Literature DB >> 10973878

Prenatal detection by real-time quantitative PCR and characterization of a new CFTR deletion, 3600+15kbdel5.3kb (or CFTRdele19).

B Costes1, E Girodon, D Vidaud, E Flori, A Ardalan, P Conteville, P Fanen, F Niel, M Vidaud, M Goossens.   

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Year:  2000        PMID： 10973878

Source DB:  PubMed          Journal:  Clin Chem        ISSN： 0009-9147            Impact factor:   8.327


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  9 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.  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

4.  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

5.  Identification of the second CFTR mutation in patients with congenital bilateral absence of vas deferens undergoing ART protocols.

Authors:  Rossella Giuliani; Ivana Antonucci; Isabella Torrente; Paola Grammatico; Giandomenico Palka; Liborio Stuppia
Journal:  Asian J Androl       Date:  2010-07-26       Impact factor: 3.285

6.  A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements.

Authors:  Magali Taulan; Caroline Guittard; Corinne Theze; Mireille Claustres; Marie des Georges
Journal:  Eur J Hum Genet       Date:  2009-05-13       Impact factor: 4.246

7.  Characterization of a recurrent novel large duplication in the cystic fibrosis transmembrane conductance regulator gene.

Authors:  Feras M Hantash; Joy B Redman; Dana Goos; Anja Kammesheidt; Matthew J McGinniss; Weimin Sun; Charles M Strom
Journal:  J Mol Diagn       Date:  2007-08-09       Impact factor: 5.568

8.  Applicability and Efficiency of NGS in Routine Diagnosis: In-Depth Performance Analysis of a Complete Workflow for CFTR Mutation Analysis.

Authors:  Adrien Pagin; Aurore Devos; Martin Figeac; Maryse Truant; Christelle Willoquaux; Franck Broly; Guy Lalau
Journal:  PLoS One       Date:  2016-02-22       Impact factor: 3.240

9.  Large genomic rearrangements in the CFTR gene contribute to CBAVD.

Authors:  Magali Taulan; Anne Girardet; Caroline Guittard; Jean-Pierre Altieri; Carine Templin; Christophe Beroud; Marie des Georges; Mireille Claustres
Journal:  BMC Med Genet       Date:  2007-04-20       Impact factor: 2.103
  9 in total

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