133 related articles for article (PubMed ID: 35065919)
21. 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]
22. A Novel Compound Heterozygous Mutation of HSD17B3 Gene Identified in a Patient With 46,XY Difference of Sexual Development.
Cocchetti C; Baldinotti F; Romani A; Ristori J; Mazzoli F; Vignozzi L; Maggi M; Fisher AD
Sex Med; 2022 Aug; 10(4):100522. PubMed ID: 35588601
[TBL] [Abstract][Full Text] [Related]
23. Lessons from 17β-HSD3 deficiency: Clinical spectrum and complex molecular basis in Chinese patients.
Zhu H; Yao H; Liu X; Xu Y; Liu Y; Luo Q; Chen Y; Shi Y; Chen F; Zhao S; Song H; Han B; Qiao J
J Steroid Biochem Mol Biol; 2023 Jan; 225():106191. PubMed ID: 36154887
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. 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]
26. 17β hydroxysteroid dehydrogenase 3 deficiency in 46,XY disorders of sex development: Our experience and a gender role-focused systematic review.
Krishnappa B; Arya S; Lila AR; Sarathi V; Memon SS; Barnabas R; Kumbhar BV; Bhandare VV; Patil V; Shah NS; Kunwar A; Bandgar T
Clin Endocrinol (Oxf); 2022 Jul; 97(1):43-51. PubMed ID: 35170787
[TBL] [Abstract][Full Text] [Related]
27. Steroidogenesis of the testis -- new genes and pathways.
Flück CE; Pandey AV
Ann Endocrinol (Paris); 2014 May; 75(2):40-7. PubMed ID: 24793988
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. Four novel mutations identification in 17 beta-hydroxysteroid dehydrogenase-3 deficiency and our clinical experience: possible benefits of early treatment.
Wang Y; Xu Y; Zhang H; Yin D; Pan Y; He X; Li S; Cheng Z; Zhu G; Zhao T; Huang H; Zhu M
Front Endocrinol (Lausanne); 2023; 14():1267967. PubMed ID: 38425490
[TBL] [Abstract][Full Text] [Related]
30. 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; 139(3):330-3. PubMed ID: 9758445
[TBL] [Abstract][Full Text] [Related]
31. [Severe 46,XY virilization deficit due to 17beta-hydroxysteroid dehydrogenase deficiency].
Twesten W; Johannisson R; Holterhus PM; Hiort O
Klin Padiatr; 2002; 214(5):314-5. PubMed ID: 12235550
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. Early and late diagnoses of 17β-Hydroxysteroid dehydrogenase type-3 deficiency in two unrelated patients.
Manyas H; Eroğlu Filibeli B; Ayrancı İ; Güvenç MS; Dündar BN; Çatlı G
Andrologia; 2021 Jul; 53(6):e14017. PubMed ID: 33586216
[TBL] [Abstract][Full Text] [Related]
34. Analysis of testosterone pathway genes in dogs (78,XY; SRY-positive) with ambiguous external genitalia revealed a homozygous animal for 2-bp deletion causing premature stop codon in HSD17B3.
Krzeminska P; Nizanski W; Nowacka-Woszuk J; Switonski M
Anim Genet; 2019 Dec; 50(6):705-711. PubMed ID: 31476086
[TBL] [Abstract][Full Text] [Related]
35. 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; 28(7-8):961-5. PubMed ID: 25879310
[TBL] [Abstract][Full Text] [Related]
36. The clinical and molecular heterogeneity of 17βHSD-3 enzyme deficiency.
George MM; New MI; Ten S; Sultan C; Bhangoo A
Horm Res Paediatr; 2010; 74(4):229-240. PubMed ID: 20689261
[TBL] [Abstract][Full Text] [Related]
37. The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency.
Fabbri HC; de Andrade JG; Soardi FC; de Calais FL; Petroli RJ; Maciel-Guerra AT; Guerra-Júnior G; de Mello MP
BMC Med Genet; 2014 Jan; 15():7. PubMed ID: 24405868
[TBL] [Abstract][Full Text] [Related]
38. 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; 35(7):953-961. PubMed ID: 35411763
[TBL] [Abstract][Full Text] [Related]
39. Oligogenic Causes of Human Differences of Sex Development: Facing the Challenge of Genetic Complexity.
Kouri C; Sommer G; Flück CE
Horm Res Paediatr; 2023; 96(2):169-179. PubMed ID: 34537773
[TBL] [Abstract][Full Text] [Related]
40. 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; 10(2):66-73. PubMed ID: 27073926
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]