rs137852569
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Clinical and molecular characteristics in 15 patients with androgen receptor gene mutations from South China.
|
28261839 |
2017 |
rs9332969
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
AR mutations in 28 patients with androgen insensitivity syndrome (Prader grade 0-3).
|
28624954 |
2017 |
rs9332969
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
[Analysis of AR gene mutation in a family affected with complete androgen insensitivity syndrome using long chain RT-PCR].
|
28186600 |
2017 |
rs1555996863
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
|
27899157 |
2016 |
rs1555997580
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Targeted next-generation sequencing identification of mutations in patients with disorders of sex development.
|
26980296 |
2016 |
rs9332969
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer.
|
27267075 |
2016 |
rs137852565
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Characteristic features of reproductive hormone profiles in late adolescent and adult females with complete androgen insensitivity syndrome.
|
25613104 |
2015 |
rs137852569
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Androgen insensitivity syndrome in a cohort of Sri Lankan children with 46, XY disorders of sex development (46, XY DSD).
|
26778393 |
2015 |
rs1555996863
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Characteristic features of reproductive hormone profiles in late adolescent and adult females with complete androgen insensitivity syndrome.
|
25613104 |
2015 |
rs1555996863
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Disorders of sex development: a genetic study of patients in a multidisciplinary clinic.
|
25248670 |
2014 |
rs886041133
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
AR and SRD5A2 gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity.
|
24737579 |
2014 |
rs9332969
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutation analysis of androgen receptor gene: multiple uses for a single test.
|
25241384 |
2014 |
rs1386577803
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.
|
20150575 |
2010 |
rs1555990470
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
C601S mutation in the androgen receptor results in partial loss of androgen function.
|
20493947 |
2010 |
rs1569314508
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative report of 13 new mutations.
|
19463997 |
2010 |
rs886041133
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.
|
20150575 |
2010 |
rs137852577
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Androgen receptor mutations associated with androgen insensitivity syndrome: a high content analysis approach leading to personalized medicine.
|
20011049 |
2009 |
rs9332969
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Androgen receptor mutations associated with androgen insensitivity syndrome: a high content analysis approach leading to personalized medicine.
|
20011049 |
2009 |
rs137852573
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Male infertility and androgen receptor gene mutations: clinical features and identification of seven novel mutations.
|
17054461 |
2006 |
rs1555996810
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Probing the functional link between androgen receptor coactivator and ligand-binding sites in prostate cancer and androgen insensitivity.
|
16365032 |
2006 |
rs9332969
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
"Genetic analysis of a family with 46,XY ""female"" associated with infertility."
|
16450583 |
2006 |
rs137852577
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Dissecting phenotypic variation among AIS patients.
|
16083860 |
2005 |
rs137852577
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Novel and recurrent mutations in patients with androgen insensitivity syndromes.
|
15925895 |
2005 |
rs1555996810
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Partial androgen insensitivity with phenotypic variation caused by androgen receptor mutations that disrupt activation function 2 and the NH(2)- and carboxyl-terminal interaction.
|
15541764 |
2005 |
rs1555996863
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Novel and recurrent mutations in patients with androgen insensitivity syndromes.
|
15925895 |
2005 |