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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: girodon e. 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.
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: girodon e. Hum Mutat. 2003 Oct;22(4):340. doi: 10.1002/humu.9183. Hum Mutat. 2003. PMID: 12955726
Misprocessing of the CFTR protein leads to mild cystic fibrosis phenotype.
Clain J, Lehmann-Che J, Duguépéroux I, Arous N, Girodon E, Legendre M, Goossens M, Edelman A, de Braekeleer M, Teulon J, Fanen P. Clain J, et al. Among authors: girodon e. Hum Mutat. 2005 Apr;25(4):360-71. doi: 10.1002/humu.20156. Hum Mutat. 2005. PMID: 15776432
Recurrent insertional polydactyly and situs inversus in a Bardet-Biedl syndrome family.
Deffert C, Niel F, Mochel F, Barrey C, Romana C, Souied E, Stoetzel C, Goossens M, Dollfus H, Verloes A, Girodon E, Gerard-Blanluet M. Deffert C, et al. Among authors: girodon e. Am J Med Genet A. 2007 Jan 15;143A(2):208-13. doi: 10.1002/ajmg.a.31585. Am J Med Genet A. 2007. PMID: 17163542 No abstract available.
Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling.
Ratbi I, Legendre M, Niel F, Martin J, Soufir JC, Izard V, Costes B, Costa C, Goossens M, Girodon E. Ratbi I, et al. Among authors: girodon e. Hum Reprod. 2007 May;22(5):1285-91. doi: 10.1093/humrep/dem024. Epub 2007 Feb 28. Hum Reprod. 2007. PMID: 17329263
124 results