|
Androgen-Insensitivity Syndrome
|
|
0.810 |
GeneticVariation
|
BEFREE |
In-silico analysis of mutations observed in androgen receptor gene of androgen insensitivity syndrome predicted that the substitution at Y572C and V867M could probably disrupt the protein structure and function.
|
26688387 |
2016 |
|
Androgen-Insensitivity Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor.
|
14756668 |
2004 |
|
Androgen-Insensitivity Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome.
|
11587068 |
2001 |
|
Androgen-Insensitivity Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Androgen receptor gene mutations in 46,XY females with germ cell tumours.
|
10221692 |
1999 |
|
Androgen-Insensitivity Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Point mutations in the steroid-binding domain of the androgen receptor gene of five Japanese patients with androgen insensitivity syndrome.
|
10458483 |
1999 |
|
Androgen-Insensitivity Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
One additional mutation at exon A amplifies thermolability of androgen receptor in a case with complete androgen insensitivity syndrome.
|
9610419 |
1998 |
|
Androgen-Insensitivity Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Molecular analysis of the androgen receptor gene in 4 patients with complete androgen insensitivity.
|
9544375 |
1998 |
|
Androgen-Insensitivity Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism.
|
9698822 |
1998 |
|
Androgen-Insensitivity Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Androgen receptor point mutations as the underlying molecular defect in 2 patients with androgen insensitivity syndrome.
|
9302173 |
1997 |
|
Androgen-Insensitivity Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene.
|
9039340 |
1996 |
|
Androgen-Insensitivity Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Androgen insensitivity syndrome due to new mutations in the DNA-binding domain of the androgen receptor.
|
8809734 |
1996 |
|
Androgen-Insensitivity Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
The clinical and molecular spectrum of androgen insensitivity syndromes.
|
8723113 |
1996 |
|
Androgen-Insensitivity Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain.
|
7581399 |
1995 |
|
Androgen-Insensitivity Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Androgen receptor defects: historical, clinical, and molecular perspectives.
|
7671849 |
1995 |
|
Androgen-Insensitivity Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Leu-676-Pro mutation of the androgen receptor causes complete androgen insensitivity syndrome in a large Hutterite kindred.
|
7537149 |
1995 |
|
Androgen-Insensitivity Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Substitution of arginine-839 by cysteine or histidine in the androgen receptor causes different receptor phenotypes in cultured cells and coordinate degrees of clinical androgen resistance.
|
8040309 |
1994 |
|
Androgen-Insensitivity Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A practical approach to the detection of androgen receptor gene mutations and pedigree analysis in families with x-linked androgen insensitivity.
|
7970939 |
1994 |
|
Androgen-Insensitivity Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A single-base substitution in exon 6 of the androgen receptor gene causing complete androgen insensitivity: the mutated receptor fails to transactivate but binds to DNA in vitro.
|
8281140 |
1993 |
|
Androgen-Insensitivity Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Single strand conformation polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: application for diagnosis, genetic counseling, and therapy.
|
8325950 |
1993 |
|
Androgen-Insensitivity Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Immunoreactive androgen receptor expression in subjects with androgen resistance.
|
1464650 |
1992 |
|
Androgen-Insensitivity Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Amino acid substitutions in the DNA-binding domain of the human androgen receptor are a frequent cause of receptor-binding positive androgen resistance.
|
1316540 |
1992 |
|
Androgen-Insensitivity Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
|
Reifenstein Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor.
|
14756668 |
2004 |
|
Reifenstein Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome.
|
11587068 |
2001 |
|
Reifenstein Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Directed pharmacological therapy of ambiguous genitalia due to an androgen receptor gene mutation.
|
10543676 |
1999 |