FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2404494621> ?p ?o ?g. }

• W2404494621 abstract "Structural rearrangements of chromosome 19p13.3 are a rare condition, and their phenotypic consequences remain not well defined, because of the variability of clinical manifestations. Increasing knowledge of new 19p13.3 microdeletion is useful to clarify the phenotypic variability observed in some patients. In a small number of recent papers, patients with intellectual disabilities, multiple congenital anomalies and microdeletion of the chromosome band 19p13.3 have been described. However, little is known about genes responsible for clinical features in patients carriers of 19p13.3 microdeletion; thus, increasing number of reported cases will be helpful to investigate the contribution of candidate genes, providing bases for future investigations. Here, we report on a 10-years-old girl referred to our genetics clinic due to intellectual disability, attention deficit, behavioral and speech delay, hypotonia, facial dysmorphisms, eye anomalies and congenital malformations. Using an high resolution SNP array, we identified a de novo microdeletion of chromosome 19p13.3, resulting in the heterozygous loss of 27 RefSeq genes and a miRNA, partially overlapping with three others deletions already reported in literature, but extending downstream (centromeric) for additional 386 Kb. This chromosomal region includes 13 genes amongst of which we suggest for the first time the APC2, PLK5 and MBD3 genes as potential functional candidates for neurodevelopmental and behavioral phenotypes observed. Here we describe a patient with a 19p13.3 microdeletion that spans to the downstream chromosomal region with respect to the overlapping deletions previously reported in several other cases. The neurobehavioral features observed in our case has extended the phenotypic spectrum associated with the 19p13.3 microdeletion. New candidate genes are proposed for the neurobehavioral phenotype observed in our case." @default.
• W2404494621 created "2016-06-24" @default.
• W2404494621 creator A5001811933 @default.
• W2404494621 creator A5013226469 @default.
• W2404494621 creator A5036893941 @default.
• W2404494621 creator A5055004849 @default.
• W2404494621 creator A5055336226 @default.
• W2404494621 creator A5071673730 @default.
• W2404494621 creator A5075595997 @default.
• W2404494621 date "2016-05-27" @default.
• W2404494621 modified "2023-10-18" @default.
• W2404494621 title "Clinical and molecular characterization of a de novo 19p13.3 microdeletion" @default.
• W2404494621 cites W1565980958 @default.
• W2404494621 cites W1974006226 @default.
• W2404494621 cites W1988974499 @default.
• W2404494621 cites W2006401070 @default.
• W2404494621 cites W2016256500 @default.
• W2404494621 cites W2016723283 @default.
• W2404494621 cites W2021456334 @default.
• W2404494621 cites W2029721215 @default.
• W2404494621 cites W2032844014 @default.
• W2404494621 cites W2046743060 @default.
• W2404494621 cites W2054408230 @default.
• W2404494621 cites W2055809555 @default.
• W2404494621 cites W2066853606 @default.
• W2404494621 cites W2086906637 @default.
• W2404494621 cites W2095085740 @default.
• W2404494621 cites W2144594443 @default.
• W2404494621 cites W2171449998 @default.
• W2404494621 cites W2275892633 @default.
• W2404494621 doi "https://doi.org/10.1186/s13039-016-0252-x" @default.
• W2404494621 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4882821" @default.
• W2404494621 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/27239227" @default.
• W2404494621 hasPublicationYear "2016" @default.
• W2404494621 type Work @default.
• W2404494621 sameAs 2404494621 @default.
• W2404494621 citedByCount "6" @default.
• W2404494621 countsByYear W24044946212018 @default.
• W2404494621 countsByYear W24044946212019 @default.
• W2404494621 countsByYear W24044946212021 @default.
• W2404494621 countsByYear W24044946212022 @default.
• W2404494621 countsByYear W24044946212023 @default.
• W2404494621 crossrefType "journal-article" @default.
• W2404494621 hasAuthorship W2404494621A5001811933 @default.
• W2404494621 hasAuthorship W2404494621A5013226469 @default.
• W2404494621 hasAuthorship W2404494621A5036893941 @default.
• W2404494621 hasAuthorship W2404494621A5055004849 @default.
• W2404494621 hasAuthorship W2404494621A5055336226 @default.
• W2404494621 hasAuthorship W2404494621A5071673730 @default.
• W2404494621 hasAuthorship W2404494621A5075595997 @default.
• W2404494621 hasBestOaLocation W24044946211 @default.
• W2404494621 hasConcept C104317684 @default.
• W2404494621 hasConcept C120821319 @default.
• W2404494621 hasConcept C127716648 @default.
• W2404494621 hasConcept C141231307 @default.
• W2404494621 hasConcept C2776984250 @default.
• W2404494621 hasConcept C2779546488 @default.
• W2404494621 hasConcept C2779674439 @default.
• W2404494621 hasConcept C30481170 @default.
• W2404494621 hasConcept C47042493 @default.
• W2404494621 hasConcept C54355233 @default.
• W2404494621 hasConcept C551499885 @default.
• W2404494621 hasConcept C60644358 @default.
• W2404494621 hasConcept C68838962 @default.
• W2404494621 hasConcept C69991583 @default.
• W2404494621 hasConcept C86803240 @default.
• W2404494621 hasConceptScore W2404494621C104317684 @default.
• W2404494621 hasConceptScore W2404494621C120821319 @default.
• W2404494621 hasConceptScore W2404494621C127716648 @default.
• W2404494621 hasConceptScore W2404494621C141231307 @default.
• W2404494621 hasConceptScore W2404494621C2776984250 @default.
• W2404494621 hasConceptScore W2404494621C2779546488 @default.
• W2404494621 hasConceptScore W2404494621C2779674439 @default.
• W2404494621 hasConceptScore W2404494621C30481170 @default.
• W2404494621 hasConceptScore W2404494621C47042493 @default.
• W2404494621 hasConceptScore W2404494621C54355233 @default.
• W2404494621 hasConceptScore W2404494621C551499885 @default.
• W2404494621 hasConceptScore W2404494621C60644358 @default.
• W2404494621 hasConceptScore W2404494621C68838962 @default.
• W2404494621 hasConceptScore W2404494621C69991583 @default.
• W2404494621 hasConceptScore W2404494621C86803240 @default.
• W2404494621 hasFunder F4320321781 @default.
• W2404494621 hasIssue "1" @default.
• W2404494621 hasLocation W24044946211 @default.
• W2404494621 hasLocation W24044946212 @default.
• W2404494621 hasLocation W24044946213 @default.
• W2404494621 hasLocation W24044946214 @default.
• W2404494621 hasOpenAccess W2404494621 @default.
• W2404494621 hasPrimaryLocation W24044946211 @default.
• W2404494621 hasRelatedWork W1672818023 @default.
• W2404494621 hasRelatedWork W2023017703 @default.
• W2404494621 hasRelatedWork W2597501874 @default.
• W2404494621 hasRelatedWork W2744948896 @default.
• W2404494621 hasRelatedWork W2778508829 @default.
• W2404494621 hasRelatedWork W2808749060 @default.
• W2404494621 hasRelatedWork W2918805860 @default.
• W2404494621 hasRelatedWork W2990174128 @default.
• W2404494621 hasRelatedWork W4296995089 @default.
• W2404494621 hasRelatedWork W4382182752 @default.
• W2404494621 hasVolume "9" @default.

• next