FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2096273247> ?p ?o ?g. }

• W2096273247 endingPage "346" @default.
• W2096273247 startingPage "341" @default.
• W2096273247 abstract "XX maleness is a rare syndrome with a frequency of 1 in 20 000–25 000 males. XX males exist in different clinical categories with ambiguous genitalia or partially to fully mature male genitalia, in combination with complete or incomplete masculinization. In this study, we report a case of SRY-negative XX male with complete masculinization but infertility. The patient had fully mature male genitalia with descended but small testes and no signs of undervirilization. PCR analysis for SRY, ZFY, Amelogenin, AZFa, AZFb, AZFc genes, a pair of primers from heterochromatic region and six Y-STRs showed the absence of any Y-chromosome-derived material. Absence of SRY gene was confirmed by three independent PCRs for each of two sets of primers covering an increasing length of the gene. Sequence analysis of the coding regions of SOX9 and DAX1 genes did not reveal any mutation. Real-time PCR assay revealed normal copy number for SOX9 gene. Microsatellite analysis showed no evidence of 17q (SOX9 gene) or 22q duplication. Genotyping with X-STRs ruled out the possibility of any deletion on X chromosome. Development of the male phenotype in the absence of SRY probably resulted from the loss of function mutation in some unknown sex-determining gene, which normally inhibits the male pathway, or from a gain of function mutation in a gene downstream to SRY in male pathway." @default.
• W2096273247 created "2016-06-24" @default.
• W2096273247 creator A5003280901 @default.
• W2096273247 creator A5033014176 @default.
• W2096273247 creator A5033846510 @default.
• W2096273247 creator A5034872746 @default.
• W2096273247 creator A5067158861 @default.
• W2096273247 creator A5080208431 @default.
• W2096273247 date "2006-04-13" @default.
• W2096273247 modified "2023-10-18" @default.
• W2096273247 title "SRY-negative 46,XX male with normal genitals, complete masculinization and infertility" @default.
• W2096273247 cites W15453418 @default.
• W2096273247 cites W1577124699 @default.
• W2096273247 cites W1586722421 @default.
• W2096273247 cites W1600280267 @default.
• W2096273247 cites W1919986685 @default.
• W2096273247 cites W194246067 @default.
• W2096273247 cites W1973295687 @default.
• W2096273247 cites W1985120716 @default.
• W2096273247 cites W1993293898 @default.
• W2096273247 cites W1998184915 @default.
• W2096273247 cites W2013246689 @default.
• W2096273247 cites W2017288138 @default.
• W2096273247 cites W2021129979 @default.
• W2096273247 cites W2021719160 @default.
• W2096273247 cites W2029800965 @default.
• W2096273247 cites W2030857307 @default.
• W2096273247 cites W2031915712 @default.
• W2096273247 cites W2039610391 @default.
• W2096273247 cites W2042523265 @default.
• W2096273247 cites W2044802929 @default.
• W2096273247 cites W2050031444 @default.
• W2096273247 cites W2079179085 @default.
• W2096273247 cites W2085760113 @default.
• W2096273247 cites W2088746788 @default.
• W2096273247 cites W2092762918 @default.
• W2096273247 cites W2095430709 @default.
• W2096273247 cites W2115771021 @default.
• W2096273247 cites W2148069086 @default.
• W2096273247 cites W2150853410 @default.
• W2096273247 cites W2157259126 @default.
• W2096273247 cites W2159231404 @default.
• W2096273247 cites W2160084983 @default.
• W2096273247 cites W2291374371 @default.
• W2096273247 cites W2395893175 @default.
• W2096273247 doi "https://doi.org/10.1093/molehr/gal030" @default.
• W2096273247 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/16556678" @default.
• W2096273247 hasPublicationYear "2006" @default.
• W2096273247 type Work @default.
• W2096273247 sameAs 2096273247 @default.
• W2096273247 citedByCount "84" @default.
• W2096273247 countsByYear W20962732472012 @default.
• W2096273247 countsByYear W20962732472013 @default.
• W2096273247 countsByYear W20962732472014 @default.
• W2096273247 countsByYear W20962732472015 @default.
• W2096273247 countsByYear W20962732472016 @default.
• W2096273247 countsByYear W20962732472017 @default.
• W2096273247 countsByYear W20962732472018 @default.
• W2096273247 countsByYear W20962732472019 @default.
• W2096273247 countsByYear W20962732472020 @default.
• W2096273247 countsByYear W20962732472021 @default.
• W2096273247 countsByYear W20962732472022 @default.
• W2096273247 countsByYear W20962732472023 @default.
• W2096273247 crossrefType "journal-article" @default.
• W2096273247 hasAuthorship W2096273247A5003280901 @default.
• W2096273247 hasAuthorship W2096273247A5033014176 @default.
• W2096273247 hasAuthorship W2096273247A5033846510 @default.
• W2096273247 hasAuthorship W2096273247A5034872746 @default.
• W2096273247 hasAuthorship W2096273247A5067158861 @default.
• W2096273247 hasAuthorship W2096273247A5080208431 @default.
• W2096273247 hasBestOaLocation W20962732471 @default.
• W2096273247 hasConcept C104317684 @default.
• W2096273247 hasConcept C2777338322 @default.
• W2096273247 hasConcept C2777688143 @default.
• W2096273247 hasConcept C2779234561 @default.
• W2096273247 hasConcept C2780246931 @default.
• W2096273247 hasConcept C2780753755 @default.
• W2096273247 hasConcept C54355233 @default.
• W2096273247 hasConcept C73456138 @default.
• W2096273247 hasConcept C7602840 @default.
• W2096273247 hasConcept C86803240 @default.
• W2096273247 hasConceptScore W2096273247C104317684 @default.
• W2096273247 hasConceptScore W2096273247C2777338322 @default.
• W2096273247 hasConceptScore W2096273247C2777688143 @default.
• W2096273247 hasConceptScore W2096273247C2779234561 @default.
• W2096273247 hasConceptScore W2096273247C2780246931 @default.
• W2096273247 hasConceptScore W2096273247C2780753755 @default.
• W2096273247 hasConceptScore W2096273247C54355233 @default.
• W2096273247 hasConceptScore W2096273247C73456138 @default.
• W2096273247 hasConceptScore W2096273247C7602840 @default.
• W2096273247 hasConceptScore W2096273247C86803240 @default.
• W2096273247 hasIssue "5" @default.
• W2096273247 hasLocation W20962732471 @default.
• W2096273247 hasLocation W20962732472 @default.
• W2096273247 hasOpenAccess W2096273247 @default.
• W2096273247 hasPrimaryLocation W20962732471 @default.
• W2096273247 hasRelatedWork W1540619191 @default.
• W2096273247 hasRelatedWork W1899277667 @default.

• next