Articles

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. Eur J Endocrinol 2007;157:677-684

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. Calcifi Tissue Int 2007;81:327-332

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

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, Cáceres 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

S.H. Ralston, A.G. Uitterlinden, M.L. Brandi, S. Balcells, B. L. Langdahl, P. Lips, R. Lorenc, B. Obermayer-Pietsch, S. Scollen, M. Bustamante, L. Bjerre Husted, A. H. Carey, A. Diez-Perez Md, A.M. Dunning, A. Falchetti, E. Karczmarewicz, M. Kruk , J.P.T.M. Van Leeuwen, J.B.J. Van Meurs, J. Mangion, F. E. A. Mcguigan, L. Mellibovsky, F. Del Monte, H.A.P. Pols, J. Reeve, D.M. Reid, W. Renner, F. Rivadeneira, N. Van Schoor, R. E. Sherlock & J.P.A. Ioannidis, For The Genomos Investigators. Large-scale evidence for the effect of the COL1A1 Sp1 polymorphism on osteoporosis outcomes: the GENOMOS study. Plos Med. 2006; 3 E90:515-523

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. J Clin Endocrin Metab. 2006;91:3575-83

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. 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

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

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

García-Giralt N, Enjuanes A, Bustamante M, Mellibovsky L, Nogués X, Díez-Pérez A, Grinberg D, Balcells S. In vitro functional assay of alleles and haplotypes of two COL1A1-promoter SNPs. Bone. 2005;36:902-90

Vilaseca MA, Cuartero ML, Martínez de Salinas M, Lambruschini N, Pintó X, Urreizti R, Balcells S, Grinberg D. Two successful pregnancies in pyridoxine-nonresponsive homocystinuria. Journal of Inherited Metabolic Disease, 2004;27:775-777

Also-Rallo E, López-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 Gyn R B. 2005;120:45-52

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. Hum Mut 2003;22:103

Enjuanes A, Garcia-Giralt N, Supervía 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. Eur J Endocrinol. 2003;148:519-526

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. Hum Mut. 2002;20:476

Mainou C, Garcia-Giralt N, Vilaseca MA, Ferrer I, Meco JF, Mainou A, Pintó X, Grinberg D and Balcells S. Hiperomocisteinemia y polimorfismo 677C>T de la 5,10-metilenotetrahidrofolato reductasa en hijos de pacientes con enfermedad coronaria prematura. Anal Esp Pediatr. 2002;56:402-408

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 channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa. J Med Genet. 2002;39:e66

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 Biol. 2002;3:research0027.1-0027.16

Maugeri A,   Flothmann K,   Hemmrich N, Ingvast S, Jorge P, Paloma E, Patel R, Rozet J-M, Tannur J, Testa F,   Balcells S, Bird AC, Brunner HG, Hoyng CB, Metspalu A, Simonelli F, Allikmets R, Bhattacharya SS, D’Urso M, Gonzàlez-Duarte R, Kaplan J, te Meerman GJ, Santos  R, Schwartz M, Van Camp G, Wadelius C, Weber BHF, Cremers FPM. The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe. Eur J Hum Genet.  2002;10:197-203

Garcia-Giralt N,  Nogués X, Enjuanes A,Puig J,Mellibovsky L,Bay-Jensen A, Carreras R,Balcells S, Díez-Pérez A and GrinbergD. Two new single nucleotide polymorphisms in the COL1A1 upstream regulatory region and their relationship to bone mineral density. J Bone Min Res 2002;17:384-93

Paloma E, Martínez-Mir A, Vilageliu LL, Gonzàlez-Duarte R, Balcells S. Spectrum of ABCA4 (ABCR) mutations in Spanish patients with autosomal recessive macular dystrophies. Hum Mut. 2001;17:504-510

Pintó X, Vilaseca MA, Garcia-Giralt N, Ferrer I, Palà M, Meco JF, Mainou C,  Ordovás JM, Grinberg D, Balcells S and the Baix Llobregat Homocysteine  Study Group. 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

Allikmets R and the International ABCR Screening Consortium. Further Evidence for an Association of ABCR Alleles with Age-Related Macular Degeneration. Am J Hum Genet. 2000;67:487-491

Paloma E, Hjelmqvist L, Bayés M, García-Sandoval B, Ayuso C, Balcells S, Gonzàlez-Duarte R. Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2000;41:656-659

Martínez-Mir A, Paloma E, Allikmets R, Ayuso C, del Rio T, Dean M, Vilageliu LL, Gonzàlez-Duarte  R, Balcells S. Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. Nature genet.1998;18:11-12

