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Journal Abstract Search

128 related items for PubMed ID: 23796702

  • 1. 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; 7(6):277-81. PubMed ID: 23796702
    [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; 10(10):2586-9. PubMed ID: 22594312
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. 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
    [Abstract] [Full Text] [Related]

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

  • 6. 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]

  • 7. 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 Jun 01; 25(5-6):561-3. PubMed ID: 22876557
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. [Severe 46,XY virilization deficit due to 17beta-hydroxysteroid dehydrogenase deficiency].
    Twesten W, Johannisson R, Holterhus PM, Hiort O.
    Klin Padiatr; 2002 Sep 01; 214(5):314-5. PubMed ID: 12235550
    [Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. 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 Nov 01; 5(6):273-6. PubMed ID: 22212252
    [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 01; 27(11):890-4. PubMed ID: 21214500
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. 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 02; 84(12):4713-21. PubMed ID: 10599740
    [Abstract] [Full Text] [Related]

  • 16. 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 02; 28(7-8):961-5. PubMed ID: 25879310
    [Abstract] [Full Text] [Related]

  • 17. 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 02; 69(3):650-654. PubMed ID: 32372306
    [Abstract] [Full Text] [Related]

  • 18. 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 02; 227():106235. PubMed ID: 36563763
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 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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