrinol 2007;157:677-684

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. J Lipid Res 2007;48:2275-2282

Bustamante M, Nogués X, Agueda L, Jurado S, Wesselius A, Càceres 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. Calcifi Tissue Int 2007;81:327-332

Garrido E, Chabàs 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. Mol Genet Metabol 2007;92:122-130

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. Clin Biochem 2007;40:864-868

Gort L, Santamaria R, Grinberg D, Vilageliu L, Chabàs A. Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis. Clin Genet 2007;72:109-111

Santamaria R, Blanco M, Chabás A, Grinberg D, Vilageliu L. Identification of 14 novel GLB1 mutations, including five deletions, in 19 GM1-gangliosidosis patients from South-America. Clin Genet 2007, 71:273-279

Ruiz-Gaspa S, Nogués X, Enjuanes A, Monllau JC, Blanch J, Carreras R, Mellibovsky L, Grinberg D, Balcells S, Díez-Pérez A, Pedro-Botet J. Simvastatin and atorvastatin enhance gene expression of collagen type 1 and osteocalcin in primary human osteoblasts and MG-63 cultures. J Cell Biochem 2007,101:1430-1438

Bustamante M, Nogués X, Enjuanes A, Elosua R, García-Giralt N, Pérez-Edo L, Càceres E, Carreras R, Mellibovsky L, Balcells S, Díez-Pérez A, Grinberg D. COL1A1, ESR1, VDR and TGFB1 polymorphisms and haplotypes in relation to BMD in Spanish postmenopausal women. Osteopor Int 2007,18:235-243

Mellibovsky L, Bustamante M, Lluch P, Nogués X, Grinberg D, Balcells S, Díez-Pérez A. Bone mass of a 113 year-old man. J Gerontol A: Biol Sci Med Sci 2007;62:794-795

Diaz-Font A, Chabàs 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 Cell Mol Dis 2006;37:197-203

Uitterlinden AG, Ralston SH, Brandi ML, Carey AH, Grinberg D, Langdahl BL, Lips P, Lorenc R, Obermayer-Pietsch B, Reeve J, Reid DM, Amidei A, Bassiti A, Bustamante M, Husted LB, Díez-Pérez A, Dobnig H, Dunning AM, Enjuanes A, Fahrleitner-Pammer A, Fang Y, Karczmarewicz E, Kruk M, van Leeuwen JPTM, Mavilia C, van Meurs JBJ, Mangion J, McGuigan FEA, Pols HAP, Renner W, Rivadeneira F, van Schoor NM, Scollen S, Sherlock RE, Ioannidis JPA. The Association between Common Vitamin D Receptor Gene Variations and Osteoporosis: A Participant-Level Meta-Analysis. Ann Int Med 2006;145:255-264

Santamaria R, Chabàs A, Coll MJ, Sa Miranda C, 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. Hum Mutat 2006;27:1060 (#922)

Michelakakis H, Moraitou M, Dimitriou E, Santamaria R, Sànchez G, Gort L, Chabàs A, Grinberg D, Dassopoulou M, Fotopoulos S, Vilageliu L. Homozygosity for the double D409H+H255Q allele in type II Gaucher disease. J Inherit Metab Dis 2006;29:591 (#011)

Stewart TL, Jin H, McGuigan FEA, Albagha OME, García-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. J Clin Endocrin Metab 2006;91:3575-83

Bermúdez M, Frank N, Bernal J, Urreizti R, Briceño I, Merinero B, Pérez-Cerdà C, Ugarte M, Grinberg D, Balcells S, Kraus JP. High Prevalence of CBS p.T191M Mutation in Homocystinuric Patients from Colombia. Hum Mutat 2006;27:296 (#887)

Urreizti R, Asteggiano C, Bermudez M, Córdoba A, Szlago M, Grosso C, Kremer R, Vilarinho L, D’Almeida V, Martínez-Pardo M, Peña-Quintana L, Dalmau J, Bernal J, Briceño I, Couce ML, Rodés M, Vilaseca MA, Balcells S, Grinberg D. The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America. J Hum Genet 2006;51:305-313

Urreizti R, Asteggiano C, Cozar M, Frank N, Vilaseca MA, Grinberg D, Balcells S. Functional assays testing pathogenicity of 14 cystathionine beta-synthase mutations. Hum Mutat 2006;27:211 (#866)

Enjuanes A, García-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 2006, 38:738-743

Montfort M, Chabàs A, Vilageliu L, Grinberg D. Analysis of nonsense-mediated mRNA decay in mutant alleles identified in Spanish Gaucher disease patients. Blood Cell Mol Dis 2006;36:46-52

