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

Androgen Insensitivity ◽

Exon 1

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 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

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

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

Fertility and Sterility ◽

10.1016/j.fertnstert.2009.03.057 ◽

2010 ◽

Vol 94 (2) ◽

pp. 472-476 ◽

Cited By ~ 24

Author(s):

Pascal Philibert ◽

Françoise Audran ◽

Catherine Pienkowski ◽

Isabelle Morange ◽

Birgit Kohler ◽

...

Keyword(s):

Androgen Receptor ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Androgen Insensitivity ◽

Stop Codons ◽

Exon 1 ◽

International Collaborative ◽

New Mutations

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 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

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 ◽

Identification of a novel mutation in exon 1 of androgen receptor gene in an azoospermic patient with mild androgen insensitivity syndrome: case report and literature review

Fertility and Sterility ◽

10.1016/j.fertnstert.2011.08.033 ◽

2011 ◽

Vol 96 (5) ◽

pp. 1165-1169 ◽

Cited By ~ 12

Author(s):

Umberto Goglia ◽

Cinzia Vinanzi ◽

Daniela Zuccarello ◽

Davide Malpassi ◽

Pietro Ameri ◽

...

Keyword(s):

Case Report ◽

Androgen Receptor ◽

Literature Review ◽

Novel Mutation ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Androgen Insensitivity ◽

Exon 1

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 of Androgen Receptor Gene in Complete Androgen Insensitivity Syndrome

Clinical Pediatric Endocrinology ◽

10.1297/cpe.16.59 ◽

2007 ◽

Vol 16 (2) ◽

pp. 59-61

Author(s):

Satoshi Narumi ◽

Naoko Amano ◽

Rumi Hachiya ◽

Tomohiro Ishii ◽

Tomonobu Hasegawa

Keyword(s):

Androgen Receptor ◽

Novel Mutation ◽

Receptor Gene ◽

Androgen Receptor Gene ◽