williams syndrome

Summary

Summary: A contiguous gene syndrome associated with a heterozygous microdeletion in the chromosomal region 7q11.23, encompassing the ELASTIN gene. Clinical manifestations include supravalvular aortic stenosis (AORTIC STENOSIS, SUPRAVALVULAR), MENTAL RETARDATION, elfin facies, impaired visuospatial constructive abilities, and transient hypercalcemia in infancy. The condition affects both sexes, with onset at birth or in early infancy.

Top Publications

  1. pmc Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism
    Stephan J Sanders
    Program on Neurogenetics, Yale University School of Medicine, 230 South Frontage Road, New Haven, CT 06520, USA
    Neuron 70:863-85. 2011
  2. ncbi Attentional characteristics of infants and toddlers with Williams syndrome during triadic interactions
    Carolyn B Mervis
    Department of Psychological and Brain Sciences, University of Louisville, KY 40292, USA
    Dev Neuropsychol 23:243-68. 2003
  3. ncbi Stuck on you: face-to-face arousal and gaze aversion in Williams syndrome
    Gwyneth Doherty-Sneddon
    Department of Psychology, University of Stirling, Stirling FK9 4LA, UK
    Cogn Neuropsychiatry 14:510-23. 2009
  4. ncbi Looking at movies and cartoons: eye-tracking evidence from Williams syndrome and autism
    D Riby
    School of Psychology, Newcastle University, Newcastle upon Tyne NE17RU, UK
    J Intellect Disabil Res 53:169-81. 2009
  5. pmc Mutational mechanisms of Williams-Beuren syndrome deletions
    Mònica Bayés
    Unitat de Genètica, Departament Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Doctor Aiguader 80, 08003 Barcelona, Spain
    Am J Hum Genet 73:131-51. 2003
  6. ncbi Attention to faces in Williams syndrome
    Deborah M Riby
    School of Psychology, Newcastle University, Ridley Building 1, Framlington Place, Newcastle upon Tyne NE1 7RU, UK
    J Autism Dev Disord 41:1228-39. 2011
  7. ncbi Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behaviour
    Andreas Meyer-Lindenberg
    Unit for Systems Neuroscience in Psychiatry, National Institute of Mental Health, NIH, DHHS, 9000 Rockville Pike, Bethesda, Maryland 20892 1365, USA
    Nat Rev Neurosci 7:380-93. 2006
  8. pmc Overlap with the autism spectrum in young children with Williams syndrome
    Bonita P Klein-Tasman
    Department of Psychology, University of Wisconsin Milwaukee, Milwaukee, WI 53201, USA
    J Dev Behav Pediatr 30:289-99. 2009
  9. ncbi Socio-communicative deficits in young children with Williams syndrome: performance on the Autism Diagnostic Observation Schedule
    Bonita P Klein-Tasman
    Department of Psychology, University of Wisconsin Milwaukee, WI 53201, USA
    Child Neuropsychol 13:444-67. 2007
  10. pmc Unusual cognitive and behavioural profile in a Williams syndrome patient with atypical 7q11.23 deletion
    C Gagliardi
    J Med Genet 40:526-30. 2003

Detail Information

Publications321 found, 100 shown here

  1. pmc Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism
    Stephan J Sanders
    Program on Neurogenetics, Yale University School of Medicine, 230 South Frontage Road, New Haven, CT 06520, USA
    Neuron 70:863-85. 2011
    ..4 × 10(-7)). We estimate there are 130-234 ASD-related CNV regions in the human genome and present compelling evidence, based on cumulative data, for association of rare de novo events at 7q11.23, 15q11.2-13.1, 16p11.2, and Neurexin 1...
  2. ncbi Attentional characteristics of infants and toddlers with Williams syndrome during triadic interactions
    Carolyn B Mervis
    Department of Psychological and Brain Sciences, University of Louisville, KY 40292, USA
    Dev Neuropsychol 23:243-68. 2003
    Two studies were conducted to consider the looking behavior of infants and toddlers with Williams syndrome (WS)...
  3. ncbi Stuck on you: face-to-face arousal and gaze aversion in Williams syndrome
    Gwyneth Doherty-Sneddon
    Department of Psychology, University of Stirling, Stirling FK9 4LA, UK
    Cogn Neuropsychiatry 14:510-23. 2009
    ..We investigate whether individuals with Williams syndrome (WS), associated with hypersociability and atypical face gaze, use GA to manage cognitive load and whether ..
  4. ncbi Looking at movies and cartoons: eye-tracking evidence from Williams syndrome and autism
    D Riby
    School of Psychology, Newcastle University, Newcastle upon Tyne NE17RU, UK
    J Intellect Disabil Res 53:169-81. 2009
    Autism and Williams syndrome (WS) are neuro-developmental disorders associated with distinct social phenotypes...
  5. pmc Mutational mechanisms of Williams-Beuren syndrome deletions
    Mònica Bayés
    Unitat de Genètica, Departament Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Doctor Aiguader 80, 08003 Barcelona, Spain
    Am J Hum Genet 73:131-51. 2003
    ..Chromosomal instability at 7q11.23 is directly related to the genomic structure of the region...
  6. ncbi Attention to faces in Williams syndrome
    Deborah M Riby
    School of Psychology, Newcastle University, Ridley Building 1, Framlington Place, Newcastle upon Tyne NE1 7RU, UK
    J Autism Dev Disord 41:1228-39. 2011
    b>Williams syndrome (WS) is associated with distinct social behaviours. One component of the WS social phenotype is atypically prolonged face fixation. This behaviour co-exists with attention difficulties...
  7. ncbi Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behaviour
    Andreas Meyer-Lindenberg
    Unit for Systems Neuroscience in Psychiatry, National Institute of Mental Health, NIH, DHHS, 9000 Rockville Pike, Bethesda, Maryland 20892 1365, USA
    Nat Rev Neurosci 7:380-93. 2006
    b>Williams syndrome, a rare disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11...
  8. pmc Overlap with the autism spectrum in young children with Williams syndrome
    Bonita P Klein-Tasman
    Department of Psychology, University of Wisconsin Milwaukee, Milwaukee, WI 53201, USA
    J Dev Behav Pediatr 30:289-99. 2009
    The sociocommunicative abnormalities of young children with Williams syndrome (WS) with limited language were compared with those of children with clinical diagnoses of autism, Pervasive Developmental Disorder-Not Otherwise Specified (..
  9. ncbi Socio-communicative deficits in young children with Williams syndrome: performance on the Autism Diagnostic Observation Schedule
    Bonita P Klein-Tasman
    Department of Psychology, University of Wisconsin Milwaukee, WI 53201, USA
    Child Neuropsychol 13:444-67. 2007
    In this investigation, the socio-communicative skills of 29 children with Williams syndrome aged 2 (1/2) to 5 (1/2) years were examined using the Autism Diagnostic Observation Schedule (ADOS) Module 1...
