Lista de obras -

Abnormalities in early markers of muscle involvement support a delay in myogenesis in spinal muscular atrophy.

artículo científico publicado en 2014

Accuracy of marker analysis, quantitative real-time polymerase chain reaction, and multiple ligation-dependent probe amplification to determine SMN2 copy number in patients with spinal muscular atrophy.

artículo científico publicado en 2011

Analysis of the C9orf72 gene in spinal muscular atrophy patients.

artículo científico publicado en 2014

Choroidal neovascularization associated with goldmann-favre syndrome

scientific article published on 01 January 2007

Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype--phenotype correlation.

artículo científico publicado en 2005

Copy-Number Variations inEYS:A Significant Event in the Appearance of arRP ⬇️

artículo científico publicado el 29 de julio de 2011

Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases

artículo científico publicado en 2018

Decay in survival motor neuron and plastin 3 levels during differentiation of iPSC-derived human motor neurons.

artículo científico publicado en 2015

Evaluation of RLBP1 in 50 autosomal recessive retinitis pigmentosa and 4 retinitis punctata albescens Spanish families.

artículo científico publicado en 2001

Evaluation of fetal nuchal translucency in 98 pregnancies at risk for severe spinal muscular atrophy: possible relevance of the SMN2 copy number ⬇️

artículo científico publicado el 30 de noviembre de 2011

Genotype-phenotype correlation of SMN locus genes in spinal muscular atrophy children from Argentina.

artículo científico publicado en 2016

High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population ⬇️

artículo científico publicado el 5 de febrero de 2013

Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 gene.

artículo científico publicado en 2013

Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.

artículo científico publicado en 2009

Molecular scanning of the ABCA4 gene in Spanish patients with retinitis pigmentosa and Stargardt disease: identification of novel mutations.

artículo científico publicado en 2007

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.

artículo científico publicado en 2008

Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations

artículo científico publicado en 2011

Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation

artículo científico publicado en 2003

NHEJ-Mediated Repair of CRISPR-Cas9-Induced DNA Breaks Efficiently Corrects Mutations in HSPCs from Patients with Fanconi Anemia

scientific article published on 19 September 2019

Next-generation sequencing reveals a new mutation in the LTBP2 gene associated with microspherophakia in a Spanish family.

artículo científico publicado en 2018

Novel mutations in the USH1C gene in Usher syndrome patients.

artículo científico publicado en 2010

Role of IL6R Genetic Variants in Predicting Response to Tocilizumab in Patients with Rheumatoid Arthritis

artículo científico publicado en 2022

Salbutamol tolerability and efficacy in patients with spinal muscular atrophy type II

artículo científico publicado en 2019

Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa

artículo científico publicado en 2003

The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor

artículo científico publicado en 2010

The developmental pattern of myotubes in spinal muscular atrophy indicates prenatal delay of muscle maturation.

artículo científico publicado en 2009

Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter- and intra-patient variability.

artículo científico publicado en 2011

Ultrasound evaluation of fetal movements in pregnancies at risk for severe spinal muscular atrophy

scientific article published on 30 December 2010

Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling

artículo científico publicado en 2018

Lista de obras de

Abnormalities in early markers of muscle involvement support a delay in myogenesis in spinal muscular atrophy.

Accuracy of marker analysis, quantitative real-time polymerase chain reaction, and multiple ligation-dependent probe amplification to determine SMN2 copy number in patients with spinal muscular atrophy.

Analysis of the C9orf72 gene in spinal muscular atrophy patients.

Choroidal neovascularization associated with goldmann-favre syndrome

Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype--phenotype correlation.

Copy-Number Variations inEYS:A Significant Event in the Appearance of arRP ⬇️

Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases

Decay in survival motor neuron and plastin 3 levels during differentiation of iPSC-derived human motor neurons.

Evaluation of RLBP1 in 50 autosomal recessive retinitis pigmentosa and 4 retinitis punctata albescens Spanish families.

Evaluation of fetal nuchal translucency in 98 pregnancies at risk for severe spinal muscular atrophy: possible relevance of the SMN2 copy number ⬇️

Genotype-phenotype correlation of SMN locus genes in spinal muscular atrophy children from Argentina.

High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population ⬇️

Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 gene.

Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.

Molecular scanning of the ABCA4 gene in Spanish patients with retinitis pigmentosa and Stargardt disease: identification of novel mutations.

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.

Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations

Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation

NHEJ-Mediated Repair of CRISPR-Cas9-Induced DNA Breaks Efficiently Corrects Mutations in HSPCs from Patients with Fanconi Anemia

Next-generation sequencing reveals a new mutation in the LTBP2 gene associated with microspherophakia in a Spanish family.

Novel mutations in the USH1C gene in Usher syndrome patients.

Role of IL6R Genetic Variants in Predicting Response to Tocilizumab in Patients with Rheumatoid Arthritis

Salbutamol tolerability and efficacy in patients with spinal muscular atrophy type II

Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa

The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor

The developmental pattern of myotubes in spinal muscular atrophy indicates prenatal delay of muscle maturation.

Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter- and intra-patient variability.

Ultrasound evaluation of fetal movements in pregnancies at risk for severe spinal muscular atrophy

Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling