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A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice.
Costa C, Pruliere-Escabasse V, de Becdelievre A, Gameiro C, Golmard L, Guittard C, Bassinet L, Bienvenu T, Georges MD, Epaud R, Bieth E, Giurgea I, Aissat A, Hinzpeter A, Costes B, Fanen P, Goossens M, Claustres M, Coste A, Girodon E. Costa C, et al. Among authors: guittard c. J Cyst Fibros. 2011 Dec;10(6):479-82. doi: 10.1016/j.jcf.2011.06.011. Epub 2011 Jul 23. J Cyst Fibros. 2011. PMID: 21783433 Free article.
UMD-CFTR: a database dedicated to CF and CFTR-related disorders.
Bareil C, Thèze C, Béroud C, Hamroun D, Guittard C, René C, Paulet D, Georges Md, Claustres M. Bareil C, et al. Among authors: guittard c. Hum Mutat. 2010 Sep;31(9):1011-9. doi: 10.1002/humu.21316. Hum Mutat. 2010. PMID: 20607857
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: guittard c. 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.
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: guittard c. 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
Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?
Claustres M, Altiéri JP, Guittard C, Templin C, Chevalier-Porst F, Des Georges M. Claustres M, et al. Among authors: guittard c. BMC Med Genet. 2004 Aug 2;5:19. doi: 10.1186/1471-2350-5-19. BMC Med Genet. 2004. PMID: 15287992 Free PMC article.
41 results