Literature DB >> 2046716

Cystic fibrosis and congenital absence of the vas deferens.

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

Abstract

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Year:  1991        PMID： 2046716     DOI： 10.1056/NEJM199107043250116

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  7 in total

1.  Cystic fibrosis genotypes and views on screening are both heterogeneous and population related.

Authors:  C R Scriver; T M Fujiwara
Journal:  Am J Hum Genet       Date:  1992-11       Impact factor: 11.025

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.  Effectiveness of in vitro fertilization with intracytoplasmic sperm injection for severe male infertility.

Authors:  R C Pinheiro; J Lambert; F Bénard; F Mauffette; P Miron
Journal:  CMAJ       Date:  1999-11-30       Impact factor: 8.262

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.

Authors:  T Casals; L Bassas; J Ruiz-Romero; M Chillón; J Giménez; M D Ramos; G Tapia; H Narváez; V Nunes; X Estivill
Journal:  Hum Genet       Date:  1995-02       Impact factor: 4.132

6.  Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.

Authors:  B Mercier; C Verlingue; W Lissens; S J Silber; G Novelli; M Bonduelle; M P Audrézet; C Férec
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025

7.  A change in gating mode leading to increased intrinsic Cl- channel activity compensates for defective processing in a cystic fibrosis mutant corresponding to a mild form of the disease.

Authors:  G Champigny; J L Imler; E Puchelle; W Dalemans; V Gribkoff; J Hinnrasky; K Dott; P Barbry; A Pavirani; M Lazdunski
Journal:  EMBO J       Date:  1995-06-01       Impact factor: 11.598
  7 in total

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