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Quoted phrase not found in phrase index: "Intellectual developmental disorder with impaired language and dysmorphic facies"
Page 1
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.
Zhang J, Gambin T, Yuan B, Szafranski P, Rosenfeld JA, Balwi MA, Alswaid A, Al-Gazali L, Shamsi AMA, Komara M, Ali BR, Roeder E, McAuley L, Roy DS, Manchester DK, Magoulas P, King LE, Hannig V, Bonneau D, Denommé-Pichon AS, Charif M, Besnard T, Bézieau S, Cogné B, Andrieux J, Zhu W, He W, Vetrini F, Ward PA, Cheung SW, Bi W, Eng CM, Lupski JR, Yang Y, Patel A, Lalani SR, Xia F, Stankiewicz P. Zhang J, et al. Hum Genet. 2017 Apr;136(4):377-386. doi: 10.1007/s00439-017-1763-1. Epub 2017 Mar 1. Hum Genet. 2017. PMID: 28251352 Free PMC article.
Impairment of ubiquitin-proteasome system activity involving ubiquitin ligase genes UBE3A, UBE3B, and HUWE1 and deubiquitinating enzyme genes USP7 and USP9X has been reported in patients with neurodevelopmental delays. ...Quantitative PCR analyses of the splicing mutation …
Impairment of ubiquitin-proteasome system activity involving ubiquitin ligase genes UBE3A, UBE3B, and HUWE1 and deubiquitinating enzy …
Differential effects of anxiety and autism on social scene scanning in males with fragile X syndrome.
Crawford H, Moss J, Oliver C, Riby D. Crawford H, et al. J Neurodev Disord. 2017 Sep 25;9(1):9. doi: 10.1186/s11689-017-9189-6. J Neurodev Disord. 2017. PMID: 28946865 Free PMC article. Review.
METHODS: We compared dwell times to the background, body, and face regions of naturalistic social scenes in 11 males with FXS (M (age) = 26.29) and 11 typically developing (TD) children who were matched on gender and receptive language ability (M (age) = 6.28). Usin …
METHODS: We compared dwell times to the background, body, and face regions of naturalistic social scenes in 11 males with FXS (M (age …
Exploring the cognitive phenotype of Kabuki (Niikawa-Kuroki) syndrome.
van Dongen LCM, Wingbermühle PAM, van der Veld WM, Stumpel C, Kleefstra T, Egger JIM. van Dongen LCM, et al. J Intellect Disabil Res. 2019 Jun;63(6):498-506. doi: 10.1111/jir.12597. Epub 2019 Feb 6. J Intellect Disabil Res. 2019. PMID: 30724417 Free PMC article.
BACKGROUND: Kabuki syndrome (KS) is a Mendelian disorder, characterised by short stature, facial dysmorphisms and developmental delay and/or intellectual disability. ...CONCLUSIONS: Individuals with KS suffer from specific weaknesses in visuocon …
BACKGROUND: Kabuki syndrome (KS) is a Mendelian disorder, characterised by short stature, facial dysmorphisms and developme …
Language and behavior in children with Sotos syndrome.
Finegan JK, Cole TR, Kingwell E, Smith ML, Smith M, Sitarenios G. Finegan JK, et al. J Am Acad Child Adolesc Psychiatry. 1994 Nov-Dec;33(9):1307-15. doi: 10.1097/00004583-199411000-00013. J Am Acad Child Adolesc Psychiatry. 1994. PMID: 7995798
OBJECTIVE: To examine language and behavior in children with Sotos syndrome, an overgrowth syndrome involving advanced bone age, characteristic facies, and developmental disability. METHOD: Twenty-seven children with Sotos syndrome were compared with 2 …
OBJECTIVE: To examine language and behavior in children with Sotos syndrome, an overgrowth syndrome involving advanced bone age, char …
Morphosyntactic abilities in young children with Down syndrome: Evidence from the Greek language.
