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Items: 1 to 20 of 82

1.

Surface rendering of external genitalia of a fetus at the 32nd week of gestation affected by partial androgen insensitivity syndrome.

Mazza V, Bertucci E, Latella S, Cani C, Ceccarelli P, Iughetti L, Baldinotti F, Percesepe A.

Case Rep Obstet Gynecol. 2013;2013:325714. doi: 10.1155/2013/325714. Epub 2013 Aug 19.

2.

Challenges in clinical and laboratory diagnosis of androgen insensitivity syndrome: a case report.

Melo CO, Silva DM, da Cruz AD.

J Med Case Rep. 2011 Sep 8;5:446. doi: 10.1186/1752-1947-5-446.

3.

Molecular prenatal diagnosis of partial androgen insensitivity syndrome based on the Hind III polymorphism of the androgen receptor gene.

Lobaccaro JM, Belon C, Lumbroso S, Olewniczack G, Carré-Pigeon F, Job JC, Chaussain JL, Toublanc JE, Sultan C.

Clin Endocrinol (Oxf). 1994 Mar;40(3):297-302.

PMID:
7910529
4.

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
5.

Disorders of androgen action.

Sultan C, Lumbroso S, Paris F, Jeandel C, Terouanne B, Belon C, Audran F, Poujol N, Georget V, Gobinet J, Jalaguier S, Auzou G, Nicolas JC.

Semin Reprod Med. 2002 Aug;20(3):217-28. Review.

PMID:
12428202
6.

Association of the Hind III polymorphism with the androgen receptor gene in partial androgen insensitivity syndrome.

Lobaccaro JM, Belon C, Ruiz-Pacheco R, Heinrichs C, Van Regemorter N, Terraza A, Sultan C.

Ann Genet. 1991;34(1):9-13.

PMID:
1683208
7.

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
8.

[Differential diagnosis and treatment of girls with 46XY-karyotype and androgen insensitivity syndrome].

Drop SL, Boehmer AL, Slijper FM, Nijman JM, Hazebroek FW, Niermeijer MF.

Ned Tijdschr Geneeskd. 2001 Apr 7;145(14):665-9. Review. Dutch.

PMID:
11530701
9.

Prenatal prediction of androgen insensitivity syndrome using exon 1 polymorphism of the androgen receptor gene.

Lobaccaro JM, Lumbroso S, Pigeon FC, Chaussain JL, Toublanc JE, Job JC, Olewniczack G, Boulot P, Sultan C.

J Steroid Biochem Mol Biol. 1992 Dec;43(7):659-63.

PMID:
1472458
10.

Undervirilization in XY newborns may hide a 5α-reductase deficiency: report of three new SRD5A2 gene mutations.

Maimoun L, Philibert P, Cammas B, Audran F, Pienkowski C, Kurtz F, Heinrich C, Cartigny M, Sultan C.

Int J Androl. 2010 Dec;33(6):841-7. doi: 10.1111/j.1365-2605.2009.01036.x.

PMID:
20132346
11.

Congenital adrenal hyperplasia: update on prenatal diagnosis and treatment.

Carlson AD, Obeid JS, Kanellopoulou N, Wilson RC, New MI.

J Steroid Biochem Mol Biol. 1999 Apr-Jun;69(1-6):19-29. Review.

PMID:
10418977
12.

'Idiopathic' partial androgen insensitivity syndrome in 28 newborn and infant males: impact of prenatal exposure to environmental endocrine disruptor chemicals?

Gaspari L, Paris F, Philibert P, Audran F, Orsini M, Servant N, Maïmoun L, Kalfa N, Sultan C.

Eur J Endocrinol. 2011 Oct;165(4):579-87. doi: 10.1530/EJE-11-0580. Epub 2011 Jul 25.

13.

Molecular prenatal exclusion of familial partial androgen insensitivity (Reifenstein syndrome)

Lumbroso S, Lobaccaro JM, Belon C, Amram S, Bachelard B, Garandeau P, Sultan C.

Eur J Endocrinol. 1994 Apr;130(4):327-32.

PMID:
7909256
14.

Molecular basis of androgen insensitivity.

Brinkmann AO.

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

PMID:
11420135
15.

Androgen insensitivity syndrome: in utero diagnosis by four-dimensional sonography and amniotic fluid karyotype.

Bonilla-Musoles F, Kushner-Dávalos L, Raga F, Machado LE, Osborne NG.

J Clin Ultrasound. 2006 Jan;34(1):30-2.

PMID:
16353232
16.

Prenatal diagnosis of a fetus with androgen insensitivity syndrome (AIS).

Yalinkaya A, Yayla M, Erdemoglu M.

Prenat Diagn. 2007 Sep;27(9):856-7.

PMID:
17605153
17.

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
18.

Clinical, biochemical and morphologic diagnostic markers in an infant male pseudohermaphrodite patient with compound heterozygous mutations (G115D/R246W) in SRD5A2 gene.

Fernández-Cancio M, Rodó J, Andaluz P, Martínez de Osaba MJ, Rodríguez-Hierro F, Esteban C, Carrascosa A, Audí L.

Horm Res. 2004;62(5):259-64. Epub 2004 Nov 2.

PMID:
15528927
19.

[Morris syndrome: description of a case characterized by partial androgen insensitivity].

Creta M, Smelzo S, Di Vito C, De Stefano G, Forchia F, Chiancone F, Imbimbo C.

Urologia. 2010 Oct-Dec;77(4):271-3. Italian.

PMID:
21234872
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