Matches in SemOpenAlex for { <https://semopenalex.org/work/W2326490613> ?p ?o ?g. }
- W2326490613 endingPage "4250" @default.
- W2326490613 startingPage "4243" @default.
- W2326490613 abstract "Turner syndrome (TS) is a chronic disease related to haploinsufficiency of genes that are normally expressed in both X chromosomes in patients with female phenotype that is associated with a wide range of somatic malformations. We made detailed cytogenetic and clinical analysis of 65 patients with TS from the region of Recife, Brazil, to determine the effects of different chromosome constitutions on expression of the TS phenotype. Overall, patients with X-monosomy exhibited a tendency to have more severe phenotypes with higher morbidity, showing its importance in TS prognosis. Additionally, we found rare genetic and phenotypic abnormalities associated with this syndrome. To the best of our knowledge, this is the first case of 45,X,t(11;12)(q22;q22) described as a TS karyotype. Turner patients usually have normal intelligence; however, moderate to severe levels of mental retardation were found in 5 TS cases, which is considerate a very uncommon feature in this syndrome." @default.
- W2326490613 created "2016-06-24" @default.
- W2326490613 creator A5000155966 @default.
- W2326490613 creator A5002986700 @default.
- W2326490613 creator A5008899952 @default.
- W2326490613 creator A5019076583 @default.
- W2326490613 creator A5032895593 @default.
- W2326490613 creator A5050853169 @default.
- W2326490613 creator A5062149881 @default.
- W2326490613 creator A5062293078 @default.
- W2326490613 creator A5079214882 @default.
- W2326490613 creator A5085458893 @default.
- W2326490613 creator A5088058668 @default.
- W2326490613 date "2013-01-01" @default.
- W2326490613 modified "2023-10-01" @default.
- W2326490613 title "Effect of chromosome constitution variations on the expression of Turner phenotype" @default.
- W2326490613 cites W110551999 @default.
- W2326490613 cites W137239952 @default.
- W2326490613 cites W1977062932 @default.
- W2326490613 cites W1977310611 @default.
- W2326490613 cites W1993365389 @default.
- W2326490613 cites W2002975374 @default.
- W2326490613 cites W2012705106 @default.
- W2326490613 cites W2020197677 @default.
- W2326490613 cites W2022152645 @default.
- W2326490613 cites W2028923785 @default.
- W2326490613 cites W2036760085 @default.
- W2326490613 cites W2039483247 @default.
- W2326490613 cites W2057862933 @default.
- W2326490613 cites W2060800880 @default.
- W2326490613 cites W2071114725 @default.
- W2326490613 cites W2079202252 @default.
- W2326490613 cites W2081983661 @default.
- W2326490613 cites W2082694914 @default.
- W2326490613 cites W2090842366 @default.
- W2326490613 cites W2098576381 @default.
- W2326490613 cites W2107517899 @default.
- W2326490613 cites W2108225960 @default.
- W2326490613 cites W2120137153 @default.
- W2326490613 cites W2124280972 @default.
- W2326490613 cites W2141192645 @default.
- W2326490613 cites W2143652510 @default.
- W2326490613 cites W2143934537 @default.
- W2326490613 cites W2164428324 @default.
- W2326490613 cites W2183634280 @default.
- W2326490613 cites W2398163431 @default.
- W2326490613 cites W2400905152 @default.
- W2326490613 cites W3133615983 @default.
- W2326490613 cites W260652146 @default.
- W2326490613 doi "https://doi.org/10.4238/2013.march.13.13" @default.
- W2326490613 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23546984" @default.
- W2326490613 hasPublicationYear "2013" @default.
- W2326490613 type Work @default.
- W2326490613 sameAs 2326490613 @default.
- W2326490613 citedByCount "18" @default.
- W2326490613 countsByYear W23264906132014 @default.
- W2326490613 countsByYear W23264906132015 @default.
- W2326490613 countsByYear W23264906132017 @default.
- W2326490613 countsByYear W23264906132018 @default.
- W2326490613 countsByYear W23264906132019 @default.
- W2326490613 countsByYear W23264906132020 @default.
- W2326490613 countsByYear W23264906132021 @default.
- W2326490613 countsByYear W23264906132022 @default.
- W2326490613 countsByYear W23264906132023 @default.
- W2326490613 crossrefType "journal-article" @default.
- W2326490613 hasAuthorship W2326490613A5000155966 @default.
- W2326490613 hasAuthorship W2326490613A5002986700 @default.
- W2326490613 hasAuthorship W2326490613A5008899952 @default.
- W2326490613 hasAuthorship W2326490613A5019076583 @default.
- W2326490613 hasAuthorship W2326490613A5032895593 @default.
- W2326490613 hasAuthorship W2326490613A5050853169 @default.
- W2326490613 hasAuthorship W2326490613A5062149881 @default.
- W2326490613 hasAuthorship W2326490613A5062293078 @default.
- W2326490613 hasAuthorship W2326490613A5079214882 @default.
- W2326490613 hasAuthorship W2326490613A5085458893 @default.
- W2326490613 hasAuthorship W2326490613A5088058668 @default.
- W2326490613 hasBestOaLocation W23264906131 @default.
- W2326490613 hasConcept C104317684 @default.
- W2326490613 hasConcept C127716648 @default.
- W2326490613 hasConcept C134018914 @default.
- W2326490613 hasConcept C2779142324 @default.
- W2326490613 hasConcept C2779683239 @default.
- W2326490613 hasConcept C30481170 @default.
- W2326490613 hasConcept C35158069 @default.
- W2326490613 hasConcept C53226629 @default.
- W2326490613 hasConcept C54355233 @default.
- W2326490613 hasConcept C68838962 @default.
- W2326490613 hasConcept C86803240 @default.
- W2326490613 hasConceptScore W2326490613C104317684 @default.
- W2326490613 hasConceptScore W2326490613C127716648 @default.
- W2326490613 hasConceptScore W2326490613C134018914 @default.
- W2326490613 hasConceptScore W2326490613C2779142324 @default.
- W2326490613 hasConceptScore W2326490613C2779683239 @default.
- W2326490613 hasConceptScore W2326490613C30481170 @default.
- W2326490613 hasConceptScore W2326490613C35158069 @default.
- W2326490613 hasConceptScore W2326490613C53226629 @default.
- W2326490613 hasConceptScore W2326490613C54355233 @default.
- W2326490613 hasConceptScore W2326490613C68838962 @default.