Katsarou D, Andreou G. Katsarou D, et al. Int J Lang Commun Disord. 2022 Sep;57(5):937-947. doi: 10.1111/1460-6984.12730. Epub 2022 Jun 11. Int J Lang Commun Disord. 2022. PMID: 35689466
Down syndrome is the most common genetic syndrome of intellectual disabilities with a distinct linguistic profile. Language research so far has come mainly from the English language, a language with different syntax and morphology from many other la …
Down syndrome is the most common genetic syndrome of intellectual disabilities with a distinct linguistic profile. Language re …
Characterizing the musical phenotype in individuals with Williams Syndrome.
Levitin DJ, Cole K, Chiles M, Lai Z, Lincoln A, Bellugi U. Levitin DJ, et al. Child Neuropsychol. 2004 Dec;10(4):223-47. doi: 10.1080/09297040490909288. Child Neuropsychol. 2004. PMID: 15621847
Williams Syndrome (WS), a neurodevelopmental genetic disorder, is characterized by peaks and valleys in mental function: substantial impairments in cognitive domains such as reasoning, arithmetic ability, and spatial cognition, alongside relatively preserved skills …
Williams Syndrome (WS), a neurodevelopmental genetic disorder, is characterized by peaks and valleys in mental function: substantial …
Electrophysiological correlates of semantic processing in Williams syndrome.
Pinheiro AP, Galdo-Álvarez S, Sampaio A, Niznikiewicz M, Gonçalves OF. Pinheiro AP, et al. Res Dev Disabil. 2010 Nov-Dec;31(6):1412-25. doi: 10.1016/j.ridd.2010.06.017. Epub 2010 Jul 31. Res Dev Disabil. 2010. PMID: 20674263
However, in spite of early claims of the independence of language from general cognition in WS, a detailed investigation of language subcomponents has demonstrated several abnormalities in lexical-semantic processing. ...These results may represent a physiolo …
However, in spite of early claims of the independence of language from general cognition in WS, a detailed investigation of langua …
Object recognition with severe spatial deficits in Williams syndrome: sparing and breakdown.
Landau B, Hoffman JE, Kurz N. Landau B, et al. Cognition. 2006 Jul;100(3):483-510. doi: 10.1016/j.cognition.2005.06.005. Epub 2005 Sep 26. Cognition. 2006. PMID: 16185678
Williams syndrome (WS) is a rare genetic disorder that results in severe visual-spatial cognitive deficits coupled with relative sparing in language, face recognition, and certain aspects of motion processing. ...These findings are consistent with the growing …
Williams syndrome (WS) is a rare genetic disorder that results in severe visual-spatial cognitive deficits coupled with relative spar …
Developmental profile and trajectory of neuropsychological skills in a child with Kabuki syndrome: implications for assessment of syndromes associated with intellectual disability.
Sanz JH, Lipkin P, Rosenbaum K, Mahone EM. Sanz JH, et al. Clin Neuropsychol. 2010 Oct;24(7):1181-92. doi: 10.1080/13854046.2010.506198. Clin Neuropsychol. 2010. PMID: 20812142
Kabuki syndrome (KS) is a rare genetic syndrome involving dysmorphic facial features,and reports of intellectual disability (ID). We examined the developmental trajectory of neuropsychological skills in a child with KS (seen at ages 4, 6, 7, 9, and 11) …
Kabuki syndrome (KS) is a rare genetic syndrome involving dysmorphic facial features,and reports of intellectual disability …
Featural versus configural face processing in a rare genetic disorder: Williams syndrome.
Isaac L, Lincoln A. Isaac L, et al. J Intellect Disabil Res. 2011 Nov;55(11):1034-42. doi: 10.1111/j.1365-2788.2011.01426.x. Epub 2011 May 10. J Intellect Disabil Res. 2011. PMID: 21554469
BACKGROUND: Williams syndrome (WMS) is a rare genetic disorder with an estimated prevalence of 1 in 20 000 live births. Among other characteristics, WMS has a distinctive cognitive profile with spared face processing and language skills that contrasts with …
BACKGROUND: Williams syndrome (WMS) is a rare genetic disorder with an estimated prevalence of 1 in 20 000 live births. Among other c …
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