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Items: 1 to 20 of 85

1.

Identification of a novel 5' alternative CFTR mRNA isoform in a patient with nasal polyposis and CFTR mutations.

Hinzpeter A, de Becdelièvre A, Bieth E, Gameiro C, Brémont F, Martin N, Costes B, Costa C, Aissat A, Lorot A, Prulière-Escabasse V, Goossens M, Fanen P, Girodon E.

Hum Mutat. 2014 Jul;35(7):805-8. doi: 10.1002/humu.22548. Epub 2014 Apr 9.

2.

Cystic fibrosis transmembrane conductance regulator gene mutations in severe nasal polyposis.

Irving RM, McMahon R, Clark R, Jones NS.

Clin Otolaryngol Allied Sci. 1997 Dec;22(6):519-21.

PMID:
9466061
3.

The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR alleles.

Steiner B, Truninger K, Sanz J, Schaller A, Gallati S.

Hum Mutat. 2004 Aug;24(2):120-9.

PMID:
15241793
4.

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.

PMID:
10425036
5.

Cardiac expression of the cystic fibrosis transmembrane conductance regulator involves novel exon 1 usage to produce a unique amino-terminal protein.

Davies WL, Vandenberg JI, Sayeed RA, Trezise AE.

J Biol Chem. 2004 Apr 16;279(16):15877-87. Epub 2004 Jan 30.

6.

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
7.
8.

A mutation in the cystic fibrosis transmembrane conductance regulator gene associated with elevated sweat chloride concentrations in the absence of cystic fibrosis.

Mickle JE, Macek M Jr, Fulmer-Smentek SB, Egan MM, Schwiebert E, Guggino W, Moss R, Cutting GR.

Hum Mol Genet. 1998 Apr;7(4):729-35.

PMID:
9499426
10.

Variant cystic fibrosis phenotypes in the absence of CFTR mutations.

Groman JD, Meyer ME, Wilmott RW, Zeitlin PL, Cutting GR.

N Engl J Med. 2002 Aug 8;347(6):401-7.

12.

Analysis of CFTR transcripts in nasal epithelial cells and lymphoblasts of a cystic fibrosis patient with 621 + 1G-->T and 711 + 1G-->T mutations.

Zielenski J, Bozon D, Markiewicz D, Aubin G, Simard F, Rommens JM, Tsui LC.

Hum Mol Genet. 1993 Jun;2(6):683-7.

PMID:
7689008
13.

Identification of a splice site mutation (2789 +5 G > A) associated with small amounts of normal CFTR mRNA and mild cystic fibrosis.

Highsmith WE Jr, Burch LH, Zhou Z, Olsen JC, Strong TV, Smith T, Friedman KJ, Silverman LM, Boucher RC, Collins FS, Knowles MR.

Hum Mutat. 1997;9(4):332-8.

PMID:
9101293
14.

Identification of novel mutations of the CFTR gene in a Japanese patient with cystic fibrosis.

Seki K, Abo W, Yamamoto Y, Matsuura A.

Tohoku J Exp Med. 1999 Apr;187(4):323-8.

15.
16.
17.

Fine characterization of the recurrent c.1584+18672A>G deep-intronic mutation in the cystic fibrosis transmembrane conductance regulator gene.

Costantino L, Rusconi D, Soldà G, Seia M, Paracchini V, Porcaro L, Asselta R, Colombo C, Duga S.

Am J Respir Cell Mol Biol. 2013 May;48(5):619-25. doi: 10.1165/rcmb.2012-0371OC.

PMID:
23349053
18.

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.

19.

Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients.

Will K, Dörk T, Stuhrmann M, von der Hardt H, Ellemunter H, Tümmler B, Schmidtke J.

Hum Mutat. 1995;5(3):210-20.

PMID:
7541274
20.

Expression of an abundant alternatively spliced form of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is not associated with a cAMP-activated chloride conductance.

Strong TV, Wilkinson DJ, Mansoura MK, Devor DC, Henze K, Yang Y, Wilson JM, Cohn JA, Dawson DC, Frizzell RA, et al.

Hum Mol Genet. 1993 Mar;2(3):225-30.

PMID:
7684641

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