113 related articles for article (PubMed ID: 8574287)
1. Premature termination mutation (772Glu-->stop) in the hormone-binding domain of the androgen receptor in a patient with the receptor-negative form of complete androgen insensitivity syndrome.
Imasaki K; Okabe T; Murakami H; Fujita K; Takayanagi R; Nawata H
Endocr J; 1995 Oct; 42(5):643-8. PubMed ID: 8574287
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Correlation of clinical, endocrine and molecular abnormalities with in vivo responses to high-dose testosterone in patients with partial androgen insensitivity syndrome.
Tincello DG; Saunders PT; Hodgins MB; Simpson NB; Edwards CR; Hargreaves TB; Wu FC
Clin Endocrinol (Oxf); 1997 Apr; 46(4):497-506. PubMed ID: 9196614
[TBL] [Abstract][Full Text] [Related]
4. A frame-shift mutation of the androgen receptor gene in a patient with receptor-negative complete testicular feminization: comparison with a single base substitution in a receptor-reduced incomplete form.
Imai A; Ohno T; Iida K; Ohsuye K; Okano Y; Tamaya T
Ann Clin Biochem; 1995 Sep; 32 ( Pt 5)():482-6. PubMed ID: 8830623
[TBL] [Abstract][Full Text] [Related]
5. Single amino acid substitution (840Arg-->His) in the hormone-binding domain of the androgen receptor leads to incomplete androgen insensitivity syndrome associated with a thermolabile androgen receptor.
Imasaki K; Hasegawa T; Okabe T; Sakai Y; Haji M; Takayanagi R; Nawata H
Eur J Endocrinol; 1994 Jun; 130(6):569-74. PubMed ID: 8205256
[TBL] [Abstract][Full Text] [Related]
6. Mutations of androgen receptor gene in androgen insensitivity syndromes.
Sultan C; Lumbroso S; Poujol N; Belon C; Boudon C; Lobaccaro JM
J Steroid Biochem Mol Biol; 1993 Nov; 46(5):519-30. PubMed ID: 8240973
[TBL] [Abstract][Full Text] [Related]
7. 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.
Lubahn DB; Brown TR; Simental JA; Higgs HN; Migeon CJ; Wilson EM; French FS
Proc Natl Acad Sci U S A; 1989 Dec; 86(23):9534-8. PubMed ID: 2594783
[TBL] [Abstract][Full Text] [Related]
8. Single nucleotide substitution of the androgen receptor gene in a case with receptor-positive androgen insensitivity syndrome (complete form).
Kasumi H; Komori S; Yamasaki N; Shima H; Isojima S
Acta Endocrinol (Copenh); 1993 Apr; 128(4):355-60. PubMed ID: 8498155
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. A single nucleotide substitution introduces a premature termination codon into the androgen receptor gene of a patient with receptor-negative androgen resistance.
Marcelli M; Tilley WD; Wilson CM; Wilson JD; Griffin JE; McPhaul MJ
J Clin Invest; 1990 May; 85(5):1522-8. PubMed ID: 2332504
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. DNA analysis of the androgen receptor gene in two cases with complete androgen insensitivity syndrome.
Komori S; Sakata K; Tanaka H; Shima H; Koyama K
J Obstet Gynaecol Res; 1997 Jun; 23(3):277-81. PubMed ID: 9255042
[TBL] [Abstract][Full Text] [Related]
14. Molecular basis of androgen insensitivity.
Brüggenwirth HT; Boehmer AL; Verleun-Mooijman MC; Hoogenboezem T; Kleijer WJ; Otten BJ; Trapman J; Brinkmann AO
J Steroid Biochem Mol Biol; 1996 Aug; 58(5-6):569-75. PubMed ID: 8918984
[TBL] [Abstract][Full Text] [Related]
15. Amber mutation creates a diagnostic MaeI site in the androgen receptor gene of a family with complete androgen insensitivity.
Trifiro M; Prior RL; Sabbaghian N; Pinsky L; Kaufman M; Nylen EG; Belsham DD; Greenberg CR; Wrogemann K
Am J Med Genet; 1991 Sep; 40(4):493-9. PubMed ID: 1720929
[TBL] [Abstract][Full Text] [Related]
16. Reduced expression and normal nucleotide sequence of androgen receptor gene coding and promoter regions in a family with partial androgen insensitivity syndrome.
Choong CS; Sturm MJ; Strophair JA; McCulloch RK; Hurley DM
Clin Endocrinol (Oxf); 1997 Mar; 46(3):281-8. PubMed ID: 9156036
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Androgen receptor gene mutations in 46,XY females with germ cell tumours.
Chen CP; Chern SR; Wang TY; Wang W; Wang KL; Jeng CJ
Hum Reprod; 1999 Mar; 14(3):664-70. PubMed ID: 10221692
[TBL] [Abstract][Full Text] [Related]
20. Molecular features and clinical phenotypes in androgen insensitivity syndrome in the absence and presence of androgen receptor gene mutations.
Holterhus PM; Werner R; Hoppe U; Bassler J; Korsch E; Ranke MB; Dörr HG; Hiort O
J Mol Med (Berl); 2005 Dec; 83(12):1005-13. PubMed ID: 16283146
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
