Sex-reversed phenotype in association with two novel mutations c.2494delA and c.T3004C in the ligand-binding domain of the androgen receptor gene (original) (raw)

Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome

Fernando Larrea

Journal of Human Genetics, 2001

View PDFchevron_right

Three novel and two known androgen receptor gene mutations associated with androgen insensitivity syndrome in sex-reversed XY female patients

Brindha Arumugam

Journal of Genetics, 2016

View PDFchevron_right

Molecular modeling and in vitro investigations of the human androgen receptor DNA-binding domain: application for the study of two mutations

Charles Sultan

Molecular and Cellular Endocrinology, 1996

View PDFchevron_right

Epigenetic Repression of Androgen Receptor Transcription in Mutation-Negative Androgen Insensitivity Syndrome (AIS Type II)

Helmuth Dörr

The Journal of Clinical Endocrinology & Metabolism, 2018

View PDFchevron_right

Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome

Hughes Ia, Bronwen Evans

Human Molecular Genetics, 1996

View PDFchevron_right

Mutations of androgen receptor gene in androgen insensitivity syndromes

Jean-Marc Lobaccaro

The Journal of Steroid Biochemistry and Molecular Biology, 1993

View PDFchevron_right

A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome

RAFAEL LOCH BATISTA

The Journal of Steroid Biochemistry and Molecular Biology, 2017

View PDFchevron_right

Novel mutation in the ligand-binding domain of the androgen receptor gene (1790p) associated with complete androgen insensitivity syndrome

Stefano Tumini

Asian Journal of Andrology, 2008

View PDFchevron_right

Androgen receptor gene mutations in 46, XY females

Mir Omrani

2006

View PDFchevron_right

Complete Androgen Insensitivity Syndrome Caused by a Novel Mutation in the Ligand-Binding Domain of the Androgen Receptor: Functional Characterization

Charles Sultan

The Journal of Clinical Endocrinology & Metabolism, 2002

View PDFchevron_right

Androgen receptor mutations

Guido Jenster

The Journal of Steroid Biochemistry and Molecular Biology, 1995

View PDFchevron_right

Pharmacogenetics of human androgens and prostatic diseases

Giuseppe Novelli

Pharmacogenomics, 2001

View PDFchevron_right

Mutation analysis of androgen receptor gene: Multiple uses for a single test

Reza Ebrahimzadeh

Gene, 2014

View PDFchevron_right

The androgen receptor gene mutations database (ARDB): 2004 update

Bruce Gottlieb

Human Mutation, 2004

View PDFchevron_right

A novel mutation c.118delA in exon 1 of the androgen receptor gene resulting in complete androgen insensitivity syndrome within a large family

E. Baere, Karel Decaestecker, Charles Sultan

Fertility and Sterility, 2008

View PDFchevron_right

Androgen receptor abnormalities

M. Trifiro

The Journal of Steroid Biochemistry and Molecular Biology, 1991

View PDFchevron_right

Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene

farida mebarki

The Journal of Clinical Endocrinology & Metabolism, 1996

View PDFchevron_right

Identification of a Critical Novel Mutation in the Exon 1 of Androgen Receptor Gene in 2 Brothers With Complete Androgen Insensitivity Syndrome

Ramin Radpour

Journal of Andrology, 2009

View PDFchevron_right

Estrogen Receptor{alpha} Gene Deficiency Enhances Androgen Biosynthesis in the

Kenneth Korach

View PDFchevron_right

Complete androgen insensitivity syndrome due to a new frameshift deletion in exon 4 of the androgen receptor gene: functional analysis of the mutant receptor

poujol nicolas

Molecular and Cellular Endocrinology, 1995

View PDFchevron_right

Novel Mutations Segregating with Complete Androgen Insensitivity Syndrome and their Molecular Characteristics

Maciej Kurpisz

International Journal of Molecular Sciences, 2019

View PDFchevron_right

Androgen resistance caused by mutations in the androgen receptor gene

Marco Marcelli

FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 1991

View PDFchevron_right

Complete androgen insensitivity syndrome associated with a de novo mutation of the androgen receptor gene detected by single strand conformation polymorphism

S. Lumbroso

The Journal of Steroid Biochemistry and Molecular Biology, 1993

View PDFchevron_right

Novel Missense Mutation in the P-Box of Androgen Receptor in a Patient with Androgen Insensitivity Syndrome

Reiko Horikawa

Endocrine Journal, 2008

View PDFchevron_right

Novel androgen receptor gene mutations in Australian patients with complete androgen insensitivity syndrome

Helen Maclean

Human Mutation, 2004

View PDFchevron_right

Mosaicism due to a Somatic Mutation of the Androgen Receptor Gene Determines Phenotype in Androgen Insensitivity Syndrome1

H. Brüggenwirth

The Journal of Clinical Endocrinology & Metabolism, 1997

View PDFchevron_right

G708E Mutation In the Androgen Receptor Results In Complete Loss of Androgen Function

pooja singh

Journal of …, 2010

View PDFchevron_right

Novel Androgen Receptor gene variant containing a premature termination codon in a patient with androgen insensitivity syndrome

Vaidutis Kučinskas

Journal of Pediatric and Adolescent Gynecology

View PDFchevron_right