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4. [First diagnosis of cystic fibrosis in Afghanistan and description of a new mutation]. Vic P; Manalai GG; Labat F; Sabet W; Leis A; Ferec C Arch Pediatr; 2010 Feb; 17(2):180-1. PubMed ID: 20018497 [No Abstract] [Full Text] [Related]
6. Novel de novo large deletion in cystic fibrosis transmembrane conductance regulator gene results in a severe cystic fibrosis phenotype. Norek A; Stremska M; Sobczyńska-Tomaszewska A; Wertheim-Tysarowska K; Dmeńska H; Jurek M J Pediatr; 2011 Aug; 159(2):343-6.e1. PubMed ID: 21663921 [TBL] [Abstract][Full Text] [Related]
7. Homozygosity for L997F in a child with normal clinical and chloride secretory phenotype provides evidence that this cystic fibrosis transmembrane conductance regulator mutation does not cause cystic fibrosis. Derichs N; Schuster A; Grund I; Ernsting A; Stolpe C; Körtge-Jung S; Gallati S; Stuhrmann M; Kozlowski P; Ballmann M Clin Genet; 2005 Jun; 67(6):529-31. PubMed ID: 15857421 [No Abstract] [Full Text] [Related]
8. Identification of four novel mutations in the cystic fibrosis transmembrane conductance regulator gene: E664X, 2113delA, 306delTAGA, and delta M1140. Clavel C; Pennaforte F; Pigeon F; Verlingue C; Birembaut P; Férec C Hum Mutat; 1997; 9(4):368-9. PubMed ID: 9101301 [No Abstract] [Full Text] [Related]
9. Newborn screening for cystic fibrosis. Wallace J; Stein Q S D Med; 2006 Oct; 59(10):429-31. PubMed ID: 17124920 [No Abstract] [Full Text] [Related]
14. [Genotype and phenotype of gastrointestinal symptoms analysis in children with cystic fibrosis]. Iwańczak F; Smigiel R; Stawarski A; Pawłowicz J; Stembalska A; Mowszet K; Sasiadek M Pol Merkur Lekarski; 2005 Feb; 18(104):205-9. PubMed ID: 17877132 [TBL] [Abstract][Full Text] [Related]
15. Outcome of intracytoplasmic sperm injection for a couple in which the man is carrier of CFTR p.[R74W;V201M;D1270N] and p.P841R mutations and his spouse a heterozygous carrier of p.F508del mutation of the cystic fibrosis transmembrane conductance regulator gene. Brugnon F; Bilan F; Heraud MC; Grizard G; Janny L; Creveaux I Fertil Steril; 2008 Nov; 90(5):2004.e23-6. PubMed ID: 18703181 [TBL] [Abstract][Full Text] [Related]
17. Phenotypic variability in a family with pancreatitis and cystic fibrosis sharing common mild CFTR mutation: report on CFTR mutations and their phenotypic variability. Alghisi F; Bella S; Lucidi V; Angioni A; Tomaiuolo AC; D'Apice MR; Gambardella S; Novelli G Pancreas; 2009 Jan; 38(1):109-10. PubMed ID: 19106752 [No Abstract] [Full Text] [Related]
18. [Molecular basis of phenotype heterogeneity in cystic fibrosis]. Bienvenu T Ann Biol Clin (Paris); 1997; 55(2):113-21. PubMed ID: 9180964 [TBL] [Abstract][Full Text] [Related]
19. Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult. Romey MC; Desgeorges M; Ray P; Godard P; Demaille J; Claustres M Hum Mutat; 1995; 6(2):190-1. PubMed ID: 7581407 [No Abstract] [Full Text] [Related]
20. Novel mutation (A141D) in exon 4 of the CFTR gene identified in an Algerian patient. Gouya L; Pascaud O; Munck A; Elion J; Denamur E Hum Mutat; 1997; 10(1):86-7. PubMed ID: 9222768 [No Abstract] [Full Text] [Related] [Next] [New Search]