PubMed

Frequency of cystic fibrosis transmembrane conductance regulator gene mutations and 5T allele in patients with allergic bronchopulmonary aspergillosis.

Marchand E, Verellen-Dumoulin C, Mairesse M, Delaunois L, Brancaleone P, Rahier JF, Vandenplas O.

Chest. 2001 Mar;119(3):762-7.PMID: 11243954 [PubMed - indexed for MEDLINE]Related articlesFree article

Genetic risk factors in infertile men with severe oligozoospermia and azoospermia.

Dohle GR, Halley DJ, Van Hemel JO, van den Ouwel AM, Pieters MH, Weber RF, Govaerts LC.

Hum Reprod. 2002 Jan;17(1):13-6.PMID: 11756355 [PubMed - indexed for MEDLINE]Related articlesFree article

Cystic Fibrosis testing among Arab-Americans.

Wei S, Feldman GL, Monaghan KG.

Genet Med. 2006 Apr;8(4):255-8.PMID: 16617247 [PubMed - indexed for MEDLINE]Related articles

CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype.

Sun W, Anderson B, Redman J, Milunsky A, Buller A, McGinniss MJ, Quan F, Anguiano A, Huang S, Hantash F, Strom C.

Genet Med. 2006 Jun;8(6):339-45.PMID: 16778595 [PubMed - indexed for MEDLINE]Related articles

Population screening for cystic fibrosis: knowledge and emotional consequences 18 months later.

Gordon C, Walpole I, Zubrick SR, Bower C.

Am J Med Genet A. 2003 Jul 15;120A(2):199-208.PMID: 12833400 [PubMed - indexed for MEDLINE]Related articles

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]Related articles

Genetic counseling after implementation of statewide cystic fibrosis newborn screening: Two years' experience in one medical center.

Wheeler PG, Smith R, Dorkin H, Parad RB, Comeau AM, Bianchi DW.

Genet Med. 2001 Nov-Dec;3(6):411-5.PMID: 11715005 [PubMed - indexed for MEDLINE]Related articles

Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling.

Ratbi I, Legendre M, Niel F, Martin J, Soufir JC, Izard V, Costes B, Costa C, Goossens M, Girodon E.

Hum Reprod. 2007 May;22(5):1285-91. Epub 2007 Feb 28.PMID: 17329263 [PubMed - indexed for MEDLINE]Related articlesFree article

XV-2c/KM19 haplotypes analysis of cystic fibrosis patients from western Mexico.

Flores-Martínez SE, Martínez JF, Machorro-Lazo MV, García-Zapién AG, Salgado-Goytia L, Cruz-Quevedo EG, Morán-Moguel MC, Sánchez-Corona J.

Acta Physiol Hung. 2008 Sep;95(3):313-25.PMID: 18788470 [PubMed - indexed for MEDLINE]Related articles

Molecular analysis of mutations and polymorphisms in the CFTR gene in male infertility.

Tamburino L, Guglielmino A, Venti E, Chamayou S.

Reprod Biomed Online. 2008 Jul;17(1):27-35.PMID: 18616886 [PubMed - indexed for MEDLINE]Related articles

Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients.

Alper OM, Wong LJ, Young S, Pearl M, Graham S, Sherwin J, Nussbaum E, Nielson D, Platzker A, Davies Z, Lieberthal A, Chin T, Shay G, Hardy K, Kharrazi M.

Hum Mutat. 2004 Oct;24(4):353. Erratum in: Hum Mutat. 2005 Feb;25(2):223. PMID: 15365999 [PubMed - indexed for MEDLINE]Related articles

[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]Related articles

Novel CFTR missense mutations in Brazilian patients with congenital absence of vas deferens: counseling issues.

Pieri Pde C, Missaglia MT, Roque Jde A, Moreira-Filho CA, Hallak J.

Clinics (Sao Paulo). 2007 Aug;62(4):385-90.PMID: 17823699 [PubMed - indexed for MEDLINE]Related articlesFree article

Cystic fibrosis: S158N (605G --> A) is a rare genetic variant found in coupling with deltaF508.

Hicks K, Beadling W, Shrimpton AE.

Genet Test. 2003 Spring;7(1):73-6.PMID: 12820707 [PubMed - indexed for MEDLINE]Related articles