Enjuanes A, García-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 osteoblast and their role in vitamin D and dexamethasone stimulation. Eur J Endocrinol 2005;153:981-988

Díaz-Font A, Santamaría R, Cozar M, Blanco M, Chamoles N, Coll MJ, Chabàs A, Vilageliu L, Grinberg D.  Clinical and mutational characterization of three patients with multiple sulfatase deficiency: report of a new splicing mutation. Mol Genet Metabol 2005;86:206-211

Díaz-Font A; Santamaría R; Cozar M; Blanco M; Chamoles N; Coll MJ; Chabàs A; Vilageliu L; Grinberg, D. Clinical and mutational characterization of three patients with multiple sulfatase deficiency: report of a new splicing mutation. Mol Genet Metab (en premsa)

Montfort M, Chabàs A, Vilageliu L, Grinberg D.   A response to Kowartz et al. : Gaucher mutation c.680A>G (p.N227S) is associated with myoclonic epilepsy. Hum Mutat 2005;26:274-275

Chabàs A, Gort L, Díaz-Font A, Montfort M, Santamaria R, Cidràs, 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 Mol Dis 2005;35:253-258

Díaz-Font A, Cormand B, Santamaria R, Vilageliu L, Grinberg D, Chabàs A. A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity. Hum Genet 2005;117:275-277

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. Int J Med Sci 2005;2:58-63

Garcia-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 2005;36:902-908

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. Eur J Obstet Gynecol Reprod Biol. 2005;120:45-52

Ioannidis J, Ralston S, Bennett S, Brandi M, Grinberg D, Karassa F, Langdahl B, van Meurs J, Mosekilde L, Scollen S, Albagha O, Bustamante M, Carey A, Dunning A, Enjuanes A, van Leeuwen J, Mavilia C, Masi L, McGuigan F, Nogues X, Pols H, Reid D, Schuit S, Sherlock R, Uitterlinden A. Differential genetic effects of ESR1 gene polymorphisms on osteoporosis outcomes. JAMA. 2004;292:2105-2114

Vilaseca M.A, Cuartero M.L, Martínez de Salinas M, Lambruschini N, Pintó X, Urreizti R, Balcells S, Grinberg D. Two succesful pregnancies in pyridoxine-nonresponsive homocystinuria. J Inher Metab Dis. 2004;27:775-777

Montfort M, Garrido E, Hopwood J.J, Grinberg D, Chabàs A, Vilageliu L. Expression and functional characterization of human sulfamidase in insect cells. Mol Genet Metabol. 2004;83:246-251

Montfort M, Chabàs A, Vilageliu L, Grinberg D. Functional analysis of 13 mutant alleles identified in Gaucher disease patients: pathogenic changes and 'modifiers' polymorphisms. Hum Mutat. 2004;23:567-575

Diaz-Font A, Cormand B, Chabas A, Vilageliu L, Grinberg D. Unsuccessful chimeraplast strategy for the correction of a mutation causing Gaucher disease. Blood Cells Mol Dis. 2003;31:183-186

Urreizti R, Balcells S, Rodes M, Vilarinho L, Baldellou A, Couce M.L, Muñoz C, Campistol J, Pintó X, Vilaseca M.A, Grinberg D. Spectrum of CBS mutationt in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S. Hum Mutat. 2003;22:103

Enjuanes A, Garcia-Giralt N, Supervia A, Nogués X, Mellibovsky L, Carbonell J, Grinberg D, Balcells S, Díez-Pérez A. Vitamin D Stimulation of CYP19 (Cytochrome P450 Aromatase) Gene Expression in Primary Normal Human Osteoblasts. Eur  J Endocrinol. 2003;148:519-526

Díaz-Font A, Cormand B, Blanco M, Chamoles N, Chabàs A, Grinberg D, Vilageliu L. Gene rearrangements in the glucocerebrosidase-metaxin region giving rise to disease-causing mutations and polymorphisms. Analysis of 25 RecNciI alleles in Gaucher disease patients. Hum Genet. 2003;112:426-429

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. J Bone Min Res. 2002; 17: 384-393

Rodríguez-Marí A, Díaz-Font A, Chabàs A, Pastores G.M, 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 the ITG6.2 polymorphisms. Blood Cells, Mol Dis. 2001;27:950-959

Chabàs A, Montfort M, Martinez-Campos M, Diaz A, Coll M.J, Grinberg D, Vilageliu L. Mutation and haplotype analyses in 26 Spanish Sanfilippo Syndrome type A patients: possible single origin for 1096delC mutation. Am J Med Genet. 2001;100:223-228

