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Items: 1 to 20 of 88

1.

Characterization of a novel isolated deletion of the exon 3 within the CFTR gene: Relevance for phenotypic expression and genetic counseling.

Tomaiuolo AC, Sirleto P, Centrone C, Surace C, Alghisi F, Petrocchi S, Lombardo A, Rossi M, Torricelli F, Lucidi V, Angioni A.

Clin Biochem. 2011 Jul;44(10-11):799-803. doi: 10.1016/j.clinbiochem.2011.03.140. Epub 2011 Apr 22.

PMID:
21536020
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. Epub 2007 Jul 27.

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

4.

In-frame elimination of exon 10 in Cftrtm1Unc CF mice.

Xu Z, Gupta V, Lei D, Holmes A, Carlson E, Gruenert DC.

Gene. 1998 Apr 28;211(1):117-23.

PMID:
9573345
5.

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.

PMID:
11462248
6.

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
7.

Exon 9 of the CFTR gene: splice site haplotypes and cystic fibrosis mutations.

Dörk T, Fislage R, Neumann T, Wulf B, Tümmler B.

Hum Genet. 1994 Jan;93(1):67-73.

PMID:
7505767
8.

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
9.

Detection of F508del mutation in cystic fibrosis transmembrane conductance regulator gene mutation among Malays.

Zilfalil BA, Sarina S, Liza-Sharmini AT, Oldfield NJ, Stenhouse SA.

Singapore Med J. 2006 Feb;47(2):129-33.

10.

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
11.

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
12.
13.

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.

14.
15.

Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Strong TV, Smit LS, Nasr S, Wood DL, Cole JL, Iannuzzi MC, Stern RC, Collins FS.

Hum Mutat. 1992;1(5):380-7.

16.

A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements.

Taulan M, Guittard C, Theze C, Claustres M, Georges Md.

Eur J Hum Genet. 2009 Dec;17(12):1683-7. doi: 10.1038/ejhg.2009.73. Epub 2009 May 13.

17.

Identification of 12 novel mutations in the CFTR gene.

Audrézet MP, Mercier B, Guillermit H, Quéré I, Verlingue C, Rault G, Férec C.

Hum Mol Genet. 1993 Jan;2(1):51-4. Erratum in: Hum Mol Genet 1993 Apr;2(4):496.

PMID:
7683952
18.
20.

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.

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