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234 related items for PubMed ID: 28859874

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

  • 2. 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]

  • 3. 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]

  • 4. 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]

  • 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. 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]

  • 7. 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]

  • 8. 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 01; 196():105493. PubMed ID: 31614207
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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 01; 212():105908. PubMed ID: 33984517
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. 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 01; 126():1-6. PubMed ID: 28774765
    [Abstract] [Full Text] [Related]

  • 13. Novel Deleterious Mutation in Steroid-5α-Reductase-2 in 46, XY Disorders of Sex Development: Case Report Study.
    Rafigh M, Salmaninejad A, Sorouri Khorashad B, Arabi A, Milanizadeh S, Hiradfar M, Abbaszadegan MR.
    Fetal Pediatr Pathol; 2022 Feb 01; 41(1):141-148. PubMed ID: 32449406
    [Abstract] [Full Text] [Related]

  • 14. 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 Feb 01; 10(2):66-73. PubMed ID: 27073926
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. 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]

  • 17. 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]

  • 18. Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency: A Case Report and Review of 70 Different HSD17B3 Mutations Reported in 239 Patients.
    Gonçalves CI, Carriço J, Bastos M, Lemos MC.
    Int J Mol Sci; 2022 Sep 02; 23(17):. PubMed ID: 36077423
    [Abstract] [Full Text] [Related]

  • 19. Unraveling a case of 46,XY DSD due to 17ß-Hydroxysteroid Dehydrogenase type 3 mutations at the age of 49.
    Garcia A, Legendre M, Chantot-Bastaraud S, Siffroi JP, Christin-Maitre S.
    Ann Endocrinol (Paris); 2023 Apr 02; 84(2):260-264. PubMed ID: 35065919
    [Abstract] [Full Text] [Related]

  • 20. Genetic polymorphisms of 17 β-hydroxysteroid dehydrogenase 3 and the risk of hypospadias.
    Sata F, Kurahashi N, Ban S, Moriya K, Tanaka KD, Ishizuka M, Nakao H, Yahata Y, Imai H, Kakizaki H, Nonomura K, Kishi R.
    J Sex Med; 2010 Aug 02; 7(8):2729-38. PubMed ID: 20059664
    [Abstract] [Full Text] [Related]

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