Matches in SemOpenAlex for { <https://semopenalex.org/work/W1990785563> ?p ?o ?g. }
Showing items 1 to 97 of
97
with 100 items per page.
- W1990785563 endingPage "310" @default.
- W1990785563 startingPage "308" @default.
- W1990785563 abstract "13q deletion syndrome is a rare genetic disorder caused by deletions of the long arm of chromosome 13. Patients with 13q deletion display a variety of phenotypic features. We describe a one-year-old female patient with congenital heart defects (CHD), facial anomalies, development and mental retardation. We identified a 12.75Mb deletion in chromosome region 13q33.1-34 with high resolution SNP Array (Human660W-Quad, Illumina, USA). This chromosome region contains about 55 genes, including EFNB2, ERCC5, VGCNL1, F7, and F10. Comparing our findings with previously reported 13q deletion patients with congenital heart defects, we propose that the 13q33.1-34 deletion region might contain key gene(s) associated with cardiac development. Our study also identified a subclinical deficiency of Factors VII and X in our patient with Group 3 of 13q deletion syndrome." @default.
- W1990785563 created "2016-06-24" @default.
- W1990785563 creator A5032764121 @default.
- W1990785563 creator A5044812167 @default.
- W1990785563 creator A5054379269 @default.
- W1990785563 creator A5069330189 @default.
- W1990785563 creator A5069849278 @default.
- W1990785563 creator A5082137576 @default.
- W1990785563 creator A5086510648 @default.
- W1990785563 date "2012-05-01" @default.
- W1990785563 modified "2023-10-06" @default.
- W1990785563 title "Congenital heart defect and mental retardation in a patient with a 13q33.1-34 deletion" @default.
- W1990785563 cites W1492931178 @default.
- W1990785563 cites W1820643878 @default.
- W1990785563 cites W1977509333 @default.
- W1990785563 cites W1981784854 @default.
- W1990785563 cites W1987832905 @default.
- W1990785563 cites W2011895904 @default.
- W1990785563 cites W2027550391 @default.
- W1990785563 cites W2040640044 @default.
- W1990785563 cites W2059936703 @default.
- W1990785563 cites W2087740763 @default.
- W1990785563 cites W2134319189 @default.
- W1990785563 cites W2145636711 @default.
- W1990785563 cites W2157875535 @default.
- W1990785563 cites W2398175850 @default.
- W1990785563 cites W4323254009 @default.
- W1990785563 doi "https://doi.org/10.1016/j.gene.2012.01.083" @default.
- W1990785563 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22366306" @default.
- W1990785563 hasPublicationYear "2012" @default.
- W1990785563 type Work @default.
- W1990785563 sameAs 1990785563 @default.
- W1990785563 citedByCount "28" @default.
- W1990785563 countsByYear W19907855632012 @default.
- W1990785563 countsByYear W19907855632013 @default.
- W1990785563 countsByYear W19907855632015 @default.
- W1990785563 countsByYear W19907855632016 @default.
- W1990785563 countsByYear W19907855632017 @default.
- W1990785563 countsByYear W19907855632018 @default.
- W1990785563 countsByYear W19907855632019 @default.
- W1990785563 countsByYear W19907855632020 @default.
- W1990785563 countsByYear W19907855632021 @default.
- W1990785563 countsByYear W19907855632023 @default.
- W1990785563 crossrefType "journal-article" @default.
- W1990785563 hasAuthorship W1990785563A5032764121 @default.
- W1990785563 hasAuthorship W1990785563A5044812167 @default.
- W1990785563 hasAuthorship W1990785563A5054379269 @default.
- W1990785563 hasAuthorship W1990785563A5069330189 @default.
- W1990785563 hasAuthorship W1990785563A5069849278 @default.
- W1990785563 hasAuthorship W1990785563A5082137576 @default.
- W1990785563 hasAuthorship W1990785563A5086510648 @default.
- W1990785563 hasConcept C104317684 @default.
- W1990785563 hasConcept C113280763 @default.
- W1990785563 hasConcept C127716648 @default.
- W1990785563 hasConcept C135763542 @default.
- W1990785563 hasConcept C139275648 @default.
- W1990785563 hasConcept C153209595 @default.
- W1990785563 hasConcept C159047783 @default.
- W1990785563 hasConcept C2780907584 @default.
- W1990785563 hasConcept C3020253223 @default.
- W1990785563 hasConcept C30481170 @default.
- W1990785563 hasConcept C54355233 @default.
- W1990785563 hasConcept C86803240 @default.
- W1990785563 hasConceptScore W1990785563C104317684 @default.
- W1990785563 hasConceptScore W1990785563C113280763 @default.
- W1990785563 hasConceptScore W1990785563C127716648 @default.
- W1990785563 hasConceptScore W1990785563C135763542 @default.
- W1990785563 hasConceptScore W1990785563C139275648 @default.
- W1990785563 hasConceptScore W1990785563C153209595 @default.
- W1990785563 hasConceptScore W1990785563C159047783 @default.
- W1990785563 hasConceptScore W1990785563C2780907584 @default.
- W1990785563 hasConceptScore W1990785563C3020253223 @default.
- W1990785563 hasConceptScore W1990785563C30481170 @default.
- W1990785563 hasConceptScore W1990785563C54355233 @default.
- W1990785563 hasConceptScore W1990785563C86803240 @default.
- W1990785563 hasIssue "2" @default.
- W1990785563 hasLocation W19907855631 @default.
- W1990785563 hasLocation W19907855632 @default.
- W1990785563 hasOpenAccess W1990785563 @default.
- W1990785563 hasPrimaryLocation W19907855631 @default.
- W1990785563 hasRelatedWork W1969117995 @default.
- W1990785563 hasRelatedWork W1974501371 @default.
- W1990785563 hasRelatedWork W2003470275 @default.
- W1990785563 hasRelatedWork W2071268421 @default.
- W1990785563 hasRelatedWork W2090452573 @default.
- W1990785563 hasRelatedWork W2091251011 @default.
- W1990785563 hasRelatedWork W2104925110 @default.
- W1990785563 hasRelatedWork W2317018755 @default.
- W1990785563 hasRelatedWork W3011462256 @default.
- W1990785563 hasRelatedWork W3151103157 @default.
- W1990785563 hasVolume "498" @default.
- W1990785563 isParatext "false" @default.
- W1990785563 isRetracted "false" @default.
- W1990785563 magId "1990785563" @default.
- W1990785563 workType "article" @default.