Literature DB >> 10204861

First putative sequence alterations in the minimal CFTR promoter region.

M C Romey, C Guittard, S Carles, J Demaille, M Claustres, M Ramsay.   

Abstract

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Year:  1999        PMID： 10204861      PMCID： PMC1734325     

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


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  7 in total

1.  Functional analysis of a promoter variant identified in the CFTR gene in cis of a frameshift mutation.

Authors:  Victoria Viart; Marie Des Georges; Mireille Claustres; Magali Taulan
Journal:  Eur J Hum Genet       Date:  2011-08-17       Impact factor: 4.246

Review 2.  Novel molecular approaches to cystic fibrosis gene therapy.

Authors:  Tim W R Lee; David A Matthews; G Eric Blair
Journal:  Biochem J       Date:  2005-04-01       Impact factor: 3.857

Review 3.  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

Review 4.  The cystic fibrosis gene: a molecular genetic perspective.

Authors:  Lap-Chee Tsui; Ruslan Dorfman
Journal:  Cold Spring Harb Perspect Med       Date:  2013-02-01       Impact factor: 6.915

5.  WGA allows the molecular characterization of a novel large CFTR rearrangement in a black South African cystic fibrosis patient.

Authors:  Marie des Georges; Caroline Guittard; Carine Templin; Jean-Pierre Altiéri; Candice de Carvalho; Michele Ramsay; Mireille Claustres
Journal:  J Mol Diagn       Date:  2008-10-02       Impact factor: 5.568

6.  Screening for Regulatory Variants in 460 kb Encompassing the CFTR Locus in Cystic Fibrosis Patients.

Authors:  Jenny L Kerschner; Sujana Ghosh; Alekh Paranjapye; Wilmel R Cosme; Marie-Pierre Audrézet; Miyuki Nakakuki; Hiroshi Ishiguro; Claude Férec; Johanna Rommens; Ann Harris
Journal:  J Mol Diagn       Date:  2018-10-05       Impact factor: 5.568

7.  Binding of serum response factor to cystic fibrosis transmembrane conductance regulator CArG-like elements, as a new potential CFTR transcriptional regulation pathway.

Authors:  Céline René; Magali Taulan; Florence Iral; Julien Doudement; Aurore L'Honoré; Catherine Gerbon; Jacques Demaille; Mireille Claustres; Marie-Catherine Romey
Journal:  Nucleic Acids Res       Date:  2005-09-16       Impact factor: 16.971
  7 in total

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