Bayés M, Goldaracena B, Martínez-Mir A, Iragui-Muñoz MI, Solans T, Chivelet P, Bussaglia E, Ramos-Arroyo MA, Baiget M, Vilageliu LL, 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

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 Rio 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 1997;40:142-146

Bayés M, Martínez-Mir A, Valverde D, Del Rio E, Vilageliu LL, 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. Clin Genet. 1996;50:380-387

Chabás  A, Cormand B, Balcells S, Gonzàlez-DuarteR, Casanova C, Colomer J, Vilageliu  LL, Grinberg D. Neuronopathic and non-neuronopathic presentation of Gaucher 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 Rio E, García-Sandoval B, Del Rio T, Bayés M, Balcells S, Martínez A, Grinberg D, Ayuso A. Identification of a novel R552Q mutation in exon 13 of the b-Subunit of Rod Phosphodiesterase Gene in a Spanish family with Autosomal Recessive Retinitis Pigmentosa. Hum Mut.1996;8:393-394

Cormand B, Vilageliu LL, Balcells S, Gonzàlez-Duarte R, ChabAs 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 Mut.1996;7:272-274

Valverde D, Solans T, Grinberg D, Balcells S, Vilageliu LL, Bayés M, Chivelet P, 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 consanguineous family. Hum Genet.1996;97:35-38

Chabás A, Cormand B, Grinberg D, Bruguera JM, Balcells S, Merino JL, Mate I, Sobrino JA, Gonzàlez-Duarte R, Vilageliu LL. Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation. J Med Genet.1995;32:740-742

Bayés, Valverde D, Balcells S, Grinberg D, Vilageliu LL, 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, Bruguera JM, Balcells S, Gonzàlez-Duarte R, Grinberg D, Chabás  A. Gaucher Disease in Spanish Patients: Analysis of Eight Mutations. Hum Mut.1995;5:303-309

Bayés M, Giordano M, Balcells S, Grinberg D, Vilageliu LL, Martínez I, Ayuso C, Benítez J, Ramos-Arroyo MA, Chivelet P, Solans T, Valverde D, Anselem S, Goossens 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 Mut. 1995;5:228-234

Valverde D, Bayés M, MartInez 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

Chabás A, Castellví 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

Cobo A, Grinberg D, Balcells S, Vilageliu LL, Gonzàlez-Duarte R, Baiget M. Linkage disequilibrium detected between myotonic dystrophy and the anonymous marker D19S63 in the Spanish population. Hum Genet. 1992;89:287-29

Maxson R, Ito M, Balcells S, Thayer M, French M, Lee F, Etkin E. Differential Stimulation of Sea Urchin Early and Late H2B Histone Gene Expression by a Gastrula Nuclear Extract following Injection into Xenopus oocytes. Mol Cell Biol. 1988;8:1236-1246

Etkin LD, Balcells S. Transformed Xenopus embryos as a transient expression system to analyze gene expression at the Mid-Blastula Transition. Dev Biol. 1985;108:173-178

Martínez-Mir A, Paloma E, Balcells S, Vilageliu LL, Pittler SJ, Gonàlez-Duarte R. Genetic mapping and evaluation of PDE6A in 49 Spanish families with autosomal recessive retinitis pigmentosa. In "Retinal Degenerative Diseases and Experimental Therapy". J.G. Hollyfield, R.E. Anderson & M.M. LaVail (eds.) Kluwer Academic/Plenum Publishers, New York,1999

Gonzàlez-Duarte R, BAYES M, Martínez-Mir A, Valverde D, Baiget M, Balcells S, Vilageliu LL, Grinberg D. Strategies for the genetic analysis of autosomal recessive retinitis pigmentosa in Spanish families. In "Degenerative Retinal Diseases". M.M. LaVail, J.G. Hollyfield & R.E. Anderson (eds.) Plenum Publishing Corporation, New York : 263-275,1997

Maxson R, Ito M, Balcells S, Thayer M, Etkin E.Stimulation of Sea Urchin early and late histone gene expression in Xenopus oocytes by a gastrula nuclear extract. In "Molecular Approaches to Developmental Biology". R.Firtel and E.Davidson (Eds.) Alan R.Liss, Inc.:253-265,1987

Etkin LD, Pearman B, Balcells S. Regulation of heterologous genes injected into oocytes and eggs of Xenopus laevis. In "Molecular Genetics of Mammalian Cells". Malacinski,G.M., C.C.Simonsen & M.Shepard (eds.) Macmillan PC, London . Chapter 10, pp:247-268, 1985