367 related articles for article (PubMed ID: 18342859)
1. Sex-reversed phenotype in association with two novel mutations c.2494delA and c.T3004C in the ligand-binding domain of the androgen receptor gene.
Galani A; Sofocleous C; Karahaliou F; Papathanasiou A; Kitsiou-Tzeli S; Kalpini-Mavrou A
Fertil Steril; 2008 Nov; 90(5):2008.e1-4. PubMed ID: 18342859
[TBL] [Abstract][Full Text] [Related]
2. A mutation c.C2812T in the androgen receptor gene resulting in Pro817Leu substitution may affect dimerization of the androgen receptor and result in androgen insensitivity syndrome.
Turek-Plewa J; Eckersdorf-Mastalerz A; Kaluzewski B; Helszer Z; Trzeciak WH
Fertil Steril; 2006 Jun; 85(6):1822.e1-4. PubMed ID: 16759930
[TBL] [Abstract][Full Text] [Related]
3. Case of sisters with complete androgen insensitivity syndrome and discordant Müllerian remnants.
Nichols JL; Bieber EJ; Gell JS
Fertil Steril; 2009 Mar; 91(3):932.e15-8. PubMed ID: 18930210
[TBL] [Abstract][Full Text] [Related]
4. A novel Arg615Ser mutation of androgen receptor DNA-binding domain in three 46,XY sisters with complete androgen insensitivity syndrome and bilateral inguinal hernia.
Sharma V; Singh R; Thangaraj K; Jyothy A
Fertil Steril; 2011 Feb; 95(2):804.e19-21. PubMed ID: 20888558
[TBL] [Abstract][Full Text] [Related]
5. Novel androgen receptor gene mutations in Australian patients with complete androgen insensitivity syndrome.
MacLean HE; Ball EM; Rekaris G; Warne GL; Zajac JD
Hum Mutat; 2004 Mar; 23(3):287. PubMed ID: 14974091
[TBL] [Abstract][Full Text] [Related]
6. Ala 586 Asp mutation in androgen receptor disrupts transactivation function without affecting androgen binding.
Rajender S; Gupta NJ; Chakrabarty B; Singh L; Thangaraj K
Fertil Steril; 2009 Mar; 91(3):933.e23-8. PubMed ID: 19062009
[TBL] [Abstract][Full Text] [Related]
7. Complete androgen insensitivity syndrome and discordant Müllerian remnants: two cases with novel mutation in the androgen receptor.
Güven A; Dursun F; Özkanlı S; Güçlüer B; Kuru Lİ
J Pediatr Endocrinol Metab; 2013; 26(9-10):909-14. PubMed ID: 23729616
[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. Mutations in the amino-terminal domain of the human androgen receptor may be associated with partial androgen insensitivity and impaired transactivation in vitro.
Holterhus PM; Werner R; Struve D; Hauffa BP; Schroeder C; Hiort O
Exp Clin Endocrinol Diabetes; 2005 Sep; 113(8):457-63. PubMed ID: 16151980
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Long-term followup and comparison between genotype and phenotype in 29 cases of complete androgen insensitivity syndrome.
Cheikhelard A; Morel Y; Thibaud E; Lortat-Jacob S; Jaubert F; Polak M; Nihoul-Fekete C
J Urol; 2008 Oct; 180(4):1496-501. PubMed ID: 18710728
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Correlation between genotype, phenotype and sex of rearing in 111 patients with partial androgen insensitivity syndrome.
Deeb A; Mason C; Lee YS; Hughes IA
Clin Endocrinol (Oxf); 2005 Jul; 63(1):56-62. PubMed ID: 15963062
[TBL] [Abstract][Full Text] [Related]
15. 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.
Philibert P; Audran F; Pienkowski C; Morange I; Kohler B; Flori E; Heinrich C; Dacou-Voutetakis C; Joseph MG; Guedj AM; Journel H; Hecart-Bruna AC; Khotchali I; Ten S; Bouchard P; Paris F; Sultan C
Fertil Steril; 2010 Jul; 94(2):472-6. PubMed ID: 19463997
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. A novel androgen receptor mutation resulting in complete androgen insensitivity syndrome and bilateral Leydig cell hyperplasia.
Singh R; Shastry PK; Rasalkar AA; Singh L; Thangaraj K
J Androl; 2006; 27(4):510-6. PubMed ID: 16582414
[TBL] [Abstract][Full Text] [Related]
18. In-vitro characterization of androgen receptor mutations associated with complete androgen insensitivity syndrome reveals distinct functional deficits.
Werner R; Zhan J; Gesing J; Struve D; Hiort O
Sex Dev; 2008; 2(2):73-83. PubMed ID: 18577874
[TBL] [Abstract][Full Text] [Related]
19. Heterozygous mutation of steroidogenic factor-1 in 46,XY subjects may mimic partial androgen insensitivity syndrome.
Coutant R; Mallet D; Lahlou N; Bouhours-Nouet N; Guichet A; Coupris L; Croué A; Morel Y
J Clin Endocrinol Metab; 2007 Aug; 92(8):2868-73. PubMed ID: 17488792
[TBL] [Abstract][Full Text] [Related]
20. Genotype versus phenotype in families with androgen insensitivity syndrome.
Boehmer AL; Brinkmann O; Brüggenwirth H; van Assendelft C; Otten BJ; Verleun-Mooijman MC; Niermeijer MF; Brunner HG; Rouwé CW; Waelkens JJ; Oostdijk W; Kleijer WJ; van der Kwast TH; de Vroede MA; Drop SL
J Clin Endocrinol Metab; 2001 Sep; 86(9):4151-60. PubMed ID: 11549642
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
