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Two de novo mutations in the AR gene cause the complete androgen insensitivity syndrome in a pair of monozygotic twins.
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6
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Mongan NP...Hughes IA
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2002 |
| 2 |
A novel mutation in the CAG triplet region of exon 1 of androgen receptor gene causes complete androgen insensitivity syndrome in a large kindred.
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6
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Zhu YS...Imperato-McGinley J
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10323385 |
1999 |
| 3 |
Mosaicism due to a somatic mutation of the androgen receptor gene determines phenotype in androgen insensitivity syndrome.
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61
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Holterhus PM...Brinkmann AO
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9360511 |
1997 |
| 4 |
Extreme androgen resistance in a kindred with a novel insertion/deletion mutation in exon 5 of the androgen receptor gene.
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6
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Vilchis F...Chavez B
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12908100 |
2003 |
| 5 |
Complete androgen insensitivity syndrome caused by a novel mutation in the ligand-binding domain of the androgen receptor: functional characterization.
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61
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Rosa S...Schoenle EJ
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2002 |
| 6 |
Genotype versus phenotype in families with androgen insensitivity syndrome.
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6
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Boehmer AL...Drop SL
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11549642 |
2001 |
| 7 |
Androgen Insensitivity Syndrome
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61
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Gottlieb B...Trifiro MA
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20301602 |
1999 |
| 8 |
A novel substitution (Leu707Arg) in exon 4 of the androgen receptor gene causes complete androgen resistance.
6
54
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Lumbroso S...Sultan C
|
8626869 |
1996 |
| 9 |
Leu-676-Pro mutation of the androgen receptor causes complete androgen insensitivity syndrome in a large Hutterite kindred.
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6
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Belsham DD...Wrogemann K
|
7537149 |
1995 |
| 10 |
Complete androgen insensitivity syndrome associated with a de novo mutation of the androgen receptor gene detected by single strand conformation polymorphism.
61
6
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Lobaccaro JM...Sultan C
|
8096390 |
1993 |
| 11 |
Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome.
6
61
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Batch JA...Patterson MN
|
1307250 |
1992 |
| 12 |
A single amino acid substitution (Met786----Val) in the steroid-binding domain of human androgen receptor leads to complete androgen insensitivity syndrome.
61
6
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Nakao R...Nawata H
|
1569163 |
1992 |
| 13 |
Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity.
6
61
|
Lubahn DB...French FS
|
2594783 |
1989 |
| 14 |
Deletion of the steroid-binding domain of the human androgen receptor gene in one family with complete androgen insensitivity syndrome: evidence for further genetic heterogeneity in this syndrome.
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6
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Brown TR...Migeon CJ
|
3186717 |
1988 |
| 15 |
Pathophysiology of androgen insensitivity syndromes: molecular and structural approaches of natural and engineered androgen receptor mutations at amino acid 743.
6
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Poujol N...Sultan C
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2002 |
| 16 |
Male fertility is compatible with an Arg(840)Cys substitution in the AR in a large Chinese family affected with divergent phenotypes of AR insensitivity syndrome.
6
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Chu J...Luo Z
|
11788673 |
2002 |
| 17 |
A G577R mutation in the human AR P box results in selective decreases in DNA binding and in partial androgen insensitivity syndrome.
6
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Nguyen D...Mader S
|
11579211 |
2001 |
| 18 |
A unique exonic splicing mutation in the human androgen receptor gene indicates a physiologic relevance of regular androgen receptor transcript variants.
6
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Hellwinkel OJ...Hiort O
|
11397856 |
2001 |
| 19 |
Significance of the CAG repeat length in the androgen receptor gene (AR) for the transactivation function of an M780I mutant AR.
6
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Knoke I...Wieacker P
|
10323251 |
1999 |
| 20 |
Mutations of the androgen receptor gene in patients with complete androgen insensitivity.
6
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Jakubiczka S...Wieacker P
|
8990010 |
1997 |
| 21 |
Androgen insensitivity syndrome due to new mutations in the DNA-binding domain of the androgen receptor.
6
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Imasaki K...Nawata H
|
8809734 |
1996 |
| 22 |
A single amino acid substitution (gly743 --> val) in the steroid-binding domain of the human androgen receptor leads to Reifenstein syndrome.
6
|
Nakao R...Nawata H
|
8325932 |
1993 |
| 23 |
Complete testicular feminization caused by an amino-terminal truncation of the androgen receptor with downstream initiation.
6
|
Zoppi S...Marcelli M
|
8450040 |
1993 |
| 24 |
Related individuals with different androgen receptor gene deletions.
6
|
MacLean HE...Zajac JD
|
8450042 |
1993 |
| 25 |
Replacement of arginine 773 by cysteine or histidine in the human androgen receptor causes complete androgen insensitivity with different receptor phenotypes.
6
|
Prior L...Greenberg C
|
1609793 |
1992 |
| 26 |
Amber mutation creates a diagnostic MaeI site in the androgen receptor gene of a family with complete androgen insensitivity.
