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Journal Abstract Search
351 related items for PubMed ID: 9180964
1. [Molecular basis of phenotype heterogeneity in cystic fibrosis]. Bienvenu T. Ann Biol Clin (Paris); 1997; 55(2):113-21. PubMed ID: 9180964 [Abstract] [Full Text] [Related]
2. Genotype-phenotype correlation in cystic fibrosis patients. Ferrari M, Cremonesi L. Ann Biol Clin (Paris); 1996; 54(6):235-41. PubMed ID: 8949420 [Abstract] [Full Text] [Related]
3. [Epidemiologic study of the cystic fibrosis gene in the Champagne-Ardenne region]. Clavel C, Pennaforte F, Pigeon F, Mozelle M, Boutterin MC, Duval-Binninger I, F-erec C, Birembaut P. Ann Biol Clin (Paris); 1996; 54(2):67-74. PubMed ID: 8763629 [Abstract] [Full Text] [Related]
4. [Cystic fibrosis transmembrane conductance regulator (CFTR) gene: mutations and clinical phenotypes]. Schwartz M. Ugeskr Laeger; 2003 Feb 24; 165(9):912-6. PubMed ID: 12661515 [Abstract] [Full Text] [Related]
5. 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 24; 90(5):2004.e23-6. PubMed ID: 18703181 [Abstract] [Full Text] [Related]
6. [Correlation between phenotype and genotype in a group of patients with cystic fibrosis]. Navarro H, Kolbach M, Repetto G, Guiraldes E, Harris P, Foradori A, Poggi H, Sánchez I. Rev Med Chil; 2002 May 24; 130(5):475-81. PubMed ID: 12143267 [Abstract] [Full Text] [Related]
7. Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations. Alibakhshi R, Kianishirazi R, Cassiman JJ, Zamani M, Cuppens H. J Cyst Fibros; 2008 Mar 24; 7(2):102-9. PubMed ID: 17662673 [Abstract] [Full Text] [Related]
8. [Relation between gene mutations and pancreatic exocrine function in patients with cystic fibrosis]. Radivojević D, Guć-Sćekić M, Djurisić M, Lalić T, Minić P, Kanavakis E. Srp Arh Celok Lek; 2001 Mar 24; 129 Suppl 1():6-9. PubMed ID: 15637983 [Abstract] [Full Text] [Related]
9. Pancreatitis among patients with cystic fibrosis: correlation with pancreatic status and genotype. De Boeck K, Weren M, Proesmans M, Kerem E. Pediatrics; 2005 Apr 24; 115(4):e463-9. PubMed ID: 15772171 [Abstract] [Full Text] [Related]
10. [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 24; 18(104):205-9. PubMed ID: 17877132 [Abstract] [Full Text] [Related]
11. Improved detection of CFTR mutations in Southern California Hispanic CF patients. Wong LJ, Wang J, Zhang YH, Hsu E, Heim RA, Bowman CM, Woo MS. Hum Mutat; 2001 Oct 24; 18(4):296-307. PubMed ID: 11668613 [Abstract] [Full Text] [Related]
12. Genotype-phenotype correlation in cystic fibrosis: the role of modifier genes. Salvatore F, Scudiero O, Castaldo G. Am J Med Genet; 2002 Jul 22; 111(1):88-95. PubMed ID: 12124743 [Abstract] [Full Text] [Related]
13. 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. Hum Mutat; 2000 Jul 22; 16(2):143-56. PubMed ID: 10923036 [Abstract] [Full Text] [Related]
14. [Cystic fibrosis gene mutations in the West of France: clinical application]. Verlingue C, Travert G, Le Roux MG, Laroche D, Audrézet MP, Mercier B, Moisan JP, Férec C. Ann Biol Clin (Paris); 1994 Jul 22; 52(11):757-64. PubMed ID: 7747883 [Abstract] [Full Text] [Related]
15. [Cystic fibrosis: molecular update and clinical implications]. Orozco L, Chávez M, Saldaña Y, Velázquez R, Carnevale A, González-del Angel A, Jiménez S. Rev Invest Clin; 2006 Jul 22; 58(2):139-52. PubMed ID: 16827266 [Abstract] [Full Text] [Related]
16. CFTR gene mutations in adults with disseminated bronchiectasis. Girodon E, Cazeneuve C, Lebargy F, Chinet T, Costes B, Ghanem N, Martin J, Lemay S, Scheid P, Housset B, Bignon J, Goossens M. Eur J Hum Genet; 1997 Jul 22; 5(3):149-55. PubMed ID: 9272738 [Abstract] [Full Text] [Related]
17. Two novel missense and one novel nonsense CFTR mutations in Iranian males with congenital bilateral absence of the vas deferens. Radpour R, Gourabi H, Gilani MA, Dizaj AV, Rezaee M, Mollamohamadi S. Mol Hum Reprod; 2006 Nov 22; 12(11):717-21. PubMed ID: 16973827 [Abstract] [Full Text] [Related]
18. Congenital absence of vas deferens and cystic fibrosis. Leonardi S, Bombace V, Rotolo N, Sciuto C, La Rosa M. Minerva Pediatr; 2003 Feb 22; 55(1):43-7, 47-50. PubMed ID: 12660625 [Abstract] [Full Text] [Related]
19. Mutation analysis of the CFTR gene in Slovak cystic fibrosis patients by DHPLC and subsequent sequencing: identification of four novel mutations. Kolesár P, Minárik G, Baldovic M, Ficek A, Kovács L, Kádasi L. Gen Physiol Biophys; 2008 Dec 22; 27(4):299-305. PubMed ID: 19202204 [Abstract] [Full Text] [Related]
20. Mutations of the CFTR gene in Turkish patients with congenital bilateral absence of the vas deferens. Dayangaç D, Erdem H, Yilmaz E, Sahin A, Sohn C, Ozgüç M, Dörk T. Hum Reprod; 2004 May 22; 19(5):1094-100. PubMed ID: 15070876 [Abstract] [Full Text] [Related] Page: [Next] [New Search]