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Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.
Castellani C, Cuppens H, Macek M Jr, Cassiman JJ, Kerem E, Durie P, Tullis E, Assael BM, Bombieri C, Brown A, Casals T, Claustres M, Cutting GR, Dequeker E, Dodge J, Doull I, Farrell P, Ferec C, Girodon E, Johannesson M, Kerem B, Knowles M, Munck A, Pignatti PF, Radojkovic D, Rizzotti P, Schwarz M, Stuhrmann M, Tzetis M, Zielenski J, Elborn JS. Castellani C, et al. Among authors: claustres m. J Cyst Fibros. 2008 May;7(3):179-96. doi: 10.1016/j.jcf.2008.03.009. J Cyst Fibros. 2008. PMID: 18456578 Free PMC article. Review.
SSCP analysis: a blind sensitivity trial.
Jordanova A, Kalaydjieva L, Savov A, Claustres M, Schwarz M, Estivill X, Angelicheva D, Haworth A, Casals T, Kremensky I. Jordanova A, et al. Among authors: claustres m. Hum Mutat. 1997;10(1):65-70. doi: 10.1002/(SICI)1098-1004(1997)10:1<65::AID-HUMU9>3.0.CO;2-L. Hum Mutat. 1997. PMID: 9222762
Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13.
Zielenski J, Corey M, Rozmahel R, Markiewicz D, Aznarez I, Casals T, Larriba S, Mercier B, Cutting GR, Krebsova A, Macek M Jr, Langfelder-Schwind E, Marshall BC, DeCelie-Germana J, Claustres M, Palacio A, Bal J, Nowakowska A, Ferec C, Estivill X, Durie P, Tsui LC. Zielenski J, et al. Among authors: claustres m. Nat Genet. 1999 Jun;22(2):128-9. doi: 10.1038/9635. Nat Genet. 1999. PMID: 10369249 No abstract available.
A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals.
Bombieri C, Giorgi S, Carles S, de Cid R, Belpinati F, Tandoi C, Pallares-Ruiz N, Lazaro C, Ciminelli BM, Romey MC, Casals T, Pompei F, Gandini G, Claustres M, Estivill X, Pignatti PF, Modiano G. Bombieri C, et al. Among authors: claustres m. Hum Genet. 2000 Feb;106(2):172-8. doi: 10.1007/s004390051025. Hum Genet. 2000. PMID: 10746558 Free 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. 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
Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study.
Amaral MD, Pacheco P, Beck S, Farinha CM, Penque D, Nogueira P, Barreto C, Lopes B, Casals T, Dapena J, Gartner S, Vásquez C, Pérez-Frías J, Olveira C, Cabanas R, Estivill X, Tzetis M, Kanavakis E, Doudounakis S, Dörk T, Tümmler B, Girodon-Boulandet E, Cazeneuve C, Goossens M, Blayau M, Verlingue C, Vieira I, Féréc C, Claustres M, des Georges M, Clavel C, Birembaut P, Hubert D, Bienvenu T, Adoun M, Chomel JC, De Boeck K, Cuppens H, Lavinha J. Amaral MD, et al. Among authors: claustres m. J Med Genet. 2001 Nov;38(11):777-83. doi: 10.1136/jmg.38.11.777. J Med Genet. 2001. PMID: 11732487 Free PMC article. No abstract available.
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: claustres m. Hum Mutat. 2003 Oct;22(4):340. doi: 10.1002/humu.9183. Hum Mutat. 2003. PMID: 12955726
299 results