List of works - Roser Urreizti

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.

scientific article published on 12 January 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 broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG

scientific article

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

scientific article published in December 2013

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

scientific article published in July 2010

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

scientific article (publication date: October 2012)

COL1A1 haplotypes and hip fracture.

scientific article published in April 2012

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

scientific article published on 01 February 2019

Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients

scientific article published on 01 January 2020

DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients

scientific article published on 15 March 2019

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

scientific article published in May 2010

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

scientific article published on 23 May 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

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

scientific article published on 10 February 2020

Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations

scientific article published on 01 February 2006

GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates.

scientific article published in May 2017

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

scientific article

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

scientific article

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

scientific article published in March 2006

Hyperhomocysteinemia in children with renal transplants

scientific article published on 11 June 2002

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

scientific article published on 7 June 2011

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

scientific article published on 07 May 2021

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

scientific article published on 10 November 2015

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

scientific article published in November 2010

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

scientific article published on January 2013

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

scientific article published on 13 May 2009

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

scientific article published in May 2005

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

scientific article published on 7 October 2015

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

scientific article

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

scientific article published on 10 June 2018

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

scientific article

List of works by Roser Urreizti

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

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

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

COL1A1 haplotypes and hip fracture.

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

Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients

DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients

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

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations

GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates.

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

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

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

Hyperhomocysteinemia in children with renal transplants

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

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

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.

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

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

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

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

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.