FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1818326830> ?p ?o ?g. }

• W1818326830 endingPage "3179" @default.
• W1818326830 startingPage "3174" @default.
• W1818326830 abstract "Chromosome region 10q22.3-q23.3 contains several low copy repeats (LCRs) and is prone to recombination. Deletions with breakpoints within LCR3 and LCR4 have been described to be associated with intellectual disability and dysmorphic features, while the reciprocal duplications are rarely reported. We present an additional case with multiple congenital anomalies that include microcephaly, cardiac defect, and mild intellectual disability, in which a de novo interstitial 8.2-Mb duplication of 10q22.3-q23.3, including BMPR1A and NGR3, was identified by Illumina SNP array platform. Our study is consistent with the hypothesis that the BMPR1A is a plausible candidate gene for congenital heart disease (CHD) and should contribute to the diagnosis and treatment of these genomic diseases." @default.
• W1818326830 created "2016-06-24" @default.
• W1818326830 creator A5006214108 @default.
• W1818326830 creator A5006262914 @default.
• W1818326830 creator A5006742370 @default.
• W1818326830 creator A5012206751 @default.
• W1818326830 creator A5032764121 @default.
• W1818326830 creator A5035601780 @default.
• W1818326830 creator A5052120427 @default.
• W1818326830 creator A5054379269 @default.
• W1818326830 creator A5082137576 @default.
• W1818326830 date "2015-09-03" @default.
• W1818326830 modified "2023-10-17" @default.
• W1818326830 title "Duplication of 10q22.3-q23.3 encompassing<i>BMPR1A</i>and<i>NGR3</i>associated with congenital heart disease, microcephaly, and mild intellectual disability" @default.
• W1818326830 cites W1965983653 @default.
• W1818326830 cites W1993585858 @default.
• W1818326830 cites W1993832282 @default.
• W1818326830 cites W1996429039 @default.
• W1818326830 cites W2003986062 @default.
• W1818326830 cites W2034979835 @default.
• W1818326830 cites W2038629624 @default.
• W1818326830 cites W2049920737 @default.
• W1818326830 cites W2051977513 @default.
• W1818326830 cites W2063206230 @default.
• W1818326830 cites W2078310660 @default.
• W1818326830 cites W2081784815 @default.
• W1818326830 cites W2099250252 @default.
• W1818326830 cites W2106982327 @default.
• W1818326830 cites W2108217258 @default.
• W1818326830 cites W2126259129 @default.
• W1818326830 cites W2132344644 @default.
• W1818326830 cites W2144008094 @default.
• W1818326830 cites W2159505514 @default.
• W1818326830 doi "https://doi.org/10.1002/ajmg.a.37347" @default.
• W1818326830 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26383923" @default.
• W1818326830 hasPublicationYear "2015" @default.
• W1818326830 type Work @default.
• W1818326830 sameAs 1818326830 @default.
• W1818326830 citedByCount "10" @default.
• W1818326830 countsByYear W18183268302016 @default.
• W1818326830 countsByYear W18183268302017 @default.
• W1818326830 countsByYear W18183268302018 @default.
• W1818326830 countsByYear W18183268302019 @default.
• W1818326830 countsByYear W18183268302021 @default.
• W1818326830 countsByYear W18183268302022 @default.
• W1818326830 crossrefType "journal-article" @default.
• W1818326830 hasAuthorship W1818326830A5006214108 @default.
• W1818326830 hasAuthorship W1818326830A5006262914 @default.
• W1818326830 hasAuthorship W1818326830A5006742370 @default.
• W1818326830 hasAuthorship W1818326830A5012206751 @default.
• W1818326830 hasAuthorship W1818326830A5032764121 @default.
• W1818326830 hasAuthorship W1818326830A5035601780 @default.
• W1818326830 hasAuthorship W1818326830A5052120427 @default.
• W1818326830 hasAuthorship W1818326830A5054379269 @default.
• W1818326830 hasAuthorship W1818326830A5082137576 @default.
• W1818326830 hasConcept C104317684 @default.
• W1818326830 hasConcept C120821319 @default.
• W1818326830 hasConcept C141231307 @default.
• W1818326830 hasConcept C142724271 @default.
• W1818326830 hasConcept C206936463 @default.
• W1818326830 hasConcept C2776395126 @default.
• W1818326830 hasConcept C2780074459 @default.
• W1818326830 hasConcept C30481170 @default.
• W1818326830 hasConcept C54355233 @default.
• W1818326830 hasConcept C551499885 @default.
• W1818326830 hasConcept C71924100 @default.
• W1818326830 hasConcept C7602840 @default.
• W1818326830 hasConcept C86803240 @default.
• W1818326830 hasConceptScore W1818326830C104317684 @default.
• W1818326830 hasConceptScore W1818326830C120821319 @default.
• W1818326830 hasConceptScore W1818326830C141231307 @default.
• W1818326830 hasConceptScore W1818326830C142724271 @default.
• W1818326830 hasConceptScore W1818326830C206936463 @default.
• W1818326830 hasConceptScore W1818326830C2776395126 @default.
• W1818326830 hasConceptScore W1818326830C2780074459 @default.
• W1818326830 hasConceptScore W1818326830C30481170 @default.
• W1818326830 hasConceptScore W1818326830C54355233 @default.
• W1818326830 hasConceptScore W1818326830C551499885 @default.
• W1818326830 hasConceptScore W1818326830C71924100 @default.
• W1818326830 hasConceptScore W1818326830C7602840 @default.
• W1818326830 hasConceptScore W1818326830C86803240 @default.
• W1818326830 hasFunder F4320321001 @default.
• W1818326830 hasIssue "12" @default.
• W1818326830 hasLocation W18183268301 @default.
• W1818326830 hasLocation W18183268302 @default.
• W1818326830 hasOpenAccess W1818326830 @default.
• W1818326830 hasPrimaryLocation W18183268301 @default.
• W1818326830 hasRelatedWork W2020551877 @default.
• W1818326830 hasRelatedWork W2061001913 @default.
• W1818326830 hasRelatedWork W2100553974 @default.
• W1818326830 hasRelatedWork W2116306382 @default.
• W1818326830 hasRelatedWork W2120825501 @default.
• W1818326830 hasRelatedWork W2151523001 @default.
• W1818326830 hasRelatedWork W2173593107 @default.
• W1818326830 hasRelatedWork W2414400807 @default.
• W1818326830 hasRelatedWork W2901244054 @default.
• W1818326830 hasRelatedWork W3139274874 @default.
• W1818326830 hasVolume "167" @default.

• next