Lista de obras - Susana Balcells - Dominio Público Uruguay

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

article

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

artículo científico publicado en 2018

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

scientific article published on 10 March 2017

A Haplotype-Based Analysis of theLRP5Gene in Relation to Osteoporosis Phenotypes in Spanish Postmenopausal Women

article

A Novel Nonsense Mutation of the EXT1 Gene in an Argentinian Patient with Multiple Hereditary Exostoses

article

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

artículo científico publicado en 2014

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

artículo científico publicado en 2005

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

artículo científico publicado en 2005

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

artículo científico publicado en 1997

Analyses of RANK and RANKL in the post-GWAS context: functional evidence of vitamin D stimulation through a RANKL distal region.

artículo científico publicado en 2013

Analysis of ABCA4 in mixed Spanish families segregating different retinal dystrophies.

artículo científico publicado en 2002

Analysis of three functional polymorphisms in relation to osteoporosis phenotypes: replication in a Spanish cohort.

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

article

Bone Mass of a 113-Year-Old Man

artículo científico publicado en 2007

Bone development and remodeling in metabolic disorders

artículo científico publicado en 2019

COL1A1 haplotypes and hip fracture.

artículo científico publicado en 2012

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

article

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

artículo científico publicado en 2015

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

artículo científico publicado en 2019

Changes in the stool and oropharyngeal microbiome in obsessive-compulsive disorder

artículo científico publicado en 2022

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

artículo científico publicado en 2018

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

artículo científico publicado en 2006

Description of extreme longevity in the Balearic Islands: Exploring a potential Blue Zone in Menorca, Spain

artículo científico publicado en 2013

Differential stimulation of sea urchin early and late H2B histone gene expression by a gastrula nuclear extract after injection into Xenopus laevis oocytes ⬇️

artículo científico publicado el 1 de marzo de 1988

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

artículo científico

Effect of IL-1beta, PGE(2), and TGF-beta1 on the expression of OPG and RANKL in normal and osteoporotic primary human osteoblasts.

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

scientific article published on 01 April 2007

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

article

Expression profiling of microRNAs in human bone tissue from postmenopausal women.

artículo científico publicado en 2017

Frequency of the arylsulphatase A pseudodeficiency allele in the Spanish population

article

Functional Assessment of Coding and Regulatory Variants From the <i>DKK1</i> Locus

artículo científico publicado en 2020

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

artículo científico publicado en 2018

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.

artículo científico publicado en 2005

Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations

artículo científico publicado en 2006

Functional characterization of the C7ORF76 genomic region, a prominent GWAS signal for osteoporosis in 7q21.3.

artículo científico publicado en 2019

GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates.

artículo científico publicado en 2017

Gaucher disease in Spanish patients: Analysis of eight mutations

article

Genetic analysis of high bone mass cases from the BARCOS cohort of Spanish postmenopausal women

artículo científico publicado en 2014

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

artículo científico publicado en 2013

Genetic fine localization of the arrestin (S-antigen) gene 4 cM distal from D2S172

article

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

artículo científico publicado en 2012

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

artículo científico publicado en 2006

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

artículo científico publicado en 2006

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

artículo científico publicado en 2001

Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa.

artículo científico publicado en 1995

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

artículo científico publicado en 2011

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

artículo científico publicado en 2005

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

artículo científico publicado en 2008

Large-scale evidence for the effect of the COLIA1 Sp1 polymorphism on osteoporosis outcomes: the GENOMOS study

artículo científico publicado en 2006

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

artículo científico publicado en 1992

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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

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

article

Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa

article

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

artículo científico publicado en 2002

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

artículo científico publicado en 2009

Polymorphisms in the interleukin-6 receptor gene are associated with bone mineral density and body mass index in Spanish postmenopausal women

article

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

artículo científico publicado en 2005

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

artículo científico publicado en 2018

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

article

Putative association of a mutant ROM1 allele with retinitis pigmentosa

artículo científico publicado en 1997

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

scientific journal article

Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.

artículo científico publicado en 2015

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

artículo científico publicado en 2007

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

artículo científico publicado en 2003

Spectrum ofABCA4(ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies

artículo científico publicado en 2001

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

artículo científico publicado en 2002

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

artículo científico publicado en 2018

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

artículo científico publicado en 2006

Two new single-nucleotide polymorphisms in the COL1A1 upstream regulatory region and their relationship to bone mineral density.

artículo científico publicado en 2002

Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher's disease patients

scientific article published on 01 January 1996

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

artículo científico publicado en 1995

[Clinical and molecular study in a family with multiple osteochondromatosis]

artículo científico publicado en 2018

[Double mutant alleles in the EXT1 gene not previously reported in a teenager with hereditary multiple exostoses]

artículo científico publicado en 2015

Lista de obras de Susana Balcells

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

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

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

A Haplotype-Based Analysis of theLRP5Gene in Relation to Osteoporosis Phenotypes in Spanish Postmenopausal Women

A Novel Nonsense Mutation of the EXT1 Gene in an Argentinian Patient with Multiple Hereditary Exostoses

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

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

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

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

Analyses of RANK and RANKL in the post-GWAS context: functional evidence of vitamin D stimulation through a RANKL distal region.

Analysis of ABCA4 in mixed Spanish families segregating different retinal dystrophies.

Analysis of three functional polymorphisms in relation to osteoporosis phenotypes: replication in a Spanish cohort.

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

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

Bone Mass of a 113-Year-Old Man

Bone development and remodeling in metabolic disorders

COL1A1 haplotypes and hip fracture.

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

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

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

Changes in the stool and oropharyngeal microbiome in obsessive-compulsive disorder

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

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

Differential stimulation of sea urchin early and late H2B histone gene expression by a gastrula nuclear extract after injection into Xenopus laevis oocytes ⬇️

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

Effect of IL-1beta, PGE(2), and TGF-beta1 on the expression of OPG and RANKL in normal and osteoporotic primary human osteoblasts.

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

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

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

Expression profiling of microRNAs in human bone tissue from postmenopausal women.

Frequency of the arylsulphatase A pseudodeficiency allele in the Spanish population

Functional Assessment of Coding and Regulatory Variants From the <i>DKK1</i> Locus

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

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.

Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations

Functional characterization of the C7ORF76 genomic region, a prominent GWAS signal for osteoporosis in 7q21.3.

GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates.

Gaucher disease in Spanish patients: Analysis of eight mutations

Genetic analysis of high bone mass cases from the BARCOS cohort of Spanish postmenopausal women

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

Genetic fine localization of the arrestin (S-antigen) gene 4 cM distal from D2S172

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

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

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

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

Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa.

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

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

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

Large-scale evidence for the effect of the COLIA1 Sp1 polymorphism on osteoporosis outcomes: the GENOMOS study

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

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

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

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

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

Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa

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

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

Polymorphisms in the interleukin-6 receptor gene are associated with bone mineral density and body mass index in Spanish postmenopausal women

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

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

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

Putative association of a mutant ROM1 allele with retinitis pigmentosa

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

Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.

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

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

Spectrum ofABCA4(ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies

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

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

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

Two new single-nucleotide polymorphisms in the COL1A1 upstream regulatory region and their relationship to bone mineral density.

Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher's disease patients

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

[Clinical and molecular study in a family with multiple osteochondromatosis]

[Double mutant alleles in the EXT1 gene not previously reported in a teenager with hereditary multiple exostoses]