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11 results

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Page 1
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: houssin 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
CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders.
Thauvin-Robinet C, Munck A, Huet F, de Becdelièvre A, Jimenez C, Lalau G, Gautier E, Rollet J, Flori J, Nové-Josserand R, Soufir JC, Haloun A, Hubert D, Houssin E, Bellis G, Rault G, David A, Janny L, Chiron R, Rives N, Hairion D, Collignon P, Valeri A, Karsenty G, Rossi A, Audrézet MP, Férec C, Leclerc J, Georges Md, Claustres M, Bienvenu T, Gérard B, Boisseau P, Cabet-Bey F, Cheillan D, Feldmann D, Clavel C, Bieth E, Iron A, Simon-Bouy B, Izard V, Steffann J, Viville S, Costa C, Drouineaud V, Fauque P, Binquet C, Bonithon-Kopp C, Morris MA, Faivre L, Goossens M, Roussey M, Girodon E; collaborating working group on p.Arg117His. Thauvin-Robinet C, et al. Among authors: houssin e. J Med Genet. 2013 Apr;50(4):220-7. doi: 10.1136/jmedgenet-2012-101427. Epub 2013 Feb 1. J Med Genet. 2013. PMID: 23378603
Screening to detect permanent childhood hearing impairment in neonates transferred from the newborn nursery.
Dauman R, Roussey M, Belot V, Denoyelle F, Roman S, Gavilan-Cellié I, Ruzza-Surroca I, Calmels MN, Lina-Granade G, Houssin E, Charlemagne A, Garabedian N. Dauman R, et al. Among authors: houssin e. Int J Pediatr Otorhinolaryngol. 2009 Mar;73(3):457-65. doi: 10.1016/j.ijporl.2008.12.001. Epub 2009 Jan 10. Int J Pediatr Otorhinolaryngol. 2009. PMID: 19136157
Development of a multilocus sequence typing scheme for Rhodococcus equi.
Duquesne F, Houssin E, Sévin C, Duytschaever L, Tapprest J, Fretin D, Hébert L, Laugier C, Petry S. Duquesne F, et al. Among authors: houssin e. Vet Microbiol. 2017 Oct;210:64-70. doi: 10.1016/j.vetmic.2017.08.010. Epub 2017 Aug 19. Vet Microbiol. 2017. PMID: 29103698
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