|
rs137852591
|
|
Reifenstein Syndrome
|
|
0.810 |
GeneticVariation
|
BEFREE |
The patient presented neonatally with 46,XY DSD and was diagnosed as partial androgen insensitivity syndrome carrying a disease causing AR mutation (p.Q798E).
|
20410220 |
2010 |
|
rs137852591
|
|
Reifenstein 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 |
|
rs137852591
|
|
Reifenstein Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome.
|
11587068 |
2001 |
|
rs137852591
|
|
Reifenstein Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Directed pharmacological therapy of ambiguous genitalia due to an androgen receptor gene mutation.
|
10543676 |
1999 |
|
rs137852591
|
|
Reifenstein Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Trafficking of androgen receptor mutants fused to green fluorescent protein: a new investigation of partial androgen insensitivity syndrome.
|
9768671 |
1998 |
|
rs137852591
|
|
Reifenstein Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Response to androgen treatment in a patient with partial androgen insensitivity and a mutation in the deoxyribonucleic acid-binding domain of the androgen receptor.
|
9543136 |
1998 |
|
rs137852591
|
|
Reifenstein Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Androgen receptor point mutations as the underlying molecular defect in 2 patients with androgen insensitivity syndrome.
|
9302173 |
1997 |
|
rs137852591
|
|
Reifenstein Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene.
|
9039340 |
1996 |
|
rs137852591
|
|
Reifenstein Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
The mutations, Met742Ile, Met780Ile, Gln798Glu, Arg840Cys, Arg855His and Ile869Met, were identified in PAIS patients with phenotypes representing the full spectrum seen in this condition.
|
8824883 |
1996 |
|
rs137852591
|
|
Reifenstein Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A novel missense mutation in the amino-terminal domain of the human androgen receptor gene in a family with partial androgen insensitivity syndrome causes reduced efficiency of protein translation.
|
8823308 |
1996 |
|
rs137852591
|
|
Reifenstein Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A single amino acid exchange abolishes dimerization of the androgen receptor and causes Reifenstein syndrome.
|
7649358 |
1995 |
|
rs137852591
|
|
Reifenstein Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Characterization of mutant androgen receptors causing partial androgen insensitivity syndrome.
|
8126121 |
1994 |
|
rs137852591
|
|
Reifenstein 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 |
|
rs137852591
|
|
Reifenstein Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Molecular characterization of the androgen receptor gene in boys with hypospadias.
|
8033918 |
1994 |
|
rs137852591
|
|
Reifenstein Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Amino acid substitutions in the hormone-binding domain of the human androgen receptor alter the stability of the hormone receptor complex.
|
7929841 |
1994 |
|
rs137852591
|
|
Reifenstein Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutations of the androgen receptor gene identified in perineal hypospadias.
|
8097257 |
1993 |
|
rs137852591
|
|
Reifenstein 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 |
|
rs137852591
|
|
Reifenstein Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A single amino acid substitution (gly743 --> val) in the steroid-binding domain of the human androgen receptor leads to Reifenstein syndrome.
|
8325932 |
1993 |
|
rs137852591
|
|
Reifenstein Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Point mutations detected in the androgen receptor gene of three men with partial androgen insensitivity syndrome.
|
1424203 |
1992 |
|
rs137852591
|
|
Reifenstein 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 |
|
rs137852591
|
|
Reifenstein Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome.
|
1307250 |
1992 |
|
rs137852591
|
|
Reifenstein Syndrome
|
G |
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs137852591
|
|
Androgen-Insensitivity Syndrome
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor.
|
14756668 |
2004 |
|
rs137852591
|
|
Androgen-Insensitivity Syndrome
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome.
|
11587068 |
2001 |
|
rs137852591
|
|
Androgen-Insensitivity Syndrome
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Point mutations in the steroid-binding domain of the androgen receptor gene of five Japanese patients with androgen insensitivity syndrome.
|
10458483 |
1999 |