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Results: 1 to 20 of 95

1.

Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4-11.

Neocleous V, Yiallouros PK, Tanteles GA, Costi C, Moutafi M, Ioannou P, Patsalis PC, Sismani C, Phylactou LA.

Case Rep Genet. 2014;2014:613863. doi: 10.1155/2014/613863. Epub 2014 Feb 6.

PMID:
24649380
[PubMed]
Free PMC Article
2.

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 10;497(1):90-2. doi: 10.1016/j.gene.2012.01.061. Epub 2012 Jan 31.

PMID:
22310382
[PubMed - indexed for MEDLINE]
3.

Apparent homozygosity of a novel frame shift mutation in the CFTR gene because of a large deletion.

Hantash FM, Rebuyon A, Peng M, Redman JB, Sun W, Strom CM.

J Mol Diagn. 2009 May;11(3):253-6. doi: 10.2353/jmoldx.2009.080117. Epub 2009 Mar 26.

PMID:
19324987
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Uniparental inheritance of microsatellite alleles of the cystic fibrosis gene (CFTR): identification of a 50 kilobase deletion.

Morral N, Nunes V, Casals T, Cobos N, Asensio O, Dapena J, Estivill X.

Hum Mol Genet. 1993 Jun;2(6):677-81.

PMID:
7689007
[PubMed - indexed for MEDLINE]
5.

Severe phenotype in an apparent homozygosity caused by a large deletion in the CFTR gene: a case report.

Martins Rda S, Fonseca AC, Acosta FE, Folescu TW, Higa LY, Sad IR, Chaves CR, Cabello PH, Cabello GM.

BMC Res Notes. 2014 Aug 30;7:583. doi: 10.1186/1756-0500-7-583.

PMID:
25176415
[PubMed - in process]
Free PMC Article
6.

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. doi: 10.2353/jmoldx.2008.080004. Epub 2008 Jun 13.

PMID:
18556774
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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. doi: 10.1038/jhg.2012.46. Epub 2012 May 10.

PMID:
22572733
[PubMed - indexed for MEDLINE]
8.

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. Epub 2005 Dec 17. Erratum in: Hum Genet. 2006 Apr;119(3):352.

PMID:
16362824
[PubMed - indexed for MEDLINE]
9.

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 Jr, Mekus F, Tümmler B, Tzountzouris J, Casals T, Krebsová A, Koudová M, Sakmaryová I, Macek M Sr, 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.

PMID:
10798353
[PubMed - indexed for MEDLINE]
10.

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. doi: 10.3346/jkms.2008.23.5.912.

PMID:
18955805
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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.

PMID:
17594397
[PubMed - indexed for MEDLINE]
12.

Rare large homozygous CFTR gene deletion in an Iranian patient with cystic fibrosis.

Farjadian S, Moghtaderi M, Zuntini R, Ferrari S.

World J Clin Cases. 2014 Aug 16;2(8):395-7. doi: 10.12998/wjcc.v2.i8.395.

PMID:
25133155
[PubMed]
Free PMC Article
13.

Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples.

McGinniss MJ, Chen C, Redman JB, Buller A, Quan F, Peng M, Giusti R, Hantash FM, Huang D, Sun W, Strom CM.

Hum Genet. 2005 Dec;118(3-4):331-8. Epub 2005 Sep 28.

PMID:
16189704
[PubMed - indexed for MEDLINE]
14.

A novel missense mutation P1290S at exon-20 of the CFTR gene in a Portuguese patient with congenital bilateral absence of the vas deferens.

Grangeia A, Carvalho F, Fernandes S, Silva J, Sousa M, Barros A.

Fertil Steril. 2005 Feb;83(2):448-51.

PMID:
15705389
[PubMed - indexed for MEDLINE]
15.

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. Epub 2007 Jul 27.

PMID:
17662673
[PubMed - indexed for MEDLINE]
Free Article
16.

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. Epub 2005 Jun 29.

PMID:
15987793
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Poly thymidine polymorphism and cystic fibrosis in a non-Caucasian population.

Tabaripour R, Niaki HA, Douki MR, Bazzaz JT, Larijani B, Yaghmaei P.

Dis Markers. 2012;32(4):241-6. doi: 10.3233/DMA-2011-0880.

PMID:
22430190
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Identification of a nonframeshift 84-bp deletion in exon 13 of the cystic fibrosis gene.

Granell R, Solera J, Carrasco S, Molano J.

Am J Hum Genet. 1992 May;50(5):1022-6.

PMID:
1373934
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Segregation analysis in cystic fibrosis at-risk family demonstrates that the M348K CFTR mutation is a rare innocuous polymorphism.

D'Apice MR, Gambardella S, Russo S, Lucidi V, Nardone AM, Pietropolli A, Novelli G.

Prenat Diagn. 2004 Dec 15;24(12):981-3.

PMID:
15614862
[PubMed - indexed for MEDLINE]

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