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Results: 1 to 20 of 3155

1.

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]
2.

Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.

Azad AK, Rauh R, Vermeulen F, Jaspers M, Korbmacher J, Boissier B, Bassinet L, Fichou Y, des Georges M, Stanke F, De Boeck K, Dupont L, Balascáková M, Hjelte L, Lebecque P, Radojkovic D, Castellani C, Schwartz M, Stuhrmann M, Schwarz M, Skalicka V, de Monestrol I, Girodon E, Férec C, Claustres M, Tümmler B, Cassiman JJ, Korbmacher C, Cuppens H.

Hum Mutat. 2009 Jul;30(7):1093-103. doi: 10.1002/humu.21011.

PMID:
19462466
[PubMed - indexed for MEDLINE]
3.

ENaCbeta and gamma genes as modifier genes in cystic fibrosis.

Viel M, Leroy C, Hubert D, Fajac I, Bienvenu T.

J Cyst Fibros. 2008 Jan;7(1):23-9. Epub 2007 Jun 7.

PMID:
17560176
[PubMed - indexed for MEDLINE]
Free Article
4.

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
6.

The TNFalpha receptor TNFRSF1A and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in cystic fibrosis.

Stanke F, Becker T, Cuppens H, Kumar V, Cassiman JJ, Jansen S, Radojkovic D, Siebert B, Yarden J, Ussery DW, Wienker TF, Tümmler B.

Hum Genet. 2006 Apr;119(3):331-43. Epub 2006 Feb 4.

PMID:
16463024
[PubMed - indexed for MEDLINE]
7.

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]
8.

A mutation of the epithelial sodium channel associated with atypical cystic fibrosis increases channel open probability and reduces Na+ self inhibition.

Rauh R, Diakov A, Tzschoppe A, Korbmacher J, Azad AK, Cuppens H, Cassiman JJ, Dötsch J, Sticht H, Korbmacher C.

J Physiol. 2010 Apr 15;588(Pt 8):1211-25. doi: 10.1113/jphysiol.2009.180224. Epub 2010 Mar 1.

PMID:
20194130
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling.

Le Maréchal C, Audrézet MP, Quéré I, Raguénès O, Langonné S, Férec C.

Hum Genet. 2001 Apr;108(4):290-8.

PMID:
11379874
[PubMed - indexed for MEDLINE]
10.

Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%.

Macek M Jr, Mackova A, Hamosh A, Hilman BC, Selden RF, Lucotte G, Friedman KJ, Knowles MR, Rosenstein BJ, Cutting GR.

Am J Hum Genet. 1997 May;60(5):1122-7.

PMID:
9150159
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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]
12.

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
13.

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]
14.

Functional characterization of a partial loss-of-function mutation of the epithelial sodium channel (ENaC) associated with atypical cystic fibrosis.

Huber R, Krueger B, Diakov A, Korbmacher J, Haerteis S, Einsiedel J, Gmeiner P, Azad AK, Cuppens H, Cassiman JJ, Korbmacher C, Rauh R.

Cell Physiol Biochem. 2010;25(1):145-58. doi: 10.1159/000272059. Epub 2009 Dec 22.

PMID:
20054153
[PubMed - indexed for MEDLINE]
15.

[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]
16.

[Mutations and polymorphisms in CFTR genes in infertile men with oligospermia or azoospermia].

Kusić J, Radojković D, Maletić V, Branković S, Savić A.

Srp Arh Celok Lek. 2002 Jan-Feb;130(1-2):1-6. Serbian.

PMID:
12073281
[PubMed - indexed for MEDLINE]
17.

CFTR Cl- channel function in native human colon correlates with the genotype and phenotype in cystic fibrosis.

Hirtz S, Gonska T, Seydewitz HH, Thomas J, Greiner P, Kuehr J, Brandis M, Eichler I, Rocha H, Lopes AI, Barreto C, Ramalho A, Amaral MD, Kunzelmann K, Mall M.

Gastroenterology. 2004 Oct;127(4):1085-95.

PMID:
15480987
[PubMed - indexed for MEDLINE]
18.

[Identification of mutation in the gene cystic fibrosis transmembrane regulator (CFTR) in Chilean patients with cystic fibrosis].

Repetto G, Poggi H, Harris P, Navarro H, Sánchez I, Guiraldes E, Pérez MA, Boza ML, Hunter B, Wevar ME, Mediavilla M, Foradori A.

Rev Med Chil. 2001 Aug;129(8):841-7. Spanish.

PMID:
11680956
[PubMed - indexed for MEDLINE]
19.

Association of cystic fibrosis transmembrane conductance regulator (CFTR) mutation/variant/haplotype and tumor necrosis factor (TNF) promoter polymorphism in hyperlipidemic pancreatitis.

Chang YT, Chang MC, Su TC, Liang PC, Su YN, Kuo CH, Wei SC, Wong JM.

Clin Chem. 2008 Jan;54(1):131-8. Epub 2007 Nov 2.

PMID:
17981921
[PubMed - indexed for MEDLINE]
Free Article
20.

Functional characterization of a novel CFTR mutation P67S identified in a patient with atypical cystic fibrosis.

Kraus C, Reis A, Naehrlich L, Dötsch J, Korbmacher C, Rauh R.

Cell Physiol Biochem. 2007;19(5-6):239-48.

PMID:
17495464
[PubMed - indexed for MEDLINE]

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