FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4282942649> ?p ?o ?g. }

• W4282942649 endingPage "780" @default.
• W4282942649 startingPage "780" @default.
• W4282942649 abstract "Interstitial deletions of the long arm of chromosome 12 are rare, with a dozen patients carrying a deletion in 12q21 being reported. Recently a critical region (CR) has been delimited and could be responsible for the more commonly described clinical features, such as developmental delay/intellectual disability, congenital genitourinary and brain malformations. Other, less frequent, clinical signs do not seem to be correlated to the proposed CR. We present seven new patients harboring non-recurrent deletions ranging from 1 to 18.5 Mb differentially scattered across 12q21. Alongside more common clinical signs, some patients have rarer features such as heart defects, hearing loss, hypotonia and dysmorphisms. The correlation of haploinsufficiency of genes outside the CR to specific signs contributes to our knowledge of the effect of the deletion of this gene-poor region of chromosome 12q. This work underlines the still important role of copy number variations in the diagnostic setting of syndromic patients and the positive reflection on management and family genetic counseling." @default.
• W4282942649 created "2022-06-16" @default.
• W4282942649 creator A5000674412 @default.
• W4282942649 creator A5009654642 @default.
• W4282942649 creator A5016964648 @default.
• W4282942649 creator A5017128083 @default.
• W4282942649 creator A5018658741 @default.
• W4282942649 creator A5019944754 @default.
• W4282942649 creator A5032812342 @default.
• W4282942649 creator A5037477509 @default.
• W4282942649 creator A5039524599 @default.
• W4282942649 creator A5052521977 @default.
• W4282942649 creator A5059107542 @default.
• W4282942649 creator A5059524154 @default.
• W4282942649 creator A5061344031 @default.
• W4282942649 creator A5061375266 @default.
• W4282942649 creator A5066360031 @default.
• W4282942649 creator A5077231435 @default.
• W4282942649 creator A5078386066 @default.
• W4282942649 creator A5079667017 @default.
• W4282942649 creator A5082482773 @default.
• W4282942649 creator A5086325801 @default.
• W4282942649 creator A5088730465 @default.
• W4282942649 creator A5089104289 @default.
• W4282942649 date "2022-04-27" @default.
• W4282942649 modified "2023-09-25" @default.
• W4282942649 title "12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature" @default.
• W4282942649 cites W1170572861 @default.
• W4282942649 cites W1905681146 @default.
• W4282942649 cites W1974342594 @default.
• W4282942649 cites W2015417648 @default.
• W4282942649 cites W2030467010 @default.
• W4282942649 cites W2061504673 @default.
• W4282942649 cites W2089549631 @default.
• W4282942649 cites W2116302199 @default.
• W4282942649 cites W2171150038 @default.
• W4282942649 cites W2273752531 @default.
• W4282942649 cites W2421443978 @default.
• W4282942649 cites W2886330399 @default.
• W4282942649 cites W2886647239 @default.
• W4282942649 cites W2938479230 @default.
• W4282942649 cites W2994678601 @default.
• W4282942649 cites W2998407409 @default.
• W4282942649 cites W3042013750 @default.
• W4282942649 doi "https://doi.org/10.3390/genes13050780" @default.
• W4282942649 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35627165" @default.
• W4282942649 hasPublicationYear "2022" @default.
• W4282942649 type Work @default.
• W4282942649 citedByCount "0" @default.
• W4282942649 crossrefType "journal-article" @default.
• W4282942649 hasAuthorship W4282942649A5000674412 @default.
• W4282942649 hasAuthorship W4282942649A5009654642 @default.
• W4282942649 hasAuthorship W4282942649A5016964648 @default.
• W4282942649 hasAuthorship W4282942649A5017128083 @default.
• W4282942649 hasAuthorship W4282942649A5018658741 @default.
• W4282942649 hasAuthorship W4282942649A5019944754 @default.
• W4282942649 hasAuthorship W4282942649A5032812342 @default.
• W4282942649 hasAuthorship W4282942649A5037477509 @default.
• W4282942649 hasAuthorship W4282942649A5039524599 @default.
• W4282942649 hasAuthorship W4282942649A5052521977 @default.
• W4282942649 hasAuthorship W4282942649A5059107542 @default.
• W4282942649 hasAuthorship W4282942649A5059524154 @default.
• W4282942649 hasAuthorship W4282942649A5061344031 @default.
• W4282942649 hasAuthorship W4282942649A5061375266 @default.
• W4282942649 hasAuthorship W4282942649A5066360031 @default.
• W4282942649 hasAuthorship W4282942649A5077231435 @default.
• W4282942649 hasAuthorship W4282942649A5078386066 @default.
• W4282942649 hasAuthorship W4282942649A5079667017 @default.
• W4282942649 hasAuthorship W4282942649A5082482773 @default.
• W4282942649 hasAuthorship W4282942649A5086325801 @default.
• W4282942649 hasAuthorship W4282942649A5088730465 @default.
• W4282942649 hasAuthorship W4282942649A5089104289 @default.
• W4282942649 hasBestOaLocation W42829426491 @default.
• W4282942649 hasConcept C104317684 @default.
• W4282942649 hasConcept C126322002 @default.
• W4282942649 hasConcept C127716648 @default.
• W4282942649 hasConcept C133507102 @default.
• W4282942649 hasConcept C206936463 @default.
• W4282942649 hasConcept C2779546488 @default.
• W4282942649 hasConcept C3020253223 @default.
• W4282942649 hasConcept C30481170 @default.
• W4282942649 hasConcept C47042493 @default.
• W4282942649 hasConcept C54355233 @default.
• W4282942649 hasConcept C551499885 @default.
• W4282942649 hasConcept C68838962 @default.
• W4282942649 hasConcept C71924100 @default.
• W4282942649 hasConcept C80227256 @default.
• W4282942649 hasConcept C86803240 @default.
• W4282942649 hasConceptScore W4282942649C104317684 @default.
• W4282942649 hasConceptScore W4282942649C126322002 @default.
• W4282942649 hasConceptScore W4282942649C127716648 @default.
• W4282942649 hasConceptScore W4282942649C133507102 @default.
• W4282942649 hasConceptScore W4282942649C206936463 @default.
• W4282942649 hasConceptScore W4282942649C2779546488 @default.
• W4282942649 hasConceptScore W4282942649C3020253223 @default.
• W4282942649 hasConceptScore W4282942649C30481170 @default.
• W4282942649 hasConceptScore W4282942649C47042493 @default.
• W4282942649 hasConceptScore W4282942649C54355233 @default.

• next