Male infertility
|
0.500 |
Biomarker
|
phenotype |
HPO |
|
|
|
Male infertility
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Congenital bilateral absence of the vas deferens (CBAVD) is a form of male infertility in which mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been identified.
|
7739684 |
1995 |
Male infertility
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Couples requesting microsurgical epididymal sperm aspiration/in-vitro fertilization and those in which the man has CF should be offered CFTR mutations screening if CBAVD is the cause of the male infertility.
|
9239681 |
1996 |
Male infertility
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
The present study was undertaken to test the involvement of CFTR gene mutations in 14 CBAVD males and additionally in cases of male infertility caused by obstructive azoospermia (n = 10) and severe oligozoospermia (n = 3).
|
9620832 |
1998 |
Male infertility
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
The abnormal CFTR genotypes in these patients with pancreatitis resemble those associated with male infertility.
|
9725922 |
1998 |
Male infertility
|
0.500 |
AlteredExpression
|
phenotype |
BEFREE |
Further studies are needed to substantiate the hypothesis that a combination of variants affecting expression and function of the CFTR protein is associated with male infertility.
|
10601093 |
1999 |
Male infertility
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
CFTR gene mutations and male infertility.
|
10755189 |
2000 |
Male infertility
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
Many studies have shown that congenital absence of the vas deferens (CAVD) is a genital cystic fibrosis transmembrane conductance regulator (CFTR)-mediated phenotype, with a broad spectrum of abnormalities causing male infertility.
|
11101688 |
2000 |
Male infertility
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
The most frequent pathogenic causes of male infertility are Y chromosomal microdeletions and obstructive azoospermia due to congenital absence of the vas deferens (CAVD) in the presence of mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
|
11471192 |
2001 |
Male infertility
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Therefore, we proposed to determine, in a representative unselected sample of men who were sent for microsurgical epididymal sperm aspiration, if different types of male infertility and impaired fertility were associated with CFTR gene alterations.
|
11788091 |
2001 |
Male infertility
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Therefore this review is focussed on a comprehensive overview of human genes known with mutations causing male infertility (AR; AZF gene families; CFTR, DM-1, DNAH gene family, FGFR1, FSHR, INSL3, KAL-1, LGR8- GREAT, LHR, POLG).
|
14965334 |
2004 |
Male infertility
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Congenital bilateral absence of the vas deferens (CBAVD) is a form of male infertility in which mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been identified.
|
15239534 |
2004 |
Male infertility
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
CFTR mutations and polymorphisms in male infertility.
|
15379964 |
2004 |
Male infertility
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Molecular pathology of the CFTR locus in male infertility.
|
15705292 |
2005 |
Male infertility
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Molecular evaluation of CFTR sequence variants in male infertility of testicular origin.
|
16128988 |
2005 |
Male infertility
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
This study was conducted to explore the role of CFTR gene mutations in the occurrence of CBAVD-dependent male infertility.
|
16272798 |
2005 |
Male infertility
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Congenital bilateral absence of the vas deferens (CBAVD) is responsible for 2-6% of male infertility in which mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been identified.
|
16714368 |
2006 |
Male infertility
|
0.500 |
Biomarker
|
phenotype |
CTD_human |
Novel CFTR missense mutations in Brazilian patients with congenital absence of vas deferens: counseling issues.
|
17823699 |
2007 |
Male infertility
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Thus in a very near future, for a comprehensive male infertility panel, it will be essential to include additional genetic tests, such as CFTR gene mutations, sperm mitochondrial DNA mutations, and androgen receptor gene mutations, besides the conventional chromosomal analyses, Y chromosome microdeletion detection, and sperm-FISH analyses.
|
18554162 |
2008 |
Male infertility
|
0.500 |
Biomarker
|
phenotype |
CTD_human |
Thus in a very near future, for a comprehensive male infertility panel, it will be essential to include additional genetic tests, such as CFTR gene mutations, sperm mitochondrial DNA mutations, and androgen receptor gene mutations, besides the conventional chromosomal analyses, Y chromosome microdeletion detection, and sperm-FISH analyses.
|
18554162 |
2008 |
Male infertility
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Molecular analysis of mutations and polymorphisms in the CFTR gene in male infertility.
|
18616886 |
2008 |
Male infertility
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Congenital bilateral absence of vas deferens (CBAVD) is a form of male infertility in which mutations occur in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
|
21254931 |
2011 |
Male infertility
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
An increased frequency of (cystic fibrosis transmembrane conductance regulator) CFTR mutations has been detected in some types of male infertility.
|
21679131 |
2011 |
Male infertility
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
It is well established that cystic fibrosis transmembrane conductance regulator gene (CFTR) mutations are involved in congenital bilateral absence of the vas deferens (CBAVD), causing obstructive azoospermia and male infertility.
|
21762191 |
2012 |
Male infertility
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
CFTR is a key regulator of male fertility, a defect of which may result in different forms of male infertility other than CBAVD.
|
22709980 |
2013 |