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Items: 1 to 20 of 219

1.

Androgen receptor point mutations as the underlying molecular defect in 2 patients with androgen insensitivity syndrome.

Radmayr C, Culig Z, Glatzl J, Neuschmid-Kaspar F, Bartsch G, Klocker H.

J Urol. 1997 Oct;158(4):1553-6.

PMID:
9302173
2.

Analysis of a mutant androgen receptor offers a treatment modality in a patient with partial androgen insensitivity syndrome.

Radmayr C, Culig Z, Hobisch A, Corvin S, Bartsch G, Klocker H.

Eur Urol. 1998;33(2):222-6.

PMID:
9519369
3.

Characterization of two point mutations in the androgen receptor gene of patients with perineoscrotal hypospadia.

Kaspar F, Cato AC, Denninger A, Eberle J, Radmayr C, Glatzl J, Bartsch G, Klocker H.

J Steroid Biochem Mol Biol. 1993 Dec;47(1-6):127-35.

PMID:
8274427
4.

Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene.

Weidemann W, Linck B, Haupt H, Mentrup B, Romalo G, Stockklauser K, Brinkmann AO, Schweikert HU, Spindler KD.

Clin Endocrinol (Oxf). 1996 Dec;45(6):733-9.

PMID:
9039340
5.

Point mutation in the DNA binding domain of the androgen receptor in two families with Reifenstein syndrome.

Klocker H, Kaspar F, Eberle J, Uberreiter S, Radmayr C, Bartsch G.

Am J Hum Genet. 1992 Jun;50(6):1318-27.

6.

Partial androgen insensitivity with phenotypic variation caused by androgen receptor mutations that disrupt activation function 2 and the NH(2)- and carboxyl-terminal interaction.

Quigley CA, Tan JA, He B, Zhou ZX, Mebarki F, Morel Y, Forest MG, Chatelain P, Ritzén EM, French FS, Wilson EM.

Mech Ageing Dev. 2004 Oct-Nov;125(10-11):683-95.

PMID:
15541764
7.

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
8.

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
9.

Molecular defects of the androgen receptor.

McPhaul MJ.

J Steroid Biochem Mol Biol. 1999 Apr-Jun;69(1-6):315-22. Review.

PMID:
10419008
10.

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.

PMID:
16151980
11.

Molecular basis of androgen insensitivity.

Brinkmann AO.

Mol Cell Endocrinol. 2001 Jun 20;179(1-2):105-9. Review.

PMID:
11420135
12.

Molecular genetics of human androgen insensitivity.

Brown TR, Scherer PA, Chang YT, Migeon CJ, Ghirri P, Murono K, Zhou Z.

Eur J Pediatr. 1993;152 Suppl 2:S62-9. Review.

PMID:
8339746
13.

Expression of two functionally different androgen receptors in a patient with androgen insensitivity.

Holterhus PM, Sinnecker GH, Wollmann HA, Struve D, Homburg N, Kruse K, Hiort O.

Eur J Pediatr. 1999 Sep;158(9):702-6.

PMID:
10485299
15.

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
16.

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
17.

Partial androgen insensitivity: the Reifenstein syndrome revisited.

Amrhein JA, Klingensmith GJ, Walsh PC, McKusick VA, Migeon CJ.

N Engl J Med. 1977 Aug 18;297(7):350-6.

PMID:
876326
19.

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.

PMID:
16470553
20.

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. doi: 10.1111/j.1365-2265.2008.03462.x. Epub 2008 Oct 26.

PMID:
19178528

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