S. Balcells

发表

Simvastatin and atorvastatin enhance gene expression of collagen type 1 and osteocalcin in primary human osteoblasts and MG‐63 cultures

A. Díez-Pérez, A. Enjuanes, J. Monllau, 2007, Journal of cellular biochemistry.

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

Daniel L. Koller, David M. Evans, D. Kiel, 2012, Nature Genetics.

Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa.

M. Bayés, S. Balcells, C. Ayuso, 2000, Investigative ophthalmology & visual science.

Expression profiling of microRNAs in human bone tissue from postmenopausal women

A. Díez-Pérez, X. Nogués, L. Mellibovsky, 2017, Human Cell.

In vitro functional assay of alleles and haplotypes of two COL1A1-promoter SNPs.

A. Díez-Pérez, A. Enjuanes, M. Bustamante, 2005, Bone.

Promoter 2 -1025 T/C Polymorphism in the RUNX2 Gene Is Associated with Femoral Neck BMD in Spanish Postmenopausal Women

A. Díez-Pérez, M. Bustamante, X. Nogués, 2007, Calcified Tissue International.

A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG

D. Grinberg, S. Balcells, R. Urreizti, 2014, Scientific Reports.

Regulation of CYP19 gene expression in primary human osteoblasts: effects of vitamin D and other treatments.

Jordi Carbonell, Daniel Grinberg, A. Díez-Pérez, 2003, European journal of endocrinology.

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.

A. Díez-Pérez, A. Enjuanes, M. Bustamante, 2005, European journal of endocrinology.

The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe

M. D'urso, C. Wadelius, A. Metspalu, 2002, European Journal of Human Genetics.

MiRNA profiling of whole trabecular bone: identification of osteoporosis-related changes in MiRNAs in human hip bones

A. Díez-Pérez, X. Nogués, L. Mellibovsky, 2015, BMC Medical Genomics.

Genetic determinants of aromatase inhibitor-related arthralgia: the B-ABLE cohort study

A. Díez-Pérez, J. Albanell, S. Servitja, 2013, Breast Cancer Research and Treatment.

COL1A1, ESR1, VDR and TGFB1 polymorphisms and haplotypes in relation to BMD in Spanish postmenopausal women

A. Díez-Pérez, A. Enjuanes, R. Elosua, 2007, Osteoporosis International.

Analysis of ABCA4 in mixed Spanish families segregating different retinal dystrophies

S. Balcells, A. Martinez-Mir, R. Gonzàlez-Duarte, 2002, Human mutation.

Bone mass of a 113-year-old man.

A. Díez-Pérez, M. Bustamante, X. Nogués, 2007, The journals of gerontology. Series A, Biological sciences and medical sciences.

Two New Single‐Nucleotide Polymorphisms in the COL1A1 Upstream Regulatory Region and Their Relationship to Bone Mineral Density

A. Díez-Pérez, A. Enjuanes, X. Nogués, 2002, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Genetic Analysis of High Bone Mass Cases from the BARCOS Cohort of Spanish Postmenopausal Women

A. Díez-Pérez, S. Civit, X. Nogués, 2014, PloS one.

Edinburgh Research Explorer Assessment of gene-by-sex interaction effect on bone mineral density

Elza, T. Spector, P. Sham, 2018 .

Case report of a child bearing a novel deleterious splicing variant in PIGT

D. Grinberg, S. Balcells, R. Urreizti, 2019, Medicine.

Pro-osteoporotic miR-320a impairs osteoblast function and induces oxidative stress

A. Díez-Pérez, X. Nogués, D. Grinberg, 2018, PloS one.

A CBS haplotype and a polymorphism at the MSR gene are associated with cardiovascular disease in a Spanish case-control study.

D. Grinberg, S. Balcells, M. Vilaseca, 2007, Clinical biochemistry.

GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates.

J. Abril, A. Díez-Pérez, J. Dopazo, 2017, The New England journal of medicine.

Impotence and diabetes mellitus.

S. Balcells, J. F. Jiménez, J. Conejero, 1977, European urology.

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas

P. Lapunzina, J. Nevado, J. Armstrong, 2013, Scientific Reports.

Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.

