FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2007227212> ?p ?o ?g. }

• W2007227212 endingPage "300" @default.
• W2007227212 startingPage "291" @default.
• W2007227212 abstract "A mentally retarded female child with multiple congenital abnormalities had an abnormal X chromosome and a Y chromosome; the karyotype was interpreted as 46,dup(X)(p21 leads to pter)Y. Prenatal chromosome studies in a later pregnancy indicated the same chromosomal abnormality in the fetus. The fetus and proband had normal female genitalia and ovarian tissue. H--Y antigen was virtually absent in both sibs, a finding consistent with the view that testis-determining genes of the Y chromosome may be suppressed by regulatory elements of the X. The abnormal X chromosome was present in the mother, the maternal grandmother, and a female sib: all were phenotypically normal and showed the karyotype 46,Xdup(X)(p21 leads to pter) with non-random inactivation of the abnormal X. Anomalous segregation of the Xga allele suggests that the Xg locus was involved in the inactivation process or that crossing-over at meiosis occurred." @default.
• W2007227212 created "2016-06-24" @default.
• W2007227212 creator A5004284757 @default.
• W2007227212 creator A5007071136 @default.
• W2007227212 creator A5021340593 @default.
• W2007227212 creator A5053797999 @default.
• W2007227212 creator A5056545989 @default.
• W2007227212 creator A5080200072 @default.
• W2007227212 creator A5091379071 @default.
• W2007227212 date "1980-08-01" @default.
• W2007227212 modified "2023-09-27" @default.
• W2007227212 title "Female phenotype and multiple abnormalities in sibs with a Y chromosome and partial X chromosome duplication: H--Y antigen and Xg blood group findings." @default.
• W2007227212 cites W1573338448 @default.
• W2007227212 cites W1965371268 @default.
• W2007227212 cites W1968266747 @default.
• W2007227212 cites W1976275401 @default.
• W2007227212 cites W1977044049 @default.
• W2007227212 cites W1998593414 @default.
• W2007227212 cites W2003324082 @default.
• W2007227212 cites W2004885325 @default.
• W2007227212 cites W2030552050 @default.
• W2007227212 cites W2034824188 @default.
• W2007227212 cites W2040167197 @default.
• W2007227212 cites W2049162911 @default.
• W2007227212 cites W2051902571 @default.
• W2007227212 cites W2052703671 @default.
• W2007227212 cites W2063425671 @default.
• W2007227212 cites W2064785563 @default.
• W2007227212 cites W2068047752 @default.
• W2007227212 cites W2077940189 @default.
• W2007227212 cites W2085163496 @default.
• W2007227212 cites W2089172823 @default.
• W2007227212 cites W2092724850 @default.
• W2007227212 cites W2148531855 @default.
• W2007227212 cites W2161380508 @default.
• W2007227212 cites W2168239321 @default.
• W2007227212 cites W2399683856 @default.
• W2007227212 cites W24095987 @default.
• W2007227212 cites W2417372767 @default.
• W2007227212 cites W2418154945 @default.
• W2007227212 cites W2418560464 @default.
• W2007227212 cites W249654550 @default.
• W2007227212 cites W30812216 @default.
• W2007227212 cites W64649818 @default.
• W2007227212 cites W73840192 @default.
• W2007227212 doi "https://doi.org/10.1136/jmg.17.4.291" @default.
• W2007227212 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1048573" @default.
• W2007227212 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/7193738" @default.
• W2007227212 hasPublicationYear "1980" @default.
• W2007227212 type Work @default.
• W2007227212 sameAs 2007227212 @default.
• W2007227212 citedByCount "93" @default.
• W2007227212 countsByYear W20072272122012 @default.
• W2007227212 countsByYear W20072272122013 @default.
• W2007227212 countsByYear W20072272122015 @default.
• W2007227212 countsByYear W20072272122017 @default.
• W2007227212 countsByYear W20072272122018 @default.
• W2007227212 countsByYear W20072272122020 @default.
• W2007227212 countsByYear W20072272122021 @default.
• W2007227212 countsByYear W20072272122023 @default.
• W2007227212 crossrefType "journal-article" @default.
• W2007227212 hasAuthorship W2007227212A5004284757 @default.
• W2007227212 hasAuthorship W2007227212A5007071136 @default.
• W2007227212 hasAuthorship W2007227212A5021340593 @default.
• W2007227212 hasAuthorship W2007227212A5053797999 @default.
• W2007227212 hasAuthorship W2007227212A5056545989 @default.
• W2007227212 hasAuthorship W2007227212A5080200072 @default.
• W2007227212 hasAuthorship W2007227212A5091379071 @default.
• W2007227212 hasBestOaLocation W20072272121 @default.
• W2007227212 hasConcept C104317684 @default.
• W2007227212 hasConcept C134925867 @default.
• W2007227212 hasConcept C165984737 @default.
• W2007227212 hasConcept C188997412 @default.
• W2007227212 hasConcept C2780246931 @default.
• W2007227212 hasConcept C30481170 @default.
• W2007227212 hasConcept C35158069 @default.
• W2007227212 hasConcept C48737797 @default.
• W2007227212 hasConcept C501734568 @default.
• W2007227212 hasConcept C53226629 @default.
• W2007227212 hasConcept C54355233 @default.
• W2007227212 hasConcept C62564794 @default.
• W2007227212 hasConcept C7602840 @default.
• W2007227212 hasConcept C84597430 @default.
• W2007227212 hasConcept C86803240 @default.
• W2007227212 hasConceptScore W2007227212C104317684 @default.
• W2007227212 hasConceptScore W2007227212C134925867 @default.
• W2007227212 hasConceptScore W2007227212C165984737 @default.
• W2007227212 hasConceptScore W2007227212C188997412 @default.
• W2007227212 hasConceptScore W2007227212C2780246931 @default.
• W2007227212 hasConceptScore W2007227212C30481170 @default.
• W2007227212 hasConceptScore W2007227212C35158069 @default.
• W2007227212 hasConceptScore W2007227212C48737797 @default.
• W2007227212 hasConceptScore W2007227212C501734568 @default.
• W2007227212 hasConceptScore W2007227212C53226629 @default.
• W2007227212 hasConceptScore W2007227212C54355233 @default.
• W2007227212 hasConceptScore W2007227212C62564794 @default.
• W2007227212 hasConceptScore W2007227212C7602840 @default.
• W2007227212 hasConceptScore W2007227212C84597430 @default.

• next