These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

220 related items for PubMed ID: 26545797

  • 1. 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; 155(Pt A):147-54. PubMed ID: 26545797
    [Abstract] [Full Text] [Related]

  • 2. 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. PubMed ID: 28859874
    [Abstract] [Full Text] [Related]

  • 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. PubMed ID: 26956191
    [Abstract] [Full Text] [Related]

  • 4. 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; 227():106235. PubMed ID: 36563763
    [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. 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]

  • 7. Amino acid substitution of arginine 80 in 17beta-hydroxysteroid dehydrogenase type 3 and its effect on NADPH cofactor binding and oxidation/reduction kinetics.
    McKeever BM, Hawkins BK, Geissler WM, Wu L, Sheridan RP, Mosley RT, Andersson S.
    Biochim Biophys Acta; 2002 Nov 19; 1601(1):29-37. PubMed ID: 12429500
    [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 19; 10(10):2586-9. PubMed ID: 22594312
    [Abstract] [Full Text] [Related]

  • 9. 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 19; 28(5-6):623-8. PubMed ID: 25536660
    [Abstract] [Full Text] [Related]

  • 10. Evaluation of 17β-hydroxysteroid dehydrogenase activity using androgen receptor-mediated transactivation.
    Yazawa T, Imamichi Y, Uwada J, Sekiguchi T, Mikami D, Kitano T, Ida T, Sato T, Nemoto T, Nagata S, Islam Khan MR, Takahashi S, Ushikubi F, Suzuki N, Umezawa A, Taniguchi T.
    J Steroid Biochem Mol Biol; 2020 Feb 19; 196():105493. PubMed ID: 31614207
    [Abstract] [Full Text] [Related]

  • 11. 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 19; 172(6):745-51. PubMed ID: 25740850
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. 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 07; 126():1-6. PubMed ID: 28774765
    [Abstract] [Full Text] [Related]

  • 14. 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 07; 154(1):205-13. PubMed ID: 23183177
    [Abstract] [Full Text] [Related]

  • 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 07; 67(1):20-8. PubMed ID: 17466011
    [Abstract] [Full Text] [Related]

  • 16. 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 07; 83(8):2855-60. PubMed ID: 9709959
    [Abstract] [Full Text] [Related]

  • 17. Whole exome sequencing and functional characterization increase diagnostic yield in siblings with a 46, XY difference of sexual development (DSD).
    Luna SE, Wegner DJ, Gale S, Yang P, Hollander A, St Dennis-Feezle L, Nabhan ZM, Ory DS, Cole FS, Wambach JA.
    J Steroid Biochem Mol Biol; 2021 Sep 07; 212():105908. PubMed ID: 33984517
    [Abstract] [Full Text] [Related]

  • 18. 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 07; 7(3):249-52. PubMed ID: 26831562
    [Abstract] [Full Text] [Related]

  • 19. Characterization of type 12 17beta-hydroxysteroid dehydrogenase, an isoform of type 3 17beta-hydroxysteroid dehydrogenase responsible for estradiol formation in women.
    Luu-The V, Tremblay P, Labrie F.
    Mol Endocrinol; 2006 Feb 07; 20(2):437-43. PubMed ID: 16166196
    [Abstract] [Full Text] [Related]

  • 20. In vitro and in vivo evaluation of a 3β-androsterone derivative as inhibitor of 17β-hydroxysteroid dehydrogenase type 3.
    Roy J, Fournier MA, Maltais R, Kenmogne LC, Poirier D.
    J Steroid Biochem Mol Biol; 2014 May 07; 141():44-51. PubMed ID: 24434282
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 11.