204 related articles for article (PubMed ID: 31136843)
1. Deletion of exons 16-17b of CFTR is frequently identified in Korean patients with cystic fibrosis.
Sohn YB; Ko JM; Jang JY; Seong MW; Park SS; Suh DI; Ko JS; Shin CH
Eur J Med Genet; 2019 Aug; 62(8):103681. PubMed ID: 31136843
[TBL] [Abstract][Full Text] [Related]
2. Distribution of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutations in a Cohort of Patients Residing in Palestine.
Siryani I; Jama M; Rumman N; Marzouqa H; Kannan M; Lyon E; Hindiyeh M
PLoS One; 2015; 10(7):e0133890. PubMed ID: 26208274
[TBL] [Abstract][Full Text] [Related]
3. Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis.
Schrijver I; Rappahahn K; Pique L; Kharrazi M; Wong LJ
J Mol Diagn; 2008 Jul; 10(4):368-75. PubMed ID: 18556774
[TBL] [Abstract][Full Text] [Related]
4. Characterization of a recurrent 3.8kb deletion involving exons 17a and 17b within the CFTR gene.
Tang S; Moonnumakal SP; Stevens B; Douglas G; Mason S; Schmitt ES; Eng CM; Katz M; Fang P
J Cyst Fibros; 2013 May; 12(3):290-4. PubMed ID: 22998936
[TBL] [Abstract][Full Text] [Related]
5. Detection of a large heterozygous deletion and a splicing defect in the CFTR transcripts from nasal swab of a Japanese case of cystic fibrosis.
Nakakuki M; Fujiki K; Yamamoto A; Ko SB; Yi L; Ishiguro M; Yamaguchi M; Kondo S; Maruyama S; Yanagimoto K; Naruse S; Ishiguro H
J Hum Genet; 2012 Jul; 57(7):427-33. PubMed ID: 22572733
[TBL] [Abstract][Full Text] [Related]
6. Heterogeneous spectrum of CFTR gene mutations in Korean patients with cystic fibrosis.
Jung H; Ki CS; Koh WJ; Ahn KM; Lee SI; Kim JH; Ko JS; Seo JK; Cha SI; Lee ES; Kim JW
Korean J Lab Med; 2011 Jul; 31(3):219-24. PubMed ID: 21779199
[TBL] [Abstract][Full Text] [Related]
7. Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening.
Hantash FM; Redman JB; Starn K; Anderson B; Buller A; McGinniss MJ; Quan F; Peng M; Sun W; Strom CM
Hum Genet; 2006 Mar; 119(1-2):126-36. PubMed ID: 16362824
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. A novel homozygous complex deletion in CFTR caused cystic fibrosis in a Chinese patient.
Liu K; Liu Y; Li X; Xu KF; Tian X; Zhang X
Mol Genet Genomics; 2017 Oct; 292(5):1083-1089. PubMed ID: 28620757
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Analysis of rearrangements of the CFTR gene in patients from Turkey with CFTR-related disorders: frequent exon 2 deletion.
Duz MB; Ozyavuz Cubuk P
J Hum Genet; 2021 Mar; 66(3):315-320. PubMed ID: 33093640
[TBL] [Abstract][Full Text] [Related]
13. CFTR genotype and clinical outcomes of adult patients carried as cystic fibrosis disease.
Bonadia LC; de Lima Marson FA; Ribeiro JD; Paschoal IA; Pereira MC; Ribeiro AF; Bertuzzo CS
Gene; 2014 May; 540(2):183-90. PubMed ID: 24583165
[TBL] [Abstract][Full Text] [Related]
14. Clinical and genetic features of cystic fibrosis in Japan.
Kozawa Y; Yamamoto A; Nakakuki M; Fujiki K; Kondo S; Okada T; Fukuyasu T; Yamaguchi M; Taniguchi I; Nomura N; Liu L; Higuchi M; Niwa E; Sohma Y; Naruse S; Takeyama Y; Ishiguro H
J Hum Genet; 2023 Oct; 68(10):671-680. PubMed ID: 37217688
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus.
Petrova NV; Kashirskaya NY; Saydaeva DK; Polyakov AV; Adyan TA; Simonova OI; Gorinova YV; Kondratyeva EI; Sherman VD; Novoselova OG; Vasilyeva TA; Marakhonov AV; Macek M; Ginter EK; Zinchenko RA
BMC Med Genet; 2019 Mar; 20(1):44. PubMed ID: 30898088
[TBL] [Abstract][Full Text] [Related]
17. Complete cystic fibrosis transmembrane conductance regulator gene sequencing in patients with idiopathic chronic pancreatitis and controls.
Weiss FU; Simon P; Bogdanova N; Mayerle J; Dworniczak B; Horst J; Lerch MM
Gut; 2005 Oct; 54(10):1456-60. PubMed ID: 15987793
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe.
Dörk T; Macek M; Mekus F; Tümmler B; Tzountzouris J; Casals T; Krebsová A; Koudová M; Sakmaryová I; Macek M; Vávrová V; Zemková D; Ginter E; Petrova NV; Ivaschenko T; Baranov V; Witt M; Pogorzelski A; Bal J; Zékanowsky C; Wagner K; Stuhrmann M; Bauer I; Seydewitz HH; Neumann T; Jakubiczka S
Hum Genet; 2000 Mar; 106(3):259-68. PubMed ID: 10798353
[TBL] [Abstract][Full Text] [Related]
20. Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosis.
Liu K; Xu W; Xiao M; Zhao X; Bian C; Zhang Q; Song J; Chen K; Tian X; Liu Y; Xu KF; Zhang X
Orphanet J Rare Dis; 2020 Jun; 15(1):150. PubMed ID: 32539862
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
