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171 related items for PubMed ID: 25064799

  • 1. 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]

  • 2. 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 01; 165(Pt A):79-85. PubMed ID: 27163392
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. 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 01; 172(6):745-51. PubMed ID: 25740850
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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 Jan 01; 7(6):277-81. PubMed ID: 23796702
    [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. 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]

  • 9. 46,XY Sex Development Defect due to a Novel Homozygous (Splice Site) c.673_1G>C Variation in the HSD17B3 Gene: Case Report.
    Çiftci N, Kayaş L, Çamtosun E, Akıncı A.
    J Clin Res Pediatr Endocrinol; 2022 Jun 07; 14(2):233-238. PubMed ID: 33389920
    [Abstract] [Full Text] [Related]

  • 10. 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 07; 165(Pt A):86-94. PubMed ID: 26956191
    [Abstract] [Full Text] [Related]

  • 11. 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 07; 227():106235. PubMed ID: 36563763
    [Abstract] [Full Text] [Related]

  • 12. 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 07; 28(5-6):623-8. PubMed ID: 25536660
    [Abstract] [Full Text] [Related]

  • 13. 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 07; 27(11):890-4. PubMed ID: 21214500
    [Abstract] [Full Text] [Related]

  • 14. 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 07; 28(7-8):961-5. PubMed ID: 25879310
    [Abstract] [Full Text] [Related]

  • 15. Prepubertal and pubertal gonadal morphology, expression of cell lineage markers and hormonal evaluation in two 46,XY siblings with 17β-hydroxysteroid dehydrogenase 3 deficiency.
    von Spreckelsen B, Aksglaede L, Johannsen TH, Nielsen JE, Main KM, Jørgensen A, Jensen RB.
    J Pediatr Endocrinol Metab; 2022 Jul 26; 35(7):953-961. PubMed ID: 35411763
    [Abstract] [Full Text] [Related]

  • 16. [Severe 46,XY virilization deficit due to 17beta-hydroxysteroid dehydrogenase deficiency].
    Twesten W, Johannisson R, Holterhus PM, Hiort O.
    Klin Padiatr; 2002 Jul 26; 214(5):314-5. PubMed ID: 12235550
    [Abstract] [Full Text] [Related]

  • 17. 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 26; 7(3):249-52. PubMed ID: 26831562
    [Abstract] [Full Text] [Related]

  • 18. 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 26; 56(8):533-9. PubMed ID: 23295294
    [Abstract] [Full Text] [Related]

  • 19. Novel mutation among two sisters with 17β hydroxysteroid dehydrogenase type 3 deficiency.
    Massanyi EZ, Gearhart JP, Kolp LA, Migeon CJ.
    Urology; 2013 May 26; 81(5):1069-71. PubMed ID: 23375913
    [Abstract] [Full Text] [Related]

  • 20. Novel mutations of HSD17B3 in three Chinese patients with 46,XY Disorders of Sex Development.
    Yu B, Liu Z, Mao J, Wang X, Zheng J, Xiong S, Cui M, Ma W, Huang Q, Xu H, Huang B, Nie M, Wu X.
    Steroids; 2017 Oct 26; 126():1-6. PubMed ID: 28774765
    [Abstract] [Full Text] [Related]

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