J. Sobrino, J. Merino, B. Cormand, 1995, Journal of medical genetics.

Gaucher disease in Spanish patients: Analysis of eight mutations

B. Cormand, D. Grinberg, S. Balcells, 1995, Human mutation.

ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteins

G. Marfany, Enric Herrero, S. Balcells, 2002, Genome Biology.

Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa

S. Balcells, C. Ayuso, A. Martinez-Mir, 2002, Journal of medical genetics.

Assessment of gene‐by‐sex interaction effect on bone mineral density

D. Kiel, A. Hofman, A. Uitterlinden, 2012, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

CYP11A1 expression in bone is associated with aromatase inhibitor-related bone loss.

A. Díez-Pérez, S. Servitja, I. Tusquets, 2015, Journal of molecular endocrinology.

A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome

J. Opitz, B. Cormand, G. Neri, 2018, Scientific Reports.

Effect of IL‐1β, PGE2, and TGF‐β1 on the expression of OPG and RANKL in normal and osteoporotic primary human osteoblasts

A. Díez-Pérez, P. Esbrit, X. Nogués, 2010, Journal of cellular biochemistry.

Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency

F. Sánchez-Jiménez, A. Ribes, L. Vilarinho, 2010, Clinical genetics.

Functional relevance of the BMD‐associated polymorphism rs312009: Novel Involvement of RUNX2 in LRP5 transcriptional regulation

A. Díez-Pérez, P. Marie, X. Nogués, 2011, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21.

M. Bayés, M. Baiget, D. Grinberg, 1997, Genomics.

Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies

S. Balcells, A. Martinez-Mir, R. Gonzàlez-Duarte, 2001, Human mutation.

Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR

M. Dean, R. Allikmets, S. Balcells, 1998, Nature Genetics.

The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America

M. Martínez-Pardo, L. Vilarinho, M. Couce, 2006, Journal of Human Genetics.

Haplotypes defined by promoter and intron 1 polymorphisms of the COLIA1 gene regulate bone mineral density in women.

D. Reid, S. Ralston, O. Albagha, 2006, The Journal of clinical endocrinology and metabolism.

Analyses of RANK and RANKL in the Post‐GWAS Context: Functional Evidence of Vitamin D Stimulation Through a RANKL Distal Region

A. Díez-Pérez, X. Nogués, L. Mellibovsky, 2013, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Large-scale analysis of association between LRP5 and LRP6 variants and osteoporosis.

D. Kiel, A. Hofman, A. Uitterlinden, 2008, JAMA.

Common and rare variants of WNT16, DKK1 and SOST and their relationship with bone mineral density

A. Díez-Pérez, X. Nogués, L. Mellibovsky, 2018, Scientific Reports.

Discrepancy between bone density and bone material strength index in three siblings with Camurati-Engelmann disease

A. Díez-Pérez, X. Nogués, D. Grinberg, 2017, Osteoporosis International.

Human-derived alleles in SOST and RUNX2 3′UTRs cause differential regulation in a bone cell-line model

C. Boeckx, J. Moriano, D. Grinberg, 2021, bioRxiv.

MiRNA profiling of whole trabecular bone: identification of osteoporosis-related changes in MiRNAs in human hip bones

A. Díez-Pérez, X. Nogués, L. Mellibovsky, 2015, BMC Medical Genomics.

Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients

L. Vilarinho, D. Grinberg, S. Balcells, 2011, Human mutation.

High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia

C. Pérez-Cerdá, B. Merinero, M. Ugarte, 2006, Human mutation.

The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America

M. Martínez-Pardo, L. Vilarinho, M. Couce, 2007, Journal of Human Genetics.

Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: High prevalence of T191M and absence of I278T or G307S

L. Vilarinho, D. Grinberg, S. Balcells, 2003, Human mutation.

Functional assays testing pathogenicity of 14 cystathionine‐beta synthase mutations

D. Grinberg, S. Balcells, M. Vilaseca, 2006, Human mutation.

Large-Scale Evidence for the Effect of the COLIA1 Sp1 Polymorphism on Osteoporosis Outcomes: The GENOMOS Study

A. Uitterlinden, J. V. van Meurs, J. Ioannidis, 2006, PLoS medicine.

Autosomal recessive retinitis pigmentosa in Spain : Evaluation of 4 genes and 2 loci involved in the disease

