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131 related items for PubMed ID: 27951541

  • 1. Pubertal Development in
17Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency
.
    Hiort O, Marshall L, Birnbaum W, Wünsch L, Holterhus PM, Döhnert U, Werner R.
    Horm Res Paediatr; 2017; 87(5):354-358. PubMed ID: 27951541
    [Abstract] [Full Text] [Related]

  • 2. 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. PubMed ID: 25740850
    [Abstract] [Full Text] [Related]

  • 3. 46,XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency.
    Mendonca BB, Gomes NL, Costa EM, Inacio M, Martin RM, Nishi MY, Carvalho FM, Tibor FD, Domenice S.
    J Steroid Biochem Mol Biol; 2017 Jan; 165(Pt A):79-85. PubMed ID: 27163392
    [Abstract] [Full Text] [Related]

  • 4. 17-β-hydroxysteroid dehydrogenase type 3 deficiency in three adult Iranian siblings.
    Omrani MD, Adamovic T, Grandell U, Saleh-Gargari S, Nordenskjöld A.
    Sex Dev; 2011 Jan; 5(6):273-6. PubMed ID: 22212252
    [Abstract] [Full Text] [Related]

  • 5. 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 01; 438():154-6. PubMed ID: 25064799
    [Abstract] [Full Text] [Related]

  • 6. 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 01; 10(10):2586-9. PubMed ID: 22594312
    [Abstract] [Full Text] [Related]

  • 7. 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 01; 67(1):20-8. PubMed ID: 17466011
    [Abstract] [Full Text] [Related]

  • 8. Severe Undervirilisation in a 46,XY Case Due to a Novel Mutation in HSD17B3 Gene.
    Alikaşifoğlu A, Vurallı D, Hiort O, Gönç N, Özön A, Kandemir N.
    J Clin Res Pediatr Endocrinol; 2015 Sep 01; 7(3):249-52. PubMed ID: 26831562
    [Abstract] [Full Text] [Related]

  • 9. 46,XY Disorder of Sex Development due to 17-Beta Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Infant of Greek Origin.
    Galli-Tsinopoulou A, Serbis A, Kotanidou EP, Litou E, Dokousli V, Mouzaki K, Fanis P, Neocleous V, Skordis N.
    J Clin Res Pediatr Endocrinol; 2018 Mar 01; 10(1):74-78. PubMed ID: 28739554
    [Abstract] [Full Text] [Related]

  • 10. 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 01; 14(9):1165-1174. PubMed ID: 28859874
    [Abstract] [Full Text] [Related]

  • 11. Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency.
    Khattab A, Yuen T, Yau M, Domenice S, Frade Costa EM, Diya K, Muhuri D, Pina CE, Nishi MY, Yang AC, de Mendonça BB, New MI.
    J Pediatr Endocrinol Metab; 2015 May 01; 28(5-6):623-8. PubMed ID: 25536660
    [Abstract] [Full Text] [Related]

  • 12. Steroid 17β-hydroxysteroid dehydrogenase deficiency in man: an inherited form of male pseudohermaphroditism.
    Rösler A.
    J Steroid Biochem Mol Biol; 1992 Dec 01; 43(8):989-1002. PubMed ID: 22217844
    [Abstract] [Full Text] [Related]

  • 13. Biochemical analyses and molecular modeling explain the functional loss of 17β-hydroxysteroid dehydrogenase 3 mutant G133R in three Tunisian patients with 46, XY Disorders of Sex Development.
    Engeli RT, Rhouma BB, Sager CP, Tsachaki M, Birk J, Fakhfakh F, Keskes L, Belguith N, Odermatt A.
    J Steroid Biochem Mol Biol; 2016 Jan 01; 155(Pt A):147-54. PubMed ID: 26545797
    [Abstract] [Full Text] [Related]

  • 14. Novel mutation among two sisters with 17β hydroxysteroid dehydrogenase type 3 deficiency.
    Massanyi EZ, Gearhart JP, Kolp LA, Migeon CJ.
    Urology; 2013 May 01; 81(5):1069-71. PubMed ID: 23375913
    [Abstract] [Full Text] [Related]

  • 15. 17β-Hydroxysteroid dehydrogenase 3 deficiency: Three case reports and a systematic review.
    Yang Z, Ye L, Wang W, Zhao Y, Wang W, Jia H, Dong Z, Chen Y, Wang W, Ning G, Sun S.
    J Steroid Biochem Mol Biol; 2017 Nov 01; 174():141-145. PubMed ID: 28847746
    [Abstract] [Full Text] [Related]

  • 16. Clinical, endocrine, and molecular genetic findings in patients with 17beta-hydroxysteroid dehydrogenase deficiency.
    Twesten W, Holterhus P, Sippell WG, Morlot M, Schumacher H, Schenk B, Hiort O.
    Horm Res; 2000 Nov 01; 53(1):26-31. PubMed ID: 10965217
    [Abstract] [Full Text] [Related]

  • 17. 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 01; 165(Pt A):86-94. PubMed ID: 26956191
    [Abstract] [Full Text] [Related]

  • 18. Testosterone synthesis in patients with 17β-hydroxysteroid dehydrogenase 3 deficiency.
    Werner R, Kulle A, Sommerfeld I, Riepe FG, Wudy S, Hartmann MF, Merz H, Döhnert U, Bertelloni S, Holterhus PM, Hiort O.
    Sex Dev; 2012 Jan 01; 6(4):161-8. PubMed ID: 22398356
    [Abstract] [Full Text] [Related]

  • 19. [Severe 46,XY virilization deficit due to 17beta-hydroxysteroid dehydrogenase deficiency].
    Twesten W, Johannisson R, Holterhus PM, Hiort O.
    Klin Padiatr; 2002 Jan 01; 214(5):314-5. PubMed ID: 12235550
    [Abstract] [Full Text] [Related]

  • 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 01; 27(11):890-4. PubMed ID: 21214500
    [Abstract] [Full Text] [Related]

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