533 related articles for article (PubMed ID: 12213902)
1. Complete androgen insensitivity syndrome caused by a novel mutation in the ligand-binding domain of the androgen receptor: functional characterization.
Rosa S; Biason-Lauber A; Mongan NP; Navratil F; Schoenle EJ
J Clin Endocrinol Metab; 2002 Sep; 87(9):4378-82. PubMed ID: 12213902
[TBL] [Abstract][Full Text] [Related]
2. Novel mutation in the ligand-binding domain of the androgen receptor gene (l790p) associated with complete androgen insensitivity syndrome.
Raicu F; Giuliani R; Gatta V; Palka C; Franchi PG; Lelli-Chiesa P; Tumini S; Stuppia L
Asian J Androl; 2008 Jul; 10(4):687-91. PubMed ID: 18097502
[TBL] [Abstract][Full Text] [Related]
3. Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome.
Ahmed SF; Cheng A; Dovey L; Hawkins JR; Martin H; Rowland J; Shimura N; Tait AD; Hughes IA
J Clin Endocrinol Metab; 2000 Feb; 85(2):658-65. PubMed ID: 10690872
[TBL] [Abstract][Full Text] [Related]
4. A novel mutation in the CAG triplet region of exon 1 of androgen receptor gene causes complete androgen insensitivity syndrome in a large kindred.
Zhu YS; Cai LQ; Cordero JJ; Canovatchel WJ; Katz MD; Imperato-McGinley J
J Clin Endocrinol Metab; 1999 May; 84(5):1590-4. PubMed ID: 10323385
[TBL] [Abstract][Full Text] [Related]
5. Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain.
Murono K; Mendonca BB; Arnhold IJ; Rigon AC; Migeon CJ; Brown TR
Hum Mutat; 1995; 6(2):152-62. PubMed ID: 7581399
[TBL] [Abstract][Full Text] [Related]
6. Five novel androgen receptor gene mutations associated with complete androgen insensitivity syndrome.
Jääskeläinen J; Mongan NP; Harland S; Hughes IA
Hum Mutat; 2006 Mar; 27(3):291. PubMed ID: 16470553
[TBL] [Abstract][Full Text] [Related]
7. 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.
Wu JH; Gottlieb B; Batist G; Sulea T; Purisima EO; Beitel LK; Trifiro M
Hum Mutat; 2003 Dec; 22(6):465-75. PubMed ID: 14635106
[TBL] [Abstract][Full Text] [Related]
8. Molecular analysis of familial androgen insensitivity syndrome due to replacement of glutamic acid 802 by lysine.
Sawai H; Komori S; Sakata K; Nakae K; Shima H; Matsumoto F; Matsumoto H; Onishi Y; Okada Y; Yoshida O; Koyama K
J Hum Genet; 2000; 45(6):342-5. PubMed ID: 11185742
[TBL] [Abstract][Full Text] [Related]
9. An androgen receptor mutation in the direct vicinity of the proposed C-terminal alpha-helix of the ligand binding domain containing the AF-2 transcriptional activating function core is associated with complete androgen insensitivity.
Peters I; Weidemann W; Romalo G; Knorr D; Schweikert HU; Spindler KD
Mol Cell Endocrinol; 1999 Feb; 148(1-2):47-53. PubMed ID: 10221770
[TBL] [Abstract][Full Text] [Related]
10. A novel mutation (c.T3816 > C) in the androgen receptor gene in a 46,XY female patient with androgen insensitivity syndrome.
Helszer Z; Dmochowska A; Borkowska E; Moczulska H; Słowikowska-Hilczer J; Pietrusiński M; Jędrzejczyk S; Kałużewski B
Endokrynol Pol; 2013; 64(5):398-402. PubMed ID: 24186597
[TBL] [Abstract][Full Text] [Related]
11. A G577R mutation in the human AR P box results in selective decreases in DNA binding and in partial androgen insensitivity syndrome.
Nguyen D; Steinberg SV; Rouault E; Chagnon S; Gottlieb B; Pinsky L; Trifiro M; Mader S
Mol Endocrinol; 2001 Oct; 15(10):1790-802. PubMed ID: 11579211
[TBL] [Abstract][Full Text] [Related]
12. Leu-676-Pro mutation of the androgen receptor causes complete androgen insensitivity syndrome in a large Hutterite kindred.
Belsham DD; Pereira F; Greenberg CR; Liao S; Wrogemann K
Hum Mutat; 1995; 5(1):28-33. PubMed ID: 7537149
[TBL] [Abstract][Full Text] [Related]
13. Novel point mutation in the splice donor site of exon-intron junction 6 of the androgen receptor gene in a patient with partial androgen insensitivity syndrome.
Sammarco I; Grimaldi P; Rossi P; Cappa M; Moretti C; Frajese G; Geremia R
J Clin Endocrinol Metab; 2000 Sep; 85(9):3256-61. PubMed ID: 10999818
[TBL] [Abstract][Full Text] [Related]
14. Comparison of the molecular consequences of different mutations at residue 754 and 690 of the androgen receptor (AR) and androgen insensitivity syndrome (AIS) phenotype.
Tadokoro R; Bunch T; Schwabe JW; Hughes IA; Murphy JC
Clin Endocrinol (Oxf); 2009 Aug; 71(2):253-60. PubMed ID: 19178528
[TBL] [Abstract][Full Text] [Related]
15. [Mutation analysis of the androgen receptor gene in a complete androgen insensitivity syndrome family].
Wu W; Luo F; Geng Q; Hao Y; Chen W; Cai J; Xie J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Dec; 26(6):606-9. PubMed ID: 19953479
[TBL] [Abstract][Full Text] [Related]
16. L712V mutation in the androgen receptor gene causes complete androgen insensitivity syndrome due to severe loss of androgen function.
Rajender S; Gupta NJ; Chakrabarty B; Singh L; Thangaraj K
Steroids; 2013 Dec; 78(12-13):1288-92. PubMed ID: 24055831
[TBL] [Abstract][Full Text] [Related]
17. Impaired helix 12 dynamics due to proline 892 substitutions in the androgen receptor are associated with complete androgen insensitivity.
Elhaji YA; Stoica I; Dennis S; Purisima EO; Lumbroso R; Beitel LK; Trifiro MA
Hum Mol Genet; 2006 Mar; 15(6):921-31. PubMed ID: 16449235
[TBL] [Abstract][Full Text] [Related]
18. Novel amino acid substitutional mutation, tyrosine-739-aspartic acid, in the androgen receptor gene in complete androgen insensitivity syndrome.
Suzuki K; Fukabori Y; Nakazato H; Hasumi M; Matsui H; Ito K; Kurokawa K; Yamanaka H
Int J Androl; 2001 Jun; 24(3):183-8. PubMed ID: 11380707
[TBL] [Abstract][Full Text] [Related]
19. A novel substitution (Leu707Arg) in exon 4 of the androgen receptor gene causes complete androgen resistance.
Lumbroso S; Lobaccaro JM; Georget V; Leger J; Poujol N; Térouanne B; Evain-Brion D; Czernichow P; Sultan C
J Clin Endocrinol Metab; 1996 May; 81(5):1984-8. PubMed ID: 8626869
[TBL] [Abstract][Full Text] [Related]
20. Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome.
Chávez B; Méndez JP; Ulloa-Aguirre A; Larrea F; Vilchis F
J Hum Genet; 2001; 46(10):560-5. PubMed ID: 11587068
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]