FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2040010104> ?p ?o ?g. }

• W2040010104 endingPage "336" @default.
• W2040010104 startingPage "333" @default.
• W2040010104 abstract "We report on the first case of a child with a de novo 7q terminal deletion [46,XX,del(7)(q35 → qter)] presenting esophageal stenosis. This cytogenetic abnormality was confirmed by FISH, using subtelomeric probes, and by a whole-genome array-CGH assay. The child also had phenotypic features previously described in patients with a similar deletion, as growth retardation, microcephaly, coloboma of papilla, ptosis, hearing loss, urinary tract anomalies, partial agenesis of sacrum, hypotonia and neuropsychomotor delay. The odontoid hypoplasia identified, in similarity with the esophageal stenosis, represents an uncommon finding. This report is also the first clinical description of a patient with an abnormality involving the sonic hedgehog gene and an esophageal alteration. It is discussed the possibility of a specific association between them, according to some results observed in studies with animal models." @default.
• W2040010104 created "2016-06-24" @default.
• W2040010104 creator A5014140766 @default.
• W2040010104 creator A5021968370 @default.
• W2040010104 creator A5055891634 @default.
• W2040010104 creator A5056742220 @default.
• W2040010104 creator A5063929685 @default.
• W2040010104 creator A5065494759 @default.
• W2040010104 creator A5072196214 @default.
• W2040010104 date "2010-09-01" @default.
• W2040010104 modified "2023-09-26" @default.
• W2040010104 title "Esophageal stenosis in a child presenting a de novo 7q terminal deletion" @default.
• W2040010104 cites W1494381630 @default.
• W2040010104 cites W1607596367 @default.
• W2040010104 cites W1973463663 @default.
• W2040010104 cites W1997790208 @default.
• W2040010104 cites W1998626213 @default.
• W2040010104 cites W2007192444 @default.
• W2040010104 cites W2088832380 @default.
• W2040010104 cites W2116137577 @default.
• W2040010104 cites W2138692444 @default.
• W2040010104 cites W2143431999 @default.
• W2040010104 cites W2147119774 @default.
• W2040010104 cites W2162406365 @default.
• W2040010104 cites W2167947151 @default.
• W2040010104 cites W4251611658 @default.
• W2040010104 doi "https://doi.org/10.1016/j.ejmg.2010.06.008" @default.
• W2040010104 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20601258" @default.
• W2040010104 hasPublicationYear "2010" @default.
• W2040010104 type Work @default.
• W2040010104 sameAs 2040010104 @default.
• W2040010104 citedByCount "20" @default.
• W2040010104 countsByYear W20400101042012 @default.
• W2040010104 countsByYear W20400101042013 @default.
• W2040010104 countsByYear W20400101042014 @default.
• W2040010104 countsByYear W20400101042015 @default.
• W2040010104 countsByYear W20400101042016 @default.
• W2040010104 countsByYear W20400101042018 @default.
• W2040010104 countsByYear W20400101042019 @default.
• W2040010104 countsByYear W20400101042020 @default.
• W2040010104 countsByYear W20400101042022 @default.
• W2040010104 countsByYear W20400101042023 @default.
• W2040010104 crossrefType "journal-article" @default.
• W2040010104 hasAuthorship W2040010104A5014140766 @default.
• W2040010104 hasAuthorship W2040010104A5021968370 @default.
• W2040010104 hasAuthorship W2040010104A5055891634 @default.
• W2040010104 hasAuthorship W2040010104A5056742220 @default.
• W2040010104 hasAuthorship W2040010104A5063929685 @default.
• W2040010104 hasAuthorship W2040010104A5065494759 @default.
• W2040010104 hasAuthorship W2040010104A5072196214 @default.
• W2040010104 hasConcept C104317684 @default.
• W2040010104 hasConcept C105702510 @default.
• W2040010104 hasConcept C118552586 @default.
• W2040010104 hasConcept C126322002 @default.
• W2040010104 hasConcept C142724271 @default.
• W2040010104 hasConcept C2776395126 @default.
• W2040010104 hasConcept C2776637008 @default.
• W2040010104 hasConcept C2777229141 @default.
• W2040010104 hasConcept C2779546488 @default.
• W2040010104 hasConcept C2780327212 @default.
• W2040010104 hasConcept C2781149206 @default.
• W2040010104 hasConcept C50965678 @default.
• W2040010104 hasConcept C54355233 @default.
• W2040010104 hasConcept C71924100 @default.
• W2040010104 hasConcept C86803240 @default.
• W2040010104 hasConceptScore W2040010104C104317684 @default.
• W2040010104 hasConceptScore W2040010104C105702510 @default.
• W2040010104 hasConceptScore W2040010104C118552586 @default.
• W2040010104 hasConceptScore W2040010104C126322002 @default.
• W2040010104 hasConceptScore W2040010104C142724271 @default.
• W2040010104 hasConceptScore W2040010104C2776395126 @default.
• W2040010104 hasConceptScore W2040010104C2776637008 @default.
• W2040010104 hasConceptScore W2040010104C2777229141 @default.
• W2040010104 hasConceptScore W2040010104C2779546488 @default.
• W2040010104 hasConceptScore W2040010104C2780327212 @default.
• W2040010104 hasConceptScore W2040010104C2781149206 @default.
• W2040010104 hasConceptScore W2040010104C50965678 @default.
• W2040010104 hasConceptScore W2040010104C54355233 @default.
• W2040010104 hasConceptScore W2040010104C71924100 @default.
• W2040010104 hasConceptScore W2040010104C86803240 @default.
• W2040010104 hasIssue "5" @default.
• W2040010104 hasLocation W20400101041 @default.
• W2040010104 hasLocation W20400101042 @default.
• W2040010104 hasOpenAccess W2040010104 @default.
• W2040010104 hasPrimaryLocation W20400101041 @default.
• W2040010104 hasRelatedWork W2007463725 @default.
• W2040010104 hasRelatedWork W2025492057 @default.
• W2040010104 hasRelatedWork W2036628413 @default.
• W2040010104 hasRelatedWork W2040010104 @default.
• W2040010104 hasRelatedWork W2107325968 @default.
• W2040010104 hasRelatedWork W2115398576 @default.
• W2040010104 hasRelatedWork W3179937851 @default.
• W2040010104 hasRelatedWork W4223584133 @default.
• W2040010104 hasRelatedWork W4283786269 @default.
• W2040010104 hasRelatedWork W4298263147 @default.
• W2040010104 hasVolume "53" @default.
• W2040010104 isParatext "false" @default.
• W2040010104 isRetracted "false" @default.

• next