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

282 related items for PubMed ID: 25740850

  • 21. Molecular analysis of the AR and SRD5A2 genes in patients with 46,XY disorders of sex development.
    Choi JH, Kim GH, Seo EJ, Kim KS, Kim SH, Yoo HW.
    J Pediatr Endocrinol Metab; 2008 Jun; 21(6):545-53. PubMed ID: 18717241
    [Abstract] [Full Text] [Related]

  • 22. 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; 27(11):890-4. PubMed ID: 21214500
    [Abstract] [Full Text] [Related]

  • 23. Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.
    Audi L, Fernández-Cancio M, Carrascosa A, Andaluz P, Torán N, Piró C, Vilaró E, Vicens-Calvet E, Gussinyé M, Albisu MA, Yeste D, Clemente M, Hernández de la Calle I, Del Campo M, Vendrell T, Blanco A, Martínez-Mora J, Granada ML, Salinas I, Forn J, Calaf J, Angerri O, Martínez-Sopena MJ, Del Valle J, García E, Gracia-Bouthelier R, Lapunzina P, Mayayo E, Labarta JI, Lledó G, Sánchez Del Pozo J, Arroyo J, Pérez-Aytes A, Beneyto M, Segura A, Borrás V, Gabau E, Caimarí M, Rodríguez A, Martínez-Aedo MJ, Carrera M, Castaño L, Andrade M, Bermúdez de la Vega JA, Grupo de Apoyo al Síndrome de Insensibilidad a los Andrógenos (GrApSIA).
    J Clin Endocrinol Metab; 2010 Apr; 95(4):1876-88. PubMed ID: 20150575
    [Abstract] [Full Text] [Related]

  • 24. Concomitant mutations in the P450 oxidoreductase and androgen receptor genes presenting with 46,XY disordered sex development and androgenization at adrenarche.
    Idkowiak J, Malunowicz EM, Dhir V, Reisch N, Szarras-Czapnik M, Holmes DM, Shackleton CH, Davies JD, Hughes IA, Krone N, Arlt W.
    J Clin Endocrinol Metab; 2010 Jul; 95(7):3418-27. PubMed ID: 20410220
    [Abstract] [Full Text] [Related]

  • 25. 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; 196():105493. PubMed ID: 31614207
    [Abstract] [Full Text] [Related]

  • 26. Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD.
    Akcan N, Uyguner O, Baş F, Altunoğlu U, Toksoy G, Karaman B, Avcı Ş, Yavaş Abalı Z, Poyrazoğlu Ş, Aghayev A, Karaman V, Bundak R, Başaran S, Darendeliler F.
    J Clin Res Pediatr Endocrinol; 2022 Jun 07; 14(2):153-171. PubMed ID: 35135181
    [Abstract] [Full Text] [Related]

  • 27. [Severe 46,XY virilization deficit due to 17beta-hydroxysteroid dehydrogenase deficiency].
    Twesten W, Johannisson R, Holterhus PM, Hiort O.
    Klin Padiatr; 2002 Jun 07; 214(5):314-5. PubMed ID: 12235550
    [Abstract] [Full Text] [Related]

  • 28. Correlation of androgen receptor and SRD5A2 gene mutations with pediatric hypospadias in 46, XY DSD children.
    Fu XH, Zhang WQ, Qu XS.
    Genet Mol Res; 2016 Mar 31; 15(1):15018232. PubMed ID: 27051040
    [Abstract] [Full Text] [Related]

  • 29. 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 31; 227():106235. PubMed ID: 36563763
    [Abstract] [Full Text] [Related]

  • 30. 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 31; 165(Pt A):86-94. PubMed ID: 26956191
    [Abstract] [Full Text] [Related]

  • 31. 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 Jan 31; 25(5-6):561-3. PubMed ID: 22876557
    [Abstract] [Full Text] [Related]

  • 32. A novel mutation (c.T3816 > C) in the androgen receptor gene in a 46,XY female patient with androgen insensitivity syndrome.
    Helszer Z, Dmochowska A, Borkowska E, Moczulska H, Słowikowska-Hilczer J, Pietrusiński M, Jędrzejczyk S, Kałużewski B.
    Endokrynol Pol; 2013 Jan 31; 64(5):398-402. PubMed ID: 24186597
    [Abstract] [Full Text] [Related]

  • 33. 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]

  • 34. 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 Jun 07; 10(2):66-73. PubMed ID: 27073926
    [Abstract] [Full Text] [Related]

  • 35. Altered transcription profiles of key-enzymes of androgen biosynthesis in genital skin fibroblasts from patients with 46,XY disorders of sex development (DSD).
    Hoppe U, Wünsch L, Holterhus PM, Jocham D, Richter-Unruh A, Hiort O.
    Sex Dev; 2007 Jun 07; 1(4):230-7. PubMed ID: 18391534
    [Abstract] [Full Text] [Related]

  • 36. 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 07; 84(12):4713-21. PubMed ID: 10599740
    [Abstract] [Full Text] [Related]

  • 37. Etiological diagnosis of undervirilized male/XY disorder of sex development.
    Atta I, Ibrahim M, Parkash A, Lone SW, Khan YN, Raza J.
    J Coll Physicians Surg Pak; 2014 Oct 07; 24(10):714-8. PubMed ID: 25327912
    [Abstract] [Full Text] [Related]

  • 38. 46,XY karyotype in a female phenotype fetus: a challenging diagnosis.
    Russo G, di Lascio A, Ferrario M, Meroni S, Hiort O, Chiumello G.
    J Pediatr Adolesc Gynecol; 2012 Jun 07; 25(3):e77-9. PubMed ID: 22578489
    [Abstract] [Full Text] [Related]

  • 39. A study of gender outcome of Egyptian patients with 46,XY disorder of sex development.
    Ismail SI, Mazen IA.
    Sex Dev; 2010 Sep 07; 4(4-5):285-91. PubMed ID: 20664246
    [Abstract] [Full Text] [Related]

  • 40. 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]

    Page: [Previous] [Next] [New Search]
    of 15.