Severe forms of complete androgen insensitivity syndrome caused by a p.Q65X novel mutation in androgen receptor: Clinical manifestations, imaging findings and molecular genetics

Imaging Findings ◽

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

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.2002-020139 ◽

2002 ◽

Vol 87 (9) ◽

pp. 4378-4382 ◽

Cited By ~ 10

Author(s):

Stephanie Rosa ◽

Anna Biason-Lauber ◽

Nigel P. Mongan ◽

Francesca Navratil ◽

Eugen J. Schoenle

Keyword(s):

Androgen Receptor ◽

Ligand Binding ◽

Novel Mutation ◽

Functional Characterization ◽

Binding Domain ◽

Ligand Binding Domain ◽

A Novel Mutation of the Androgen Receptor Gene Ligand-Binding Domain (V734P) Associated with the Complete Androgen Insensitivity Syndrome

Clinical Pediatric Endocrinology ◽

10.1297/cpe.4.149 ◽

1995 ◽

Vol 4 (2) ◽

pp. 149-154

Author(s):

Ryo Ogawa ◽

Hideki Yagi ◽

Tomohisa Nagashima ◽

Kazumichi Onigata ◽

Yoko Nomura ◽

...

Keyword(s):

Androgen Receptor ◽

Ligand Binding ◽

Novel Mutation ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Binding Domain ◽

Ligand Binding Domain ◽

A Novel Mutation in the CAG Triplet Region of Exon 1 of Androgen Receptor Gene Causes Complete Androgen Insensitivity Syndrome in a Large Kindred

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.84.5.1590 ◽

1999 ◽

Vol 84 (5) ◽

pp. 1590-1594 ◽

Cited By ~ 8

Author(s):

Y.-S. Zhu

Keyword(s):

Androgen Receptor ◽

Novel Mutation ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Androgen Insensitivity ◽

Exon 1

A Family Case of Complete Androgen Insensitivity Syndrome in Sisters due to a Novel Mutation in the Androgen Receptor Gene

Journal of Korean Endocrine Society ◽

10.3803/jkes.2008.23.4.277 ◽

2008 ◽

Vol 23 (4) ◽

pp. 277

Author(s):

Jun Mo Sung ◽

Hyung-Young Yoon ◽

Hyon J. Kim ◽

Mi Ran Kim ◽

Tae Hi Lee ◽

...

Keyword(s):

Androgen Receptor ◽

Novel Mutation ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Androgen Insensitivity ◽

Family Case

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

Journal of Andrology ◽

10.2164/jandrol.108.005520 ◽

2008 ◽

Vol 30 (3) ◽

pp. 230-232 ◽

Cited By ~ 8

Author(s):

R. Radpour ◽

M. Falah ◽

A. Aslani ◽

X. Y. Zhong ◽

A. Saleki

Keyword(s):

Androgen Receptor ◽

Novel Mutation ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Androgen Insensitivity ◽

Exon 1

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

Asian Journal of Andrology ◽

10.1111/j.1745-7262.2008.00376.x ◽

2008 ◽

Vol 10 (4) ◽

pp. 687-691 ◽

Cited By ~ 8

Author(s):

Florina Raicu ◽

Rossella Giuliani ◽

Valentina Gatta ◽

Chiara Palka ◽

Paolo Guanciali Franchi ◽

...

Keyword(s):

Androgen Receptor ◽

Ligand Binding ◽

Novel Mutation ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Binding Domain ◽

Ligand Binding Domain ◽

A Novel Mutation in the CAG Triplet Region of Exon 1 of Androgen Receptor Gene Causes Complete Androgen Insensitivity Syndrome in a Large Kindred1

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jcem.84.5.5695 ◽

1999 ◽

Vol 84 (5) ◽

pp. 1590-1594

Author(s):

Yuan-Shan Zhu ◽

Li-Qun Cai ◽

Juan J. Cordero ◽

William J. Canovatchel ◽

Melissa D. Katz ◽

...

Keyword(s):

Androgen Receptor ◽

Novel Mutation ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Androgen Insensitivity ◽

Exon 1

Complete androgen insensitivity syndrome and discordant Müllerian remnants: two cases with novel mutation in the androgen receptor

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2013-0047 ◽

2013 ◽

Vol 26 (9-10) ◽

Cited By ~ 3

Author(s):

Ayla Güven ◽

Fatma Dursun ◽

Seyma Özkanlı ◽

Berrin Güçlüer ◽

L. İhsan Kuru

Keyword(s):

Androgen Receptor ◽

Novel Mutation ◽

A Novel Mutation (c.2735_2736delTC) in the Androgen Receptor Gene in 46,XY Females with Complete Androgen Insensitivity Syndrome in an Egyptian Family

Hormone Research in Paediatrics ◽

10.1159/000360292 ◽

2014 ◽

Vol 82 (6) ◽

pp. 411-414 ◽

Cited By ~ 1

Author(s):

Inas Mazen ◽

Hala Soliman ◽

Mona El-Gammal ◽

Ahmed Torky ◽

Mona Mekkawy ◽

...

Keyword(s):

Androgen Receptor ◽

Novel Mutation ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

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

Fertility and Sterility ◽

10.1016/j.fertnstert.2007.04.057 ◽

2008 ◽

Vol 89 (5) ◽

pp. 1260.e3-1260.e7 ◽

Cited By ~ 6

Author(s):

Karel Decaestecker ◽

Pascal Philibert ◽

Elfride De Baere ◽

Piet Hoebeke ◽

Jean-Marc Kaufman ◽

...

Keyword(s):

Androgen Receptor ◽

Novel Mutation ◽

Receptor Gene ◽

Large Family ◽

Androgen Receptor Gene ◽

Androgen Insensitivity ◽

Exon 1