Pintó X, Vilaseca M.A, Garcia-Giralt N, Ferrer I, Palà M, Meco J.F, Mainou C, Ordovàs J.M, Grinberg D, Balcells S. Homocysteine and the MTHFR 677 C->T allele in premature coronary artery disease. Case control and family studies.Eur J Clin Invest. 2001;31:24-30

Díaz A, Montfort M, Cormand B, Zeng B,Pastores GM, Chabàs A, Vilageliu L, Grinberg D. On the Age of the Most Prevalent Gaucher Disease-Causing Mutation, N370S. Am J Hum Genet. 2000;66:2014-2015

Obach V, Arroyo S, Santamaria J, Grinberg D, Oliva R. No evidence of linkage to 6p markers in Spanish families with juvenile myoclonic epilepsy. Neurosci Lett. 2000;286:213-217

Cormand B, Díaz A , Grinberg D, Chabàs 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, Mol Dis. 2000;26:409-416

Díaz A, Montfort M, Cormand B, Zeng B,Pastores GM, Chabàs A, Vilageliu L, Grinberg D. Gaucher disease: The N370S mutation in Ashkenazi Jewish and Spanish patients has a common origin and arose several thousands of years ago. Am J Hum Genet. 1999;64:1233-1238

Cormand B, Harboe TL, Chamoles N, Gort L, Chabàs A, Vilageliu L, Grinberg D. Mutation Analysis in Gaucher Disease Patients from Argentina: High prevalence of the RecNciI Mutation. Am J Med Genet. 1998;80:343-351

Montfort M, Vilageliu L, García-Giralt N, Guidi S, Coll MJ, Chabàs A, Grinberg D. Mutation 1091 is highly prevation in Spanish Sanfilippo syndrome type A patients. Hum Mutat. 1998;12:274-279

Chabàs A, Gort L, Montfort M, Castelló F, Domínguez MC, Grinberg D, Vilageliu L. Recurrence of the D409H mutation in Spanish Gaucher's patients: description of a new homozygous patient and haplotype analysis. J Med Genet. 1998;35:775-777

Cormand B, Grinberg D, Gort L, Chabàs A, Vilageliu L. Molecular Analysis and Clinical Findings in the Spanish Gaucher Disease Population. Putative Haplotype of the N370S Ancestral Chromosome. Hum Mutat. 1998;11:295-305

Bayés M, Goldaracena B, Martínez-Mir A, Iragui-Madoz M.I, Solans T, Chivelet P, Bussaglia E. Ramos-Arroyo M.A, Baiget M, VilageliuLl, Balcells S, Gonzàlez-Duarte R, Grinberg D. A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33. J Med Genet. 1998;35:141-145

Cormand B, Montfort M, Chabàs A, Grinberg D, Vilageliu L. Reliable Cosegregation Analysis for Prenatal Diagnosis and Heterozygous Detection in Gaucher Disease. Prenatal Diag. 1998;18:207-212

Cormand B, Montfort M, Chabàs A, Vilageliu L, Grinberg D. Genetic Fine Localization of the b-glucocerebrosidase (GBA) and Prosaposin (PSAP) Genes: Implications for Gaucher Disease. Hum Genet. 1997;100:75-79

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. Hum Genet. 1997; 99:827-830

Martínez-Mir A, Bayés M, Vilageliu Ll, Grinberg D, Ayuso C, Del Río T, García-Sandoval T, Bussaglia E, Baiget M, Gonzàlez-Duarte R, Balcells S. A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21. Genomics. 1997; 40:142-146

Cormand B, Grinberg D, Gort L, Fiumara A, Barone R, Vilageliu L, Chabàs A. Two New Mild Homozygous Mutations in Gaucher's Disease Patients. Clinical Signs and Biochemical Analyses. Am J Med Genet. 1997;70:437-443

Bayés M, Martínez-Mir A, Valverde D, Del Río E, Vilageliu Ll, Grinberg D, Balcells S, Ayuso C, Baiget M, Gonzàlez-Duarte R. Autosomal recessive retinitis pigmentosa in Spain: evaluation of 4 genes and 2 loci involved in the disease. Clin Genet. 1996;50:380-387

Chabàs A, Cormand B, Balcells S, Gonzàlez-Duarte R, Casanova C, Colomer J, Vilageliu L, Grinberg D. Neuronopathic and Nonneuronopathic Presentation of Gaucher’s Disease in Patients with the Third Most Common Mutation (D409H) in Spain. J Inher Metab Dis. 1996;19:798-800

Valverde D, Baiget M, Seminago R, Del Río E, García-Sandoval M, Del Rio T, Bayés M, Balcells S, Martínez-Mir A, Grinberg D, Ayuso C. Identification of a novel (R552Q) mutation in exon 13 of the b-subunit of rod phosphodiesterase in a Spanish family with autosomal recessive retinitis pigmentosa. Hum Mutat. 1996;8:393-394

