Matches in SemOpenAlex for { <https://semopenalex.org/work/W3167267524> ?p ?o ?g. }
Showing items 1 to 90 of
90
with 100 items per page.
- W3167267524 endingPage "69" @default.
- W3167267524 startingPage "62" @default.
- W3167267524 abstract "Steroidogenic factor 1 (SF1, NR5A1) is a nuclear receptor that regulates multiple genes involved in adrenal and gonadal development, steroidogenesis, and the reproductive axis. Human mutations in SF1 were initially found in patients with severe gonadal dysgenesis and primary adrenal failure. However, more recent case reports have suggested that heterozygous mutations in SF1 may also be found in patients with 46,XY partial gonadal dysgenesis and underandrogenization but normal adrenal function. We have analyzed the gene encoding SF1 (NR5A1) in a cohort of 310 Russian patients with 46,XY disorders of sex development (DSD). Heterozygous SF1 variants were found in 36 out of 310 (11.6%) of cases, among them 15 were not previously described. We have not found any phenotype-genotype correlations and any clinical and laboratory markers that would allow to suspect this type of before conducting molecular genetic analysis." @default.
- W3167267524 created "2021-06-22" @default.
- W3167267524 creator A5015530299 @default.
- W3167267524 creator A5041588792 @default.
- W3167267524 creator A5051231272 @default.
- W3167267524 creator A5055464819 @default.
- W3167267524 date "2020-09-16" @default.
- W3167267524 modified "2023-09-27" @default.
- W3167267524 title "Clinical and molecular characteristics of patients with 46,XY DSD due to NR5A1 gene mutations" @default.
- W3167267524 cites W1541395198 @default.
- W3167267524 cites W1989772312 @default.
- W3167267524 cites W1990307219 @default.
- W3167267524 cites W2034286354 @default.
- W3167267524 cites W2035916213 @default.
- W3167267524 cites W2051978340 @default.
- W3167267524 cites W2056362365 @default.
- W3167267524 cites W2100859941 @default.
- W3167267524 cites W2104065423 @default.
- W3167267524 cites W2106252292 @default.
- W3167267524 cites W2114210909 @default.
- W3167267524 cites W2125493768 @default.
- W3167267524 cites W2128369394 @default.
- W3167267524 cites W2135865555 @default.
- W3167267524 cites W2156317041 @default.
- W3167267524 cites W2296216892 @default.
- W3167267524 cites W2308007821 @default.
- W3167267524 cites W2770387571 @default.
- W3167267524 cites W2972909486 @default.
- W3167267524 cites W3000106447 @default.
- W3167267524 doi "https://doi.org/10.14341/probl12445" @default.
- W3167267524 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33351340" @default.
- W3167267524 hasPublicationYear "2020" @default.
- W3167267524 type Work @default.
- W3167267524 sameAs 3167267524 @default.
- W3167267524 citedByCount "1" @default.
- W3167267524 countsByYear W31672675242022 @default.
- W3167267524 crossrefType "journal-article" @default.
- W3167267524 hasAuthorship W3167267524A5015530299 @default.
- W3167267524 hasAuthorship W3167267524A5041588792 @default.
- W3167267524 hasAuthorship W3167267524A5051231272 @default.
- W3167267524 hasAuthorship W3167267524A5055464819 @default.
- W3167267524 hasBestOaLocation W31672675241 @default.
- W3167267524 hasConcept C104317684 @default.
- W3167267524 hasConcept C126322002 @default.
- W3167267524 hasConcept C127716648 @default.
- W3167267524 hasConcept C134018914 @default.
- W3167267524 hasConcept C135763542 @default.
- W3167267524 hasConcept C2777703421 @default.
- W3167267524 hasConcept C2778129406 @default.
- W3167267524 hasConcept C2778324535 @default.
- W3167267524 hasConcept C54355233 @default.
- W3167267524 hasConcept C63932345 @default.
- W3167267524 hasConcept C71924100 @default.
- W3167267524 hasConcept C86339819 @default.
- W3167267524 hasConcept C86803240 @default.
- W3167267524 hasConceptScore W3167267524C104317684 @default.
- W3167267524 hasConceptScore W3167267524C126322002 @default.
- W3167267524 hasConceptScore W3167267524C127716648 @default.
- W3167267524 hasConceptScore W3167267524C134018914 @default.
- W3167267524 hasConceptScore W3167267524C135763542 @default.
- W3167267524 hasConceptScore W3167267524C2777703421 @default.
- W3167267524 hasConceptScore W3167267524C2778129406 @default.
- W3167267524 hasConceptScore W3167267524C2778324535 @default.
- W3167267524 hasConceptScore W3167267524C54355233 @default.
- W3167267524 hasConceptScore W3167267524C63932345 @default.
- W3167267524 hasConceptScore W3167267524C71924100 @default.
- W3167267524 hasConceptScore W3167267524C86339819 @default.
- W3167267524 hasConceptScore W3167267524C86803240 @default.
- W3167267524 hasIssue "3" @default.
- W3167267524 hasLocation W31672675241 @default.
- W3167267524 hasLocation W31672675242 @default.
- W3167267524 hasOpenAccess W3167267524 @default.
- W3167267524 hasPrimaryLocation W31672675241 @default.
- W3167267524 hasRelatedWork W1987303855 @default.
- W3167267524 hasRelatedWork W1989061770 @default.
- W3167267524 hasRelatedWork W2060004006 @default.
- W3167267524 hasRelatedWork W2074435588 @default.
- W3167267524 hasRelatedWork W2078224059 @default.
- W3167267524 hasRelatedWork W2144097982 @default.
- W3167267524 hasRelatedWork W2146108647 @default.
- W3167267524 hasRelatedWork W2158312495 @default.
- W3167267524 hasRelatedWork W3167267524 @default.
- W3167267524 hasRelatedWork W4241864131 @default.
- W3167267524 hasVolume "66" @default.
- W3167267524 isParatext "false" @default.
- W3167267524 isRetracted "false" @default.
- W3167267524 magId "3167267524" @default.
- W3167267524 workType "article" @default.