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Using case study comparisons to explore genotype-phenotype correlations in Williams syndrome
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Karmiloff-Smith A, Grant J, Ewing S, et al. Using case study comparisons to explore genotype-phenotype correlations in Williams syndrome. J Med Genet 2003; 40:136-140. This is a nicely written, accessible review of genotype-phenotype efforts conducted, to date, on Williams syndrome, and provides three new case-reports.
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Genome structure and cognitive map of Williams syndrome
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Bellugu U, St George M, editors. Cambridge, MA: MIT Press
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Korenberg JR, Chen X-N, Hirota H, et al. Genome structure and cognitive map of Williams syndrome. In: Bellugu U, St George M, editors. Journey from cognition to brain to gene: perspectives from Williams syndrome. Cambridge, MA: MIT Press; 2001. pp. 147-178.
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Williams syndrome: Use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes
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Tassabehji M, Metcalfe K, Karmiloff-Smith A, et al. Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes. Am J Hum Genet 1999; 64:118-125.
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Prevalence estimation of Williams syndrome
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Stromme P, Bjornstad PG, Ramstad K. Prevalence estimation of Williams syndrome. J Child Neurol 2002; 17:269-271. These authors used epidemiological and survey study approaches to refine prevalence estimates for Williams syndrome.
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Williams syndrome cognitive profile also characterizes Velocardiofacial/DiGeorge syndrome
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Beardon EC, Wang PP, Simon TJ. Williams syndrome cognitive profile also characterizes Velocardiofacial/DiGeorge syndrome [letter]. Am J Med Genet 2002; 114:689-692. This is a critically important letter to the editor summarizing data on shared profiles in Williams syndrome and 22q Deletion syndrome, and has implications for gene/brain/behavior research.
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Am J Med Genet
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Visuospatial cognition in Williams syndrome: Reviewing and accounting for the strengths and weaknesses in performance
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Farran EK, Jarrold C. Visuospatial cognition in Williams syndrome: reviewing and accounting for the strengths and weaknesses in performance. Dev Neuropsychol 2003; 23:173-200. This is an excellent, critical review of the vast amount of data on visual-spatial profiles in persons with Williams syndrome, and provides a reasonable explanation for inconsistencies across studies.
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Farran, E.K.1
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Face and place processing in Williams syndrome: Evidence for a dorsal-ventral dissociation
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Paul BM, Stiles J, Passarotti A, et al. Face and place processing in Williams syndrome: evidence for a dorsal-ventral dissociation. Neuroreport 2002; 13:1115-1119. This article provides additional data, from a large group of participants with Williams syndrome, regarding pronounced deficits in dorsal stream functioning.
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Paul, B.M.1
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Neurobiological models of visuospatial cognition in children with Williams syndrome: Measures of dorsal stream and frontal function
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Atkinson J, Braddick O, Anker S, et al. Neurobiological models of visuospatial cognition in children with Williams syndrome: measures of dorsal stream and frontal function. Dev Neuropsychol 2003; 23:139-172. This is an excellent series of studies that fine-tune our understanding of dorsal stream functioning in children with Williams syndrome.
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Dev Neuropsychol
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Atkinson, J.1
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Visual information process in Williams syndrome: Intact motion detection accompanied by typical visuospatial dysfunctions
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Nakamura M, Kaneoke Y, Watanabe K, Kakigi R. Visual information process in Williams syndrome: intact motion detection accompanied by typical visuospatial dysfunctions. Eur J Neurosci 2002; 16:1810-1818. This superbly conducted case-study teases apart various aspects of visual perception in Williams syndrome.
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Eur J Neurosci
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Nakamura, M.1
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Visual and spatial working memory dissociation: Evidence from Williams syndrome
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Vicari S, Bellucci S, Carlesimo GA. Visual and spatial working memory dissociation: evidence from Williams syndrome. Dev Med Child Neurol 2003; 45:269-273.
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The neurocognitive profiles of Williams syndrome: A complex pattern of strengths and weaknesses
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Bellugi U, St George M, editors. Cambridge, MA: MIT Press
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Bellugi U, Lichtenberger L, Jones W, et al. The neurocognitive profiles of Williams syndrome: a complex pattern of strengths and weaknesses. In: Bellugi U, St George M, editors. Journey from cognition to brain: perspectives from Williams syndrome. Cambridge, MA: MIT Press; 2001. pp. 1-42.