  10. pmc Unusual cognitive and behavioural profile in a Williams syndrome patient with atypical 7q11.23 deletion
    C Gagliardi
    J Med Genet 40:526-30. 2003
  11. ncbi The Williams syndrome transcription factor interacts with PCNA to target chromatin remodelling by ISWI to replication foci
    Raymond A Poot
    Marie Curie Research Institute, The Chart, Oxted, Surrey RH8 0TL, UK
    Nat Cell Biol 6:1236-44. 2004
    ..Here we provide evidence that the Williams syndrome transcription factor (WSTF) is targeted to replication foci through direct interaction with the DNA clamp ..
  12. ncbi Neural correlates of genetically abnormal social cognition in Williams syndrome
    Andreas Meyer-Lindenberg
    Section on Integrative Neuroimaging, National Institute of Mental Health, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland 20892, USA
    Nat Neurosci 8:991-3. 2005
    ..Activation and interactions of prefrontal regions linked to amygdala, especially orbitofrontal cortex, were abnormal, suggesting a genetically controlled neural circuitry for regulating human social behavior...
  13. ncbi Prevalence estimation of Williams syndrome
    Petter Strømme
    Department of Paediatrics, Rikshospitalet, The National Hospital, Oslo, Norway
    J Child Neurol 17:269-71. 2002
    There are limited population-based data on the occurrence of Williams syndrome. We estimated its prevalence combining data from two investigations...
  14. pmc Cognitive and behavioral characteristics of children with Williams syndrome: implications for intervention approaches
    Carolyn B Mervis
    Department of Psychological and Brain Sciences, 317 Life Sciences Building, University of Louisville, Louisville, KY 40292, USA
    Am J Med Genet C Semin Med Genet 154:229-48. 2010
    Portrayals of individuals with Williams syndrome (WS), a genetic disorder caused by a microdeletion of approximately 25 genes on chromosome 7q11.23, have reached the general public through a variety of media formats...
  15. ncbi A componential view of theory of mind: evidence from Williams syndrome
    H Tager-Flusberg
    University of Massachusetts, MA, Boston, USA
    Cognition 76:59-90. 2000
    ..Evidence for this proposal is presented from various sources, including studies of children with Williams syndrome, a rare genetic neurodevelopmental disorder...
  16. ncbi Social approach in pre-school children with Williams syndrome: the role of the face
    H F Dodd
    Macquarie Centre for Cognitive Science, Macquarie University, Marsfield, NSW, Australia
    J Intellect Disabil Res 54:194-203. 2010
    Indiscriminate social approach behaviour is a salient aspect of the Williams syndrome (WS) behavioural phenotype...
  17. ncbi Social interaction behaviors discriminate young children with autism and Williams syndrome
    Alan J Lincoln
    Alliant International University, 6160 Cornerstone Court E, San Diego, CA 92121, USA
    J Am Acad Child Adolesc Psychiatry 46:323-31. 2007
    Autistic disorder (AD) and Williams syndrome (WS) are neurodevelopmental disorders characterized by contrasting abnormal social behavior (the former, socially avoidant; the latter, outwardly social); nonetheless, there are individuals ..
  18. ncbi Frontostriatal dysfunction during response inhibition in Williams syndrome
    Dean Mobbs
    Center for Interdisciplinary Brain Sciences Research, Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, California 94305 5719, USA
    Biol Psychiatry 62:256-61. 2007
    b>Williams syndrome (WS) has provided researchers with an exciting opportunity to understand the complex interplay among genes, neurobiological and cognitive functions...
  19. ncbi Is everybody always my friend? Perception of approachability in Williams syndrome
    Elisa Frigerio
    Neurorehabilitation Unit, IRCCS E Medea, Bosisio Parini LC, Italy Institut of Psychology, School of Medicine, Milano, Italy
    Neuropsychologia 44:254-9. 2006
    Individuals with Williams syndrome (WS) are well known for their friendly behaviour and tendency to approach strangers indiscriminately as if everybody were their friend...
  20. ncbi The Williams syndrome cognitive profile
    C B Mervis
    University of Louisville, Louisville, KY 40292, USA
    Brain Cogn 44:604-28. 2000
    b>Williams syndrome is a rare neurodevelopmental disorder caused by a hemizygous deletion of approximately 1.5 megabases on chromosome 7q11.23...
  21. ncbi "Everybody in the world is my friend" hypersociability in young children with Williams syndrome
    Teresa F Doyle
    Laboratory for Cognitive Neuroscience, The Salk Institute for Biological Studies, La Jolla, California 92037, USA
    Am J Med Genet A 124:263-73. 2004
    b>Williams syndrome (WS) is a rare genetic disorder involving a characteristic cardiac defect, typical facial appearance, and an uneven profile of cognitive strengths and weaknesses...
  22. ncbi Distinctive personality characteristics of 8-, 9-, and 10-year-olds with Williams syndrome
    Bonita P Klein-Tasman
    Department of Psychology, University of Wisconsin Milwaukee, 53201, USA
    Dev Neuropsychol 23:269-90. 2003
    Although previous research and clinical observation have indicated that individuals with Williams syndrome have a distinctive personality, an empirically derived personality profile has not been developed...
  23. ncbi Viewing it differently: social scene perception in Williams syndrome and autism
    Deborah M Riby
    School of Psychology, Newcastle University, United Kingdom
    Neuropsychologia 46:2855-60. 2008
    The genetic disorder Williams syndrome (WS) is associated with a propulsion towards social stimuli and interactions with people...
  24. ncbi More is not always better: increased fractional anisotropy of superior longitudinal fasciculus associated with poor visuospatial abilities in Williams syndrome
    Fumiko Hoeft
    Center for Interdisciplinary Brain Sciences Research, Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Palo Alto, California 94305 5795, USA
    J Neurosci 27:11960-5. 2007
    ..tensor imaging to examine white matter integrity in the dorsal and ventral streams among individuals with Williams syndrome (WS) compared with two control groups (typically developing and developmentally delayed) and using three ..
  25. pmc Autonomic responses to dynamic displays of facial expressions in adolescents and adults with Williams syndrome
    D PLESA SKWERER
    Department of Anatomy and Neurobiology, Boston University School of Medicine, Boston, MA 02118 2526, USA
    Soc Cogn Affect Neurosci 4:93-100. 2009
    The behavioral phenotype characteristic of Williams syndrome (WS) is marked by strong interest in social interaction, manifested in attention to human faces, empathy, approach behavior and social disinhibition, often coexisting with ..
