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Items: 1 to 20 of 167

1.

Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: five novel mutations in the androgen receptor gene.

Melo KF, Mendonca BB, Billerbeck AE, Costa EM, Inácio M, Silva FA, Leal AM, Latronico AC, Arnhold IJ.

J Clin Endocrinol Metab. 2003 Jul;88(7):3241-50.

PMID:
12843171
2.

Molecular basis of androgen insensitivity.

Brinkmann AO.

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

PMID:
11420135
3.

[Androgen insensitivity syndrome: clinical, hormonal and molecular analysis of 33 cases].

Melo KF, Mendonça BB, Billerbeck AE, Costa EM, Latronico AC, Arnhold IJ.

Arq Bras Endocrinol Metabol. 2005 Feb;49(1):87-97. Epub 2006 Mar 16. Portuguese.

4.

Male patients with partial androgen insensitivity syndrome: a longitudinal follow-up of growth, reproductive hormones and the development of gynaecomastia.

Hellmann P, Christiansen P, Johannsen TH, Main KM, Duno M, Juul A.

Arch Dis Child. 2012 May;97(5):403-9. doi: 10.1136/archdischild-2011-300584. Epub 2012 Mar 12.

PMID:
22412043
5.

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
6.

Partial androgen insensitivity syndrome with R840H mutation in androgen receptor: report of one case.

Yen JL, Chang KH, Sheu JC, Lee YJ, Tsai LP.

Acta Paediatr Taiwan. 2005 Mar-Apr;46(2):101-5.

PMID:
16302589
7.

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
8.
9.

Puberty in subjects with complete androgen insensitivity syndrome.

Papadimitriou DT, Linglart A, Morel Y, Chaussain JL.

Horm Res. 2006;65(3):126-31. Epub 2006 Feb 16.

PMID:
16491011
10.

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. Epub 2005 May 26.

PMID:
15925895
11.

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
12.

AR and SRD5A2 gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity.

Akcay T, Fernandez-Cancio M, Turan S, Güran T, Audi L, Bereket A.

Andrology. 2014 Jul;2(4):572-8. doi: 10.1111/j.2047-2927.2014.00215.x. Epub 2014 Apr 16.

13.

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
14.

Androgen Insensitivity Syndrome.

Gottlieb B, Beitel LK, Trifiro MA.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
1999 Mar 24 [updated 2014 Jul 10].

15.

Complete androgen insensitivity syndrome in a black South African family: a clinical and molecular investigation.

Scott EC, Greenberg TS, Arndt S, Ramsay M, Shires R.

Endocr Pract. 2006 Nov-Dec;12(6):664-9.

PMID:
17229664
16.

Postnatal changes of T, LH, and FSH in 46,XY infants with mutations in the AR gene.

Bouvattier C, Carel JC, Lecointre C, David A, Sultan C, Bertrand AM, Morel Y, Chaussain JL.

J Clin Endocrinol Metab. 2002 Jan;87(1):29-32.

PMID:
11788616
17.

Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.

Audi L, Fernández-Cancio M, Carrascosa A, Andaluz P, Torán N, Piró C, Vilaró E, Vicens-Calvet E, Gussinyé M, Albisu MA, Yeste D, Clemente M, Hernández de la Calle I, Del Campo M, Vendrell T, Blanco A, Martínez-Mora J, Granada ML, Salinas I, Forn J, Calaf J, Angerri O, Martínez-Sopena MJ, Del Valle J, García E, Gracia-Bouthelier R, Lapunzina P, Mayayo E, Labarta JI, Lledó G, Sánchez Del Pozo J, Arroyo J, Pérez-Aytes A, Beneyto M, Segura A, Borrás V, Gabau E, Caimarí M, Rodríguez A, Martínez-Aedo MJ, Carrera M, Castaño L, Andrade M, Bermúdez de la Vega JA; Grupo de Apoyo al Síndrome de Insensibilidad a los Andrógenos (GrApSIA).

J Clin Endocrinol Metab. 2010 Apr;95(4):1876-88. doi: 10.1210/jc.2009-2146. Epub 2010 Feb 11.

PMID:
20150575
18.

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.

19.

Assessment of the gonadotrophin-gonadal axis in androgen insensitivity syndrome.

Ahmed SF, Cheng A, Hughes IA.

Arch Dis Child. 1999 Apr;80(4):324-9.

20.
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