Condition: Bulbo-Spinal Atrophy, X-Linked


rs137852565 in AR gene and Bulbo-Spinal Atrophy, X-Linked PMID 25613104 2015 Characteristic features of reproductive hormone profiles in late adolescent and adult females with complete androgen insensitivity syndrome.

PMID 2332504 1990 A single nucleotide substitution introduces a premature termination codon into the androgen receptor gene of a patient with receptor-negative androgen resistance.

PMID 26778393 2015 Androgen insensitivity syndrome in a cohort of Sri Lankan children with 46, XY disorders of sex development (46, XY DSD).

PMID 28261839 2017 Clinical and molecular characteristics in 15 patients with androgen receptor gene mutations from South China.

PMID 1598912 1992 Point mutation in the DNA binding domain of the androgen receptor in two families with Reifenstein syndrome.

PMID 9039340 1996 Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene.

PMID 8723113 1996 The clinical and molecular spectrum of androgen insensitivity syndromes.

PMID 17054461 2006 Male infertility and androgen receptor gene mutations: clinical features and identification of seven novel mutations.

PMID 11788616 2002 Postnatal changes of T, LH, and FSH in 46,XY infants with mutations in the AR gene.

PMID 16083860 2005 Dissecting phenotypic variation among AIS patients.

PMID 15925895 2005 Novel and recurrent mutations in patients with androgen insensitivity syndromes.

PMID 1430233 1992 Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene.

PMID 20011049 2009 Androgen receptor mutations associated with androgen insensitivity syndrome: a high content analysis approach leading to personalized medicine.

PMID 8040309 1994 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.

PMID 8824883 1996 Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome.

PMID 9768671 1998 Trafficking of androgen receptor mutants fused to green fluorescent protein: a new investigation of partial androgen insensitivity syndrome.

PMID 11788673 2002 Male fertility is compatible with an Arg(840)Cys substitution in the AR in a large Chinese family affected with divergent phenotypes of AR insensitivity syndrome.

PMID 20150575 2010 Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.

PMID 10458483 1999 Point mutations in the steroid-binding domain of the androgen receptor gene of five Japanese patients with androgen insensitivity syndrome.

PMID 10834333 2000 Androgen receptor gene mutation identified by PCR-SSCP and sequencing in 4 patients with complete androgen insensitivity syndrome.

PMID 2082179 1990 Functional characterization of naturally occurring mutant androgen receptors from subjects with complete androgen insensitivity.

PMID 7981689 1994 Two mutations causing complete androgen insensitivity: a frame-shift in the steroid binding domain and a Cys-->Phe substitution in the second zinc finger of the androgen receptor.

PMID 20493947 2010 C601S mutation in the androgen receptor results in partial loss of androgen function.

PMID 10425033 1999 Update of the androgen receptor gene mutations database.

PMID 7671849 1995 Androgen receptor defects: historical, clinical, and molecular perspectives.

PMID 10092153 1999 Screening for mutations in candidate genes for hypospadias.

PMID 15541764 2005 Partial androgen insensitivity with phenotypic variation caused by androgen receptor mutations that disrupt activation function 2 and the NH(2)- and carboxyl-terminal interaction.

PMID 16365032 2006 Probing the functional link between androgen receptor coactivator and ligand-binding sites in prostate cancer and androgen insensitivity.

PMID 11376111 2001 Disrupted amino- and carboxyl-terminal interactions of the androgen receptor are linked to androgen insensitivity.

PMID 1307250 1992 Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome.

PMID 27899157 2016 Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.

PMID 25248670 2014 Disorders of sex development: a genetic study of patients in a multidisciplinary clinic.

PMID 9328206 1997 Wide variation in androgen receptor dysfunction in complete androgen insensitivity syndrome.

PMID 15531547 2004 Residual activity of mutant androgen receptors explains wolffian duct development in the complete androgen insensitivity syndrome.

PMID 10690872 2000 Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome.

PMID 9856504 1998 Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome.

PMID 26980296 2016 Targeted next-generation sequencing identification of mutations in patients with disorders of sex development.

PMID 1458719 1992 Androgen resistance due to mutation of the androgen receptor.

PMID 19463997 2010 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.

PMID 11266016 2001 Thirty-seven CAG repeats in the androgen receptor gene in two healthy individuals.

PMID 12843171 2003 Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: five novel mutations in the androgen receptor gene.

PMID 24737579 2014 AR and SRD5A2 gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity.

PMID 14974091 2004 Novel androgen receptor gene mutations in Australian patients with complete androgen insensitivity syndrome.

PMID 8126121 1994 Characterization of mutant androgen receptors causing partial androgen insensitivity syndrome.

PMID 27267075 2016 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.

PMID 28186600 2017 [Analysis of AR gene mutation in a family affected with complete androgen insensitivity syndrome using long chain RT-PCR].

PMID 25241384 2014 Mutation analysis of androgen receptor gene: multiple uses for a single test.

PMID 28624954 2017 AR mutations in 28 patients with androgen insensitivity syndrome (Prader grade 0-3).

PMID 16450583 2006 "Genetic analysis of a family with 46,XY ""female"" associated with infertility."