316 related articles for article (PubMed ID: 25740850)
1. 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; 172(6):745-51. PubMed ID: 25740850
[TBL] [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
[TBL] [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; 10(10):2586-9. PubMed ID: 22594312
[TBL] [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; 438():154-6. PubMed ID: 25064799
[TBL] [Abstract][Full Text] [Related]
5. 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; 5(6):273-6. PubMed ID: 22212252
[TBL] [Abstract][Full Text] [Related]
6. Recognition of 5α-reductase-2 deficiency in an adult female 46XY DSD clinic.
Berra M; Williams EL; Muroni B; Creighton SM; Honour JW; Rumsby G; Conway GS
Eur J Endocrinol; 2011 Jun; 164(6):1019-25. PubMed ID: 21402750
[TBL] [Abstract][Full Text] [Related]
7. 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; 87(5):354-358. PubMed ID: 27951541
[TBL] [Abstract][Full Text] [Related]
8. 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
[TBL] [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; 14(9):1165-1174. PubMed ID: 28859874
[TBL] [Abstract][Full Text] [Related]
10. Novel mutations of the SRD5A2 and AR genes in Thai patients with 46, XY disorders of sex development.
Ittiwut C; Pratuangdejkul J; Supornsilchai V; Muensri S; Hiranras Y; Sahakitrungruang T; Watcharasindhu S; Suphapeetiporn K; Shotelersuk V
J Pediatr Endocrinol Metab; 2017 Jan; 30(1):19-26. PubMed ID: 27849622
[TBL] [Abstract][Full Text] [Related]
11. 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; 7(3):249-52. PubMed ID: 26831562
[TBL] [Abstract][Full Text] [Related]
12. AR and SRD5A2 gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity.
Akcay T; Fernandez-Cancio M; Turan S; Güran T; Audi L; Bereket A
Andrology; 2014 Jul; 2(4):572-8. PubMed ID: 24737579
[TBL] [Abstract][Full Text] [Related]
13. 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; 28(5-6):623-8. PubMed ID: 25536660
[TBL] [Abstract][Full Text] [Related]
14. 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; 10(1):74-78. PubMed ID: 28739554
[TBL] [Abstract][Full Text] [Related]
15. 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; 155(Pt A):147-54. PubMed ID: 26545797
[TBL] [Abstract][Full Text] [Related]
16. 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; 12(12):. PubMed ID: 34946839
[TBL] [Abstract][Full Text] [Related]
17. Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency: A Case Report and Review of 70 Different
Gonçalves CI; Carriço J; Bastos M; Lemos MC
Int J Mol Sci; 2022 Sep; 23(17):. PubMed ID: 36077423
[TBL] [Abstract][Full Text] [Related]
18. 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
[TBL] [Abstract][Full Text] [Related]
19. 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
[TBL] [Abstract][Full Text] [Related]
20. 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
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
