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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. 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
Correction to: A 1-Year Prospective French Nationwide Study of Emergency Hospital Admissions in Children and Adults with Primary Immunodeficiency.
Coignard-Biehler H, Mahlaoui N, Pilmis B, Barlogis V, Brosselin P, De Vergnes N, Debré M, Malphettes M, Frange P, Catherinot E, Pellier I, Durieu I, Perlat A, Royer B, Quellec AL, Jeziorski E, Fischer A, Lortholary O; CEREDIH French PID study group. Coignard-Biehler H, et al. J Clin Immunol. 2020 Jul;40(5):786-787. doi: 10.1007/s10875-020-00793-8. J Clin Immunol. 2020. PMID: 32578002
Extra respiratory comorbidities in adult patients with cystic fibrosis.
Antoine M, Perceval M, Nove-Josserand R, Durieu I, Reynaud Q. Antoine M, et al. Among authors: nove josserand r. Eur J Intern Med. 2024 Jan;119:151-153. doi: 10.1016/j.ejim.2023.10.031. Epub 2023 Nov 1. Eur J Intern Med. 2024. PMID: 37923586 No abstract available.
[Bone health in cystic fibrosis].
Sermet-Gaudelus I, Castanet M, Souberbielle JC, Mallet E; Le Groupe de Travail sur Minéralisation Osseuse et Mucoviscidose de la Fédération Française des Centres de Ressource et de Compétence en Mucoviscidose. Sermet-Gaudelus I, et al. Arch Pediatr. 2009 Jun;16(6):616-8. doi: 10.1016/S0929-693X(09)74088-6. Arch Pediatr. 2009. PMID: 19541106 French. No abstract available.
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. 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
97 results