17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations
about
Disorders of sexual development in a cultural context.Comment on "complete androgen insensitivity syndrome: optimizing diagnosis and management".The influence of bovine milk high or low in isoflavones on hepatic gene expression in mice.Application of the new classification on patients with a disorder of sex development in indonesia.Diagnosis of diseases of steroid hormone production, metabolism and action.Correlation between genotype, phenotype and sex of rearing in 111 patients with partial androgen insensitivity syndrome.Functional analyses of endometriosis-related polymorphisms in the estrogen synthesis and metabolism-related genes.Phenotypic variability in 17beta-hydroxysteroid dehydrogenase-3 deficiency and diagnostic pitfalls.A Novel Mutation Causing 17-β-Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Omani Child: First Case Report and Review of Literature.Practical management of the intersex infant.Severe Undervirilisation in a 46,XY Case Due to a Novel Mutation in HSD17B3 Gene17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite.A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46,XY patients with disorders of sex development.Clinical, hormonal and radiological profile of 46XY disorders of sexual development.46,XY disorder of sex development due to 17-beta hydroxysteroid dehydrogenase type 3 deficiency: a plea for timely genetic testing.Constitutional polymorphisms of prostate cancer: prognostic and diagnostic implications.46,XY DSD with Female or Ambiguous External Genitalia at Birth due to Androgen Insensitivity Syndrome, 5alpha-Reductase-2 Deficiency, or 17beta-Hydroxysteroid Dehydrogenase Deficiency: A Review of Quality of Life Outcomes.Amelogenin-based sex identification as a strategy to control the identity of DNA samples in genetic association studies.Single-molecule enzymology of steroid transforming enzymes: Transient kinetic studies and what they tell us.Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual developmentA study of splicing mutations in disorders of sex development.46,XY disorder of sex development due to 17-beta hydroxysteroid dehydrogenase type 3 deficiency in an infant of Greek origin.Long-term biochemical evaluation of the androgen receptor pathway in males with disorders of sex development.Testosterone synthesis in patients with 17β-hydroxysteroid dehydrogenase 3 deficiency.Epidemiology and initial management of ambiguous genitalia at birth in Germany.
P2860
Q30398685-D24EC201-E516-465C-94AD-D8686B05B0DCQ33681858-E781EE69-CB64-4083-B891-DD731492FA8AQ34002926-3076E3A7-9B18-4B22-B197-536B45F36351Q34130272-8E47093E-15BE-46BD-AEC5-8159E3A15D62Q34161154-79EAC1BF-E8E7-4FAA-A82A-C2D1F6CB7B8DQ34427210-5241B344-9E7E-452E-851D-1AB602CC6A6FQ34471798-9754E1B6-9D82-41B5-A0C7-516641631A27Q34623696-293A5E58-FD16-4305-8712-FED22E49B8C1Q35546701-2D7E5535-EF57-406B-975B-0A332C066DB8Q36023254-B2EFEE13-E478-438C-BB01-F718281B4C6BQ36367807-B8B1ECEB-23BD-4AFF-BCE5-5452BA492C57Q36484150-D3D82783-137E-43FE-BEAF-7E9D25B4698EQ36732947-BE862BB5-F4E5-4507-9684-933DB3180A25Q36867399-AEB12E67-AE07-4556-91A1-865CAC2D3006Q37006518-5987475A-E65B-4A48-B707-F01384EE354EQ37016023-55A0A241-9877-4FC0-A0E6-F984DE69F358Q37420307-CB70A10D-F21E-45E8-8908-9608933E70EEQ37710519-3776F793-D22A-4D80-A6BD-7ED33AAC690DQ38643848-2D9C862C-0DDE-4DAC-86B4-22B472C16592Q41702033-1322CC8C-6F37-404A-9BA6-1DFCBCCA5889Q47162180-6748FBB2-07A0-47CB-BBCA-633640EF4084Q47688220-B8C8ED29-CD6E-49D6-AF1F-F0947750CA68Q51527942-B520C43A-78B5-4087-9629-FC1AC0AB52E9Q51760498-74F43478-B53E-43CC-9387-27342D4B324EQ51793180-84AC7262-230A-4FA4-9B0C-85AB99B0CD9B
P2860
17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations
description
1999 nî lūn-bûn
@nan
1999 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
17Beta-hydroxysteroid dehydrog ...... ancient and de novo mutations
@ast
17Beta-hydroxysteroid dehydrog ...... ancient and de novo mutations
@en
17Beta-hydroxysteroid dehydrog ...... ancient and de novo mutations
@nl
type
label
17Beta-hydroxysteroid dehydrog ...... ancient and de novo mutations
@ast
17Beta-hydroxysteroid dehydrog ...... ancient and de novo mutations
@en
17Beta-hydroxysteroid dehydrog ...... ancient and de novo mutations
@nl
prefLabel
17Beta-hydroxysteroid dehydrog ...... ancient and de novo mutations
@ast
17Beta-hydroxysteroid dehydrog ...... ancient and de novo mutations
@en
17Beta-hydroxysteroid dehydrog ...... ancient and de novo mutations
@nl
P2093
P3181
P356
P1476
17Beta-hydroxysteroid dehydrog ...... ancient and de novo mutations
@en
P2093
A L Boehmer
A O Brinkmann
B B Mendonça
C Rodrigues
D J Halley
F H de Jong
H A Delemarre-van de Waal
P304
P3181
P356
10.1210/JC.84.12.4713
P407
P577
1999-12-01T00:00:00Z