Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

Mireille Claustres, Caroline Guittard, Dominique Bozon, +22

Human Mutation

Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign

Joshua D. Groman, Timothy Hefferon, Teresa Casals, +24

The American Journal of Human Genetics

Molecular Diagnostic TechniquesMolecular PhysiologyDisease MechanismGenetic DisorderMedicine +8

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

Manfred Stuhrmann, Michael A. Morris, Teresa Casals, +11

European Journal of Human Genetics

Genetic DiseasesMedicineGeneticsDiagnosisMolecular Genetic Diagnosis +6

Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease

Abul Kalam Azad, R. D. Rauh, F. Vermeulen, +25

Human Mutation

EngineeringGeneticsGenetic EpidemiologyPathologyMolecular Genetics +15

<i>CFTR</i>-France, a national relational patient database for sharing genetic and phenotypic data associated with rare<i>CFTR</i>variants

Mireille Claustres, C. Thèze, Marie des Georges, +22

Human Mutation

GeneticsDatabasesGenetic EpidemiologyPathologyDisease Gene Identification +20

Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations ?

Mireille Claustres, Jean-Pierre Altiéri, Caroline Guittard, +3

BMC Medical Genetics

Large genomic rearrangements in the CFTRgene contribute to CBAVD

Magali Taulan‐Cadars, Anne Girardet, Caroline Guittard, +5

BMC Medical Genetics

Complete mutational screening of the cystic fibrosis transmembrane conductance regulator gene: cystic fibrosis mutations are not involved in healthy men with reduced sperm quality

Nathalie Pallarès-Ruiz, Soukeyna Carles, Marie des Georges, +4

Human Reproduction

GeneticsGenetic EpidemiologyPathologyMolecular GeneticsDisease Gene Identification +16

ANCA-Negative Pauci-immune Necrotizing Glomerulonephritis: A Case Series and a New Clinical Classification

Charles Ronsin, Marie des Georges, Agnès Chapelet-Debout, +20

American Journal of Kidney Diseases

Glomerular DiseaseNew Clinical ClassificationVasculitisImmunologyPathology +14

Comprehensive and Rapid Genotyping of Mutations and Haplotypes in Congenital Bilateral Absence of the Vas Deferens and Other Cystic Fibrosis Transmembrane Conductance Regulator-Related Disorders

Corinne Bareil, Caroline Guittard, Jean-Pierre Altiéri, +3

Journal of Molecular Diagnostics

Developmental BiologyMendelian DisorderGenetic DisorderGeneticsClinical Genetics +8