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151 related items for PubMed ID: 23295294

  • 1. 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; 56(8):533-9. PubMed ID: 23295294
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 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. 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]

  • 5. 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 01; 139(3):330-3. PubMed ID: 9758445
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. 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]

  • 8. 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]

  • 9. 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]

  • 10. 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]

  • 11. 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]

  • 12. 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 07; 28(7-8):961-5. PubMed ID: 25879310
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. 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 Jul 26; 25(5-6):561-3. PubMed ID: 22876557
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. 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 26; 174():141-145. PubMed ID: 28847746
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. 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 May 26; 7(6):277-81. PubMed ID: 23796702
    [Abstract] [Full Text] [Related]

  • 19. Clinical, endocrine, and molecular genetic findings in patients with 17beta-hydroxysteroid dehydrogenase deficiency.
    Twesten W, Holterhus P, Sippell WG, Morlot M, Schumacher H, Schenk B, Hiort O.
    Horm Res; 2000 May 26; 53(1):26-31. PubMed ID: 10965217
    [Abstract] [Full Text] [Related]

  • 20. 17βHSD-3 enzyme deficiency due to novel mutations in the HSD17B3 gene diagnosed in a neonate.
    Sagsak E, Aycan Z, Savas-Erdeve S, Keskin M, Cetinkaya S, Karaer K.
    J Pediatr Endocrinol Metab; 2015 Jul 26; 28(7-8):957-9. PubMed ID: 25894637
    [Abstract] [Full Text] [Related]

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