165 related articles for article (PubMed ID: 17714709)
1. A novel mutation c.118delA in exon 1 of the androgen receptor gene resulting in complete androgen insensitivity syndrome within a large family.
Decaestecker K; Philibert P; De Baere E; Hoebeke P; Kaufman JM; Sultan C; T'Sjoen G
Fertil Steril; 2008 May; 89(5):1260.e3-1260.e7. PubMed ID: 17714709
[TBL] [Abstract][Full Text] [Related]
2. [Replacement of androgen receptor gene causes complete androgen insensitivity in a large family].
Qin YY; Gao X; You L; Li Y; Yan JH; Zhao YR; Chen ZJ
Zhonghua Fu Chan Ke Za Zhi; 2008 Nov; 43(11):828-30. PubMed ID: 19087565
[TBL] [Abstract][Full Text] [Related]
3. Clinical characteristics and molecular genetics of complete androgen insensitivity syndrome patients: a series study of 30 cases from a Chinese tertiary medical center.
Zhang D; Yao F; Tian T; Deng S; Luo M; Tian Q
Fertil Steril; 2021 May; 115(5):1270-1279. PubMed ID: 33602557
[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. 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]
6. 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]
7. 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]
8. 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]
9. Novel Mutations Segregating with Complete Androgen Insensitivity Syndrome and their Molecular Characteristics.
Malcher A; Jedrzejczak P; Stokowy T; Monem S; Nowicka-Bauer K; Zimna A; Czyzyk A; Maciejewska-Jeske M; Meczekalski B; Bednarek-Rajewska K; Wozniak A; Rozwadowska N; Kurpisz M
Int J Mol Sci; 2019 Oct; 20(21):. PubMed ID: 31671693
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. [Identification of a novel frameshift mutation of human androgen receptor gene in a patient featuring complete androgen insensitivity syndrome].
Xie JH; Qu JH; Xiao QZ; Zhou YQ
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Feb; 30(1):99-101. PubMed ID: 23450491
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. AR mutations in 28 patients with androgen insensitivity syndrome (Prader grade 0-3).
Wang Y; Gong C; Wang X; Qin M
Sci China Life Sci; 2017 Jul; 60(7):700-706. PubMed ID: 28624954
[TBL] [Abstract][Full Text] [Related]
14. A double nucleotide insertion-induced frame-shift mutation of the androgen receptor gene in a familial complete androgen insensitivity syndrome.
Rong HL; Suzuki N; Imai A
Eur J Obstet Gynecol Reprod Biol; 2010 Jan; 148(1):53-5. PubMed ID: 19815331
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Androgen receptor genotyping in a large Australasian cohort with androgen insensitivity syndrome; identification of four novel mutations.
Jeske YW; McGown IN; Cowley DM; Oley C; Thomsett MJ; Choong CS; Cotterill AM
J Pediatr Endocrinol Metab; 2007 Aug; 20(8):893-908. PubMed ID: 17937062
[TBL] [Abstract][Full Text] [Related]
18. Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome.
Kharrat M; Tajouri A; Nacef IB; Hizem C; Trabelsi M; Maazoul F; M'rad R; Chaabouni HB
Steroids; 2019 Dec; 152():108489. PubMed ID: 31499074
[TBL] [Abstract][Full Text] [Related]
19. Identification of a novel mutation in exon 1 of androgen receptor gene in an azoospermic patient with mild androgen insensitivity syndrome: case report and literature review.
Goglia U; Vinanzi C; Zuccarello D; Malpassi D; Ameri P; Casu M; Minuto F; Foresta C; Ferone D
Fertil Steril; 2011 Nov; 96(5):1165-9. PubMed ID: 21962961
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
