Nathalie Pallarès-Ruiz
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View article: Combined Mutation And Rearrangement Screening by Quantitative PCR High-Resolution Melting: Is It Relevant for Hereditary Recurrent Fever Genes?
Combined Mutation And Rearrangement Screening by Quantitative PCR High-Resolution Melting: Is It Relevant for Hereditary Recurrent Fever Genes? Open
The recent identification of genes implicated in hereditary recurrent fevers has allowed their specific diagnosis. So far however, only punctual mutations have been identified and a significant number of patients remain with no genetic con…
View article: Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains
Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains Open
In six index cases/families referred for Marfan syndrome (MFS) molecular diagnosis, we identified six novel mutations in the FBN1 gene: c.1753G>C (p.Gly585Arg), c.2456G>A (p.Gly819Glu), c.4981G>A (p.Gly1661Arg), c.5339G>A (p.Gly1780Glu), c…
View article: GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study
GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study Open
View article: First molecular screening of deafness in the Altai Republic population
First molecular screening of deafness in the Altai Republic population Open
We found an Asian-specific GJB2 diversity among Altaians, and different GJB2 contribution for deafness in the Altaian and Russian patients. The high carrier frequency of 235delC in Altaians (4.6%) is probably defined by gene drift/founder …
View article: Molecular epidemiology of DFNB1 deafness in France
Molecular epidemiology of DFNB1 deafness in France Open
View article: A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?
A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect? Open
View article: A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals
A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals Open
View article: A Naturally Occurring Sequence Variation That Creates a YY1 Element Is Associated with Increased Cystic Fibrosis Transmembrane Conductance Regulator Gene Expression
A Naturally Occurring Sequence Variation That Creates a YY1 Element Is Associated with Increased Cystic Fibrosis Transmembrane Conductance Regulator Gene Expression Open
We have identified previously a novel complex mutant allele in the cystic fibrosis transmembrane conductance regulator (CFTR) gene in a patient affected with cystic fibrosis (CF). This allele contained a mutation in CFTR exon 11 known to c…
View article: Is isolated idiopathic pancreatitis associated with CFTR mutations?
Is isolated idiopathic pancreatitis associated with CFTR mutations? Open
Editor,—In one of two recently published studies which looked at a link between mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene and idiopathic pancreatitis,1 2 Cohn et al estimated that 37% of a cohort of 2…
View article: Complete mutational screening of the cystic fibrosis transmembrane conductance regulator gene: cystic fibrosis mutations are not involved in healthy men with reduced sperm quality
Complete mutational screening of the cystic fibrosis transmembrane conductance regulator gene: cystic fibrosis mutations are not involved in healthy men with reduced sperm quality Open
Based on the analysis of the most frequent mutations responsible for cystic fibrosis (CF), a higher than expected frequency of CF mutations was recently reported in men with infertility due to reduced sperm quality. To further document whe…