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Results: 1 to 20 of 99

1.

46,XY Disorder of Sex Development in a Sudanese Patient Caused by a Novel Mutation in the HSD17B3 Gene.

Ellaithi M, Werner R, Riepe FG, Krone N, Kulle AE, Diab T, Kamel AK, Arlt W, Holterhus PM, Sabir O, Hiort O.

Sex Dev. 2014 Jun 12. [Epub ahead of print]

PMID:
24941935
[PubMed - as supplied by publisher]
2.

Clinical and molecular spectrum of patients with 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency.

Castro CC, Guaragna-Filho G, Calais FL, Coeli FB, Leal IR, Cavalcante-Junior EF, Monlleó IL, Pereira SR, Silva RB, Gabiatti JR, Marques-de-Faria AP, Maciel-Guerra AT, Mello MP, Guerra-Junior G.

Arq Bras Endocrinol Metabol. 2012 Nov;56(8):533-9.

PMID:
23295294
[PubMed - indexed for MEDLINE]
Free Article
3.

A novel nonsense mutation in HSD17B3 gene in a Tunisian patient with sexual ambiguity.

Ben Rhouma B, Belguith N, Mnif MF, Kamoun T, Charfi N, Kamoun M, Abdelhedi F, Hachicha M, Kamoun H, Abid M, Fakhfakh F.

J Sex Med. 2013 Oct;10(10):2586-9. doi: 10.1111/j.1743-6109.2012.02763.x. Epub 2012 May 17.

PMID:
22594312
[PubMed - indexed for MEDLINE]
4.

Phenotypic variability in 17beta-hydroxysteroid dehydrogenase-3 deficiency and diagnostic pitfalls.

Lee YS, Kirk JM, Stanhope RG, Johnston DI, Harland S, Auchus RJ, Andersson S, Hughes IA.

Clin Endocrinol (Oxf). 2007 Jul;67(1):20-8. Epub 2007 Apr 27.

PMID:
17466011
[PubMed - indexed for MEDLINE]
5.

17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite.

Mains LM, Vakili B, Lacassie Y, Andersson S, Lindqvist A, Rock JA.

Fertil Steril. 2008 Jan;89(1):228.e13-7. Epub 2007 May 16.

PMID:
17509588
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Duplication of exons 3-10 of the HSD17B3 gene: a novel type of genetic defect underlying 17β-HSD-3 deficiency.

Neocleous V, Sismani C, Shammas C, Efstathiou E, Alexandrou A, Ioannides M, Argyrou M, Patsalis PC, Phylactou LA, Skordis N.

Gene. 2012 May 15;499(2):250-5. doi: 10.1016/j.gene.2012.03.031. Epub 2012 Mar 13.

PMID:
22445608
[PubMed - indexed for MEDLINE]
7.

A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism.

Bilbao JR, Loridan L, Audí L, Gonzalo E, Castaño L.

Eur J Endocrinol. 1998 Sep;139(3):330-3.

PMID:
9758445
[PubMed - indexed for MEDLINE]
Free Article
8.

Complexities of gender assignment in 17β-hydroxysteroid dehydrogenase type 3 deficiency: is there a role for early orchiectomy?

Chuang J, Vallerie A, Breech L, Saal HM, Alam S, Crawford P, Rutter MM.

Int J Pediatr Endocrinol. 2013 Sep 12;2013(1):15. doi: 10.1186/1687-9856-2013-15.

PMID:
24025597
[PubMed]
Free PMC Article
9.

A novel nonsense mutation in exon 1 of HSD17B3 gene in an Egyptian 46,XY adult female presenting with primary amenorrhea.

Hassan HA, Mazen I, Gad YZ, Ali OS, Mekkawy M, Essawi ML.

Sex Dev. 2013;7(6):277-81. doi: 10.1159/000351822. Epub 2013 Jun 18.

PMID:
23796702
[PubMed - in process]
10.

Novel mutation among two sisters with 17β hydroxysteroid dehydrogenase type 3 deficiency.

Massanyi EZ, Gearhart JP, Kolp LA, Migeon CJ.

Urology. 2013 May;81(5):1069-71. doi: 10.1016/j.urology.2012.12.024. Epub 2013 Jan 30.

PMID:
23375913
[PubMed - indexed for MEDLINE]
11.