  26. ncbi Do faces capture the attention of individuals with Williams syndrome or autism? Evidence from tracking eye movements
    Deborah M Riby
    School of Psychology, Newcastle University, Ridley Building 1, Framlington Place, Newcastle upon Tyne, NE1 7RU, UK
    J Autism Dev Disord 39:421-31. 2009
    The neuro-developmental disorders of Williams syndrome (WS) and autism can reveal key components of social cognition. Eye-tracking techniques were applied in two tasks exploring attention to pictures containing faces...
  27. ncbi The neuropsychological basis of hypersociability in Williams and Down syndrome
    Melanie A Porter
    Macquarie Centre for Cognitive Science, Macquarie University, NSW 2109, Australia
    Neuropsychologia 45:2839-49. 2007
    People with Williams syndrome (WS) display indiscriminate approach toward strangers in everyday life. People with Down syndrome (DS) can also do so, but to a lesser degree...
  28. ncbi Characterizing the musical phenotype in individuals with Williams Syndrome
    Daniel J Levitin
    Department of Psychology and Faculty of Music, McGill University, Montreal, Que, Canada
    Child Neuropsychol 10:223-47. 2004
    b>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 ..
  29. pmc Is it Williams syndrome? GTF2IRD1 implicated in visual-spatial construction and GTF2I in sociability revealed by high resolution arrays
    L Dai
    The Center for Integrated Neuroscience and Human Behavior, The Brain Institute, University of Utah, Salt Lake City, Utah 84108, USA
    Am J Med Genet A 149:302-14. 2009
    Genetic contributions to human cognition and behavior are clear but difficult to define. Williams syndrome (WS) provides a unique model for relating single genes to visual-spatial cognition and social behavior...
  30. pmc The Williams syndrome chromosome 7q11.23 hemideletion confers hypersocial, anxious personality coupled with altered insula structure and function
    Mbemba Jabbi
    Section on Integrative Neuroimaging, National Institute of Mental Health, Intramural Research Program, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 109:E860-6. 2012
    ..b>Williams syndrome (WS), a rare disorder caused by a hemizygous deletion on chromosome 7q11...
  31. ncbi Preliminary evidence of abnormal white matter related to the fusiform gyrus in Williams syndrome: a diffusion tensor imaging tractography study
    B W Haas
    Department of Psychiatry and Behavioral Sciences, Center for Interdisciplinary Brain Sciences Research, Stanford University School of Medicine, Palo Alto, CA, USA
    Genes Brain Behav 11:62-8. 2012
    b>Williams syndrome (WS) is a genetic condition caused by a hemizygous microdeletion on chromosome 7q11.23...
  32. ncbi Visual and spatial long-term memory: differential pattern of impairments in Williams and Down syndromes
    Stefano Vicari
    Neurological and Rehabilitative Unit, IRCCS, Bambino Gesu Children s Hospital, Lungomare Guglielmo Marconi 36, 1 00058 Santa Marinella, Roma, Italy
    Dev Med Child Neurol 47:305-11. 2005
    ..was to investigate visual-object and visual-spatial long-term memory (LTM) abilities in individuals with Williams syndrome (WS) and Down syndrome (DS)...
  33. ncbi Emotional responsivity in young children with Williams syndrome
    Debbie J Fidler
    Colorado State University, Fort Collins, CO 80523 1570, USA
    Am J Ment Retard 112:194-206. 2007
    The hypothesis that young children with Williams syndrome show higher rates of emotional responsivity relative to other children with developmental disabilities was explored...
  34. ncbi GTF2IRD1 in craniofacial development of humans and mice
    May Tassabehji
    Academic Unit of Medical Genetics, University of Manchester, St Mary s Hospital, Manchester M13 9PL, UK
    Science 310:1184-7. 2005
    ..We propose a mechanism of cumulative dosage effects of duplicated and diverged genes applicable to other human chromosomal disorders...
  35. ncbi Abnormal cortical complexity and thickness profiles mapped in Williams syndrome
    Paul M Thompson
    Laboratory of Neuroimaging, Brain Mapping Division, Department of Neurology, University of California Los Angeles School of Medicine, Los Angeles, California 90095 1769, USA
    J Neurosci 25:4146-58. 2005
    We identified and mapped an anatomically localized failure of cortical maturation in Williams syndrome (WS), a genetic condition associated with deletion of approximately 20 contiguous genes on chromosome 7...
  36. ncbi The behavioral phenotype of Williams syndrome: A recognizable pattern of neurodevelopment
    Colleen A Morris
    Genetics Division of the Department of Pediatrics at the University of Nevada School of Medicine, USA
    Am J Med Genet C Semin Med Genet 154:427-31. 2010
    b>Williams syndrome (WS), caused by hemizygous deletion of 1.55-1.8 Mb of chromosome 7q11.23, has a recognizable behavior phenotype that is an important diagnostic sign...
  37. ncbi Pragmatic language profiles of school-age children with autism spectrum disorders and Williams syndrome
    Amy Philofsky
    Colorado State University, Fort Collins, USA
    Am J Speech Lang Pathol 16:368-80. 2007
    ..and compare the pragmatic language profiles of school-age children with autism spectrum disorders (ASD) and Williams syndrome (WS) on a standardized measure to determine whether a standard pragmatics tool can differentiate between 2 ..
  38. pmc Morphometry of human insular cortex and insular volume reduction in Williams syndrome
    Jeremy D Cohen
    Neuroscience Program, Tulane University, New Orleans, LA, United States
    J Psychiatr Res 44:81-9. 2010
    ..human insular cortex, and to validate that method by examining the anatomy of insular cortex in adults with Williams syndrome (WS) and healthy age-matched controls...
  39. ncbi Can adolescents with Williams syndrome tell the difference between lies and jokes?
    Kate Sullivan
    Eunice Kennedy Shriver Center, University of Massachusetts Medical Center, Boston, USA
    Dev Neuropsychol 23:85-103. 2003
    A group of adolescents with Williams syndrome (WS) was compared to matched groups of adolescents with Prader-Willi syndrome and nonspecific mental retardation on a task that tested the ability to distinguish different forms of nonliteral ..
  40. ncbi Just another face in the crowd: evidence for decreased detection of angry faces in children with Williams syndrome
    Andreia Santos
    Mediterranean Institute of Cognitive Neuroscience CNRS, 31, Chemin Joseph Aiguier, 13402 Marseille Cedex 20, France
    Neuropsychologia 48:1071-8. 2010
    ..has been found in typical and atypical development, it is unknown whether it exists in individuals with Williams syndrome (WS), who show reduced social fear and atypical sociability...
