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2:

Intrinsic androgen-dependent gene expression patterns revealed by comparison of genital fibroblasts from normal males and individuals with complete and partial androgen insensitivity syndrome.

Holterhus PM, Deppe U, Werner R, Richter-Unruh A, Bebermeier JH, Wünsch L, Krege S, Schweikert HU, Demeter J, Riepe F, Hiort O, Brooks JD.

BMC Genomics. 2007 Oct 18;8:376.

PMID: 17945006 [PubMed - indexed for MEDLINE]

3:

Phenotypic variation in a family with partial androgen insensitivity syndrome explained by differences in 5alpha dihydrotestosterone availability.

Boehmer AL, Brinkmann AO, Nijman RM, Verleun-Mooijman MC, de Ruiter P, Niermeijer MF, Drop SL.

J Clin Endocrinol Metab. 2001 Mar;86(3):1240-6.

PMID: 11238515 [PubMed - indexed for MEDLINE]

4:

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 [PubMed - indexed for MEDLINE]

5:

Molecular basis of androgen insensitivity.

Brinkmann AO.

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

PMID: 11420135 [PubMed - indexed for MEDLINE]

6:

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. 2005 Dec;83(12):1005-13. Epub 2005 Nov 11.

PMID: 16283146 [PubMed - indexed for MEDLINE]

7:

Cell-line and tissue-specific signatures of androgen receptor-coregulator transcription.

Bebermeier JH, Brooks JD, DePrimo SE, Werner R, Deppe U, Demeter J, Hiort O, Holterhus PM.

J Mol Med. 2006 Nov;84(11):919-31. Epub 2006 Aug 24.

PMID: 16932916 [PubMed - indexed for MEDLINE]

8:

Physiology and pathophysiology of androgen action.

Hiort O, Holterhus PM, Nitsche EM.

Baillieres Clin Endocrinol Metab. 1998 Apr;12(1):115-32. Review.

PMID: 9890064 [PubMed - indexed for MEDLINE]

9:

Characterization of mutant androgen receptors causing partial androgen insensitivity syndrome.

De Bellis A, Quigley CA, Marschke KB, el-Awady MK, Lane MV, Smith EP, Sar M, Wilson EM, French FS.

J Clin Endocrinol Metab. 1994 Mar;78(3):513-22.

PMID: 8126121 [PubMed - indexed for MEDLINE]

10:

Transcription of androgen receptor and 5alpha-reductase II in genital fibroblasts from patients with androgen insensitivity syndrome.

Hellwinkel OJ, Bassler J, Hiort O.

J Steroid Biochem Mol Biol. 2000 Dec 31;75(4-5):213-8.

PMID: 11282274 [PubMed - indexed for MEDLINE]

11:

Single base mutations in the human androgen receptor gene causing complete androgen insensitivity: rapid detection by a modified denaturing gradient gel electrophoresis technique.

De Bellis A, Quigley CA, Cariello NF, el-Awady MK, Sar M, Lane MV, Wilson EM, French FS.

Mol Endocrinol. 1992 Nov;6(11):1909-20.

PMID: 1480178 [PubMed - indexed for MEDLINE]

12:

Decreased expression of IGF-II and its binding protein, IGF-binding protein-2, in genital skin fibroblasts of patients with complete androgen insensitivity syndrome compared with normally virilized males.

Elmlinger MW, Mayer I, Schnabel D, Schuett BS, Diesing D, Romalo G, Wollmann HA, Weidemann W, Spindler KD, Ranke MB, Schweikert HU.

J Clin Endocrinol Metab. 2001 Oct;86(10):4741-6.

PMID: 11600534 [PubMed - indexed for MEDLINE]

13:

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. Erratum in: J Clin Endocrinol Metab 2002 Jul;87(7):3109.

PMID: 11549642 [PubMed - indexed for MEDLINE]

14:

Androgen receptor binding studies on heterozygotes in a family with androgen insensitivity syndrome.

MacLean HE, Chu S, Joske F, Warne GL, Zajac JD.

Biochem Mol Med. 1995 Jun;55(1):31-7.

PMID: 7551823 [PubMed - indexed for MEDLINE]

15:

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 [PubMed - indexed for MEDLINE]

16:

Substitution of valine-865 by methionine or leucine in the human androgen receptor causes complete or partial androgen insensitivity, respectively with distinct androgen receptor phenotypes.

Kazemi-Esfarjani P, Beitel LK, Trifiro M, Kaufman M, Rennie P, Sheppard P, Matusik R, Pinsky L.

Mol Endocrinol. 1993 Jan;7(1):37-46.

PMID: 8446106 [PubMed - indexed for MEDLINE]

17:

Complete androgen insensitivity without Wolffian duct development: the AR-A form of the androgen receptor is not sufficient for male genital development.

Barbaro M, Oscarson M, Almskog I, Hamberg H, Wedell A.

Clin Endocrinol (Oxf). 2007 Jun;66(6):822-6. Epub 2007 Apr 4.

PMID: 17408421 [PubMed - indexed for MEDLINE]

18:

Androgen binding in nuclear matrix of human genital skin fibroblasts from patients with androgen insensitivity syndrome.

Brown TR, Migeon CJ.

J Clin Endocrinol Metab. 1986 Mar;62(3):542-50.

PMID: 3944238 [PubMed - indexed for MEDLINE]

19:

Androgen insensitivity syndrome: somatic mosaicism of the androgen receptor in seven families and consequences for sex assignment and genetic counseling.

Köhler B, Lumbroso S, Leger J, Audran F, Grau ES, Kurtz F, Pinto G, Salerno M, Semitcheva T, Czernichow P, Sultan C.

J Clin Endocrinol Metab. 2005 Jan;90(1):106-11. Epub 2004 Nov 2.

PMID: 15522944 [PubMed - indexed for MEDLINE]

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