about
Large-scale evidence for the effect of the COLIA1 Sp1 polymorphism on osteoporosis outcomes: the GENOMOS study.ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteinsA folate-rich diet is as effective as folic acid from supplements in decreasing plasma homocysteine concentrations.Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCRA new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21Assessment of gene-by-sex interaction effect on bone mineral densityHomocysteine and the MTHFR 677C-->T allele in premature coronary artery disease. Case control and family studies.Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDGGenome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.Genetic analysis of high bone mass cases from the BARCOS cohort of Spanish postmenopausal womenLarge-scale analysis of association between LRP5 and LRP6 variants and osteoporosisMiRNA profiling of whole trabecular bone: identification of osteoporosis-related changes in MiRNAs in human hip bones.Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas.A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.Two new single-nucleotide polymorphisms in the COL1A1 upstream regulatory region and their relationship to bone mineral density.In vitro functional assay of alleles and haplotypes of two COL1A1-promoter SNPs.Discrepancy between bone density and bone material strength index in three siblings with Camurati-Engelmann disease.Simvastatin and atorvastatin enhance gene expression of collagen type 1 and osteocalcin in primary human osteoblasts and MG-63 cultures.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.CYP11A1 expression in bone is associated with aromatase inhibitor-related bone loss.Erratum to: MiRNA profiling of whole trabecular bone: identification of osteoporosis-related changes in MiRNAs in human hip bones.The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe.Expression profiling of microRNAs in human bone tissue from postmenopausal women.Analysis of three functional polymorphisms in relation to osteoporosis phenotypes: replication in a Spanish cohort.Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency.Effect of IL-1beta, PGE(2), and TGF-beta1 on the expression of OPG and RANKL in normal and osteoporotic primary human osteoblasts.Linkage disequilibrium detected between myotonic dystrophy and the anonymous marker D19S63 in the Spanish population.Analysis of ABCA4 in mixed Spanish families segregating different retinal dystrophies.Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S.Correction: Large-Scale Evidence for the Effect of the COLIA1 Sp1 Polymorphism on Osteoporosis Outcomes: The GENOMOS Study.Description of extreme longevity in the Balearic Islands: Exploring a potential Blue Zone in Menorca, Spain.Polymorphisms of genes involved in homocysteine metabolism in preeclampsia and in uncomplicated pregnancies.Genetic determinants of aromatase inhibitor-related arthralgia: the B-ABLE cohort study.A new SNP in a negative regulatory region of the CYP19A1 gene is associated with lumbar spine BMD in postmenopausal women.High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia.Polymorphisms and haplotypes across the osteoprotegerin gene associated with bone mineral density and osteoporotic fractures.Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa.A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome.
P50
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P50
description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Susana Balcells
@ast
Susana Balcells
@en
Susana Balcells
@es
Susana Balcells
@nl
Susana Balcells
@sl
type
label
Susana Balcells
@ast
Susana Balcells
@en
Susana Balcells
@es
Susana Balcells
@nl
Susana Balcells
@sl
prefLabel
Susana Balcells
@ast
Susana Balcells
@en
Susana Balcells
@es
Susana Balcells
@nl
Susana Balcells
@sl
P1053
C-5222-2017
P106
P21
P31
P3829
P496
0000-0003-1211-1907