  41. pmc Honing in on the social phenotype in Williams syndrome using multiple measures and multiple raters
    Bonita P Klein-Tasman
    Department of Psychology, University of Wisconsin Milwaukee, P O Box 413, Milwaukee, WI 53201, USA
    J Autism Dev Disord 41:341-51. 2011
    The behavioral phenotype of Williams syndrome (WS) is characterized by difficulties with establishment and maintenance of friendships despite high levels of interest in social interaction...
  42. pmc Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome
    A Karmiloff-Smith
    J Med Genet 40:136-40. 2003
  43. pmc Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase
    Lucia Micale
    Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy
    Eur J Hum Genet 16:1038-49. 2008
    ....
  44. pmc Animal models of Williams syndrome
    Lucy R Osborne
    Department of Medicine and Molecular Genetics, University of Toronto, 7360 Medical Sciences Building, 1 King s College Circle, Toronto, ON, Canada
    Am J Med Genet C Semin Med Genet 154:209-19. 2010
    ..in an attempt to dissect the contribution of individual genes to the complex phenotype associated with Williams syndrome (WS)...
  45. ncbi Neurobiological models of visuospatial cognition in children with Williams syndrome: measures of dorsal-stream and frontal function
    Janette Atkinson
    Visual Development Unit, Department of Psychology, University College London, England
    Dev Neuropsychol 23:139-72. 2003
    We examine hypotheses for the neural basis of the profile of visual cognition in young children with Williams syndrome (WS). These are:(a)that it is a consequence of anomalies in sensory visual processing,(b)that it is a de...
  46. ncbi GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region
    Colleen A Morris
    Department of Pediatrics, Division of Genetics, University of Nevada School of Medicine, Las Vegas, Nevada 89102, USA
    Am J Med Genet A 123:45-59. 2003
    Most individuals with Williams syndrome (WS) have a 1.6 Mb deletion in chromosome 7q11.23 that encompasses the elastin (ELN) gene, while most families with autosomal dominant supravalvar aortic stenosis (SVAS) have point mutations in ELN...
  47. ncbi Williams syndrome: cognition, personality, and adaptive behavior
    C B Mervis
    Department of Psychological and Brain Sciences, University of Louisville, Louisville, Kentucky 40292, USA
    Ment Retard Dev Disabil Res Rev 6:148-58. 2000
    b>Williams syndrome is caused by a microdeletion of at least 16 genes on chromosome 7q11.23. The syndrome results in mild to moderate mental retardation or learning disability...
  48. ncbi I see happy people: Attention bias towards happy but not angry facial expressions in Williams syndrome
    Helen F Dodd
    Macquarie Centre for Cognitive Science, Macquarie University, Sydney, NSW, Australia
    Cogn Neuropsychiatry 15:549-67. 2010
    Observations of behaviour and research using eyetracking technology have shown that individuals with Williams syndrome (WS) pay an unusual amount of attention to other people's faces...
  49. ncbi Symmetry of cortical folding abnormalities in Williams syndrome revealed by surface-based analyses
    David C Van Essen
    Department of Anatomy and Neurobiology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    J Neurosci 26:5470-83. 2006
    We analyzed folding abnormalities in the cerebral cortex of subjects with Williams syndrome (WS), a genetically based developmental disorder, using surface-based analyses applied to structural magnetic resonance imaging data...
  50. ncbi Facial expression recognition in Williams syndrome
    Chiara Gagliardi
    Neurorehabilitation Unit, IRCCS E Medea, LC, Bosisio Parini, Italy
    Neuropsychologia 41:733-8. 2003
    Individuals with Williams syndrome (WS) excel in face recognition and show both a remarkable concern for social stimuli and a linguistic capacity for, in particular, emotionally referenced language...
  51. ncbi Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome
    Nathalie Van der Aa
    Department of Medical Genetics, University of Antwerp and Antwerp University Hospital, Universiteitsplein 1, 2610 Antwerp, Belgium
    Eur J Med Genet 52:94-100. 2009
    ..Our patient collection demonstrates that the 7q11.23 microduplication not only causes language delay, but is also associated with congenital anomalies and a recognizable face...
  52. ncbi Neural correlates of auditory perception in Williams syndrome: an fMRI study
    Daniel J Levitin
    Department of Psychology, McGill University, Montreal, Quebec, Canada
    Neuroimage 18:74-82. 2003
    b>Williams syndrome (WS), a neurogenetic developmental disorder, is characterized by a rare fractionation of higher cortical functioning: selective preservation of certain complex faculties (language, music, face processing, and ..
  53. pmc Defining the social phenotype in Williams syndrome: a model for linking gene, the brain, and behavior
    Anna Järvinen-Pasley
    Salk Institute for Biological Studies, La Jolla, CA 92037 1099, USA
    Dev Psychopathol 20:1-35. 2008
    ..Etiologically relatively homogeneous disorders, such as Williams syndrome (WS), provide unique opportunities for elucidating gene-brain-behavior relationships...
  54. pmc A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23
    R Peoples
    Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA
    Am J Hum Genet 66:47-68. 2000
    ..A model is presented for a mechanism of WBS-deletion formation, based on the orientation of duplicons' components relative to each other and to the ancestral elements within the deletion region...
  55. ncbi Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23
    Hamao Hirota
    Department of Pediatric Cardiology, Tokyo Women s Medical University, Tokyo, Japan
    Genet Med 5:311-21. 2003
    To identify the relationship between specific genes and phenotypic features of Williams syndrome.
  56. ncbi Executive functions in individuals with Williams syndrome
    D Menghini
    Children s Hospital Bambino Gesu, Rome, Italy
    J Intellect Disabil Res 54:418-32. 2010
    The present study was aimed at investigating working memory (WM) and executive functions capacities in individuals with Williams syndrome (WS) as compared with mental-age matched typically developing (TD) children.
  57. ncbi The relationship between age and IQ in adults with Williams syndrome
    Yvonne M Searcy
    The Salk Institute for Biological Studies, Laboratory for Cognitive Neuroscience, La Jolla, CA 92037, USA
    Am J Ment Retard 109:231-6. 2004
    The relationship between age and IQ was evaluated in a cross-sectional sample of 80 individuals with Williams syndrome (17 to 52 years)...
  58. ncbi The social phenotype of Williams syndrome
    Anna Järvinen
    Laboratory for Cognitive Neuroscience, The Salk Institute for Biological Studies, La Jolla, CA, USA
    Curr Opin Neurobiol 23:414-22. 2013
    b>Williams syndrome (WS) offers an exciting model for social neuroscience because its genetic basis is well-defined, and the unique phenotype reflects dimensions of prosocial behaviors...
