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Showing 1–9 of 9 results

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24 November 2004
Novel length variant of the polypyrimidine tract within the splice acceptor site in intron 8 of the CFTR gene: consequences for genetic testing using standard assays
European Journal of Human Genetics 13 , 136–138

Rights & permissionsfor article Novel length variant of the polypyrimidine tract within the splice acceptor site in intron 8 of the CFTR gene: consequences for genetic testing using standard assays . Opens in a new window.
Research | 10 November 2004
A large-scale study of the random variability of a coding sequence: a study on the CFTR gene
European Journal of Human Genetics 13 , 184–192

Rights & permissionsfor article A large-scale study of the random variability of a coding sequence: a study on the CFTR gene . Opens in a new window.
13 May 2009
A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements
European Journal of Human Genetics 17 , 1683–1687

Rights & permissionsfor article A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements . Opens in a new window.
Research | 18 August 2010
p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study
- Céline René
- , Damien Paulet
- , Emmanuelle Girodon
- , Catherine Costa
- , Guy Lalau
- , Julie Leclerc
- , Faïza Cabet-Bey
- , Thierry Bienvenu
- , Martine Blayau
- , Albert Iron
- , Hervé Mittre
- , Delphine Feldmann
- , Caroline Guittard
- , Mireille Claustres
- & Marie des Georges
European Journal of Human Genetics 19 , 36–42

Rights & permissionsfor article p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study . Opens in a new window.
Research | 17 August 2011
Functional analysis of a promoter variant identified in the CFTR gene in cis of a frameshift mutation
European Journal of Human Genetics 20 , 180–184

Rights & permissionsfor article Functional analysis of a promoter variant identified in the CFTR gene in cis of a frameshift mutation . Opens in a new window.
Research | 26 October 2005
Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations
- Fiorenza Pompei
- , Bianca Maria Ciminelli
- , Cristina Bombieri
- , Cinzia Ciccacci
- , Monika Koudova
- , Silvia Giorgi
- , Francesca Belpinati
- , Angela Begnini
- , Milos Cerny
- , Marie Des Georges
- , Mireille Claustres
- , Claude Ferec
- , Milan Macek Jr
- , Guido Modiano
- & Pier Franco Pignatti
European Journal of Human Genetics 14 , 85–93

Rights & permissionsfor article Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations . Opens in a new window.
8 January 2015
Small-scale high-throughput sequencing–based identification of new therapeutic tools in cystic fibrosis
Genetics in Medicine 17 , 796–806

Rights & permissionsfor article Small-scale high-throughput sequencing–based identification of new therapeutic tools in cystic fibrosis . Opens in a new window.
Reviews | 27 May 2015 | Open
The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus
- Anne Girardet
- , Victoria Viart
- , Stéphanie Plaza
- , Gemma Daina
- , Martine De Rycke
- , Marie Des Georges
- , Francesco Fiorentino
- , Gary Harton
- , Aliya Ishmukhametova
- , Joaquima Navarro
- , Caroline Raynal
- , Pamela Renwick
- , Florielle Saguet
- , Martin Schwarz
- , Sioban SenGupta
- , Maria Tzetis
- , Anne-Françoise Roux
- & Mireille Claustres
European Journal of Human Genetics 24 , 469–478

Rights & permissionsfor article The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus . Opens in a new window.
Research | 6 August 2008
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations
- 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
European Journal of Human Genetics 17 , 51–65

Rights & permissionsfor article Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations . Opens in a new window.

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