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54 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: iron a. 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
p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study.
René C, Paulet D, Girodon E, Costa C, Lalau G, Leclerc J, Cabet-Bey F, Bienvenu T, Blayau M, Iron A, Mittre H, Feldmann D, Guittard C, Claustres M, Georges Md. René C, et al. Among authors: iron a. Eur J Hum Genet. 2011 Jan;19(1):36-42. doi: 10.1038/ejhg.2010.137. Epub 2010 Aug 18. Eur J Hum Genet. 2011. PMID: 20717170 Free PMC article.
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: iron a. 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
Measurement of nasal potential difference in young children with an equivocal sweat test following newborn screening for cystic fibrosis.
Sermet-Gaudelus I, Girodon E, Roussel D, Deneuville E, Bui S, Huet F, Guillot M, Aboutaam R, Renouil M, Munck A, des Georges M, Iron A, Thauvin-Robinet C, Fajac I, Lenoir G, Roussey M, Edelman A. Sermet-Gaudelus I, et al. Among authors: iron a. Thorax. 2010 Jun;65(6):539-44. doi: 10.1136/thx.2009.123422. Thorax. 2010. PMID: 20522854
Clinical phenotype and genotype of children with borderline sweat test and abnormal nasal epithelial chloride transport.
Sermet-Gaudelus I, Girodon E, Sands D, Stremmler N, Vavrova V, Deneuville E, Reix P, Bui S, Huet F, Lebourgeois M, Munck A, Iron A, Skalicka V, Bienvenu T, Roussel D, Lenoir G, Bellon G, Sarles J, Macek M, Roussey M, Fajac I, Edelman A. Sermet-Gaudelus I, et al. Among authors: iron a. Am J Respir Crit Care Med. 2010 Oct 1;182(7):929-36. doi: 10.1164/rccm.201003-0382OC. Epub 2010 Jun 10. Am J Respir Crit Care Med. 2010. PMID: 20538955
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: iron a. 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
CFTR genotypes in patients with normal or borderline sweat chloride levels.
Feldmann D, Couderc R, Audrezet MP, Ferec C, Bienvenu T, Desgeorges M, Claustres M, Mittre H, Blayau M, Bozon D, Malinge MC, Monnier N, Bonnefont JP, Iron A, Bieth E, Dumur V, Clavel C, Cazeneuve C, Girodon E. Feldmann D, et al. Among authors: iron a. Hum Mutat. 2003 Oct;22(4):340. doi: 10.1002/humu.9183. Hum Mutat. 2003. PMID: 12955726
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