  59. pmc Oxytocin and vasopressin are dysregulated in Williams Syndrome, a genetic disorder affecting social behavior
    Li Dai
    Center for Integrated Neuroscience and Human Behavior, and Department of Pediatrics, University of Utah, Salt Lake City, Utah, United States of America
    PLoS ONE 7:e38513. 2012
    ..b>Williams Syndrome (WS), a condition caused by deletion of ~28 genes, is associated with a gregarious personality, strong drive ..
  60. ncbi Genetically dissociated components of working memory: evidence from Down's and Williams syndrome
    C Jarrold
    Centre for the Study of Memory and Learning, Department of Experimental Psychology, University of Bristol, UK
    Neuropsychologia 37:637-51. 1999
    Wang and Bellugi [J clin exp Neuropsychol 1994;16:317 22] have suggested that Down's and Williams syndrome might be associated with specific and contrasting working memory deficits; with impaired verbal short-term memory in Down's ..
  61. pmc Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers
    Roberta Lelis Dutra
    Instituto da Criança, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, Brazil
    Clinics (Sao Paulo) 66:959-64. 2011
    ..Although fluorescence in situ hybridization is widely used for diagnostic confirmation, microsatellite DNA markers are considered highly informative and easily manageable...
  62. ncbi A novel human gene, WSTF, is deleted in Williams syndrome
    X Lu
    Department of Human Genetics, University of Utah, Salt Lake City, Utah, 84112, USA
    Genomics 54:241-9. 1998
    b>Williams syndrome (WS) is a developmental disorder caused by deletion of multiple genes at chromosome 7q11.23. Here, we report the identification and characterization of a novel gene, WSTF, that maps to the common WS deletion region...
  63. pmc Insights into brain development from neurogenetic syndromes: evidence from fragile X syndrome, Williams syndrome, Turner syndrome and velocardiofacial syndrome
    E Walter
    Center for Interdisciplinary Brain Sciences Research, Stanford University, Stanford, CA 94305, USA
    Neuroscience 164:257-71. 2009
    ..We suggest avenues for future exploration, with the goal of achieving a deeper understanding of the neural abnormalities in these affected populations...
  64. ncbi Recognition of emotional and nonemotional facial expressions: a comparison between Williams syndrome and autism
    Agnès Lacroix
    Centre de Recherches en Psychologie, Cognition et Communication EA 1285, Université de Rennes 2, France
    Res Dev Disabil 30:976-85. 2009
    The aim of our study was to compare two neurodevelopmental disorders (Williams syndrome and autism) in terms of the ability to recognize emotional and nonemotional facial expressions...
  65. ncbi LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition
    J M Frangiskakis
    Department of Human Genetics, University of Utah Health Sciences Center, Salt Lake City 84112, USA
    Cell 86:59-69. 1996
    To identify genes important for human cognitive development, we studied Williams syndrome (WS), a developmental disorder that includes poor visuospatial constructive cognition...
  66. pmc The fusiform face area is enlarged in Williams syndrome
    Golijeh Golarai
    Department of Psychology, Stanford University, Stanford, California 94305, USA
    J Neurosci 30:6700-12. 2010
    b>Williams syndrome (WS) is a genetic condition characterized by atypical brain structure, cognitive deficits, and a life-long fascination with faces...
  67. ncbi Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social interactions
    Takeshi Sakurai
    Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York, New York, USA
    Autism Res 4:28-39. 2011
    ..These data indicate that Gtf2i is involved in several aspects of embryonic development and the development of social neurocircuitry and that GTF2I haploinsufficiency could be a contributor to the hypersociability in WBS patients...
  68. ncbi Visual and spatial working memory dissociation: evidence from Williams syndrome
    Stefano Vicari
    Servizio di Neurologia e Riabilitazione, IRCCS, Ospedale Pediatrico Bambino Gesu, Santa Marinella, Rome, Italy
    Dev Med Child Neurol 45:269-73. 2003
    ..the second experiment, we presented the same visual and spatial WM tests to a group of 13 individuals with Williams syndrome (WS), seven males and six females (chronological age mean 18 years 3 months, SD 5...
  69. pmc Object recognition in Williams syndrome: uneven ventral stream activation
    Kirsten O'Hearn
    Department of Psychiatry, University of Pittsburgh, USA
    Dev Sci 14:549-65. 2011
    b>Williams syndrome (WS) is a genetic disorder associated with severe visuospatial deficits, relatively strong language skills, heightened social interest, and increased attention to faces...
  70. ncbi Abnormal spine morphology and enhanced LTP in LIMK-1 knockout mice
    Yanghong Meng
    Program in Brain and Behavior, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8
    Neuron 35:121-33. 2002
    ..In addition, abnormal expression of LIMK-1 is associated with Williams syndrome, a mental disorder with profound deficits in visuospatial cognition...
  71. pmc An experiment of nature: brain anatomy parallels cognition and behavior in Williams syndrome
    Allan L Reiss
    Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, California 94305, USA
    J Neurosci 24:5009-15. 2004
    b>Williams syndrome (WS) is a neurogenetic-neurodevelopmental disorder characterized by a highly variable and enigmatic profile of cognitive and behavioral features...
  72. ncbi Tracing syndrome-specific trajectories of attention across the lifespan
    Kim Cornish
    Neuroscience Laboratory for Research and Education in Children with Developmental Disorders, McGill University, Montreal, Canada
    Cortex 43:672-85. 2007
    ..aspects of attention in three developmental disorders: Fragile X syndrome (FXS), Down syndrome (DS) and Williams syndrome (WS)...
  73. ncbi Featural versus configural face processing in a rare genetic disorder: Williams syndrome
    L Isaac
    Department of Clinical Psychology, California School of Professional Psychology of Alliant International University, San Diego, California 92131, USA
    J Intellect Disabil Res 55:1034-42. 2011
    b>Williams syndrome (WMS) is a rare genetic disorder with an estimated prevalence of 1 in 20 000 live births...
  74. ncbi Comparing two diagnostic laboratory tests for Williams syndrome: fluorescent in situ hybridization versus multiplex ligation-dependent probe amplification
    Johanna M van Hagen
    Department of Clinical Genetics, VU University Medical Center, 1007 MB Amsterdam, The Netherlands
    Genet Test 11:321-7. 2007
    Most people with Williams syndrome (WS) have a heterozygous 1.55 Mb deletion on chromosome 7q11.23. For diagnostic purposes, fluorescence in situ hybridisation (FISH) with commercial FISH probes is commonly used to detect this deletion...
  75. pmc Comprehension of the communicative intent behind pointing and gazing gestures by young children with Williams syndrome or Down syndrome
    Angela E John
    Department of Psychological and Brain Sciences, University of Louisville, Louisville, KY 40292, USA
    J Speech Lang Hear Res 53:950-60. 2010
    In this study, the authors examined the ability of preschoolers with Williams syndrome (WS) or Down syndrome (DS) to infer communicative intent as expressed through gestures (pointing and eye-gaze shift).
