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200 related items for PubMed ID: 36077423

  • 1. 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]

  • 2. 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 02; 10(10):2586-9. PubMed ID: 22594312
    [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 02; 165(Pt A):79-85. PubMed ID: 27163392
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. 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 07; 172(6):745-51. PubMed ID: 25740850
    [Abstract] [Full Text] [Related]

  • 6. 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 07; 14(9):1165-1174. PubMed ID: 28859874
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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 07; 56(8):533-9. PubMed ID: 23295294
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 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 07; 212():105908. PubMed ID: 33984517
    [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 07; 28(5-6):623-8. PubMed ID: 25536660
    [Abstract] [Full Text] [Related]

  • 12. 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 07; 155(Pt A):147-54. PubMed ID: 26545797
    [Abstract] [Full Text] [Related]

  • 13. 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 07; 174():141-145. PubMed ID: 28847746
    [Abstract] [Full Text] [Related]

  • 14. 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 07; 7(6):277-81. PubMed ID: 23796702
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. 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]

  • 17. 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 Mar 01; 5(6):273-6. PubMed ID: 22212252
    [Abstract] [Full Text] [Related]

  • 18. 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
    [Abstract] [Full Text] [Related]

  • 19. 17β-hydroxysteroid dehydrogenase type 3 deficiency: female sex assignment and follow-up.
    Faienza MF, Baldinotti F, Marrocco G, TyuTyusheva N, Peroni D, Baroncelli GI, Bertelloni S.
    J Endocrinol Invest; 2020 Dec 01; 43(12):1711-1716. PubMed ID: 32297288
    [Abstract] [Full Text] [Related]

  • 20. Detection of 46, XY Disorder of Sex Development (DSD) Based on Plasma Cell-Free DNA and Targeted Next-Generation Sequencing.
    De Falco L, Piscopo C, D'Angelo R, Evangelista E, Suero T, Sirica R, Ruggiero R, Savarese G, Di Carlo A, Furino G, Scarpato C, Fico A.
    Genes (Basel); 2021 Nov 25; 12(12):. PubMed ID: 34946839
    [Abstract] [Full Text] [Related]

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