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CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.
Claustres M, Thèze C, des Georges M, Baux D, Girodon E, Bienvenu T, Audrezet MP, Dugueperoux I, Férec C, Lalau G, Pagin A, Kitzis A, Thoreau V, Gaston V, Bieth E, Malinge MC, Reboul MP, Fergelot P, Lemonnier L, Mekki C, Fanen P, Bergougnoux A, Sasorith S, Raynal C, Bareil C. Claustres M, et al. Among authors: bergougnoux a. Hum Mutat. 2017 Oct;38(10):1297-1315. doi: 10.1002/humu.23276. Epub 2017 Jun 28. Hum Mutat. 2017. PMID: 28603918
Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene.
Bergougnoux A, Délétang K, Pommier A, Varilh J, Houriez F, Altieri JP, Koenig M, Férec C, Claustres M, Lalau G, Bienvenu T, Audrézet MP, Pagin A, Girodon E, Raynal C, Taulan-Cadars M. Bergougnoux A, et al. J Cyst Fibros. 2019 Jul;18(4):468-475. doi: 10.1016/j.jcf.2018.10.012. Epub 2018 Oct 30. J Cyst Fibros. 2019. PMID: 30389601 Free article.
CFTR gene variants: a predisposition factor to aquagenic palmoplantar keratoderma.
Raynal C, Girodon E, Audrezet MP, Cabet F, Pagin A, Reboul MP, Dufernez F, Fergelot P, Bergougnoux A, Fanen P, Ferec C, Bienvenu T. Raynal C, et al. Among authors: bergougnoux a. Br J Dermatol. 2019 Nov;181(5):1097-1099. doi: 10.1111/bjd.18162. Epub 2019 Aug 19. Br J Dermatol. 2019. PMID: 31310009 No abstract available.
Penetrance is a critical parameter for assessing the disease liability of CFTR variants.
Boussaroque A, Audrézet MP, Raynal C, Sermet-Gaudelus I, Bienvenu T, Férec C, Bergougnoux A, Lopez M, Scotet V, Munck A, Girodon E. Boussaroque A, et al. Among authors: bergougnoux a. J Cyst Fibros. 2020 Nov;19(6):949-954. doi: 10.1016/j.jcf.2020.03.019. Epub 2020 Apr 20. J Cyst Fibros. 2020. PMID: 32327388 Free article.
[No title available]
[No authors listed] [No authors listed] PMID: 33561103
43 results