M. Bayés, M. Baiget, D. Grinberg, 2012 .

Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families

M. Bayés, M. Baiget, D. Grinberg, 1995, Human Genetics.

GENETIC MAPPING AND EVALUATION OF PDE6A IN 49 SPANISH FAMILIES WITH AUTOSOMAL RECESSIVE RETINITIS PIGMENTOSA

S. Balcells, A. Martinez-Mir, R. Gonzàlez-Duarte, 1999 .

Strategies for the Genetic Analysis of Autosomal Recessive Retinitis Pigmentosa in Spanish Families

M. Bayés, M. Baiget, D. Grinberg, 1997 .

Autosomal recessive retinitis pigmentosa in Spain: evaluation of four genes and two loci involved in the disease

M. Bayés, M. Baiget, D. Grinberg, 1996, Clinical genetics.

Homozygous tandem duplication within the gene encoding the β‐subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa

M. Bayés, S. Amselem, M. Baiget, 1995 .

Linkage disequilibrium detected between myotonic dystrophy and the anonymous marker D19S63 in the Spanish population

M. Baiget, D. Grinberg, S. Balcells, 1992, Human Genetics.

Homocysteine and the MTHFR 677C→T allele in premature coronary artery disease. Case control and family studies

J. Ordovás, D. Grinberg, S. Balcells, 2001, European journal of clinical investigation.

Identification of a novel R552Q mutation in exon 13 of the β‐subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa

M. Baiget, D. Grinberg, S. Balcells, 1996 .

A novel nonsense mutation of the EXT1 gene in an Argentinian patient with multiple hereditary exostoses: a case report.

D. Grinberg, S. Balcells, R. Dodelson de Kremer, 2012, The Journal of bone and joint surgery. American volume.

A folate-rich diet is as effective as folic acid from supplements in decreasing plasma homocysteine concentrations

R. Artuch, D. Grinberg, S. Balcells, 2005, International journal of medical sciences.

Two successful pregnancies in pyridoxine-nonresponsive homocystinuria

D. Grinberg, S. Balcells, M. Vilaseca, 2004, Journal of Inherited Metabolic Disease.

Polymorphisms of genes involved in homocysteine metabolism in preeclampsia and in uncomplicated pregnancies.

D. Grinberg, S. Balcells, M. Vilaseca, 2005, European Journal of Obstetrics, Gynecology, and Reproductive Biology.

A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes

J. Opitz, B. Cormand, J. Hecht, 2017, Scientific Reports.

Polymorphisms and haplotypes across the osteoprotegerin gene associated with bone mineral density and osteoporotic fractures

A. Díez-Pérez, X. Nogués, R. Carreras, 2010, Osteoporosis International.

A new SNP in a negative regulatory region of the CYP19A1 gene is associated with lumbar spine BMD in postmenopausal women.

A. Díez-Pérez, A. Enjuanes, M. Bustamante, 2006, Bone.

The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring‐Opitz Syndrome

R. Rabionet, D. Grinberg, S. Balcells, 2018, Clinical case reports.

COL1A1 haplotypes and hip fracture

A. Díez-Pérez, S. Civit, J. Riancho, 2012, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

A Haplotype‐Based Analysis of the LRP5 Gene in Relation to Osteoporosis Phenotypes in Spanish Postmenopausal Women

A. Díez-Pérez, M. Bustamante, X. Nogués, 2008, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Functional Characterization of a GGPPS Variant Identified in Atypical Femoral Fracture Patients and Delineation of the Role of GGPPS in Bone‐Relevant Cell Types

J. Abril, A. Díez-Pérez, R. Baron, 2018, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33.

M. Bayés, M. Baiget, D. Grinberg, 1998, Journal of medical genetics.

A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2 q 31-q 33 Monica Bayes

M. Baiget, D. Grinberg, S. Balcells, 2022 .

Genome-wide association studies (GWAS) vs functional validation: the challenge of the post-GWAS era

R. Rabionet, D. Grinberg, S. Balcells, 2023, Revista de Osteoporosis y Metabolismo Mineral.

Analysis of Three Functional Polymorphisms in Relation to Osteoporosis Phenotypes: Replication in a Spanish Cohort

A. Díez-Pérez, M. Bustamante, X. Nogués, 2010, Calcified Tissue International.

Neuronopathic and non-neuronopathic presentation of Gaucher disease in patients with the third most common mutation (D409H) in Spain

B. Cormand, D. Grinberg, S. Balcells, 1996, Journal of Inherited Metabolic Disease.

A novel mutation in exon 17 of the β-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family

M. Bayés, M. Baiget, D. Grinberg, 2004, Human Genetics.