About: Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in theNR5A1 gene: a case study

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Attributes	Values
rdf:type	Item
description	article (en) wetenschappelijk artikel (nl) наукова стаття, опублікована в червні 2010 (uk) im Jahr 2010 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q60334113-8DF725AF-E44A-4CD6-8426-DB4164D110D8
publication date	2010-01-01 00:00:00Z (xsd:dateTime)
exact match	wds:Q60334113-0F73BF87-C49B-4071-A34E-C0B2504D5D47
exact match	https://scigraph.springernature.com/pub.10.1007/bf03195733
cites work	wds:Q60334113-201667D7-E7B6-479A-AEAB-56476DAD9C12 wds:Q60334113-2D557ABF-AAD6-4070-BBC8-627909295579 wds:Q60334113-6C753085-8E83-4F71-80BB-77DC7F7C049B wds:Q60334113-806A0A3C-5D7B-418D-89D2-17845327AD50 wds:Q60334113-A8A2288C-E7B6-4F9B-8E72-2B8F6FBE1817 wds:Q60334113-CE4037DD-1DFF-44E2-AB91-4B766D3563F1
cites work	Mutations in NR5A1 associated with ovarian insufficiency The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency A novel heterozygous mutation of steroidogenic factor-1 (SF-1/Ad4BP) gene (NR5A1) in a 46, XY disorders of sex development (DSD) patient without adrenal failure Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner. Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development Molecular aspects of steroidogenic factor 1 (SF-1).
author name string	wds:Q60334113-1C0E1562-023B-497C-B212-9D9989FABF13 wds:Q60334113-1D66F0C6-22A9-4CAE-A1E5-2E65E3F1B486 wds:Q60334113-985C6CE4-26C0-41EF-8699-7A79B5A8A445 wds:Q60334113-EBB43B01-774C-41EC-97CF-DD5DAB940182
author name string	A T Maciel-Guerra F C Soardi M Palandi de Mello F Borchers Coeli
rdfs:label	Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in theNR5A1 gene: a case study (en) Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in theNR5A1 gene: a case study (nl)
skos:prefLabel	Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in theNR5A1 gene: a case study (en) Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in theNR5A1 gene: a case study (nl)
name	Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in theNR5A1 gene: a case study (en) Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in theNR5A1 gene: a case study (nl)
author	wds:Q60334113-BA596A08-CC35-4B39-A85D-033FD9638220
author	Gil Guerra-Junior
title	wds:Q60334113-A05BA06C-5A7D-4468-A13D-718FF70FECDE
title	Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 gene: a case study (en)
page(s)	wds:Q60334113-E855056C-6D44-48DC-B91B-A0F131E90701
page(s)	223-224
instance of	wds:Q60334113-DD47E6D0-8EFE-4A91-B8EF-916A566532A1
instance of	scholarly article
main subject	wds:Q60334113-51EDFBFF-F60E-4C39-8B2A-3543BCBB147E wds:Q60334113-6E3EE3F4-C1A4-4D05-9531-03B752487665
main subject	XY gonadal dysgenesis homozygosity
PubMed ID	wds:Q60334113-E30B7FB9-20B9-482E-8CE2-BCF523548D8A
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/20453312
PubMed ID	20453312
published in	wds:Q60334113-41B67557-0266-4C9A-8A96-EA7D03914D4C
published in	Journal of Applied Genetics
issue	wds:Q60334113-865782E9-3751-44E1-820D-0B987F33C529
volume	wds:Q60334113-8D75C5DD-A5AF-4157-9642-8EB7E2648E75
issue	2
volume	51
DOI	wds:Q60334113-4243374D-5197-4ED7-85A3-4410949CB6F0
DOI	http://dx.doi.org/10.1007/BF03195733
DOI	10.1007/BF03195733
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q60334113
is cites work of	New NR5A1 mutations and phenotypic variations of gonadal dysgenesis Testicular differentiation factor SF-1 is required for human spleen development Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals Mutation update for the NR5A1 gene involved in DSD and infertility Acidic residue Glu199 increases SUMOylation level of nuclear hormone receptor NR5A1. 408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing.
is cites work of	wds:Q33620962-C0C08BB7-90F6-4849-967A-98A7E1B60497 wds:Q42144598-6616EF3A-F26A-4152-933C-400525938E05 wds:Q37726671-66BD299A-31F4-4F19-8B3A-4CB8C5BEEDEF wds:Q90075309-AE0F8541-6AD1-4A1E-9F8B-95FA6ACD430C wds:Q37492520-3F2204E4-0E4E-4064-ABA3-664C1338F15E wds:Q37696640-1355174E-806D-4271-8A98-8583B765048B

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