  76. ncbi A kinematic analysis of visually-guided movement in Williams syndrome
    Darren R Hocking
    Centre for Developmental Psychiatry and Psychology, School of Psychology and Psychiatry, Monash University, Clayton, Vic, Australia
    J Neurol Sci 301:51-8. 2011
    Previous studies have reported that people with the neurodevelopmental disorder Williams syndrome exhibit difficulties with visuomotor control...
  77. ncbi The BCL7 gene family: deletion of BCL7B in Williams syndrome
    D M Jadayel
    Academic Hematology and Cytogenetics, The Institute of Cancer Research, Haddow Laboratories, Sutton, Surrey SM2 5NG, UK
    Gene 224:35-44. 1998
    ..No chromosomal rearrangements affecting BCL7B or BCL7C were detected in lymphoid malignancies. BCL7B did, however, map within the region of 7q11.23 which is commonly deleted in the congenital disorder, Williams syndrome.
  78. ncbi Global and local processing in Williams syndrome, autism, and Down syndrome: perception, attention, and construction
    Melanie A Porter
    Macquarie Centre for Cognitive Science, Macquarie University, Sydney, Australia
    Dev Neuropsychol 30:771-89. 2006
    Global and local processing was studied in Williams Syndrome (WS), autism (AS), and Down Syndrome (DS) using perception, attention, and construction tasks...
  79. ncbi Expressive vocabulary ability of toddlers with Williams syndrome or Down syndrome: a comparison
    C B Mervis
    Department of Psychological and Brain Sciences, University of Louisville, KY 40292, USA
    Dev Neuropsychol 17:111-26. 2000
    School-aged children and adults with Williams syndrome have repeatedly been found to evidence an expressive vocabulary advantage relative to same-aged individuals with Down syndrome...
  80. ncbi To modulate or not to modulate: differing results in uniquely shaped Williams syndrome brains
    Mark A Eckert
    Department of Otolaryngology Head and Neck Surgery, Medical University of South Carolina, 135 Rutledge Avenue, P O Box 250550, Charleston, SC 29425, USA
    Neuroimage 32:1001-7. 2006
    Voxel based morphometry (VBM) studies of Williams syndrome (WS) have demonstrated remarkably consistent findings of reduced posterior parietal gray matter compared to typical controls...
  81. ncbi Reduced parietal and visual cortical activation during global processing in Williams syndrome
    Dean Mobbs
    Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA 94305 5719, USA
    Dev Med Child Neurol 49:433-8. 2007
    Several lines of investigation suggest that individuals with Williams syndrome (WS), a neurodevelopmental disorder of well-characterized genetic etiology, have selective impairments in integrating local image elements into global ..
  82. ncbi Brain abnormalities in Williams syndrome: a review of structural and functional magnetic resonance imaging findings
    Andrea Parolin Jackowski
    Laboratório Interdiciplinar de Neurociências Clínicas LiNC, Universidade Federal de Sao Paulo UNIFESP, Sao Paulo, Sao Paulo, Brazil
    Eur J Paediatr Neurol 13:305-16. 2009
    b>Williams syndrome (WS) is rare genetic form of mental retardation caused by a microdeletion on chromosome 7q11.23 that causes cognitive impairment and a variety of physical abnormalities...
  83. ncbi People with Williams syndrome process faces holistically
    Helen Tager-Flusberg
    Department of Anatomy and Neurobiology, Boston University School of Medicine, Boston, MA 02118, USA
    Cognition 89:11-24. 2003
    This study compared the performance of 47 adolescents and adults with Williams syndrome to 39 age-matched controls on a face recognition task...
  84. ncbi Perceiving facial and vocal expressions of emotion in individuals with Williams syndrome
    Daniela Plesa-Skwerer
    Department of Anatomy and Neurobiology, Boston University School of Medicine, Boston, MA 02118, USA
    Am J Ment Retard 111:15-26. 2006
    People with Williams syndrome are extremely sociable, empathic, and expressive in communication. Some researchers suggest they may be especially sensitive to perceiving emotional expressions...
  85. pmc Generation and comparative analysis of approximately 3.3 Mb of mouse genomic sequence orthologous to the region of human chromosome 7q11.23 implicated in Williams syndrome
    Udaya DeSilva
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Genome Res 12:3-15. 2002
    b>Williams syndrome is a complex developmental disorder that results from the heterozygous deletion of a approximately 1.6-Mb segment of human chromosome 7q11.23...
  86. pmc Induced chromosome deletions cause hypersociability and other features of Williams-Beuren syndrome in mice
    Hong Hua Li
    Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA
    EMBO Mol Med 1:50-65. 2009
    ..Together, these partial deletion mice replicate crucial aspects of the human disorder and serve to identify genes and gene networks contributing to the neural substrates of complex behaviours and behavioural disorders...
  87. ncbi Identification of additional transcripts in the Williams-Beuren syndrome critical region
    Giuseppe Merla
    Division of Medical Genetics, University of Geneva Medical School, CMU, 1 rue Michel Servet, 1211 Geneva 4, Switzerland
    Hum Genet 110:429-38. 2002
    ..Haploinsufficiency of these newly identified WBSCR genes may contribute to certain of the WBS phenotypical features...
  88. pmc Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth
    L A Perez Jurado
    Department of Genetics, Stanford University School of Medicine, CA, USA
    Am J Hum Genet 59:781-92. 1996
    b>Williams syndrome (WS) is a developmental disorder with variable phenotypic expression associated, in most cases, with a hemizygous deletion of part of chromosomal band 7q11.23 that includes the elastin gene (ELN)...
  89. ncbi Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile
    A Antonell
    Unitat de Genètica, Universitat Pompeu Fabra, Parc de Recerca Biomédica de Barcelona PRBB, c Dr Aiguader, 88, Barcelona 08003, Spain
    J Med Genet 47:312-20. 2010
    ..23. The analysis of clinical-molecular correlations in a few reported atypical patients has been useful to propose several deleted genes as main contributors to specific aspects of the WBS phenotype...
  90. ncbi Targeted mutation of Cyln2 in the Williams syndrome critical region links CLIP-115 haploinsufficiency to neurodevelopmental abnormalities in mice
    Casper C Hoogenraad
    MGC Department of Cell Biology and Genetics, Erasmus University, P O Box 1738, 3000 DR Rotterdam, The Netherlands
    Nat Genet 32:116-27. 2002
    b>Williams syndrome is a neurodevelopmental disorder caused by the hemizygous deletion of 1.6 Mb on human chromosome 7q11.23. This region comprises the gene CYLN2, encoding CLIP-115, a microtubule-binding protein of 115 kD...
