333 related articles for article (PubMed ID: 17594397)
1. Large deletions in the CFTR gene: clinics and genetics in Swiss patients with CF.
Schneider M; Hirt C; Casaulta C; Barben J; Spinas R; Bühlmann U; Spalinger J; Schwizer B; Chevalier-Porst F; Gallati S
Clin Genet; 2007 Jul; 72(1):30-8. PubMed ID: 17594397
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Identification and characterization of three large deletions and a deletion/polymorphism in the CFTR gene.
Chevalier-Porst F; Souche G; Bozon D
Hum Mutat; 2005 May; 25(5):504. PubMed ID: 15841482
[TBL] [Abstract][Full Text] [Related]
4. Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms.
Audrézet MP; Chen JM; Raguénès O; Chuzhanova N; Giteau K; Le Maréchal C; Quéré I; Cooper DN; Férec C
Hum Mutat; 2004 Apr; 23(4):343-57. PubMed ID: 15024729
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. [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]
8. Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: a multicentric Italian study.
Tomaiuolo R; Sangiuolo F; Bombieri C; Bonizzato A; Cardillo G; Raia V; D'Apice MR; Bettin MD; Pignatti PF; Castaldo G; Novelli G
J Cyst Fibros; 2008 Sep; 7(5):347-51. PubMed ID: 18280224
[TBL] [Abstract][Full Text] [Related]
9. A 32-bp deletion (2991del32) in the cystic fibrosis gene associated with CFTR mRNA reduction.
Dörk T; Will K; Grade K; Krawczak M; Tümmler B
Hum Mutat; 1994; 4(1):65-70. PubMed ID: 7524915
[TBL] [Abstract][Full Text] [Related]
10. Population screening of F508del (DeltaF508), the most frequent mutation in the CFTR gene associated with cystic fibrosis in Argentina.
Roqué M; Godoy CP; Castellanos M; Pusiol E; Mayorga LS
Hum Mutat; 2001 Aug; 18(2):167. PubMed ID: 11462248
[TBL] [Abstract][Full Text] [Related]
11. Molecular and clinical features associated with CFTR gene rearrangements in Italian population: identification of a new duplication and recurrent deletions.
Paracchini V; Seia M; Coviello D; Porcaro L; Costantino L; Capasso P; Degiorgio D; Padoan R; Corbetta C; Claut L; Costantini D; Colombo C
Clin Genet; 2008 Apr; 73(4):346-52. PubMed ID: 18279436
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Spatial and temporal distribution of cystic fibrosis and of its mutations in Brittany, France: a retrospective study from 1960.
Scotet V; Gillet D; Duguépéroux I; Audrézet MP; Bellis G; Garnier B; Roussey M; Rault G; Parent P; De Braekeleer M; Férec C;
Hum Genet; 2002 Sep; 111(3):247-54. PubMed ID: 12215837
[TBL] [Abstract][Full Text] [Related]
15. Frequency of large CFTR gene rearrangements in Italian CF patients.
Bombieri C; Bonizzato A; Castellani C; Assael BM; Pignatti PF
Eur J Hum Genet; 2005 May; 13(5):687-9. PubMed ID: 15741992
[TBL] [Abstract][Full Text] [Related]
16. [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]
17. Identification of a novel mutation of CFTR gene in a Korean patient with cystic fibrosis.
Ko JM; Kim GH; Kim KM; Hong SJ; Yoo HW
J Korean Med Sci; 2008 Oct; 23(5):912-5. PubMed ID: 18955805
[TBL] [Abstract][Full Text] [Related]
18. [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]
19. Large genomic rearrangements in the CFTR gene contribute to CBAVD.
Taulan M; Girardet A; Guittard C; Altieri JP; Templin C; Beroud C; des Georges M; Claustres M
BMC Med Genet; 2007 Apr; 8():22. PubMed ID: 17448246
[TBL] [Abstract][Full Text] [Related]
20. A large deletion causes apparent homozygosity for the D1152H mutation in the cystic fibrosis transmembrane regulator (CFTR) gene.
Diana A; Tesse R; Polizzi AM; Santostasi T; Manca A; Leonetti G; Seia M; Porcaro L; Cavallo L
Gene; 2012 Apr; 497(1):90-2. PubMed ID: 22310382
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