The 17β-hydroxysteroid dehydrogenase type 3 deficiency: a case report of an 18-year patient and review of the literature.

Galdiero M, Vitale P, Simeoli C, Afeltra L, Melis D, Alviggi C, Cariati F, Lo Calzo F, Di Somma C, Colao A, Pivonello R.

Minerva Endocrinol. 2013 Mar;38(1):113-22. Review.

PMID:
23435447
[PubMed - indexed for MEDLINE]
12.

17beta-Hydroxysteroid dehydrogenase-3 deficiency: from pregnancy to adolescence.

Bertelloni S, Balsamo A, Giordani L, Fischetto R, Russo G, Delvecchio M, Gennari M, Nicoletti A, Maggio MC, Concolino D, Cavallo L, Cicognani A, Chiumello G, Hiort O, Baroncelli GI, Faienza MF.

J Endocrinol Invest. 2009 Sep;32(8):666-70. doi: 10.3275/6281. Epub 2009 May 12.

PMID:
19498320
[PubMed - indexed for MEDLINE]
13.

17beta-hydroxysteroid dehydrogenase type 3 deficiency as a result of a homozygous 7 base pair deletion in 17betaHSD3 gene.

Alikasifoglu A, Hiort O, Gonc N, Demirbilek H, Isik E, Kandemir N.

J Pediatr Endocrinol Metab. 2012;25(5-6):561-3.

PMID:
22876557
[PubMed - indexed for MEDLINE]
14.

17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations.

Boehmer AL, Brinkmann AO, Sandkuijl LA, Halley DJ, Niermeijer MF, Andersson S, de Jong FH, Kayserili H, de Vroede MA, Otten BJ, Rouwé CW, Mendonça BB, Rodrigues C, Bode HH, de Ruiter PE, Delemarre-van de Waal HA, Drop SL.

J Clin Endocrinol Metab. 1999 Dec;84(12):4713-21.

PMID:
10599740
[PubMed - indexed for MEDLINE]
15.

Clinical, endocrine, and molecular findings in 17beta-hydroxysteroid dehydrogenase type 3 deficiency.

Faienza MF, Giordani L, Delvecchio M, Cavallo L.

J Endocrinol Invest. 2008 Jan;31(1):85-91. Review.

PMID:
18296911
[PubMed - indexed for MEDLINE]
16.

A (R80Q) mutation in 17 beta-hydroxysteroid dehydrogenase type 3 gene among Arabs of Israel is associated with pseudohermaphroditism in males and normal asymptomatic females.

Rösler A, Silverstein S, Abeliovich D.

J Clin Endocrinol Metab. 1996 May;81(5):1827-31.

PMID:
8626842
[PubMed - indexed for MEDLINE]
17.

17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population.

Rosler A.

Pediatr Endocrinol Rev. 2006 Aug;3 Suppl 3:455-61. Erratum in: Pediatr Endocrinol Rev. 2007 Sep;5(1):470.

PMID:
17551466
[PubMed - indexed for MEDLINE]
18.

The identification of 5 alpha-reductase-2 and 17 beta-hydroxysteroid dehydrogenase-3 gene defects in male pseudohermaphrodites from a Turkish kindred.

Can S, Zhu YS, Cai LQ, Ling Q, Katz MD, Akgun S, Shackleton CH, Imperato-McGinley J.

J Clin Endocrinol Metab. 1998 Feb;83(2):560-9.

PMID:
9467575
[PubMed - indexed for MEDLINE]
19.

[Severe 46,XY virilization deficit due to 17beta-hydroxysteroid dehydrogenase deficiency].

Twesten W, Johannisson R, Holterhus PM, Hiort O.

Klin Padiatr. 2002 Sep-Oct;214(5):314-5. German.

PMID:
12235550
[PubMed - indexed for MEDLINE]
20.

Isolated mild clitoral hypertrophy may reveal 46,XY disorders of sex development in infancy due to 17βHSD-3 defect confirmed by molecular analysis.

George MM, Sinha S, Mamkin I, Philibert P, New MI, Wilson RC, Sultan C, Ten S, Bhangoo A.

Gynecol Endocrinol. 2011 Nov;27(11):890-4. doi: 10.3109/09513590.2010.544134. Epub 2011 Jan 10.

PMID:
21214500
[PubMed - indexed for MEDLINE]

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