  91. pmc An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient
    Giovanni Battista Ferrero
    Department of Pediatrics, University of Torino, Torino, Italy
    Eur J Hum Genet 18:33-8. 2010
    ..Our results are consistent with the hypothesis that hemizygosity of the GTF2IRD1 and GTF2I genes might be involved in the facial dysmorphisms and in the specific motor and cognitive deficits observed in WBS patients...
  92. ncbi Frizzled 9 knock-out mice have abnormal B-cell development
    Erik A Ranheim
    Departments of Pathology and Genetics, Stanford University School of Medicine, Stanford, CA, USA
    Blood 105:2487-94. 2005
    ..Mature B cells are present in normal numbers in lymph node and spleen. These findings suggest a role for Fzd9 signaling in lymphoid development, particularly at points where B cells undergo self-renewal prior to further differentiation...
  93. ncbi Copy number variants at Williams-Beuren syndrome 7q11.23 region
    Giuseppe Merla
    Laboratory of Medical Genetics, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy
    Hum Genet 128:3-26. 2010
    ..23 CNV phenotypes. Here, we review the clinical and molecular findings and the recent insights on genomic disorders associated with CNVs involving the 7q11.23 region...
  94. pmc Callosal morphology in Williams syndrome: a new evaluation of shape and thickness
    Eileen Luders
    Laboratory of Neuro Imaging, Department of Neurology, UCLA School of Medicine, Los Angeles, California 90095 7334, USA, and IRCCS Ospedale Pediatrico Bambino Gesu, Roma, Italy
    Neuroreport 18:203-7. 2007
    ..and to create profiles of average callosal shape in a well-matched sample (n=24) of individuals with Williams syndrome and controls...
  95. pmc Genetic contributions to white matter architecture revealed by diffusion tensor imaging in Williams syndrome
    Stefano Marenco
    Clinical Brain Disorders Branch, Genes Cognition and Psychosis Program, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 104:15117-22. 2007
    ..The hemideletion of approximately 25 genes on chromosome 7q11.23 that causes Williams syndrome (WS) includes genes that regulate cytoskeletal dynamics in neurons, especially LIMK1 and CYLN2, and ..
  96. ncbi Approachability and the amygdala: insights from Williams syndrome
    Marilee A Martens
    Department of Psychology, The Ohio State University, Newark, OH 43055, USA
    Neuropsychologia 47:2446-53. 2009
    b>Williams syndrome (WS) is a genetic neurodevelopmental disorder in which hypersociability is a characteristic feature...
  97. ncbi Comparing two diagnostic laboratory tests for several microdeletions causing mental retardation syndromes: multiplex ligation-dependent amplification vs fluorescent in situ hybridization
    Eun Hae Cho
    Greencross Reference Laboratory, Yongin, Korea
    Korean J Lab Med 29:71-6. 2009
    ..allows for the detection of copy number changes of several microdeletion syndromes (1p36 deletion syndrome, Williams syndrome, Smith-Magenis syndrome, Miller-Dieker syndrome, DiGeorge syndrome, Prader-Willi/Angelman syndrome, Alagille ..
  98. pmc Genetic influences on sociability: heightened amygdala reactivity and event-related responses to positive social stimuli in Williams syndrome
    Brian W Haas
    Center of Interdisciplinary Brain Sciences Research, Stanford University School of Medicine, Palo Alto, California 94305 5795, USA
    J Neurosci 29:1132-9. 2009
    b>Williams syndrome (WS) is a genetic disorder caused by a hemizygous microdeletion on chromosome 7q11.23...
  99. ncbi Periventricular nodular heterotopia and Williams syndrome
    Russell J Ferland
    Department of Biology, Rensselaer Polytechnic Institute, Center for Biotechnology and Interdisciplinary Studies, Troy, New York, USA
    Am J Med Genet A 140:1305-11. 2006
    We report here on the first case of a child with bilateral periventricular nodular heterotopia (PNH) and Williams syndrome. Fluorescent in situ hybridization (FISH) analyses demonstrated a deletion of the elastin gene in the Williams ..
  100. ncbi Clinical manifestations and molecular investigation of 50 patients with Williams syndrome in the Greek population
    Stella Amenta
    Medical Genetics, Athens University School of Medicine, Greece
    Pediatr Res 57:789-95. 2005
    b>Williams syndrome (WS) is a well-recognized neurodevelopmental disorder manifested by both connective tissue and CNS abnormalities. The study depicts the 8-y experience and follow-up of 50 Greek children with the clinical diagnosis of WS...
  101. pmc White matter integrity deficits in prefrontal-amygdala pathways in Williams syndrome
    Suzanne N Avery
    Vanderbilt Brain Institute, Neuroscience Graduate Program, Vanderbilt University, Nashville, TN, USA
    Neuroimage 59:887-94. 2012
    b>Williams syndrome is a neurodevelopmental disorder associated with significant non-social fears...

Research Grants63

  1. A Computational Framework for Mapping Long Range Genetic Circuits
    Tolga Tasdizen; Fiscal Year: 2010
    ..equal to158 terabytes, 3) Reconstruct the hypothalamic- projections found with arginine-vasopressin and a Williams syndrome gene product to a subset of limbic targets from serial images into a single continuous dataset, and 4) ..
  2. 2013 Elastin, Elastic Fibers &Microfibrils Gordon Research Conference &Gordon R
    Zsolt Urban; Fiscal Year: 2013
    ..4) To encourage and mentor new trainees through the new Gordon Research Seminar toward career success in elastic fiber-related research and support them through travel and excellence awards. ..
  3. Development of Medial Temporal Lobe Function
    JOCELYNE H BACHEVALIER; Fiscal Year: 2013
    ..Memory impairments are common to many developmental disorders in humans, such as schizophrenia, autism, Williams syndrome, and anxiety, and are associated with dysfunction of the medial temporal lobe structures and prefrontal ..
  4. A Drosophila Model for Williams Syndrome Cognitive Processing
    Ralph J Greenspan; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): Williams syndrome (WS) is a neurodevelopmental condition that is caused by a hemizygous deletion of roughly 1.5-1.8 megabases, a region of chromosome band 7q11.23 that contains about 28 genes...
  5. Williams Syndrome: A Model for Linking Genes, Neural Systems and Social Phenotype
    JULIE RUTH KORENBERG; Fiscal Year: 2013
    ..is to link social-affective functions to their underlying neurobiological and molecular genetic bases, using Williams syndrome (WS) as a model...
  6. Argentine ants: A system a study genes involved in human behavioral disease
    CHRISTOPHER DAVID SMITH; Fiscal Year: 2010
    ..This study of WBSCR genes promises to identify novel biomarkers and gene targets for therapeutic intervention of behavioral disorders. ..
