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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: raynal c. Hum Mutat. 2017 Oct;38(10):1297-1315. doi: 10.1002/humu.23276. Epub 2017 Jun 28. Hum Mutat. 2017. PMID: 28603918
A balance between activating and repressive histone modifications regulates cystic fibrosis transmembrane conductance regulator (CFTR) expression in vivo.
Bergougnoux A, Rivals I, Liquori A, Raynal C, Varilh J, Magalhães M, Perez MJ, Bigi N, Des Georges M, Chiron R, Squalli-Houssaini AS, Claustres M, De Sario A. Bergougnoux A, et al. Among authors: raynal c. Epigenetics. 2014 Jul;9(7):1007-17. doi: 10.4161/epi.28967. Epub 2014 Apr 29. Epigenetics. 2014. PMID: 24782114 Free PMC article.
The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.
Girardet A, Viart V, Plaza S, Daina G, De Rycke M, Des Georges M, Fiorentino F, Harton G, Ishmukhametova A, Navarro J, Raynal C, Renwick P, Saguet F, Schwarz M, SenGupta S, Tzetis M, Roux AF, Claustres M. Girardet A, et al. Among authors: raynal c. Eur J Hum Genet. 2016 Apr;24(4):469-78. doi: 10.1038/ejhg.2015.99. Epub 2015 May 27. Eur J Hum Genet. 2016. PMID: 26014425 Free PMC article.
Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: an optimized protocol using MEMO fluorescent PCR to detect the p.Phe508del mutation.
Guissart C, Dubucs C, Raynal C, Girardet A, Tran Mau Them F, Debant V, Rouzier C, Boureau-Wirth A, Haquet E, Puechberty J, Bieth E, Dupin Deguine D, Khau Van Kien P, Brechard MP, Pritchard V, Koenig M, Claustres M, Vincent MC. Guissart C, et al. Among authors: raynal c. J Cyst Fibros. 2017 Mar;16(2):198-206. doi: 10.1016/j.jcf.2016.12.011. Epub 2016 Dec 28. J Cyst Fibros. 2017. PMID: 28040480 Free article.
[Management of infants whose diagnosis is inconclusive at neonatal screening for cystic fibrosis].
Sermet-Gaudelus I, Brouard J, Audrézet MP, Couderc Kohen L, Weiss L, Wizla N, Vrielynck S, LLerena K, Le Bourgeois M, Deneuville E, Remus N, Nguyen-Khoa T, Raynal C, Roussey M, Girodon E. Sermet-Gaudelus I, et al. Among authors: raynal c. Arch Pediatr. 2017 Apr;24(4):401-414. doi: 10.1016/j.arcped.2017.01.019. Epub 2017 Mar 1. Arch Pediatr. 2017. PMID: 28258861 French.
Guidelines for the clinical management and follow-up of infants with inconclusive cystic fibrosis diagnosis through newborn screening.
Sermet-Gaudelus I, Brouard J, Audrézet MP, Couderc Kohen L, Weiss L, Wizla N, Vrielynck S, LLerena K, Le Bourgeois M, Deneuville E, Remus N, Nguyen-Khoa T, Raynal C, Roussey M, Girodon E. Sermet-Gaudelus I, et al. Among authors: raynal c. Arch Pediatr. 2017 Dec;24(12):e1-e14. doi: 10.1016/j.arcped.2017.07.015. Epub 2017 Nov 22. Arch Pediatr. 2017. PMID: 29174009
78 results