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Items: 1 to 20 of 288

1.

CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders.

Thauvin-Robinet C, Munck A, Huet F, de Becdelièvre A, Jimenez C, Lalau G, Gautier E, Rollet J, Flori J, Nové-Josserand R, Soufir JC, Haloun A, Hubert D, Houssin E, Bellis G, Rault G, David A, Janny L, Chiron R, Rives N, Hairion D, Collignon P, Valeri A, Karsenty G, Rossi A, Audrézet MP, Férec C, Leclerc J, Georges Md, Claustres M, Bienvenu T, Gérard B, Boisseau P, Cabet-Bey F, Cheillan D, Feldmann D, Clavel C, Bieth E, Iron A, Simon-Bouy B, Izard V, Steffann J, Viville S, Costa C, Drouineaud V, Fauque P, Binquet C, Bonithon-Kopp C, Morris MA, Faivre L, Goossens M, Roussey M, Girodon E; collaborating working group on p.Arg117His.

J Med Genet. 2013 Apr;50(4):220-7. doi: 10.1136/jmedgenet-2012-101427. Epub 2013 Feb 1.

PMID:
23378603
2.

Cystic fibrosis and infertility caused by congenital bilateral absence of the vas deferens and related clinical entities.

Lissens W, Mercier B, Tournaye H, Bonduelle M, Férec C, Seneca S, Devroey P, Silber S, Van Steirteghem A, Liebaers I.

Hum Reprod. 1996 Dec;11 Suppl 4:55-78; discussion 79-80. Review.

PMID:
9147111
3.

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
4.

Heterogeneous spectrum of mutations in CFTR gene from Indian patients with congenital absence of the vas deferens and their association with cystic fibrosis genetic modifiers.

Sharma H, Mavuduru RS, Singh SK, Prasad R.

Mol Hum Reprod. 2014 Sep;20(9):827-35. doi: 10.1093/molehr/gau047. Epub 2014 Jun 23.

PMID:
24958810
5.

Cystic fibrosis transmembrane conductance regulator (CFTR) gene abnormalities in Indian males with congenital bilateral absence of vas deferens & renal anomalies.

Gajbhiye R, Kadam K, Khole A, Gaikwad A, Kadam S, Shah R, Kumaraswamy R, Khole V.

Indian J Med Res. 2016 May;143(5):616-23. doi: 10.4103/0971-5916.187110.

6.

p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study.

René C, Paulet D, Girodon E, Costa C, Lalau G, Leclerc J, Cabet-Bey F, Bienvenu T, Blayau M, Iron A, Mittre H, Feldmann D, Guittard C, Claustres M, Georges Md.

Eur J Hum Genet. 2011 Jan;19(1):36-42. doi: 10.1038/ejhg.2010.137. Epub 2010 Aug 18.

7.

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
8.

The genetics of male infertility in relation to cystic fibrosis.

Lissens W, Liebaers I.

Baillieres Clin Obstet Gynaecol. 1997 Dec;11(4):797-817. Review.

PMID:
9692018
9.

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
10.

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
11.

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
12.

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
13.

Nasal epithelial ion transport and genetic analysis of infertile men with congenital bilateral absence of the vas deferens.

Osborne LR, Lynch M, Middleton PG, Alton EW, Geddes DM, Pryor JP, Hodson ME, Santis GK.

Hum Mol Genet. 1993 Oct;2(10):1605-9. Erratum in: Hum Mol Genet 1993 Nov;2(11):1990.

PMID:
7505692
14.

CFTR mutations in men with congenital bilateral absence of the vas deferens (CBAVD): a systemic review and meta-analysis.

Yu J, Chen Z, Ni Y, Li Z.

Hum Reprod. 2012 Jan;27(1):25-35. doi: 10.1093/humrep/der377. Epub 2011 Nov 10. Review.

PMID:
22081250
15.

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
16.

Increased frequency of CFTR gene mutations identified in Indian infertile men with non-CBAVD obstructive azoospermia and spermatogenic failure.

Sharma H, Mavuduru RS, Singh SK, Prasad R.

Gene. 2014 Sep 10;548(1):43-7. doi: 10.1016/j.gene.2014.07.005. Epub 2014 Jul 7.

PMID:
25010724
17.

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
18.

A novel missense mutation P1290S at exon-20 of the CFTR gene in a Portuguese patient with congenital bilateral absence of the vas deferens.

Grangeia A, Carvalho F, Fernandes S, Silva J, Sousa M, Barros A.

Fertil Steril. 2005 Feb;83(2):448-51.

PMID:
15705389
19.

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
20.

CFTR mutations and polymorphisms in male infertility.

Cuppens H, Cassiman JJ.

Int J Androl. 2004 Oct;27(5):251-6. Review.

PMID:
15379964

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