491 related articles for article (PubMed ID: 17481968)
1. High incidence of the CFTR mutations 3272-26A-->G and L927P in Belgian cystic fibrosis patients, and identification of three new CFTR mutations (186-2A-->G, E588V, and 1671insTATCA).
Storm K; Moens E; Vits L; De Vlieger H; Delaere G; D'Hollander M; Wuyts W; Biervliet M; Van Schil L; Desager K; Nöthen MM
J Cyst Fibros; 2007 Nov; 6(6):371-5. PubMed ID: 17481968
[TBL] [Abstract][Full Text] [Related]
2. 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; 7(2):102-9. PubMed ID: 17662673
[TBL] [Abstract][Full Text] [Related]
3. [Cystic fibrosis transmembrane conductance regulator (CFTR) gene: mutations and clinical phenotypes].
Schwartz M
Ugeskr Laeger; 2003 Feb; 165(9):912-6. PubMed ID: 12661515
[TBL] [Abstract][Full Text] [Related]
4. [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]
5. Lack of association of common cystic fibrosis transmembrane conductance regulator gene mutations with primary sclerosing cholangitis.
Gallegos-Orozco JF; E Yurk C; Wang N; Rakela J; Charlton MR; Cutting GR; Balan V
Am J Gastroenterol; 2005 Apr; 100(4):874-8. PubMed ID: 15784035
[TBL] [Abstract][Full Text] [Related]
6. 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; 18(4):296-307. PubMed ID: 11668613
[TBL] [Abstract][Full Text] [Related]
7. 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; 27(4):299-305. PubMed ID: 19202204
[TBL] [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; 129 Suppl 1():6-9. PubMed ID: 15637983
[TBL] [Abstract][Full Text] [Related]
9. Genotype-phenotype relationship for five CFTR mutations frequently identified in western France.
Duguépéroux I; De Braekeleer M;
J Cyst Fibros; 2004 Dec; 3(4):259-63. PubMed ID: 15698945
[TBL] [Abstract][Full Text] [Related]
10. Pancreatitis among patients with cystic fibrosis: correlation with pancreatic status and genotype.
De Boeck K; Weren M; Proesmans M; Kerem E
Pediatrics; 2005 Apr; 115(4):e463-9. PubMed ID: 15772171
[TBL] [Abstract][Full Text] [Related]
11. Increased frequency of CFTR gene mutations in sarcoidosis: a case/control association study.
Bombieri C; Luisetti M; Belpinati F; Zuliani E; Beretta A; Baccheschi J; Casali L; Pignatti PF
Eur J Hum Genet; 2000 Sep; 8(9):717-20. PubMed ID: 10980579
[TBL] [Abstract][Full Text] [Related]
12. Mutations in CFTR gene and clinical correlation in Argentine patients with congenital bilateral absence of the vas deferens.
Levy EM; Granados P; Rawe V; Olmedo SB; Luna MC; Cafferata E; Pivetta OH
Medicina (B Aires); 2004; 64(3):213-8. PubMed ID: 15239534
[TBL] [Abstract][Full Text] [Related]
13. Characterisation of mutations and genotype-phenotype correlation in cystic fibrosis: experience from India.
Shastri SS; Kabra M; Kabra SK; Pandey RM; Menon PS
J Cyst Fibros; 2008 Mar; 7(2):110-5. PubMed ID: 17716958
[TBL] [Abstract][Full Text] [Related]
14. Cystic fibrosis patients with the 3272-26A-->G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane.
Beck S; Penque D; Garcia S; Gomes A; Farinha C; Mata L; Gulbenkian S; Gil-Ferreira K; Duarte A; Pacheco P; Barreto C; Lopes B; Cavaco J; Lavinha J; Amaral MD
Hum Mutat; 1999; 14(2):133-44. PubMed ID: 10425036
[TBL] [Abstract][Full Text] [Related]
15. Mutation analysis of CFTR gene in 70 Iranian cystic fibrosis patients.
Alibakhshi R; Zamani M
Iran J Allergy Asthma Immunol; 2006 Mar; 5(1):3-8. PubMed ID: 17242497
[TBL] [Abstract][Full Text] [Related]
16. [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; 58(2):139-52. PubMed ID: 16827266
[TBL] [Abstract][Full Text] [Related]
17. [Identification of mutation in the gene cystic fibrosis transmembrane regulator (CFTR) in Chilean patients with cystic fibrosis].
Repetto G; Poggi H; Harris P; Navarro H; Sánchez I; Guiraldes E; Pérez MA; Boza ML; Hunter B; Wevar ME; Mediavilla M; Foradori A
Rev Med Chil; 2001 Aug; 129(8):841-7. PubMed ID: 11680956
[TBL] [Abstract][Full Text] [Related]
18. Screening of CFTR mutations in an isolated population: identification of carriers and patients.
Chiba-Falek O; Nissim-Rafinia M; Argaman Z; Genem A; Moran I; Kerem E; Kerem B
Eur J Hum Genet; 1998; 6(2):181-4. PubMed ID: 9781064
[TBL] [Abstract][Full Text] [Related]
19. Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes.
Cremonesi L; Ferrari M; Belloni E; Magnani C; Seia M; Ronchetto P; Rady M; Russo MP; Romeo G; Devoto M
Hum Mutat; 1992; 1(4):314-9. PubMed ID: 1284538
[TBL] [Abstract][Full Text] [Related]
20. CFTR gene analysis in cystic fibrosis patients: detection of 91% of molecular defects and identification of the novel mutation D979V.
Plouvier E; Cougoureux E; Sardet A; Tournier G; Aymard P; Feldmann D
Ann Genet; 1997; 40(3):185-8. PubMed ID: 9401110
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
