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Items: 1 to 20 of 199

1.

Molecular analysis of the androgen-receptor gene in a family with receptor-positive partial androgen insensitivity: an unusual type of intronic mutation.

Brüggenwirth HT, Boehmer AL, Ramnarain S, Verleun-Mooijman MC, Satijn DP, Trapman J, Grootegoed JA, Brinkmann AO.

Am J Hum Genet. 1997 Nov;61(5):1067-77.

2.

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
3.

Differential splicing of human androgen receptor pre-mRNA in X-linked Reifenstein syndrome, because of a deletion involving a putative branch site.

Ris-Stalpers C, Verleun-Mooijman MC, de Blaeij TJ, Degenhart HJ, Trapman J, Brinkmann AO.

Am J Hum Genet. 1994 Apr;54(4):609-17. Erratum in: Am J Hum Genet 1994 Aug;55(2):419.

4.

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
5.

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
6.

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.

PMID:
10999818
7.

Aberrant splicing of androgen receptor mRNA results in synthesis of a nonfunctional receptor protein in a patient with androgen insensitivity.

Ris-Stalpers C, Kuiper GG, Faber PW, Schweikert HU, van Rooij HC, Zegers ND, Hodgins MB, Degenhart HJ, Trapman J, Brinkmann AO.

Proc Natl Acad Sci U S A. 1990 Oct;87(20):7866-70.

8.
9.

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.

PMID:
9196614
10.

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. doi: 10.1016/j.fertnstert.2008.10.041. Epub 2008 Dec 4.

PMID:
19062009
11.
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.

PMID:
7537149
13.

A single base mutation in the androgen receptor gene causes androgen insensitivity in the testicular feminized rat.

Yarbrough WG, Quarmby VE, Simental JA, Joseph DR, Sar M, Lubahn DB, Olsen KL, French FS, Wilson EM.

J Biol Chem. 1990 May 25;265(15):8893-900.

14.

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
15.

A novel mutation F826L in the human androgen receptor in partial androgen insensitivity syndrome; increased NH2-/COOH-terminal domain interaction and TIF2 co-activation.

Wong HY, Hoogerbrugge JW, Pang KL, van Leeuwen M, van Royen ME, Molier M, Berrevoets CA, Dooijes D, Dubbink HJ, van de Wijngaart DJ, Wolffenbuttel KP, Trapman J, Kleijer WJ, Drop SL, Grootegoed JA, Brinkmann AO.

Mol Cell Endocrinol. 2008 Sep 24;292(1-2):69-78. doi: 10.1016/j.mce.2008.06.016. Epub 2008 Jul 5.

PMID:
18656523
16.

A novel mutation (N233K) in the transactivating domain and the N756S mutation in the ligand binding domain of the androgen receptor gene are associated with male infertility.

Giwercman YL, Nikoshkov A, Byström B, Pousette A, Arver S, Wedell A.

Clin Endocrinol (Oxf). 2001 Jun;54(6):827-34.

PMID:
11422119
17.

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.

PMID:
9156036
18.

[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. doi: 10.3760/cma.j.issn.1003-9406.2009.06.001. Chinese.

PMID:
19953479
19.

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