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Journal Abstract Search

157 related items for PubMed ID: 28739554

  • 21. 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. PubMed ID: 22876557
    [Abstract] [Full Text] [Related]

  • 22. 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. PubMed ID: 9709959
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  • 23. 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. PubMed ID: 18296911
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  • 27. 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]

  • 28. 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 01; 56(8):533-9. PubMed ID: 23295294
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  • 29. 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 Nov 01; 7(6):277-81. PubMed ID: 23796702
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  • 30. 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 01; 84(12):4713-21. PubMed ID: 10599740
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  • 31. Phenotype and molecular characteristics in 45 Chinese children with 5α-reductase type 2 deficiency from South China.
    Cheng J, Lin R, Zhang W, Liu G, Sheng H, Li X, Zhou Z, Mao X, Liu L.
    Clin Endocrinol (Oxf); 2015 Oct 01; 83(4):518-26. PubMed ID: 25899528
    [Abstract] [Full Text] [Related]

  • 32. Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency.
    Lindqvist A, Hughes IA, Andersson S.
    J Clin Endocrinol Metab; 2001 Feb 01; 86(2):921-3. PubMed ID: 11158067
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  • 33. 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 Feb 01; 53(1):26-31. PubMed ID: 10965217
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  • 34. Natural potent androgens: lessons from human genetic models.
    Zhu YS, Katz MD, Imperato-McGinley J.
    Baillieres Clin Endocrinol Metab; 1998 Apr 01; 12(1):83-113. PubMed ID: 9890063
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  • 35. Molecular mechanisms underlying the defects of two novel mutations in the HSD17B3 gene found in the Tunisian population.
    Ben Rhouma B, Kley M, Kallabi F, Kacem FH, Kammoun T, Safi W, Keskes L, Mnif M, Odermatt A, Belguith N.
    J Steroid Biochem Mol Biol; 2023 Mar 01; 227():106235. PubMed ID: 36563763
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  • 36. The novel founder homozygous V225M mutation in the HSD17B3 gene causes aberrant splicing and XY-DSD.
    Levy-Khademi F, Zeligson S, Lavi E, Klopstock T, Chertin B, Avnon-Ziv C, Abulibdeh A, Renbaum P, Rosen T, Perlberg-Bengio S, Zahdeh F, Behar DM, Levy-Lahad E, Zangen D, Segel R.
    Endocrine; 2020 Sep 01; 69(3):650-654. PubMed ID: 32372306
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  • 37. 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 01; 38(1):113-22. PubMed ID: 23435447
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  • 38. Clinical and molecular characterization of 5α-reductase type 2 deficiency due to mutations (p.Q6X, p.R246Q) in SRD5A2 gene.
    Jia W, Zheng D, Zhang L, Li C, Zhang X, Wang F, Guan Q, Fang L, Zhao J, Xu C.
    Endocr J; 2018 Jun 27; 65(6):645-655. PubMed ID: 29643321
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  • 39. [Causes of ambiguous external genitalia in neonates].
    Zdravković D, Milenković T, Sedlecki K, Guć-Sćekić M, Rajić V, Banićević M.
    Srp Arh Celok Lek; 2001 Jun 27; 129(3-4):57-60. PubMed ID: 11534268
    [Abstract] [Full Text] [Related]

  • 40. A Novel Mutation Causing 17-β-Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Omani Child: First Case Report and Review of Literature.
    Al-Sinani A, Mula-Abed WA, Al-Kindi M, Al-Kusaibi G, Al-Azkawi H, Nahavandi N.
    Oman Med J; 2015 Mar 27; 30(2):129-34. PubMed ID: 25960839
    [Abstract] [Full Text] [Related]

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