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Items: 1 to 20 of 103

1.

Screening Young syndrome patients for CFTR mutations.

Friedman KJ, Teichtahl H, De Kretser DM, Temple-Smith P, Southwick GJ, Silverman LM, Highsmith WE Jr, Boucher RC, Knowles MR.

Am J Respir Crit Care Med. 1995 Oct;152(4 Pt 1):1353-7.

PMID:
7551394
2.

[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.

3.

Cystic fibrosis mutation screening in CBAVD patients and men with obstructive azoospermia or severe oligozoospermia.

Kanavakis E, Tzetis M, Antoniadi T, Pistofidis G, Milligos S, Kattamis C.

Mol Hum Reprod. 1998 Apr;4(4):333-7.

PMID:
9620832
4.

CFTR genotype and clinical outcomes of adult patients carried as cystic fibrosis disease.

Bonadia LC, de Lima Marson FA, Ribeiro JD, Paschoal IA, Pereira MC, Ribeiro AF, Bertuzzo CS.

Gene. 2014 May 1;540(2):183-90. doi: 10.1016/j.gene.2014.02.040. Epub 2014 Feb 26.

PMID:
24583165
5.

Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected.

Casals T, Bassas L, Ruiz-Romero J, Chillón M, Giménez J, Ramos MD, Tapia G, Narváez H, Nunes V, Estivill X.

Hum Genet. 1995 Feb;95(2):205-11.

PMID:
7532150
6.

Mutations in CFTR gene and clinical correlation in Argentine patients with congenital bilateral absence of the vas deferens.

Levy EM, Granados P, Rawe V, Olmedo SB, Luna MC, Cafferata E, Pivetta OH.

Medicina (B Aires). 2004;64(3):213-8.

PMID:
15239534
7.

Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens.

De Braekeleer M, Férec C.

Mol Hum Reprod. 1996 Sep;2(9):669-77. Review.

PMID:
9239681
8.

Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens.

Dörk T, Dworniczak B, Aulehla-Scholz C, Wieczorek D, Böhm I, Mayerova A, Seydewitz HH, Nieschlag E, Meschede D, Horst J, Pander HJ, Sperling H, Ratjen F, Passarge E, Schmidtke J, Stuhrmann M.

Hum Genet. 1997 Sep;100(3-4):365-77.

PMID:
9272157
9.

The role of the F508C mutation in congenital bilateral absence of the vas deferens.

Havasi V, Keiles S, Hambuch T, Sorscher EJ, Kammesheidt A.

Genet Med. 2008 Dec;10(12):910-4. doi: 10.1097/GIM.0b013e31818e594d.

PMID:
19092444
10.

Mutation frequency of cystic fibrosis transmembrane regulator is not increased in oligozoospermic male candidates for intracytoplasmic sperm injection.

Tuerlings JH, Mol B, Kremer JA, Looman M, Meuleman EJ, te Meerman GJ, Buys CH, Merkus HM, Scheffer H.

Fertil Steril. 1998 May;69(5):899-903.

PMID:
9591500
11.

Two novel missense and one novel nonsense CFTR mutations in Iranian males with congenital bilateral absence of the vas deferens.

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

Mol Hum Reprod. 2006 Nov;12(11):717-21. Epub 2006 Sep 14.

PMID:
16973827
12.

Association of cystic fibrosis transmembrane-conductance regulator gene mutation with negative outcome of intracytoplasmic sperm injection pregnancy in cases of congenital bilateral absence of vas deferens.

Lu S, Cui Y, Li X, Zhang H, Liu J, Kong B, Cai F, Chen ZJ.

Fertil Steril. 2014 May;101(5):1255-60. doi: 10.1016/j.fertnstert.2014.01.033. Epub 2014 Feb 19.

PMID:
24559724
14.

[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
15.

Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens.

Wu CC, Alper OM, Lu JF, Wang SP, Guo L, Chiang HS, Wong LJ.

Hum Reprod. 2005 Sep;20(9):2470-5. Epub 2005 May 19.

PMID:
15905293
16.

A cystic fibrosis transmembrane conductance regulator splice variant with partial penetrance associated with variable cystic fibrosis presentations.

Kerem E, Rave-Harel N, Augarten A, Madgar I, Nissim-Rafinia M, Yahav Y, Goshen R, Bentur L, Rivlin J, Aviram M, Genem A, Chiba-Falek O, Kraemer MR, Simon A, Branski D, Kerem B.

Am J Respir Crit Care Med. 1997 Jun;155(6):1914-20.

PMID:
9196095
17.

Cystic fibrosis mutation screening in healthy men with reduced sperm quality.

van der Ven K, Messer L, van der Ven H, Jeyendran RS, Ober C.

Hum Reprod. 1996 Mar;11(3):513-7.

PMID:
8671256
18.

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.

Claustres M, Guittard C, Bozon D, Chevalier F, Verlingue C, Ferec C, Girodon E, Cazeneuve C, Bienvenu T, Lalau G, Dumur V, Feldmann D, Bieth E, Blayau M, Clavel C, Creveaux I, Malinge MC, Monnier N, Malzac P, Mittre H, Chomel JC, Bonnefont JP, Iron A, Chery M, Georges MD.

Hum Mutat. 2000;16(2):143-56.

PMID:
10923036
19.

Mutations of the CFTR gene in Turkish patients with congenital bilateral absence of the vas deferens.

Dayangaç D, Erdem H, Yilmaz E, Sahin A, Sohn C, Ozgüç M, Dörk T.

Hum Reprod. 2004 May;19(5):1094-100. Epub 2004 Apr 7.

PMID:
15070876
20.

Genetic, andrological and clinical characteristics of patients with congenital bilateral absence of the vas deferens.

Attardo T, Vicari E, Mollica F, Grazioso C, Burrello N, Garofalo MR, Lizzio MN, Garigali G, Cannizzaro M, Ruvolo G, D'Agata R, Calogero AE.

Int J Androl. 2001 Apr;24(2):73-9.

PMID:
11298840

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