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Literature DB >> 1975022

Abnormal distribution of CF delta F508 allele in azoospermic men with congenital aplasia of epididymis and vas deferens.

V Dumur, R Gervais, J M Rigot, J J Lafitte, S Manouvrier, J Biserte, E Mazeman, P Roussel.

Abstract

Entities: Disease Mutation Species

Mesh：

Substances：

Year: 1990 PMID： 1975022 DOI： 10.1016/0140-6736(90)92066-q

Source DB: PubMed Journal: Lancet ISSN： 0140-6736 Impact factor: 79.321

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26 in total

Review 1. The cystic fibrosis transmembrane regulator gene and male infertility.

Authors: C Quinzii; C Castellani
Journal: J Endocrinol Invest Date: 2000-11 Impact factor: 4.256

2. Male infertility as the only presenting sign of cystic fibrosis when homozygous for the mild mutation R117H.

Authors: T Bienvenu; C Beldjord; M Adjiman; J C Kaplan
Journal: J Med Genet Date: 1993-09 Impact factor: 6.318

3. Identification of a novel mutation in CFTR gene exon 8 (L375F) in a CUAVD phenotype.

Authors: P Jézéquel; B Chauvel; A Le Treut; J Y Le Gall; V David; D Le Lannou; M Blayau
Journal: Hum Genet Date: 1996-04 Impact factor: 4.132

4. Reproductive and sexual health in adolescents with cystic fibrosis.

Authors: S M Sawyer
Journal: BMJ Date: 1996-11-02

5. CFTR gene variant for patients with congenital absence of vas deferens.

Authors: J Zielenski; P Patrizio; M Corey; B Handelin; D Markiewicz; R Asch; L C Tsui
Journal: Am J Hum Genet Date: 1995-10 Impact factor: 11.025

6. A report on CF carrier frequency among men with infertility owing to congenital absence of the vas deferens.

Authors: C Williams; E S Mayall; R Williamson; A Hirsh; H Cookson
Journal: J Med Genet Date: 1993-11 Impact factor: 6.318

Review 7. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

Authors: C Castellani; H Cuppens; M Macek; J J Cassiman; E Kerem; P Durie; E Tullis; B M Assael; C Bombieri; A Brown; T Casals; M Claustres; G R Cutting; E Dequeker; J Dodge; I Doull; P Farrell; C Ferec; E Girodon; M Johannesson; B Kerem; M Knowles; A Munck; P F Pignatti; D Radojkovic; P Rizzotti; M Schwarz; M Stuhrmann; M Tzetis; J Zielenski; J S Elborn
Journal: J Cyst Fibros Date: 2008-05 Impact factor: 5.482