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Items: 1 to 20 of 135

1.
2.

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
3.

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.

PMID:
16283146
4.
5.
6.

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
7.

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
8.

Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome.

Ahmed SF, Cheng A, Dovey L, Hawkins JR, Martin H, Rowland J, Shimura N, Tait AD, Hughes IA.

J Clin Endocrinol Metab. 2000 Feb;85(2):658-65.

PMID:
10690872
9.

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
10.

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
11.

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.

PMID:
19178528
12.

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
13.

Novel and recurrent mutations in patients with androgen insensitivity syndromes.

Ledig S, Jakubiczka S, Neulen J, Aulepp U, Burck-Lehmann U, Mohnike K, Thiele H, Zierler H, Brewer C, Wieacker P.

Horm Res. 2005;63(6):263-9.

PMID:
15925895
14.

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.

15.

[Androgen insensitivity syndrome. Clinical features and molecular genetics].

Sólyom J, Scheiber D, Fekete G.

Orv Hetil. 2001 Aug 5;142(31):1659-65. Review. Hungarian.

PMID:
11556259
16.

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
17.

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
18.

Androgen insensitivity syndrome: clinical features and molecular defects.

Galani A, Kitsiou-Tzeli S, Sofokleous C, Kanavakis E, Kalpini-Mavrou A.

Hormones (Athens). 2008 Jul-Sep;7(3):217-29. Review.

19.

A practical approach to the detection of androgen receptor gene mutations and pedigree analysis in families with x-linked androgen insensitivity.

Ris-Stalpers C, Hoogenboezem T, Sleddens HF, Verleun-Mooijman MC, Degenhart HJ, Drop SL, Halley DJ, Oosterwijk JC, Hodgins MB, Trapman J, et al.

Pediatr Res. 1994 Aug;36(2):227-34.

PMID:
7970939
20.

Molecular basis of androgen insensitivity.

Brinkmann AO.

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

PMID:
11420135
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