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Journal Abstract Search

157 related items for PubMed ID: 28739554

  • 1. 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]

  • 2. 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 01; 7(3):249-52. PubMed ID: 26831562
    [Abstract] [Full Text] [Related]

  • 3. 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 01; 10(10):2586-9. PubMed ID: 22594312
    [Abstract] [Full Text] [Related]

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

  • 5. 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 01; 28(5-6):623-8. PubMed ID: 25536660
    [Abstract] [Full Text] [Related]

  • 6. 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 01; 165(Pt A):79-85. PubMed ID: 27163392
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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 01; 28(7-8):957-9. PubMed ID: 25894637
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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 01; 67(1):20-8. PubMed ID: 17466011
    [Abstract] [Full Text] [Related]

  • 11. 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 Jul 01; 87(5):354-358. PubMed ID: 27951541
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. 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 15; 24(10):714-8. PubMed ID: 25327912
    [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. 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 02; 14(9):1165-1174. PubMed ID: 28859874
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. 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]

  • 18. 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]

  • 19. 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 07; 165(Pt A):86-94. PubMed ID: 26956191
    [Abstract] [Full Text] [Related]

  • 20. 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]

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