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Results: 1 to 20 of 1004

1.

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.

PMID:
15784035
[PubMed - indexed for MEDLINE]
2.

Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitis.

Sheth S, Shea JC, Bishop MD, Chopra S, Regan MM, Malmberg E, Walker C, Ricci R, Tsui LC, Durie PR, Zielenski J, Freedman SD.

Hum Genet. 2003 Aug;113(3):286-92. Epub 2003 Jun 3.

PMID:
12783301
[PubMed - indexed for MEDLINE]
3.

Cystic fibrosis transmembrane conductance regulator gene polymorphisms in patients with primary sclerosing cholangitis.

Henckaerts L, Jaspers M, Van Steenbergen W, Vliegen L, Fevery J, Nuytten H, Roskams T, Rutgeerts P, Cassiman JJ, Vermeire S, Cuppens H.

J Hepatol. 2009 Jan;50(1):150-7. doi: 10.1016/j.jhep.2008.07.033. Epub 2008 Oct 7.

PMID:
18992954
[PubMed - indexed for MEDLINE]
4.

Survey of cystic fibrosis transmembrane conductance regulator genotypes in primary sclerosing cholangitis.

McGill JM, Williams DM, Hunt CM.

Dig Dis Sci. 1996 Mar;41(3):540-2.

PMID:
8617131
[PubMed - indexed for MEDLINE]
5.

Cystic fibrosis transmembrane conductance regulator (CFTR) gene defects in patients with primary sclerosing cholangitis.

Girodon E, Sternberg D, Chazouillères O, Cazeneuve C, Huot D, Calmus Y, Poupon R, Goossens M, Housset C.

J Hepatol. 2002 Aug;37(2):192-7.

PMID:
12127423
[PubMed - indexed for MEDLINE]
6.

CF gene and cystic fibrosis transmembrane conductance regulator expression in autosomal dominant polycystic kidney disease.

Persu A, Devuyst O, Lannoy N, Materne R, Brosnahan G, Gabow PA, Pirson Y, Verellen-Dumoulin C.

J Am Soc Nephrol. 2000 Dec;11(12):2285-96.

PMID:
11095651
[PubMed - indexed for MEDLINE]
Free Article
7.

Application of multiplex ARMS and SSCP/HD analysis in molecular diagnosis of cystic fibrosis in Indian patients.

Ashavaid TF, Kondkar AA, Dherai AJ, Raghavan R, Udani SV, Udwadia ZF, Desai D.

Mol Diagn. 2005;9(2):59-66.

PMID:
16137181
[PubMed - indexed for MEDLINE]
8.

Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: identification of novel cystic fibrosis transmembrane conductance regulator and epithelial sodium channel gene variants.

Mutesa L, Azad AK, Verhaeghe C, Segers K, Vanbellinghen JF, Ngendahayo L, Rusingiza EK, Mutwa PR, Rulisa S, Koulischer L, Cassiman JJ, Cuppens H, Bours V.

Chest. 2009 May;135(5):1233-42. doi: 10.1378/chest.08-2246. Epub 2008 Nov 18.

PMID:
19017867
[PubMed - indexed for MEDLINE]
9.

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
10.

Mutation in the gene responsible for cystic fibrosis and predisposition to chronic rhinosinusitis in the general population.

Wang X, Moylan B, Leopold DA, Kim J, Rubenstein RC, Togias A, Proud D, Zeitlin PL, Cutting GR.

JAMA. 2000 Oct 11;284(14):1814-9.

PMID:
11025834
[PubMed - indexed for MEDLINE]
11.

Prospective analysis of cystic fibrosis transmembrane regulator mutations in adults with bronchiectasis or pulmonary nontuberculous mycobacterial infection.

Ziedalski TM, Kao PN, Henig NR, Jacobs SS, Ruoss SJ.

Chest. 2006 Oct;130(4):995-1002.

PMID:
17035430
[PubMed - indexed for MEDLINE]
13.

The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis.

Bishop MD, Freedman SD, Zielenski J, Ahmed N, Dupuis A, Martin S, Ellis L, Shea J, Hopper I, Corey M, Kortan P, Haber G, Ross C, Tzountzouris J, Steele L, Ray PN, Tsui LC, Durie PR.

Hum Genet. 2005 Dec;118(3-4):372-81. Epub 2005 Sep 29.

PMID:
16193325
[PubMed - indexed for MEDLINE]
14.

Genotype-phenotype relationship for five CFTR mutations frequently identified in western France.

Duguépéroux I, De Braekeleer M; Participating Centres to the French National Cystic Fibrosis Registry.

J Cyst Fibros. 2004 Dec;3(4):259-63.

PMID:
15698945
[PubMed - indexed for MEDLINE]
Free Article
15.

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]
16.

Primary sclerosing cholangitis in childhood is associated with abnormalities in cystic fibrosis-mediated chloride channel function.

Pall H, Zielenski J, Jonas MM, DaSilva DA, Potvin KM, Yuan XW, Huang Q, Freedman SD.

J Pediatr. 2007 Sep;151(3):255-9. Epub 2007 Jul 24.

PMID:
17719933
[PubMed - indexed for MEDLINE]
17.

[Cystic fibrosis transmembrane conductance regulator (CFTR) gene: mutations and clinical phenotypes].

Schwartz M.

Ugeskr Laeger. 2003 Feb 24;165(9):912-6. Review. Danish.

PMID:
12661515
[PubMed - indexed for MEDLINE]
18.

Molecular analysis of the IVS8-T splice variant 5T and M470V exon 10 missense polymorphism in Iranian males with congenital bilateral absence of the vas deferens.

Radpour R, Gilani MA, Gourabi H, Dizaj AV, Mollamohamadi S.

Mol Hum Reprod. 2006 Jul;12(7):469-73. Epub 2006 May 19.

PMID:
16714368
[PubMed - indexed for MEDLINE]
Free Article
19.

Novel association of HLA-haplotypes with primary sclerosing cholangitis (PSC) in a southern European population.

Neri TM, Cavestro GM, Seghini P, Zanelli PF, Zanetti A, Savi M, Podda M, Zuin M, Colombo M, Floreani A, Rosina F, Bianchi Porro G, Strazzabosco M, Okolicsanyi L.

Dig Liver Dis. 2003 Aug;35(8):571-6.

PMID:
14567462
[PubMed - indexed for MEDLINE]
20.

The study of cystic fibrosis transmembrane conductance regulator gene mutations in a group of patients from Romania.

Frenţescu L, Brownsell E, Hinks J, Malone G, Shaw H, Budişan L, Bulman M, Schwarz M, Pop L, Filip M, Tomescu E, Moşescu S, Popa I, Benga G.

J Cyst Fibros. 2008 Sep;7(5):423-8. doi: 10.1016/j.jcf.2008.03.004. Epub 2008 May 7.

PMID:
18467194
[PubMed - indexed for MEDLINE]
Free Article

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