Literature DB >> 15520400

Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis.

F Niel1, J Martin, F Dastot-Le Moal, B Costes, B Boissier, V Delattre, M Goossens, E Girodon.   

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Year:  2004        PMID： 15520400      PMCID： PMC1735613          DOI： 10.1136/jmg.2004.022400

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  28 in total

1.  Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies.

Authors:  Alix de Becdelièvre; Catherine Costa; Annick LeFloch; Marie Legendre; Jean-Marie Jouannic; Jacqueline Vigneron; Jean-Luc Bresson; Stéphanie Gobin; Josiane Martin; Michel Goossens; Emmanuelle Girodon
Journal:  Eur J Hum Genet       Date:  2010-05-26       Impact factor: 4.246

2.  Comprehensive description of CFTR genotypes and ultrasound patterns in 694 cases of fetal bowel anomalies: a revised strategy.

Authors:  Alix de Becdelièvre; Catherine Costa; Jean-Marie Jouannic; Annick LeFloch; Irina Giurgea; Josiane Martin; Rachel Médina; Brigitte Boissier; Christine Gameiro; Françoise Muller; Michel Goossens; Corinne Alberti; Emmanuelle Girodon
Journal:  Hum Genet       Date:  2010-12-24       Impact factor: 4.132

3.  A new insertion/deletion of the cystic fibrosis transmembrane conductance regulator gene accounts for 3.4% of cystic fibrosis mutations in Sardinia: implications for population screening.

Authors:  Valeria Faà; Pietro Pellegrini Bettoli; Maria Demurtas; Maurizio Zanda; Vincenzina Ferri; Antonio Cao; Maria Cristina Rosatelli
Journal:  J Mol Diagn       Date:  2006-09       Impact factor: 5.568

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

Authors:  Els Dequeker; Manfred Stuhrmann; Michael A Morris; Teresa Casals; Carlo Castellani; Mireille Claustres; Harry Cuppens; Marie des Georges; Claude Ferec; Milan Macek; Pier-Franco Pignatti; Hans Scheffer; Marianne Schwartz; Michal Witt; Martin Schwarz; Emmanuelle Girodon
Journal:  Eur J Hum Genet       Date:  2008-08-06       Impact factor: 4.246

5.  Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening.

Authors:  Feras M Hantash; Joy B Redman; Kelsey Starn; Ben Anderson; Arlene Buller; Matthew J McGinniss; Franklin Quan; Mei Peng; Weimin Sun; Charles M Strom
Journal:  Hum Genet       Date:  2005-12-17       Impact factor: 4.132

6.  Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis.

Authors:  Iris Schrijver; Krista Rappahahn; Lynn Pique; Martin Kharrazi; Lee-Jun Wong
Journal:  J Mol Diagn       Date:  2008-06-13       Impact factor: 5.568

7.  Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples.

Authors:  Matthew J McGinniss; Christina Chen; Joy B Redman; Arlene Buller; Franklin Quan; Mei Peng; Robert Giusti; Feras M Hantash; Donghui Huang; Weimin Sun; Charles M Strom
Journal:  Hum Genet       Date:  2005-09-28       Impact factor: 4.132

8.  Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.

Authors:  Nadege Bondurand; Florence Dastot-Le Moal; Laure Stanchina; Nathalie Collot; Viviane Baral; Sandrine Marlin; Tania Attie-Bitach; Irina Giurgea; Laurent Skopinski; William Reardon; Annick Toutain; Pierre Sarda; Anis Echaieb; Marilyn Lackmy-Port-Lis; Renaud Touraine; Jeanne Amiel; Michel Goossens; Veronique Pingault
Journal:  Am J Hum Genet       Date:  2007-10-22       Impact factor: 11.025

Review 9.  Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

Authors:  C Castellani; H Cuppens; M Macek; J J Cassiman; E Kerem; P Durie; E Tullis; B M Assael; C Bombieri; A Brown; T Casals; M Claustres; G R Cutting; E Dequeker; J Dodge; I Doull; P Farrell; C Ferec; E Girodon; M Johannesson; B Kerem; M Knowles; A Munck; P F Pignatti; D Radojkovic; P Rizzotti; M Schwarz; M Stuhrmann; M Tzetis; J Zielenski; J S Elborn
Journal:  J Cyst Fibros       Date:  2008-05       Impact factor: 5.482

10.  Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci.

Authors:  Sylvia Quemener; Jian-Min Chen; Nadia Chuzhanova; Caroline Bénech; Teresa Casals; Milan Macek; Thierry Bienvenu; Trudi McDevitt; Philip M Farrell; Ourida Loumi; Taieb Messaoud; Harry Cuppens; Garry R Cutting; Peter D Stenson; Karine Giteau; Marie-Pierre Audrézet; David N Cooper; Claude Férec
Journal:  Hum Mutat       Date:  2010-04       Impact factor: 4.878
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