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[Genetic counseling in cystic fibrosis].
Julia S, Bieth E. Julia S, et al. Among authors: bieth e. Rev Mal Respir. 2000 Aug;17(3 Pt 2):807-11. Rev Mal Respir. 2000. PMID: 11076391 French.
A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis.
Guissart C, Tran Mau Them F, Debant V, Viart V, Dubucs C, Pritchard V, Rouzier C, Boureau-Wirth A, Haquet E, Puechberty J, Bieth E, Khau Van Kien P, Brechard MP, Raynal C, Girardet A, Claustres M, Koenig M, Vincent MC. Guissart C, et al. Among authors: bieth e. Fetal Diagn Ther. 2019;45(6):403-412. doi: 10.1159/000489776. Epub 2018 Aug 17. Fetal Diagn Ther. 2019. PMID: 30121677
The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening.
Thauvin-Robinet C, Munck A, Huet F, Génin E, Bellis G, Gautier E, Audrézet MP, Férec C, Lalau G, Georges MD, Claustres M, Bienvenu T, Gérard B, Boisseau P, Cabet-Bey F, Feldmann D, Clavel C, Bieth E, Iron A, Simon-Bouy B, Costa C, Medina R, Leclerc J, Hubert D, Nové-Josserand R, Sermet-Gaudelus I, Rault G, Flori J, Leroy S, Wizla N, Bellon G, Haloun A, Perez-Martin S, d'Acremont G, Corvol H, Clément A, Houssin E, Binquet C, Bonithon-Kopp C, Alberti-Boulmé C, Morris MA, Faivre L, Goossens M, Roussey M; Collaborating Working Group on R117H; Girodon E. Thauvin-Robinet C, et al. Among authors: bieth e. J Med Genet. 2009 Nov;46(11):752-8. doi: 10.1136/jmg.2009.067215. Epub 2009 Jun 29. J Med Genet. 2009. PMID: 19880712
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: bieth e. 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.
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
Claustres M, Guittard C, Bozon D, Chevalier F, Verlingue C, Ferec C, Girodon E, Cazeneuve C, Bienvenu T, Lalau G, Dumur V, Feldmann D, Bieth E, Blayau M, Clavel C, Creveaux I, Malinge MC, Monnier N, Malzac P, Mittre H, Chomel JC, Bonnefont JP, Iron A, Chery M, Georges MD. Claustres M, et al. Among authors: bieth e. Hum Mutat. 2000;16(2):143-56. doi: 10.1002/1098-1004(200008)16:2<143::AID-HUMU7>3.0.CO;2-J. Hum Mutat. 2000. PMID: 10923036
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