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Journal Abstract Search

122 related items for PubMed ID: 23375913

  • 1. Novel mutation among two sisters with 17β hydroxysteroid dehydrogenase type 3 deficiency.
    Massanyi EZ, Gearhart JP, Kolp LA, Migeon CJ.
    Urology; 2013 May; 81(5):1069-71. PubMed ID: 23375913
    [Abstract] [Full Text] [Related]

  • 2. 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; 67(1):20-8. PubMed ID: 17466011
    [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; 165(Pt A):79-85. PubMed ID: 27163392
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 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 01; 172(6):745-51. PubMed ID: 25740850
    [Abstract] [Full Text] [Related]

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

  • 7. 17beta-hydroxysteroid dehydrogenase-3 deficiency: a rare endocrine cause of male-to-female sex reversal.
    Bertelloni S, Maggio MC, Federico G, Baroncelli G, Hiort O.
    Gynecol Endocrinol; 2006 Sep 01; 22(9):488-94. PubMed ID: 17071532
    [Abstract] [Full Text] [Related]

  • 8. Prepubertal and pubertal gonadal morphology, expression of cell lineage markers and hormonal evaluation in two 46,XY siblings with 17β-hydroxysteroid dehydrogenase 3 deficiency.
    von Spreckelsen B, Aksglaede L, Johannsen TH, Nielsen JE, Main KM, Jørgensen A, Jensen RB.
    J Pediatr Endocrinol Metab; 2022 Jul 26; 35(7):953-961. PubMed ID: 35411763
    [Abstract] [Full Text] [Related]

  • 9. 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 26; 165(Pt A):86-94. PubMed ID: 26956191
    [Abstract] [Full Text] [Related]

  • 10. 17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite.
    Mains LM, Vakili B, Lacassie Y, Andersson S, Lindqvist A, Rock JA.
    Fertil Steril; 2008 Jan 26; 89(1):228.e13-7. PubMed ID: 17509588
    [Abstract] [Full Text] [Related]

  • 11. 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 26; 43(12):1711-1716. PubMed ID: 32297288
    [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 Dec 26; 5(6):273-6. PubMed ID: 22212252
    [Abstract] [Full Text] [Related]

  • 13. 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 26; 84(12):4713-21. PubMed ID: 10599740
    [Abstract] [Full Text] [Related]

  • 14. 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 26; 28(5-6):623-8. PubMed ID: 25536660
    [Abstract] [Full Text] [Related]

  • 15. Pubertal Development in
17Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency
.
    Hiort O, Marshall L, Birnbaum W, Wünsch L, Holterhus PM, Döhnert U, Werner R.
    Horm Res Paediatr; 2017 May 26; 87(5):354-358. PubMed ID: 27951541
    [Abstract] [Full Text] [Related]

  • 16. Duplication of exons 3-10 of the HSD17B3 gene: a novel type of genetic defect underlying 17β-HSD-3 deficiency.
    Neocleous V, Sismani C, Shammas C, Efstathiou E, Alexandrou A, Ioannides M, Argyrou M, Patsalis PC, Phylactou LA, Skordis N.
    Gene; 2012 May 15; 499(2):250-5. PubMed ID: 22445608
    [Abstract] [Full Text] [Related]

  • 17. 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 15; 56(8):533-9. PubMed ID: 23295294
    [Abstract] [Full Text] [Related]

  • 18. A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism.
    Bilbao JR, Loridan L, Audí L, Gonzalo E, Castaño L.
    Eur J Endocrinol; 1998 Sep 15; 139(3):330-3. PubMed ID: 9758445
    [Abstract] [Full Text] [Related]

  • 19. 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 15; 155(Pt A):147-54. PubMed ID: 26545797
    [Abstract] [Full Text] [Related]

  • 20. 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 15; 14(9):1165-1174. PubMed ID: 28859874
    [Abstract] [Full Text] [Related]

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