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Bellugi, U.1
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Williams syndrome: Findings from an integrated program of research
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Tager-Flusberg H, editor. Cambridge, MA: MIT Press
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Mervis CB, Morris CA, Bertrand J, Robinson BF. Williams syndrome: findings from an integrated program of research. In: Tager-Flusberg H, editor. Neurodevelopmental disorders. Cambridge, MA: MIT Press; 1999. pp. 65-110.
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Global spatial organization by individuals with Williams syndrome
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Panni JR, Mervis CB, Robinson BF. Global spatial organization by individuals with Williams syndrome. Psychol Sci 1999; 10:453-458.
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Drawings by individuals with Williams syndrome: Are people different from shapes?
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Dykens EM, Rosner BA, Ly T. Drawings by individuals with Williams syndrome: are people different from shapes? Am J Ment Retard 2001; 106:94-107.
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Neuroanatomy of Williams syndrome: A high-resolution MRI study
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Bellugi U, St George M, editors. Cambridge, MA: MIT Press
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Reiss AL, Eliez S, Schmitt JE, et al. Neuroanatomy of Williams syndrome: a high-resolution MRI study. In: Bellugi U, St George M, editors. Journey from cognition to brain to gene: perspectives from Williams syndrome. Cambridge, MA: MIT Press; 2001. pp. 105-122.
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Reiss, A.L.1
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Cerebellar abnormalities in infants and toddlers with Williams syndrome
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Jones W, Hesselink J, Courchesne E, et al. Cerebellar abnormalities in infants and toddlers with Williams syndrome. Dev Med Child Neurol 2002; 44:688-694. Using magnetic resonance imaging and 'blinded' neuroradiologists, this study identified abnormal cerebellar enlargement, even in very young children with Williams syndrome.
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Dev Med Child Neurol
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Jones, W.1
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Shifting attention and joint attention dissociation in Williams syndrome: Implications for the cerebellum and social deficits in autism
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Lincoln A, Lai Z, Jones W. Shifting attention and joint attention dissociation in Williams syndrome: implications for the cerebellum and social deficits in autism. Neurocase 2002; 8:226-232. Experimental tasks were administered to subjects with Williams syndrome and known cerebellar anomalies; problems with shifting attention were demonstrated in those with Williams syndrome.
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Neurocase
, vol.8
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Lincoln, A.1
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Cellular and molecular cortical neuroanatomy in Williams syndrome
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Bellugi U, St George M, editors. Cambridge, MA: MIT Press
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Galaburda AM, Bellugi U. Cellular and molecular cortical neuroanatomy in Williams syndrome. In: Bellugi U, St George M, editors. Journey from cognition to brain to gene: perspectives from Williams syndrome. Cambridge, MA: MIT Press; 2001. pp. 123-146.
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Galaburda, A.M.1
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Morphology and morphometry of the corpus callosum in Williams syndrome: A TI-weighted MRI study
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Tomaiuolo F, Paola MD, Caravale B, et al. Morphology and morphometry of the corpus callosum in Williams syndrome: a TI-weighted MRI study. Neuroreport 2002; 13:2281-2284. This is an important study that focused on anomalies in the corpus callosum in individuals with Williams syndrome and in control subjects.
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Neuroreport
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Tomaiuolo, F.1
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A study of relative clauses in Williams syndrome
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Grant J, Valian V, Karmiloff-Smith A. A study of relative clauses in Williams syndrome. J Child Lang 2002; 29:403-416.
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Morphological abilities of Hebrew-speaking adolescents with Williams syndrome
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Levy Y, Hermon S. Morphological abilities of Hebrew-speaking adolescents with Williams syndrome. Dev Neuropsychol 2003; 23:59-84. This fine-tuned study shows problems in certain aspects of grammar in Hebrew-speaking persons with Williams syndrome.
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Dev Neuropsychol
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Levy, Y.1
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Language acquisition in special populations: A comparison between Down and Williams syndromes
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Vicari S, Caselli MC, Gagliardi C, et al. Language acquisition in special populations: a comparison between Down and Williams syndromes. Neuropsychologia 2002; 40:2461-2470. This well-conducted study found little evidence of an impaired linguistic profile in young children with Williams syndrome, and questions the use of children with Down syndrome as comparison groups in previous studies.
