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

2005 ◽  
Vol 20 (9) ◽  
pp. 2470-2475 ◽  
Author(s):  
Chien-Chih Wu ◽  
Özgül M. Alper ◽  
Jyh-Feng Lu ◽  
Song-Ping Wang ◽  
Li Guo ◽  
...  
Keyword(s):  
Vas Deferens ◽  
Mutation Spectrum ◽  
Cftr Gene ◽  
Bilateral Absence

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

1995 ◽  
Vol 41 (6) ◽  
pp. 833-835 ◽  
Author(s):  
P Jézéquel ◽  
I Dorval ◽  
P Fergelot ◽  
B Chauvel ◽  
A Le Treut ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Structural Analysis ◽  
Vas Deferens ◽  
Cftr Gene ◽  
Bilateral Absence ◽  
Frequent Mutations

Abstract Congenital bilateral absence of the vas deferens (CBAVD) is found in most males with cystic fibrosis (CF), but this malformation can be observed without any pulmonary or digestive features. We have analyzed 13 exons of the CF gene in a cohort of 25 CBAVD patients. Among the 50 chromosomes studied, 24 mutations were identified: delta F508 (14 cases), R117H (7 cases), R1070W (2 cases), 621 + 1 G --> T (1 case), and A1067V (1 case). Except for delta F508, the most frequent mutations (R117H, R1070W) were not observed in the CF group (109 patients) studied in our laboratory. We discuss the significance of these results.

Congenital bilateral absence of vas deferens with a new missense mutation (P499A) in the CFTR gene

2008 ◽  
Vol 53 (3) ◽  
pp. 202-204 ◽  
Author(s):  
C. Arduino ◽  
M. Ferrone ◽  
A. Brusco ◽  
S. Garnerone ◽  
D. Fontana ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Vas Deferens ◽  
Cftr Gene ◽  
Bilateral Absence

The CFTR gene: male infertility and assisted conception

1999 ◽  
Vol 7 (2) ◽  
pp. 155-160 ◽  
Author(s):  
S Kulshrestha ◽  
A Makrigiannakis ◽  
P Patrizio
Keyword(s):  
Male Infertility ◽  
Vas Deferens ◽  
Cftr Gene ◽  
Obstructive Azoospermia ◽  
Male Factor Infertility ◽  
Assisted Conception ◽  
Male Factor ◽  
Fertility Treatments ◽  
Bilateral Absence ◽  
Testicular Failure

Approximately 30–40% of couples seeking fertility treatments have male factor infertility. Their dysfunctions include azoospermia, oligozoospermia, asthenozoospermia and teratozoospermia. Those with azoospermia represent about 25% of the total, and of these about 30% have an obstructive process while the remaining have either primary or secondary testicular failure. In the obstructive azoospermia group, 25% of males have congenital bilateral absence of the vas deferens (CBAVD).

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

2004 ◽  
Vol 19 (5) ◽  
pp. 1094-1100 ◽  
Author(s):  
Didem Dayangaç ◽  
Hayat Erdem ◽  
Engin Yilmaz ◽  
Ahmet Şahin ◽  
Christof Sohn ◽  
...  
Keyword(s):  
Vas Deferens ◽  
Cftr Gene ◽  
Bilateral Absence ◽  
Turkish Patients

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

2005 ◽  
Vol 83 (2) ◽  
pp. 448-451 ◽  
Author(s):  
Ana Grangeia ◽  
Filipa Carvalho ◽  
Susana Fernandes ◽  
Joaquina Silva ◽  
Mário Sousa ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Vas Deferens ◽  
Cftr Gene ◽  
Bilateral Absence ◽  
Exon 20
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