Lista de obras - Solena Le Scouarnec - Dominio Público Uruguay

0186 : Genotype/phenotype relationship in a large cohort of long QT syndrome patients

0224 : Mental stress unmasked new phenotype of sudden cardiac death related to adrenalin dependent prolongation of the QT interval

Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes

artículo científico publicado en 2007

DoEstRare: A statistical test to identify local enrichments in rare genomic variants associated with disease

artículo científico publicado en 2017

Dysfunction in ankyrin-B-dependent ion channel and transporter targeting causes human sinus node disease

artículo científico publicado en 2008

Dysfunction of the Voltage-Gated K+ Channel β2 Subunit in a Familial Case of Brugada Syndrome

scientific article published on 10 June 2016

Exon organization and novel alternative splicing of the human ANK2 gene: implications for cardiac function and human cardiac disease

artículo científico publicado en 2008

Fine-scale human genetic structure in Western France

artículo científico publicado en 2014

Genetic association analyses highlight IL6, ALPL, and NAV1 as three new susceptibility genes underlying calcific aortic valve stenosis

article

Genetics of syndromic and non-syndromic mitral valve prolapse

artículo científico publicado en 2018

HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy

artículo científico publicado en 2014

Identification of large families in early repolarization syndrome

artículo científico publicado en 2013

Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia

artículo científico publicado en 2016

Knime4Bio: a set of custom nodes for the interpretation of next-generation sequencing data with KNIME.

artículo científico publicado en 2011

Myotonic dystrophy type 1 mimics and exacerbates Brugada phenotype induced by Nav1.5 sodium channel loss-of-function mutation

artículo científico publicado en 2014

SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome

artículo científico publicado en 2009

Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans

artículo científico publicado en 2008

Sudden cardiac arrest associated with early repolarization

artículo científico publicado en 2008

Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I

article

Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome

article

The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex Inheritance

artículo científico publicado en 2016

Variable Na(v)1.5 protein expression from the wild-type allele correlates with the penetrance of cardiac conduction disease in the Scn5a(+/-) mouse model

artículo científico publicado en 2010

aCGH.Spline--an R package for aCGH dye bias normalization

artículo científico publicado en 2011

Lista de obras de Solena Le Scouarnec

0186 : Genotype/phenotype relationship in a large cohort of long QT syndrome patients

0224 : Mental stress unmasked new phenotype of sudden cardiac death related to adrenalin dependent prolongation of the QT interval

Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes

DoEstRare: A statistical test to identify local enrichments in rare genomic variants associated with disease

Dysfunction in ankyrin-B-dependent ion channel and transporter targeting causes human sinus node disease

Dysfunction of the Voltage-Gated K+ Channel β2 Subunit in a Familial Case of Brugada Syndrome

Exon organization and novel alternative splicing of the human ANK2 gene: implications for cardiac function and human cardiac disease

Fine-scale human genetic structure in Western France

Genetic association analyses highlight IL6, ALPL, and NAV1 as three new susceptibility genes underlying calcific aortic valve stenosis

Genetics of syndromic and non-syndromic mitral valve prolapse

HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy

Identification of large families in early repolarization syndrome

Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia

Knime4Bio: a set of custom nodes for the interpretation of next-generation sequencing data with KNIME.

Myotonic dystrophy type 1 mimics and exacerbates Brugada phenotype induced by Nav1.5 sodium channel loss-of-function mutation

SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome

Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans

Sudden cardiac arrest associated with early repolarization

Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I

Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome

The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex Inheritance

Variable Na(v)1.5 protein expression from the wild-type allele correlates with the penetrance of cardiac conduction disease in the Scn5a(+/-) mouse model

aCGH.Spline--an R package for aCGH dye bias normalization