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Neuropsychologia
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Vicari, S.1
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Early linguistic abilities of Italian children with Williams syndrome
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Voltera V, Caselli C, Capirci O, et al. Early linguistic abilities of Italian children with Williams syndrome. Dev Neuropsychol 2003; 23:33-58.
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Dev Neuropsychol
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Karmiloff-Smith A, Grant J, Berthoud I, et al. Language in Williams syndrome: how intact is intact? Child Dev 1997; 68:246-262.
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Expressive vocabulary ability of toddlers with Williams syndrome or Down syndrome: A comparison
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Mervis CB, Robinson BF. Expressive vocabulary ability of toddlers with Williams syndrome or Down syndrome: a comparison. Dev Neuropsychol 2000; 17:111-126.
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Nazzi T, Karmiloff-Smith A. Early categorization abilities in young children with Williams syndrome. Neuroreport 2002; 13:1259-1262.
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Robinson BF, Mervis CB, Robinson BW. The roles of verbal short-term memory and working memory in the acquisition of grammar by children with Williams syndrome. Dev Neuropsychol 2003; 23:13-32. This is an excellent study examining role of verbal short-term and working memory in grammatical development in a large sample of children with Williams syndrome and in control subjects.
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Dev Neuropsychol
, vol.23
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Robinson, B.F.1
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Objects, motions, and paths: Spatial language in children with Williams syndrome
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Landeau B, Zukowski A. Objects, motions, and paths: spatial language in children with Williams syndrome. Dev Neuropsychol 2003; 23:105-138. This presents a very well-conducted study on spatial language abilities in children with Williams syndrome and in control subjects.
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Dev Neuropsychol
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Landeau, B.1
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Can adolescents with Williams syndrome tell the difference between lies and jokes?
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Sullivan K, Winner E, Tager-Flusberg H. Can adolescents with Williams syndrome tell the difference between lies and jokes? Dev Neuropsychol 2003; 23:85-104. This innovative, well-conducted study has implications for social interactions and for the theory of social perception strengths versus social cognition weaknesses in Williams syndrome.
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Dev Neuropsychol
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Tager-Flusberg H, Sullivan K. A componential view of theory of mind: evidence from Williams syndrome. Cognition 2000; 76:59-89.
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Musical abilities in individuals with Williams syndrome
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Levitan DJ, Bellugi U. Musical abilities in individuals with Williams syndrome. Music Perception 1998; 15:357-398.
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Hopyan T, Dennis M, Weksberg R, Cytrynbaum C. Musical skills and the expressive interpretation of music in children with Williams-Beuren syndrome: pitch, rhythm, melodic imagery, phrasing, and musical affect. Child Neuropsychol 2001; 7:42-53.
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Levitan DJ, Menon V, Schmitt JE, et al. Neural correlates of auditory perception in Williams syndrome: an fMRI study. Neuroimage 2003; 18:74-82. This novel study demonstrates atypical processing of music and sound in subjects with Williams syndrome relative to control subjects. It provides a critical step towards an understanding of musicality in Williams syndrome.
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Neuroimage
, vol.18
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Levitan, D.J.1
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Dykens EM, Hodapp RM. Research in mental retardation: toward an etiologic approach. J Child Psychol Psychiatry 2001; 42:49-71.
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Einfeld SL, Tonge BJ, Rees VW. Longitudinal course of behavioral and emotional problems in Williams syndrome. Am J Ment Retard 2001; 106:73-81.
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Dykens EM, Rosner BA. Refining behavioral phenotypes: personality-motivation in Williams and Prader-Willi syndromes. Am J Ment Retard 1999; 104:158-169.
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Anxiety, fears, and phobias in persons with Williams syndrome
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Dykens EM. Anxiety, fears, and phobias in persons with Williams syndrome. Dev Neuropsychol 2003; 23:291-316. This comprehensive, three-part study examines anxiety and fears in large cohorts of persons with Williams syndrome; it was the first to provide in-depth data on anxiety.
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Dev Neuropsychol
, vol.23
, pp. 291-316
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Davies M, Howlin P, Udwin O. Independence and adaptive behavior in adults with Williams syndrome. Am J Med Genet 1997; 70:188-195.
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Giordano U, Turchetta A, Giannotti A, et al. Exercise testing and 24-hour ambulatory blood pressure monitoring in children with Williams syndrome. Pediatr Cardiol 2001; 22:509-511.
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