Lista de obras -

A T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD).

artículo científico publicado en 2005

A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene

artículo científico

A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria

artículo científico publicado en 2016

An exon skipping-associated nonsense mutation in the dystrophin gene uncovers a complex interplay between multiple antagonistic splicing elements

artículo científico publicado en 2006

Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy

artículo científico publicado en 2016

Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene

artículo científico publicado en 2012

Dissecting the structure and mechanism of a complex duplication-triplication rearrangement in the DMD gene

artículo científico publicado en 2013

Erratum: Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle

artículo científico publicado en 2017

Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes

artículo científico publicado en 2010

FUBP1: a new protagonist in splicing regulation of the DMD gene

artículo científico publicado en 2015

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

artículo científico publicado en 2009

Identification of Splicing Factors Involved in DMD Exon Skipping Events Using an In Vitro RNA Binding Assay

artículo científico publicado en 2018

Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay

artículo científico publicado en 2003

Long-term follow-up of DYT1 dystonia patients treated by deep brain stimulation: an open-label study

artículo científico publicado en 2010

Mutation spectrum leading to an attenuated phenotype in dystrophinopathies

artículo científico publicado en 2005

New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination?

artículo científico publicado en 2009

Normal and altered pre-mRNA processing in the DMD gene

artículo científico publicado en 2017

Pathological pattern of Mdx mice diaphragm correlates with gradual expression of the short utrophin isoform Up71.

artículo científico publicado en 2006

Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy

artículo científico publicado en 2003

Sequence contexts that determine the pathogenicity of base substitutions at position +3 of donor splice-sites

artículo científico publicado en 2009

Small-scale high-throughput sequencing-based identification of new therapeutic tools in cystic fibrosis

artículo científico publicado en 2015

Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle

artículo científico publicado en 2017

The Human Variome Project (HVP) 2009 Forum "Towards Establishing Standards".

artículo científico publicado en 2010

The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia

artículo científico

The p.Asp216His TOR1A allele effect is not found in the French population

artículo científico publicado en 2009

Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants

artículo científico publicado en 2014

Lista de obras de

A T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD).

A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene

A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria

An exon skipping-associated nonsense mutation in the dystrophin gene uncovers a complex interplay between multiple antagonistic splicing elements

Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy

Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene

Dissecting the structure and mechanism of a complex duplication-triplication rearrangement in the DMD gene

Erratum: Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle

Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes

FUBP1: a new protagonist in splicing regulation of the DMD gene

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

Identification of Splicing Factors Involved in DMD Exon Skipping Events Using an In Vitro RNA Binding Assay

Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay

Long-term follow-up of DYT1 dystonia patients treated by deep brain stimulation: an open-label study

Mutation spectrum leading to an attenuated phenotype in dystrophinopathies

New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination?

Normal and altered pre-mRNA processing in the DMD gene

Pathological pattern of Mdx mice diaphragm correlates with gradual expression of the short utrophin isoform Up71.

Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy

Sequence contexts that determine the pathogenicity of base substitutions at position +3 of donor splice-sites

Small-scale high-throughput sequencing-based identification of new therapeutic tools in cystic fibrosis

Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle

The Human Variome Project (HVP) 2009 Forum "Towards Establishing Standards".

The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia

The p.Asp216His TOR1A allele effect is not found in the French population

Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants