CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rareCFTRvariants-Reference-Cited by-同舟云学术

CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rareCFTRvariants

Published:2017-06-28 Issue:10 Volume:38 Page:1297-1315
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Claustres Mireille¹^ORCID,Thèze Corinne¹,des Georges Marie¹,Baux David¹,Girodon Emmanuelle²,Bienvenu Thierry²^ORCID,Audrezet Marie-Pierre³,Dugueperoux Ingrid³,Férec Claude³,Lalau Guy⁴,Pagin Adrien⁴,Kitzis Alain⁵,Thoreau Vincent⁵,Gaston Véronique⁶,Bieth Eric⁶,Malinge Marie-Claire⁷,Reboul Marie-Pierre⁸,Fergelot Patricia⁹,Lemonnier Lydie¹⁰,Mekki Chadia¹¹,Fanen Pascale¹¹,Bergougnoux Anne¹,Sasorith Souphatta¹,Raynal Caroline¹,Bareil Corinne¹

Affiliation:

1. Laboratoire de Génétique Moléculaire; Centre Hospitalier Universitaire et Université de Montpellier; Montpellier; France

2. Service de Génétique et Biologie Moléculaires; Groupe Hospitalier Cochin-Broca-Hotel Dieu; Paris France

3. Laboratoire de Génétique Moléculaire et d'Histocompatibilité; Centre Hospitalier Régional Universitaire; Brest France

4. Centre de Biologie Pathologie Génétique; Centre Hospitalier Régional Universitaire; Lille France

5. Département de Génétique; Centre Hospitalier Universitaire; Poitiers France

6. Service de Génétique Médicale; Centre Hospitalier Universitaire; Toulouse France

7. Département de Biochimie Génétique; Institut de Biologie en Santé; Centre Hospitalier Universitaire; Angers France

8. Laboratoire de Génétique Moléculaire; Centre Hospitalier Régional Universitaire; Bordeaux France

9. Laboratoire Maladies Rares; Génétique et Métabolisme; Bordeaux France

10. Registre français de la mucoviscidose; Vaincre la Mucoviscidose; Paris France

11. Laboratoire de Génétique; Hôpital Henri Mondor; Créteil France

Funder

Association Vaincre la Mucoviscidose

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference65 articles.

1. Genomic rearrangements in the CFTR gene: Extensive allelic heterogeneity and diverse mutational mechanisms;Audrezet;Human Mutation,2004

2. Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: Implications for diagnosis, genetic counseling, and mutation-specific therapy;Audrezet;Genet Medicine,2015

3. Mutation (variation) databases and registries: A rationale for coordination of efforts;Auerbach;Nature Review Genetics,2011

4. UMD-CFTR: A database dedicated to CF and CFTR-related disorders;Bareil;Human Mutation,2010

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