6
|
Trifiro M...Wrogemann K
|
1720929 |
1991 |
| 27 |
Definition of the human androgen receptor gene structure permits the identification of mutations that cause androgen resistance: premature termination of the receptor protein at amino acid residue 588 causes complete androgen resistance.
6
|
Marcelli M...McPhaul MJ
|
2293020 |
1990 |
| 28 |
An exonic point mutation of the androgen receptor gene in a family with complete androgen insensitivity.
6
|
Sai TJ...Brinkmann AO
|
2339702 |
1990 |
| 29 |
A single nucleotide substitution introduces a premature termination codon into the androgen receptor gene of a patient with receptor-negative androgen resistance.
6
|
Marcelli M...McPhaul MJ
|
2332504 |
1990 |
| 30 |
The human androgen receptor: complementary deoxyribonucleic acid cloning, sequence analysis and gene expression in prostate.
6
|
Lubahn DB...Wilson EM
|
3216866 |
1988 |
| 31 |
Multiplicity of genetic polymorphisms of blood in the Schmiedeleut Hutterites.
6
|
Lewis M...McAlpine PJ
|
4061484 |
1985 |
| 32 |
Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.
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61
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Audi L...Grupo de Apoyo al Sindrome de Insensibilidad a los Androgenos (GrApSIA)
|
20150575 |
2010 |
| 33 |
A double nucleotide insertion-induced frame-shift mutation of the androgen receptor gene in a familial complete androgen insensitivity syndrome.
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61
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Rong HL...Imai A
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2010 |
| 34 |
[Mutation analysis of the androgen receptor gene in a complete androgen insensitivity syndrome family].
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61
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Wu W...Xie J
|
19953479 |
2009 |
| 35 |
A case of complete androgen insensitivity syndrome presenting with incarcerated inguinal hernia: an immunohistochemical study.
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61
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Papanastasopoulos P...Georgiou G
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19539906 |
2009 |
| 36 |
Identification of a critical novel mutation in the exon 1 of androgen receptor gene in 2 brothers with complete androgen insensitivity syndrome.
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54
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Radpour R...Saleki A
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19023143 |
2009 |
| 37 |
Androgen receptor roles in spermatogenesis and fertility: lessons from testicular cell-specific androgen receptor knockout mice.
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61
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Wang RS...Chang C
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19176467 |
2009 |
| 38 |
In-vitro characterization of androgen receptor mutations associated with complete androgen insensitivity syndrome reveals distinct functional deficits.
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54
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Werner R...Hiort O
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18577874 |
2008 |
| 39 |
Intrinsic androgen-dependent gene expression patterns revealed by comparison of genital fibroblasts from normal males and individuals with complete and partial androgen insensitivity syndrome.
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61
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Holterhus PM...Brooks JD
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17945006 |
2007 |
| 40 |
Primary amenorrhea in a young Polish woman with complete androgen insensitivity syndrome and Sertoli-Leydig cell tumor: identification of a new androgen receptor gene mutation and evidence of aromatase hyperactivity and apoptosis dysregulation within the tumor.
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61
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Jarzabek K...Sultan C
|
17852420 |
2007 |
| 41 |
L859F mutation in androgen receptor gene results in complete loss of androgen binding to the receptor.
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61
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Rajender S...Thangaraj K
|
17522416 |
2007 |
| 42 |
A novel androgen receptor mutation resulting in complete androgen insensitivity syndrome and bilateral Leydig cell hyperplasia.
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61
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Singh R...Thangaraj K
|
16582414 |
2006 |
| 43 |
Testicular development in the complete androgen insensitivity syndrome.
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54
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Hannema SE...Hughes IA
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16400621 |
2006 |
| 44 |
Complete androgen insensitivity syndrome caused by the R855H mutation in the androgen receptor gene.
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54
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Skordis N...Sultan C
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15813610 |
2005 |
| 45 |
Transactivation properties of wild-type and mutant androgen receptors in transiently transfected primary human fibroblasts.
61
54
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Holterhus PM...Hiort O
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15812177 |
2005 |
| 46 |
An examination of how different mutations at arginine 855 of the androgen receptor result in different androgen insensitivity phenotypes.
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61
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Elhaji YA...Trifiro MA
|
15118070 |
2004 |
| 47 |
Novel androgen receptor gene mutations in Australian patients with complete androgen insensitivity syndrome.
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61
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MacLean HE...Zajac JD
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14974091 |
2004 |
| 48 |
Bridging structural biology and genetics by computational methods: an investigation into how the R774C mutation in the AR gene can result in complete androgen insensitivity syndrome.
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54
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Wu JH...Trifiro M
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2003 |
| 49 |
Novel point mutations in complete androgen insensitivity syndrome with incomplete müllerian regression: two Taiwanese patients.
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61
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Van YH...Lo FS
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13680382 |
2003 |
| 50 |
Androgen receptor gene and male infertility.
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54
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Yong EL...Sim KS
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Rare infertility disorders 
