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Items: 1 to 20 of 54

1.

Biochemical Analysis of Four Missense Mutations in the HSD17B3 Gene Associated With 46,XY Disorders of Sex Development in Egyptian Patients.

Engeli RT, Tsachaki M, Hassan HA, Sager CP, Essawi ML, Gad YZ, Kamel AK, Mazen I, Odermatt A.

J Sex Med. 2017 Sep;14(9):1165-1174. doi: 10.1016/j.jsxm.2017.07.006.

PMID:
28859874
2.

Mutational Profile of 10 Afflicted Egyptian Families with 17-β-HSD-3 Deficiency.

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

Sex Dev. 2016;10(2):66-73. doi: 10.1159/000445311. Epub 2016 Apr 14.

PMID:
27073926
3.

Novel cases of Tunisian patients with mutations in the gene encoding 17β-hydroxysteroid dehydrogenase type 3 and a founder effect.

Ben Rhouma B, Kallabi F, Mahfoudh N, Ben Mahmoud A, Engeli RT, Kamoun H, Keskes L, Odermatt A, Belguith N.

J Steroid Biochem Mol Biol. 2017 Jan;165(Pt A):86-94. doi: 10.1016/j.jsbmb.2016.03.007. Epub 2016 Mar 5.

PMID:
26956191
4.

17βHSD-3 enzyme deficiency due to novel mutations in the HSD17B3 gene diagnosed in a neonate.

Sagsak E, Aycan Z, Savas-Erdeve S, Keskin M, Cetinkaya S, Karaer K.

J Pediatr Endocrinol Metab. 2015 Jul;28(7-8):957-9. doi: 10.1515/jpem-2014-0354.

PMID:
25894637
5.

Two different patterns of mini-puberty in two 46,XY newborns with 17β-hydroxysteroid dehydrogenase type 3 deficiency.

Demir K, Yıldız M, Elmas ÖN, Korkmaz HA, Tunç S, Olukman Ö, Hazan F, Özkan KU, Özkan B.

J Pediatr Endocrinol Metab. 2015 Jul;28(7-8):961-5. doi: 10.1515/jpem-2014-0365.

PMID:
25879310
6.

Screening for mutations in 17β-hydroxysteroid dehydrogenase and androgen receptor in women presenting with partially virilised 46,XY disorders of sex development.

Phelan N, Williams EL, Cardamone S, Lee M, Creighton SM, Rumsby G, Conway GS.

Eur J Endocrinol. 2015 Jun;172(6):745-51. doi: 10.1530/EJE-14-0994. Epub 2015 Mar 4.

7.

A novel missense mutation in HSD17B3 gene in a 46, XY adolescent presenting with primary amenorrhea and virilization at puberty.

Tuhan HU, Anik A, Catli G, Ceylaner S, Dundar B, Bober E, Abaci A.

Clin Chim Acta. 2015 Jan 1;438:154-6. doi: 10.1016/j.cca.2014.07.025. Epub 2014 Jul 24.

PMID:
25064799
8.

Relationship between testosterone level and early repolarization on 12-lead electrocardiograms in men.

Junttila MJ, Tikkanen JT, Porthan K, Oikarinen L, Jula A, Kenttä T, Salomaa V, Huikuri HV.

J Am Coll Cardiol. 2013 Oct 22;62(17):1633-4. doi: 10.1016/j.jacc.2013.07.015. Epub 2013 Jul 31. No abstract available.

9.

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
10.

The microsomal enzyme 17β-hydroxysteroid dehydrogenase 3 faces the cytoplasm and uses NADPH generated by glucose-6-phosphate dehydrogenase.

Legeza B, Balázs Z, Nashev LG, Odermatt A.

Endocrinology. 2013 Jan;154(1):205-13. doi: 10.1210/en.2012-1778. Epub 2012 Nov 26.

PMID:
23183177
11.

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
12.

Steroid 17β-hydroxysteroid dehydrogenase deficiency in man: an inherited form of male pseudohermaphroditism.

Rösler A.

J Steroid Biochem Mol Biol. 1992 Dec;43(8):989-1002. doi: 10.1016/0960-0760(92)90327-F. Review.

PMID:
22217844
13.

Identification of oxazolidinediones and thiazolidinediones as potent 17β-hydroxysteroid dehydrogenase type 3 inhibitors.

Harada K, Kubo H, Tanaka A, Nishioka K.

Bioorg Med Chem Lett. 2012 Jan 1;22(1):504-7. doi: 10.1016/j.bmcl.2011.10.095. Epub 2011 Nov 12.

PMID:
22137341
14.

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.

15.

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
16.

Association of the G289S single nucleotide polymorphism in the HSD17B3 gene with prostate cancer in Italian men.

Margiotti K, Kim E, Pearce CL, Spera E, Novelli G, Reichardt JK.

Prostate. 2002 Sep 15;53(1):65-8.

PMID:
12210481
17.

Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency.

Lindqvist A, Hughes IA, Andersson S.

J Clin Endocrinol Metab. 2001 Feb;86(2):921-3.

PMID:
11158067
18.

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.

19.

Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3).

Moghrabi N, Hughes IA, Dunaif A, Andersson S.

J Clin Endocrinol Metab. 1998 Aug;83(8):2855-60.

PMID:
9709959

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