Valverde D, Solans T, Grinberg G. Balcells S, Vilageliu L, BayésM, Chivelet M, Besmond C, Goossens M, Gonzàlez-Duarte R, Baiget M. A novel mutation in exon 17 of the b-subunit of rod phosphodiesterase in two RP sisters of a consaguineous family. Hum Genet. 1996; 97: 35-38

Cormand B, Vilageliu L, Balcells S, Gonzàlez-Duarte R, Chabàs A, Grinberg D. Two Novel (1098insA and Y313H) and One Rare (R359Q) Mutations Detected in Exon 8 of the b-Glucocerebrosidase Gene in Gaucher's Disease Patients. Hum Mutat. 1996;7:272-274

Bayés M, Giordano M, Balcells S, Grinberg D, Vilageliu L, Martínez I, Ayuso C, Benítez J, Ramos-Arroyo M.A, Chivelet P, Solans T, Valverde D, Amselem S, Goosens M, Baiget M. Gonzàlez-Duarte R. & Besmond C. Homozygous tandem duplication within the gene encoding the b-subunit of rod phosphodiesterase as a cause for autosomal recessive Retinitis Pigmentosa. Hum Mutat. 1995;5:228-234

Chabàs A, Cormand B, Grinberg D, Burguera JM, Balcells S, Merino JL, Gonzàlez-Duarte R, Vilageliu L. Unusual Expression of Gaucher's Disease: Cardiovascular Calcifications in Three Siblings Homozygous for the D409H Mutation. J Med Genet. 1995;32:740-742

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. Hum Genet. 1995; 96: 89-94

Cormand B, Vilageliu L, Burguera JM, Balcells S, Gonzàlez-Duarte R, Grinberg D, Chabàs A. Gaucher Disease in Spanish Patients: Analysis of Eight Mutations. Hum Mutat. 1995;5:303-309

Valverde D, Bayés M, Martínez I, Grinberg D, Vilageliu Ll, Balcells S, Gonzàlez-Duarte R, Baiget M. Genetic fine localization of the arrestin (S-antigen) gene 4 cM distal from D2S172. Hum Genet.1994;94:193-194

Chabàs A, Castellvi S, Bayés M, Balcells S, Grinberg D, Vilageliu Ll, Marfany G, Lissens W, Gonzàlez-Duarte R. Frequency of the arylsulphatase A pseudodeficiency allele in the Spanish population. Clin Genet. 1993;44:320-323

Murakami A, Grinberg D, Thurlow J, Dickson C. Identification of Positive and Negative Regulatory Elements involved in the Retinoic acid/cAMP induction of Fgf-3 transcription in F9 cells. Nucleic Acid Res. 1993;21:5351-5359

Cobo A, Grinberg D, Balcells S, Vilageliu Ll, Gonzàlez-Duarte R, Baiget M. Linkage desequilibrium detected between myotonic dystrophy and the anonymous marker D19S63 in the Spanish population. Hum Genet 1992;89:287-291

Grinberg D, Thurlow J, Watson R, Smith R, Peters G, Dickson C. Transcriptional regulation of the int-2 gene in embryonal carcinona cells. Cell Growth Differ. 1991;2:137-143

Grinberg D Boronat A Guinea J. Characterization of B 278 a phage different Mu also produces auxotrophic mutation in E. coli K12. J Gen Microbiol. 1988;134:133-1338

Grinberg DR, Ramírez I, Vilaró S, Reina M, Llobera M, Herrera E. Starvation enhances lipoprotein lipase activity in the liver of newborn rat. Biochim Biophys Acta. 1985;833:217-222

Book chapters

Grinberg D, Chabàs A, Cormand B, Gort L, Montfort M, Díaz-Font A, Vilageliu L. Molecular basis of Gaucher disease. In: Recent Research Developments in Human Genetics. S.G. Pandalai (ed.). Research Singpost vol. I part I: 223-235, 2003

Chabàs A, Vilageliu L, Grinberg D. Gaucher disease: a lysosomal disorder. In: Lectures in molecular Pathologhy. Sastre, F.; Guinovart, J. (eds.). Springer Verlag. 367-405, 2000

Gonzàlez-Duarte R., Bayés M, Martínez-Mir A, Valverde D, Beneyto M, Balcells S, Baiget, Vilageliu L, Grinberg, D. Strategies for the genetic analysis od autosomal recessive retinitis pigmentosa in Spanish families. In: Degenerative Retinal Diseases. M.M. LaVail, J.G. Hollyfield & R.E. Anderson eds.). Plenum Publishing Corp. New York, vol 29: 236-275, 1997