Literature DB >> 8834261

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

P Jézéquel, B Chauvel, A Le Treut, J Y Le Gall, V David, D Le Lannou, M Blayau.   

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Year:  1996        PMID： 8834261     DOI： 10.1007/bf02267085

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


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  11 in total

1.  Cystic fibrosis and congenital absence of the vas deferens.

Authors:  J M Rigot; J J Lafitte; V Dumur; R Gervais; S Manouvrier; J Biserte; E Mazeman; P Roussel
Journal:  N Engl J Med       Date:  1991-07-04       Impact factor: 91.245

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

Authors:  V Dumur; R Gervais; J M Rigot; J J Lafitte; S Manouvrier; J Biserte; E Mazeman; P Roussel
Journal:  Lancet       Date:  1990-08-25       Impact factor: 79.321

3.  Structural analysis of CFTR gene in congenital bilateral absence of vas deferens.

Authors:  P Jézéquel; I Dorval; P Fergelot; B Chauvel; A Le Treut; J Y Le Gall; D Le Lannou; M Blayau
Journal:  Clin Chem       Date:  1995-06       Impact factor: 8.327

4.  Reproductive failure in males with cystic fibrosis.

Authors:  E Kaplan; H Shwachman; A D Perlmutter; A Rule; K T Khaw; D S Holsclaw
Journal:  N Engl J Med       Date:  1968-07-11       Impact factor: 91.245

5.  A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations.

Authors:  B Costes; P Fanen; M Goossens; N Ghanem
Journal:  Hum Mutat       Date:  1993       Impact factor: 4.878

6.  Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis.

Authors:  A Anguiano; R D Oates; J A Amos; M Dean; B Gerrard; C Stewart; T A Maher; M B White; A Milunsky
Journal:  JAMA       Date:  1992-04-01       Impact factor: 56.272

7.  Congenital mesonephric defects in male infants with mucoviscidosis.

Authors:  J R Olson; D K Weaver
Journal:  J Clin Pathol       Date:  1969-11       Impact factor: 3.411

8.  Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens.

Authors:  J F Culard; M Desgeorges; P Costa; M Laussel; G Razakatzara; H Navratil; J Demaille; M Claustres
Journal:  Hum Genet       Date:  1994-04       Impact factor: 4.132

9.  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

10.  Obstructive azoospermia with agenesis of vas deferens or with bronchiectasia (Young's syndrome): a genetic approach.

Authors:  D Le Lannou; P Jezequel; M Blayau; I Dorval; P Lemoine; A Dabadie; M Roussey; B Le Marec; J Y Legall
Journal:  Hum Reprod       Date:  1995-02       Impact factor: 6.918
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