An exonic point mutation creates a MaeIll site in the androgen receptor gene of a family with complete androgen insensitivity syndrome

Jean-Marc Lobaccaro; Serge Lumbroso; Rafiaa Ktari; Robert Dumas; Charles Sultan

doi:10.1093/hmg/2.7.1041

An exonic point mutation creates a MaeIll site in the androgen receptor gene of a family with complete androgen insensitivity syndrome

Human Molecular Genetics ◽

10.1093/hmg/2.7.1041 ◽

1993 ◽

Vol 2 (7) ◽

pp. 1041-1043 ◽

Cited By ~ 7

Author(s):

Jean-Marc Lobaccaro ◽

Serge Lumbroso ◽

Rafiaa Ktari ◽

Robert Dumas ◽

Charles Sultan

Keyword(s):

Androgen Receptor ◽

Point Mutation ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Androgen Insensitivity Syndrome ◽

Complete Androgen Insensitivity Syndrome ◽

Androgen Insensitivity

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A unique point mutation in the androgen receptor gene in a family with complete androgen insensitivity syndrome**Presented at the 38th Annual Meeting of the Society of Gynecologic Investigation, San Antonio, Texas, March 20 to 23, 1991.

Fertility and Sterility ◽

10.1016/s0015-0282(16)55315-1 ◽

1992 ◽

Vol 58 (4) ◽

pp. 703-707 ◽

Cited By ~ 10

Author(s):

Craig R. Sweet ◽

Mohammad A. Behzadian ◽

Paul G. McDonough

Keyword(s):

Androgen Receptor ◽

Annual Meeting ◽

Point Mutation ◽

San Antonio ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Androgen Insensitivity Syndrome ◽

Unique Point ◽

Complete Androgen Insensitivity Syndrome ◽

Androgen Insensitivity

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Point mutation in the steroid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome (CAIS)

Human Genetics ◽

10.1007/bf00220088 ◽

1992 ◽

Vol 90 (3) ◽

Cited By ~ 8

Author(s):

Sibylle Jakubiczka ◽

EdmondA. Werder ◽

Peter Wieacker

Keyword(s):

Androgen Receptor ◽

Point Mutation ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Androgen Insensitivity Syndrome ◽

Binding Domain ◽

Complete Androgen Insensitivity Syndrome ◽

Androgen Insensitivity ◽

Steroid Binding

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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 ◽

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 Syndrome ◽

Complete Androgen Insensitivity Syndrome ◽

Androgen Insensitivity ◽

Stop Codons ◽

Exon 1 ◽

International Collaborative ◽

New Mutations

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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 ◽

Cited By ~ 2

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 ◽

Cited By ~ 4

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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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 ◽

Xy Female

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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 ◽

Cited By ~ 2

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

Download Full-text

An exonic point mutation creates a MaeIll site in the androgen receptor gene of a family with complete androgen insensitivity syndrome

A unique point mutation in the androgen receptor gene in a family with complete androgen insensitivity syndrome**Presented at the 38th Annual Meeting of the Society of Gynecologic Investigation, San Antonio, Texas, March 20 to 23, 1991.

Point mutation in the steroid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome (CAIS)

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

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

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

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

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

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

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

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

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