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Page 1
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Leman R, Gaildrat P, Le Gac G, Ka C, Fichou Y, Audrezet MP, Caux-Moncoutier V, Caputo SM, Boutry-Kryza N, Léone M, Mazoyer S, Bonnet-Dorion F, Sevenet N, Guillaud-Bataille M, Rouleau E, Bressac-de Paillerets B, Wappenschmidt B, Rossing M, Muller D, Bourdon V, Revillon F, Parsons MT, Rousselin A, Davy G, Castelain G, Castéra L, Sokolowska J, Coulet F, Delnatte C, Férec C, Spurdle AB, Martins A, Krieger S, Houdayer C. Leman R, et al. Among authors: ferec c. Nucleic Acids Res. 2018 Sep 6;46(15):7913-7923. doi: 10.1093/nar/gky372. Nucleic Acids Res. 2018. PMID: 29750258 Free PMC article.
A polymorphism in intron 20 of the CFTR gene.
Quere I, Guillermit H, Mercier B, Audrezet MP, Ferec C. Quere I, et al. Among authors: ferec c. Nucleic Acids Res. 1991 Oct 11;19(19):5453. doi: 10.1093/nar/19.19.5453-a. Nucleic Acids Res. 1991. PMID: 1717950 Free PMC article.
Identification of 12 novel mutations in the CFTR gene.
Audrézet MP, Mercier B, Guillermit H, Quéré I, Verlingue C, Rault G, Férec C. Audrézet MP, et al. Among authors: ferec c. Hum Mol Genet. 1993 Jan;2(1):51-4. doi: 10.1093/hmg/2.1.51. Hum Mol Genet. 1993. PMID: 7683952
TP53 and oesophageal cancer.
Ferec C, Giroux MA, Audrezet MP, Robaszkiewicz M. Ferec C, et al. Pathol Biol (Paris). 1997 Dec;45(10):871-5. Pathol Biol (Paris). 1997. PMID: 9769951 Review.
Nramp2 analysis in hemochromatosis probands.
Le Gac G, Mura C, Raguenes O, Mercier AY, de Braekeleer M, Férec C. Le Gac G, et al. Among authors: ferec c. Blood Cells Mol Dis. 2000 Aug;26(4):312-9. doi: 10.1006/bcmd.2000.0312. Blood Cells Mol Dis. 2000. PMID: 11042033
Determination of the relative contribution of three genes-the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene-to the etiology of idiopathic chronic pancreatitis.
Audrézet MP, Chen JM, Le Maréchal C, Ruszniewski P, Robaszkiewicz M, Raguénès O, Quéré I, Scotet V, Férec C. Audrézet MP, et al. Among authors: ferec c. Eur J Hum Genet. 2002 Feb;10(2):100-6. doi: 10.1038/sj.ejhg.5200786. Eur J Hum Genet. 2002. PMID: 11938439
576 results