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Items: 1 to 20 of 78

1.

An androgen receptor gene mutation (A645D) in a boy with a normal phenotype.

Nordenskjöld A, Söderhäll S.

Hum Mutat. 1998;11(4):339.

PMID:
9554755
2.

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.

PMID:
11587068
3.

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.

4.

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.

PMID:
15963062
5.

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. Erratum in: Proc Natl Acad Sci U S A 1990 Jun;87(11):4411.

6.

Altered mRNA expression due to insertion or substitution of thymine at position +3 of two splice-donor sites in the androgen receptor gene.

Trifiro MA, Lumbroso R, Beitel LK, Vasiliou DM, Bouchard J, Deal C, Van Vliet G, Pinsky L.

Eur J Hum Genet. 1997 Jan-Feb;5(1):50-8.

PMID:
9156321
7.

A new missense substitution at a mutational hot spot of the androgen receptor in siblings with complete androgen insensitivity syndrome.

Dörk T, Schnieders F, Jakubiczka S, Wieacker P, Schroeder-Kurth T, Schmidtke J.

Hum Mutat. 1998;11(4):337-9.

PMID:
9554754
8.

Extreme androgen resistance in a kindred with a novel insertion/deletion mutation in exon 5 of the androgen receptor gene.

Vilchis F, Ramos L, Kofman-Alfaro S, Zenteno JC, Méndez JP, Chávez B.

J Hum Genet. 2003;48(7):346-51. Epub 2003 Jun 7.

PMID:
12908100
9.

Androgen receptor gene mutations in human prostate cancer.

Newmark JR, Hardy DO, Tonb DC, Carter BS, Epstein JI, Isaacs WB, Brown TR, Barrack ER.

Proc Natl Acad Sci U S A. 1992 Jul 15;89(14):6319-23.

10.

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.

PMID:
14974091
11.

Novel molecular defects in the androgen receptor gene of Mexican patients with androgen insensitivity.

Chávez B, Vilchis F, Zenteno JC, Larrea F, Kofman-Alfaro S.

Clin Genet. 2001 Mar;59(3):185-8.

PMID:
11260228
12.

Analysis of exon 1 mutations in the androgen receptor gene.

Gottlieb B, Vasiliou DM, Lumbroso R, Beitel LK, Pinsky L, Trifiro MA.

Hum Mutat. 1999;14(6):527-39.

PMID:
10571951
13.

Complete androgen insensitivity syndrome caused by the R855H mutation in the androgen receptor gene.

Skordis N, Lumbroso S, Perikleous M, Sismani C, Patsalis PC, Sultan C.

J Pediatr Endocrinol Metab. 2005 Mar;18(3):309-13.

PMID:
15813610
14.

Molecular analysis of the androgen receptor gene in 4 patients with complete androgen insensitivity.

Komori S, Kasumi H, Sakata K, Tanaka H, Hamada K, Koyama K.

Arch Gynecol Obstet. 1998;261(2):95-100.

PMID:
9544375
15.

Complete androgen insensitivity caused by a splice donor site mutation in intron 2 of the human androgen receptor gene resulting in an exon 2-lacking transcript with premature stop-codon and reduced expression.

Hellwinkel OJ, Bull K, Holterhus PM, Homburg N, Struve D, Hiort O.

J Steroid Biochem Mol Biol. 1999 Jan;68(1-2):1-9. Erratum in: J Steroid Biochem Mol Biol 1999 Nov;71(1-2):91.

PMID:
10215032
16.

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. Epub 2007 Dec 20.

17.

GTG mutation in the start codon of the androgen receptor gene in a family of horses with 64,XY disorder of sex development.

Révay T, Villagómez DA, Brewer D, Chenier T, King WA.

Sex Dev. 2012;6(1-3):108-16. doi: 10.1159/000334049. Epub 2011 Nov 15.

PMID:
22095250
18.

Genetic analysis of a family with 46,XY "female" associated with infertility.

Wang X, Wang XR, Liu MG, Wang Q, Liu JY.

Yi Chuan Xue Bao. 2006 Jan;33(1):19-25.

PMID:
16450583
19.

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.

PMID:
11380707
20.

The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms' tumor.

Barbosa AS, Hadjiathanasiou CG, Theodoridis C, Papathanasiou A, Tar A, Merksz M, Györvári B, Sultan C, Dumas R, Jaubert F, Niaudet P, Moreira-Filho CA, Cotinot C, Fellous M.

Hum Mutat. 1999;13(2):146-53.

PMID:
10094551
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