FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1970270413> ?p ?o ?g. }

• W1970270413 endingPage "798" @default.
• W1970270413 startingPage "791" @default.
• W1970270413 abstract "We report on a young male with moderate mental retardation, dysmorphic features, and language delay who is deleted for 7q31.1-7q31.31. His full karyotype is 46,XY,der(7)del(7)(q31.1q31.31)ins(10;7)(q24.3;q31.1q31.31)mat. This child had language impairment, including developmental verbal dyspraxia, but did not meet criteria for autism according to standardized ADOS testing. Our patient's deletion, which is the smallest reported deletion including FOXP2, adds to the body of evidence that supports the role of FOXP2 in speech and language impairment, but not in autism. A reported association between autism and deletions of WNT2, a gene also deleted in our patient, is likewise not supported by our case. Previously, fine mapping with microsatellites markers within in a large three-generation family, in which half the members had severe specific language impairment, aided the localization of the SPCH1 locus to 7q31 within markers D7S2459 (107.1 Mb) and D7S643 (120.5 Mb). Additionally, chromosome rearrangement of 7q31 and mutational analyses have supported the growing evidence that FOXP2, a gene within the SPCH1 region, is involved with speech and language development. It is unclear however whether the AUTS1 (autistic spectrum 1) locus, highly linked to 7q31, overlaps with the SPCH1 and FOXP2. © 2007 Wiley-Liss, Inc." @default.
• W1970270413 created "2016-06-24" @default.
• W1970270413 creator A5004704626 @default.
• W1970270413 creator A5005378944 @default.
• W1970270413 creator A5005789696 @default.
• W1970270413 creator A5006247268 @default.
• W1970270413 creator A5010629895 @default.
• W1970270413 creator A5011382435 @default.
• W1970270413 creator A5061084392 @default.
• W1970270413 creator A5089936608 @default.
• W1970270413 date "2007-01-01" @default.
• W1970270413 modified "2023-10-10" @default.
• W1970270413 title "Deletion of 7q31.1 supports involvement ofFOXP2 in language impairment: Clinical report and review" @default.
• W1970270413 cites W1964089478 @default.
• W1970270413 cites W1972102450 @default.
• W1970270413 cites W1975035795 @default.
• W1970270413 cites W1975430279 @default.
• W1970270413 cites W1975853332 @default.
• W1970270413 cites W1976862716 @default.
• W1970270413 cites W1979626271 @default.
• W1970270413 cites W1980001686 @default.
• W1970270413 cites W1981147791 @default.
• W1970270413 cites W1982021752 @default.
• W1970270413 cites W1987342312 @default.
• W1970270413 cites W2015163732 @default.
• W1970270413 cites W2024907232 @default.
• W1970270413 cites W2027330463 @default.
• W1970270413 cites W2028080236 @default.
• W1970270413 cites W2030734666 @default.
• W1970270413 cites W2033342861 @default.
• W1970270413 cites W2038106718 @default.
• W1970270413 cites W2050583951 @default.
• W1970270413 cites W2056214769 @default.
• W1970270413 cites W2062140390 @default.
• W1970270413 cites W2071969990 @default.
• W1970270413 cites W2072392892 @default.
• W1970270413 cites W2082503303 @default.
• W1970270413 cites W2087821300 @default.
• W1970270413 cites W2090647665 @default.
• W1970270413 cites W2093214731 @default.
• W1970270413 cites W2105245235 @default.
• W1970270413 cites W2125983178 @default.
• W1970270413 cites W2137777569 @default.
• W1970270413 cites W2146948473 @default.
• W1970270413 cites W2148384844 @default.
• W1970270413 cites W2149422445 @default.
• W1970270413 cites W2151370476 @default.
• W1970270413 cites W2164771787 @default.
• W1970270413 cites W2229688954 @default.
• W1970270413 cites W2997696222 @default.
• W1970270413 doi "https://doi.org/10.1002/ajmg.a.31632" @default.
• W1970270413 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17330859" @default.
• W1970270413 hasPublicationYear "2007" @default.
• W1970270413 type Work @default.
• W1970270413 sameAs 1970270413 @default.
• W1970270413 citedByCount "76" @default.
• W1970270413 countsByYear W19702704132012 @default.
• W1970270413 countsByYear W19702704132013 @default.
• W1970270413 countsByYear W19702704132014 @default.
• W1970270413 countsByYear W19702704132015 @default.
• W1970270413 countsByYear W19702704132016 @default.
• W1970270413 countsByYear W19702704132017 @default.
• W1970270413 countsByYear W19702704132018 @default.
• W1970270413 countsByYear W19702704132019 @default.
• W1970270413 countsByYear W19702704132020 @default.
• W1970270413 countsByYear W19702704132021 @default.
• W1970270413 countsByYear W19702704132022 @default.
• W1970270413 countsByYear W19702704132023 @default.
• W1970270413 crossrefType "journal-article" @default.
• W1970270413 hasAuthorship W1970270413A5004704626 @default.
• W1970270413 hasAuthorship W1970270413A5005378944 @default.
• W1970270413 hasAuthorship W1970270413A5005789696 @default.
• W1970270413 hasAuthorship W1970270413A5006247268 @default.
• W1970270413 hasAuthorship W1970270413A5010629895 @default.
• W1970270413 hasAuthorship W1970270413A5011382435 @default.
• W1970270413 hasAuthorship W1970270413A5061084392 @default.
• W1970270413 hasAuthorship W1970270413A5089936608 @default.
• W1970270413 hasConcept C104317684 @default.
• W1970270413 hasConcept C138496976 @default.
• W1970270413 hasConcept C15744967 @default.
• W1970270413 hasConcept C169760540 @default.
• W1970270413 hasConcept C169900460 @default.
• W1970270413 hasConcept C205778803 @default.
• W1970270413 hasConcept C207259873 @default.
• W1970270413 hasConcept C2777102477 @default.
• W1970270413 hasConcept C2777395276 @default.
• W1970270413 hasConcept C2778538070 @default.
• W1970270413 hasConcept C2778594975 @default.
• W1970270413 hasConcept C54355233 @default.
• W1970270413 hasConcept C84597430 @default.
• W1970270413 hasConcept C86339819 @default.
• W1970270413 hasConcept C86803240 @default.
• W1970270413 hasConceptScore W1970270413C104317684 @default.
• W1970270413 hasConceptScore W1970270413C138496976 @default.
• W1970270413 hasConceptScore W1970270413C15744967 @default.
• W1970270413 hasConceptScore W1970270413C169760540 @default.
• W1970270413 hasConceptScore W1970270413C169900460 @default.
• W1970270413 hasConceptScore W1970270413C205778803 @default.

• next