An uncommon large deletion in the androgen-receptor gene in a XY female with complete androgen insensitivity syndrome

Journal of Endocrinological Investigation ◽

10.1007/bf03344130 ◽

2006 ◽

Vol 29 (5) ◽

pp. 457-461

Author(s):

C. Moretti ◽

T. Odorisio ◽

R. Geremia ◽

P. Grimaldi

Keyword(s):

Androgen Receptor ◽

Receptor Gene ◽

Large Deletion ◽

Androgen Receptor Gene ◽

Androgen Insensitivity Syndrome ◽

Complete Androgen Insensitivity Syndrome ◽

Androgen Insensitivity ◽

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A large deletion/insertion-induced frameshift mutation of the androgen receptor gene in a family with a familial complete androgen insensitivity syndrome

Gene ◽

10.1016/j.gene.2012.02.028 ◽

2012 ◽

Vol 500 (2) ◽

pp. 220-223 ◽

Author(s):

Peikuan Cong ◽

Yinghui Ye ◽

Yue Wang ◽

Lingping Lu ◽

Jing Yong ◽

...

Keyword(s):

Androgen Receptor ◽

Frameshift Mutation ◽

Receptor Gene ◽

Large Deletion ◽

Androgen Receptor Gene ◽

Androgen Insensitivity Syndrome ◽

Complete Androgen Insensitivity Syndrome ◽

Androgen Insensitivity

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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 ◽

Author(s):

Pascal Philibert ◽

Françoise Audran ◽

Catherine Pienkowski ◽

Isabelle Morange ◽

Birgit Kohler ◽

...

Keyword(s):

Androgen Receptor ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Androgen Insensitivity Syndrome ◽

Complete Androgen Insensitivity Syndrome ◽

Androgen Insensitivity ◽

Stop Codons ◽

Exon 1 ◽

International Collaborative ◽

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A rare polypyrimidine tract mutation in the androgen receptor gene results in complete androgen insensitivity syndrome

Asian Journal of Andrology ◽

10.4103/aja.aja_32_17 ◽

2018 ◽

Vol 20 (3) ◽

pp. 308 ◽

Author(s):

Yue-Qiu Tan ◽

Shi-Min Yuan ◽

Huan Huang ◽

Chao-Feng Tu ◽

Juan Du ◽

...

Keyword(s):

Androgen Receptor ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Androgen Insensitivity Syndrome ◽

Polypyrimidine Tract ◽

Complete Androgen Insensitivity Syndrome ◽

Androgen Insensitivity

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Complete androgen insensitivity syndrome caused by c.1769-1G > C mutation and activation of a cryptic splice acceptor site in the androgen receptor gene

Steroids ◽

10.1016/j.steroids.2018.05.012 ◽

2018 ◽

Vol 137 ◽

pp. 64-69 ◽

Author(s):

Song Wang ◽

Peng Xia ◽

Nicholas A. Cacalano ◽

Haikun Xu ◽

Dejun Li

Keyword(s):

Androgen Receptor ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Androgen Insensitivity Syndrome ◽

Splice Acceptor Site ◽

Acceptor Site ◽

Splice Acceptor ◽

Complete Androgen Insensitivity Syndrome ◽

Androgen Insensitivity

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A novel nonsense mutation in the N-terminal domain of the androgen receptor gene causes complete androgen insensitivity syndrome

Journal of Obstetrics and Gynaecology ◽

10.3109/01443615.2012.698335 ◽

2012 ◽

Vol 32 (7) ◽

pp. 707-708

Author(s):

Z. Cai ◽

Z. S. Li ◽

X. Y. Liu

Keyword(s):

Androgen Receptor ◽

Nonsense Mutation ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Androgen Insensitivity Syndrome ◽

Complete Androgen Insensitivity Syndrome ◽

Androgen Insensitivity ◽

Terminal Domain

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Novel Androgen Receptor Gene Mutation in Patient With Complete Androgen Insensitivity Syndrome

Urology ◽

10.1016/j.urology.2012.03.028 ◽

2012 ◽

Vol 80 (1) ◽

pp. 216-218 ◽

Author(s):

Ye Ning ◽

Feng Zhang ◽

Yong Zhu ◽

Huixing Chen ◽

Jianqi Lu ◽

...

Keyword(s):

Androgen Receptor ◽

Gene Mutation ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Androgen Insensitivity Syndrome ◽

Complete Androgen Insensitivity Syndrome ◽

Androgen Insensitivity

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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 ◽

Androgen Insensitivity Syndrome ◽

Binding Domain ◽

Ligand Binding Domain ◽

Complete Androgen Insensitivity Syndrome ◽

Androgen Insensitivity

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Complete androgen insensitivity syndrome caused by the c.2678C>T mutation in the androgen receptor gene: A case report

World Journal of Clinical Cases ◽

10.12998/wjcc.v9.i35.11036 ◽

2021 ◽

Vol 9 (35) ◽

pp. 11036-11042

Author(s):

Ka-Na Wang ◽

Qing-Qing Chen ◽

Yi-Lin Zhu ◽

Chun-Lin Wang

Keyword(s):

Case Report ◽

Androgen Receptor ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Androgen Insensitivity Syndrome ◽

Complete Androgen Insensitivity Syndrome ◽

Androgen Insensitivity

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A novel mutation (c.T3816 > C) in the androgen receptor gene in a 46,XY female patient with androgen insensitivity syndrome

Endokrynologia Polska ◽

10.5603/ep.2013.0023 ◽

2013 ◽

Vol 64 (5) ◽

pp. 398-402 ◽

Author(s):

Zofia Helszer ◽

Anita Dmochowska ◽

Edyta Borkowska ◽

Hanna Moczulska ◽

Jolanta Słowikowska-Hilczer ◽

...

Keyword(s):

Androgen Receptor ◽

Female Patient ◽

Novel Mutation ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Androgen Insensitivity Syndrome ◽

Androgen Insensitivity ◽

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Novel Variant of the Androgen Receptor Gene in a Patient With Complete Androgen Insensitivity Syndrome and Polyorchidism

Frontiers in Endocrinology ◽

10.3389/fendo.2018.00795 ◽

2019 ◽

Vol 9 ◽

Author(s):

Ilze Konrade ◽

Julija Zavorikina ◽

Aija Fridvalde ◽

Dmitrijs Rots ◽

Ieva Kalere ◽

...

Keyword(s):

Androgen Receptor ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Androgen Insensitivity Syndrome ◽

Complete Androgen Insensitivity Syndrome ◽

Androgen Insensitivity ◽

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