Associated Papers
Clinical characteristics, AR gene variants, and functional domains in 64 patients with androgen insensitivity syndrome.
Liu Q et al.
Journal of Endocrinological Investigation, 2023
Mismatch between fetal sexing and birth phenotype: a case of complete androgen insensitivity syndrome.
Yoshii K et al.
Endocrine Journal, 2018
Genetic diagnosis and genetic counseling for androgen-insensitivity syndrome: a report of three cases.
Yamaguchi M et al.
The Journal of Obstetrics and Gynaecology Research, 2014
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.
Philibert P et al.
Fertility and Sterility, 2010
The mutations and potential targets of the forkhead transcription factor FOXL2.
Moumné L et al.
Molecular and Cellular Endocrinology, 2008
Androgen receptor genotyping in a large Australasian cohort with androgen insensitivity syndrome; identification of four novel mutations.
Jeske YW et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2007
Complete androgen insensitivity without Wolffian duct development: the AR-A form of the androgen receptor is not sufficient for male genital development.
Barbaro M et al.
Clinical Endocrinology, 2007
Five novel androgen receptor gene mutations associated with complete androgen insensitivity syndrome.
Jääskeläinen J et al.
Human Mutation, 2006
Male pseudohermaphroditism caused by mutations of the human androgen receptor.
McPhaul MJ et al.
The Journal of Clinical Endocrinology and Metabolism, 1999
Analysis of exon 1 mutations in the androgen receptor gene.
Gottlieb B et al.
Human Mutation, 1999
The androgen receptor gene mutations database.
Gottlieb B et al.
Nucleic Acids Research, 1996
The androgen receptor gene mutations database.
Patterson MN et al.
Nucleic Acids Research, 1994
Complete testicular feminization caused by an amino-terminal truncation of the androgen receptor with downstream initiation.
Zoppi S et al.
The Journal of Clinical Investigation, 1993
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