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Quoted phrase not found in phrase index: "Intellectual developmental disorder with impaired language and dysmorphic facies"
Page 1
Expanding the clinical phenotype of patients with a ZDHHC9 mutation.
Masurel-Paulet A, Kalscheuer VM, Lebrun N, Hu H, Levy F, Thauvin-Robinet C, Darmency-Stamboul V, El Chehadeh S, Thevenon J, Chancenotte S, Ruffier-Bourdet M, Bonnet M, Pinoit JM, Huet F, Desportes V, Chelly J, Faivre L. Masurel-Paulet A, et al. Am J Med Genet A. 2014 Mar;164A(3):789-95. doi: 10.1002/ajmg.a.36348. Epub 2013 Dec 19. Am J Med Genet A. 2014. PMID: 24357419
In 2007, 250 families with X-linked intellectual disability (XLID) were screened for mutations in genes on the X-chromosome, and in 4 of these families, mutations in the ZDHHC9 gene were identified. ...Neuropsychological testing showed mild intellectual di …
In 2007, 250 families with X-linked intellectual disability (XLID) were screened for mutations in genes on the X-chromosome, a …
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 …
A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.
Dunn P, Prigatano GP, Szelinger S, Roth J, Siniard AL, Claasen AM, Richholt RF, De Both M, Corneveaux JJ, Moskowitz AM, Balak C, Piras IS, Russell M, Courtright AL, Belnap N, Rangasamy S, Ramsey K, Opitz JM, Craig DW, Narayanan V, Huentelman MJ, Schrauwen I. Dunn P, et al. Am J Med Genet A. 2017 Mar;173(3):611-617. doi: 10.1002/ajmg.a.38069. Epub 2017 Jan 31. Am J Med Genet A. 2017. PMID: 28139025
Mutations in CASK cause X-linked intellectual disability, microcephaly with pontine and cerebellar hypoplasia, optic atrophy, nystagmus, feeding difficulties, GI hypomotility, and seizures. ...From a cognitive and neuropsychological perspective, language skil …
Mutations in CASK cause X-linked intellectual disability, microcephaly with pontine and cerebellar hypoplasia, optic atrophy, …
Severity of hyperacusis predicts individual differences in speech perception in Williams Syndrome.
Elsabbagh M, Cohen H, Cohen M, Rosen S, Karmiloff-Smith A. Elsabbagh M, et al. J Intellect Disabil Res. 2011 Jun;55(6):563-71. doi: 10.1111/j.1365-2788.2011.01411.x. Epub 2011 Mar 15. J Intellect Disabil Res. 2011. PMID: 21557785
BACKGROUND: Williams Syndrome (WS) is a neurodevelopmental disorder of genetic origin, characterised by relative proficiency in language in the face of serious impairment in several other domains. ...CONCLUSIONS: These results suggest that alterations in sens …
BACKGROUND: Williams Syndrome (WS) is a neurodevelopmental disorder of genetic origin, characterised by relative proficiency in la …
Conversational success in Williams syndrome: communication in the face of cognitive and linguistic limitations.
Tarling K, Perkins MR, Stojanovik V. Tarling K, et al. Clin Linguist Phon. 2006 Sep-Oct;20(7-8):583-90. doi: 10.1080/02699200500266547. Clin Linguist Phon. 2006. PMID: 17056489
Williams syndrome (WS) is characterized by apparent relative strengths in language, facial processing and social cognition but by profound impairment in spatial cognition, planning and problem solving. ...This case study of Brendan, a 12-year-old boy with WS, who pr …
Williams syndrome (WS) is characterized by apparent relative strengths in language, facial processing and social cognition but by pro …