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Relationship between androgen receptor gene structure and protein function. Structural gene defects that promote androgen insensitivity in man Estructura del gen del receptor de andrógeno y función de la proteína. Defectos estructurales del gen que determ
(1996)
The human androgen receptor is a member of the superfamily of steroid hormone receptors and contains three functional domains: an amino-terminal region involved in the expression of androgen regulated genes, a central ...
"In vitro" response of fibroblasts from genital skin to androgens Respuesta in vitro de fibroblastos de piel genital humana a andrógenos
(1996)
Defects of androgen receptor gen (Xc 11-12) leadre cellular insensitivity to these steroids. Androgen action is curently measured 'in vitro' in cultures of fioroblosts from genral skin, since expression of the androgen ...
Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism
(Associação Brasileira de Divulgação Científica, 1998)
S??ndrome da Insensibilidade Androg??nica: perfil cl??nico e epidemiol??gico de uma s??rie de casos
(Revista de Ci??ncias M??dicas e Biol??gicas, 2012)
Androgen insensitivity syndrome: Clinical phenotype and molecular analysis in a single tertiary center cohort
(Galenos Yayincilik, 2019-03)
Objective: The aim of this study was the molecular characterization of the AR gene as the cause of 46,XY disorder in our population. Methods: We studied 41, non related, 46,XY disorder of sexual differentiation index cases, ...
Androgen insensitivity syndrome at prepuberty: Marked loss of spermatogonial cells at early childhood and presence of gonocytes up to puberty
(Karger, 2018-02)
Androgen insensitivity syndrome (AIS) is a hereditary condition in patients with a 46,XY karyotype in which loss-of-function mutations of the androgen receptor (AR) gene are responsible for defects in virilization. The aim ...
Advice on the Management of Ambiguous Genitalia to a Young Endocrinologist from Experienced Clinicians
(THIEME MEDICAL PUBL INCNEW YORK, 2012)
The birth of a child with ambiguous genitalia is a challenging and distressing event for the family and physician and one with life-long consequences. Most disorders of sexual differentiation (DSD) associated with ambiguous ...