FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2013983432> ?p ?o ?g. }

• W2013983432 endingPage "489" @default.
• W2013983432 startingPage "486" @default.
• W2013983432 abstract "Jacobsen syndrome (JBS) is a haploinsufficiency syndrome caused by partial deletion of the long arm of chromosome 11. It is characterized by developmental delay (DD)/mental retardation (MR), physical growth retardation, facial dysmorphism, visceral malformations and thrombocytopenia. We report two JBS patients from China out of a total of 451 patients with unexplained DD/MR. The genotypes of these patients were compared with earlier reported patients in North America and Europe. Both patients presented with severe DD, microcephaly and facial dysmorphism; one patient had a low birth weight, congenital heart disease and structural brain abnormalities. Neither patient was thrombocytopenic at the time of diagnosis. The two deletions were 4.1 and 12.8 Mb. The 4.1 Mb deletion is the smallest of all pathogenic regions earlier reported in JBS. Therefore, the critical region underlying DD/MR might be located in the distal portion of the chromosomal segment within 4.1 Mb of the telomere. Candidate genes for DD/MR in this region include SNX19, THYN1, OPCML, NCAPD3 and NTM. One of the critical regions for craniofacial abnormalities may be within 130.3–134.4 Mb in chromosome 11q. Further analysis of Chinese JBS patients would elucidate the relation of phenotype to genotype further." @default.
• W2013983432 created "2016-06-24" @default.
• W2013983432 creator A5015330549 @default.
• W2013983432 creator A5020221872 @default.
• W2013983432 creator A5032245741 @default.
• W2013983432 creator A5035914897 @default.
• W2013983432 creator A5087369332 @default.
• W2013983432 date "2010-06-03" @default.
• W2013983432 modified "2023-10-15" @default.
• W2013983432 title "Diagnosis and fine mapping of a deletion in distal 11q in two Chinese patients with developmental delay" @default.
• W2013983432 cites W1978978873 @default.
• W2013983432 cites W1981352611 @default.
• W2013983432 cites W1981850454 @default.
• W2013983432 cites W2007563097 @default.
• W2013983432 cites W2024920107 @default.
• W2013983432 cites W2028386477 @default.
• W2013983432 cites W2040548870 @default.
• W2013983432 cites W2067239645 @default.
• W2013983432 cites W2079079941 @default.
• W2013983432 cites W2081659484 @default.
• W2013983432 cites W2089607987 @default.
• W2013983432 cites W2090648939 @default.
• W2013983432 cites W2097703437 @default.
• W2013983432 cites W2123497822 @default.
• W2013983432 cites W2126206178 @default.
• W2013983432 cites W2167064657 @default.
• W2013983432 cites W3190169027 @default.
• W2013983432 doi "https://doi.org/10.1038/jhg.2010.51" @default.
• W2013983432 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20520618" @default.
• W2013983432 hasPublicationYear "2010" @default.
• W2013983432 type Work @default.
• W2013983432 sameAs 2013983432 @default.
• W2013983432 citedByCount "27" @default.
• W2013983432 countsByYear W20139834322012 @default.
• W2013983432 countsByYear W20139834322013 @default.
• W2013983432 countsByYear W20139834322014 @default.
• W2013983432 countsByYear W20139834322015 @default.
• W2013983432 countsByYear W20139834322016 @default.
• W2013983432 countsByYear W20139834322018 @default.
• W2013983432 countsByYear W20139834322019 @default.
• W2013983432 countsByYear W20139834322020 @default.
• W2013983432 countsByYear W20139834322021 @default.
• W2013983432 countsByYear W20139834322022 @default.
• W2013983432 countsByYear W20139834322023 @default.
• W2013983432 crossrefType "journal-article" @default.
• W2013983432 hasAuthorship W2013983432A5015330549 @default.
• W2013983432 hasAuthorship W2013983432A5020221872 @default.
• W2013983432 hasAuthorship W2013983432A5032245741 @default.
• W2013983432 hasAuthorship W2013983432A5035914897 @default.
• W2013983432 hasAuthorship W2013983432A5087369332 @default.
• W2013983432 hasBestOaLocation W20139834321 @default.
• W2013983432 hasConcept C104317684 @default.
• W2013983432 hasConcept C124942203 @default.
• W2013983432 hasConcept C127716648 @default.
• W2013983432 hasConcept C23069440 @default.
• W2013983432 hasConcept C2776395126 @default.
• W2013983432 hasConcept C2779234561 @default.
• W2013983432 hasConcept C2779674439 @default.
• W2013983432 hasConcept C2779688443 @default.
• W2013983432 hasConcept C2781245598 @default.
• W2013983432 hasConcept C2909805974 @default.
• W2013983432 hasConcept C3020253223 @default.
• W2013983432 hasConcept C3020705096 @default.
• W2013983432 hasConcept C30481170 @default.
• W2013983432 hasConcept C54355233 @default.
• W2013983432 hasConcept C68838962 @default.
• W2013983432 hasConcept C71924100 @default.
• W2013983432 hasConcept C86803240 @default.
• W2013983432 hasConceptScore W2013983432C104317684 @default.
• W2013983432 hasConceptScore W2013983432C124942203 @default.
• W2013983432 hasConceptScore W2013983432C127716648 @default.
• W2013983432 hasConceptScore W2013983432C23069440 @default.
• W2013983432 hasConceptScore W2013983432C2776395126 @default.
• W2013983432 hasConceptScore W2013983432C2779234561 @default.
• W2013983432 hasConceptScore W2013983432C2779674439 @default.
• W2013983432 hasConceptScore W2013983432C2779688443 @default.
• W2013983432 hasConceptScore W2013983432C2781245598 @default.
• W2013983432 hasConceptScore W2013983432C2909805974 @default.
• W2013983432 hasConceptScore W2013983432C3020253223 @default.
• W2013983432 hasConceptScore W2013983432C3020705096 @default.
• W2013983432 hasConceptScore W2013983432C30481170 @default.
• W2013983432 hasConceptScore W2013983432C54355233 @default.
• W2013983432 hasConceptScore W2013983432C68838962 @default.
• W2013983432 hasConceptScore W2013983432C71924100 @default.
• W2013983432 hasConceptScore W2013983432C86803240 @default.
• W2013983432 hasIssue "8" @default.
• W2013983432 hasLocation W20139834321 @default.
• W2013983432 hasLocation W20139834322 @default.
• W2013983432 hasOpenAccess W2013983432 @default.
• W2013983432 hasPrimaryLocation W20139834321 @default.
• W2013983432 hasRelatedWork W1999968889 @default.
• W2013983432 hasRelatedWork W2013983432 @default.
• W2013983432 hasRelatedWork W2034372666 @default.
• W2013983432 hasRelatedWork W2045061266 @default.
• W2013983432 hasRelatedWork W2052084011 @default.
• W2013983432 hasRelatedWork W2054624833 @default.
• W2013983432 hasRelatedWork W2092954071 @default.
• W2013983432 hasRelatedWork W2101577241 @default.

• next