  7. Center for the Study of the Neural Bases of Language and Learning
    Doris A Trauner; Fiscal Year: 2012
    ..Language Impairment (LI);Early Unilateral Focal Brain Lesions (FL);High Functioning Autism (HFA);and Williams Syndrome (WS)...
  8. Control of meiotic double strand break formation
    Andreas Hochwagen; Fiscal Year: 2013
    ..inappropriate meiotic recombination are associated with a variety of birth defects, including Down syndrome, Williams syndrome, and Prader-Willi syndrome...
  9. Development of small molecule Limk inhibitors for probing ocular diseases
    Philip LoGrasso; Fiscal Year: 2012
    ..inflammation, cancer, primary pulmonary hypertension, intracranial aneurysms, Alzheimer's disease, and Williams syndrome. Lim kinases are downstream effectors of Rho kinases (ROCK)...
  10. Signal Transfer in the Tectothalamic Pathway
    Martha E Bickford; Fiscal Year: 2011
    ..relevant to the treatment of disorders of motion processing such as dyslexia, schizophrenia, autism and Williams Syndrome. The proposed studies may also provide insight into "blindsight", the ability of some patients to detect ..
  11. Using Drosophila Neurons to Identify Mechanisms that Control Microtubule Polarity
    Melissa Rolls; Fiscal Year: 2013
    ..Our results will form a foundation for understanding neurological diseases ranging from motor neuron disease to Williams syndrome, as they result from perturbations in microtubule organization or trafficking.
  12. Development of the Functional Neural Systems for Face Expertise
    Frank Haist; Fiscal Year: 2013
    ..g., autism, developmental prosopagnosia, Williams syndrome, perinatal stroke)...
  13. Cortical Areas and Neural Connections Underlying Scene Processing
    ROGER B TOOTELL; Fiscal Year: 2013
    ..has been implicated in numerous neurological syndromes, including prosopagnosia, navigation agnosia and Williams Syndrome. Because the techniques available to study human subjects cannot reveal all of the basic neural mechanisms ..
  14. The development of object representation in infancy
    Lisa M Oakes; Fiscal Year: 2010
    ..For example, children with Williams Syndrome and Autism Spectrum Disorder have known deficits in their visual processing...
  15. Understanding Visual Memory Capacity using Neural Field Modeling over Development
    VANESSA SIMMERING; Fiscal Year: 2012
    ..A number of disorders-including autism, Williams Syndrome, schizophrenia, attention deficit hyperactivity disorder, Alzheimer's and other dementias-lead to ..
  16. Development of Face Perception and Recognition
    Kalanit Grill Spector; Fiscal Year: 2009
    ..understanding the many developmental disorders that involve deficits in visual or face processing such as Williams Syndrome, autism and congenital prosopagnosia...
  17. IDENTIFICATION OF GENETIC MODIFIERS OF ELASTIN HAPLOISNSUFFICIENCY
    Beth A Kozel; Fiscal Year: 2013
    ..provided by applicant): Genetic alterations affecting the elastin gene cause the vascular features of Williams syndrome and isolated supravalvular aortic stenosis (SVAS)...
  18. Improved Methods for Single Subject FMRI Analysis for Clinical Application
    PAUL K MAZAIKA; Fiscal Year: 2010
    ..clinical psychiatric populations with disorders such as fragile X syndrome, Turner syndrome, autism, Williams syndrome, depression, and bipolar disorder, so that all newly developed methods can be immediately put into practice.
  19. STATISTICAL LEARNING IN LANGUAGE ACQUISITION
    Jenny Saffran; Fiscal Year: 2011
    ..Jan Edwards and Julie Washington, UW-Madison), toddlers with Williams Syndrome (with Drs. Carolyn Mervis and Cara Cashon, U. of Lousiville), and children with Cerebral Palsy (with Dr...
  20. STATISTICAL LEARNING IN LANGUAGE ACQUISITION
    Jenny R Saffran; Fiscal Year: 2013
    ..Jan Edwards and Julie Washington, UW-Madison), toddlers with Williams Syndrome (with Drs. Carolyn Mervis and Cara Cashon, U. of Lousiville), and children with Cerebral Palsy (with Dr...
  21. Early Development with Williams or Down Syndrome
    Carolyn B Mervis; Fiscal Year: 2013
    ..The research will focus on the language and cognitive development of children with Williams syndrome and children with Down syndrome...
  22. AUTOMATED DETECTION OF GENE DUPLICATIONS OR DELETIONS
    Fatima Merchant; Fiscal Year: 2005
    ..2 and 17pl 1.2 have been described and result in a rather mild phenotype. But duplications of the Williams syndrome region have not been described and thus, the phenotype is unknown...
  23. Functional Properties and Directed Connectivity in the Face-Processing Network
    Andrew D Engell; Fiscal Year: 2012
    ..is a core symptom of many psychiatric and neurodevelopmental disorders as diverse as schizophrenia, Williams syndrome, social anxiety disorders, and autistic spectrum disorders...
  24. Williams Syndrome: International Scientific and Professional Conference
    HELEN B TAGER-FLUSBERG; Fiscal Year: 2013
    ..for funds to provide partial support the biennial International Scientific and Professional Conference on Williams syndrome (WS), a well-characterized neurodevelopmental disorder caused by a chromosome microdeletion on 7q11...
  25. A Dynamic Neural Field Theory of Where-What Integration
    John P Spencer; Fiscal Year: 2012
    ..integration underlie the behavior problems prevalent in several mental health disorders including ADHD, Williams Syndrome, Schizophrenia, and Alzheimer's/Dementia...
  26. White matter connections of the face processing network in children and adults
    JENNIFER MARIE DAVIE YOON; Fiscal Year: 2009
    ..for social interaction and is atypical in developmental disorders of social communication such as autism and Williams Syndrome. The processing involved in decoding facial information is thought to depend on a network of core perceptual ..
  27. Cognitive-Brain Phenotyping of Atypical Chinese Children
    Annette Karmiloff Smith; Fiscal Year: 2005
    ..the United States, and Canada will collaborate to study Chinese children with Fragile-X syndrome (FXS), Williams syndrome (WS), and Down syndrome (DS)...
  28. Visual-social cognition in neurodevelopmental disorders
    Nouchine Hadjikhani; Fiscal Year: 2004
    ..we will be able to better understand the pathophysiology of three neurodevelopmental disorders: autism, Williams syndrome and developmental prosopagnosia...
  29. Role of TFII-I in signal transduction by growth factors
    BRENT COCHRAN; Fiscal Year: 2004
    ..Specific Aim number 4: To determine the mechanism of regulation of TFII-I by of JAK kinases. Specific Aim number 5: To determine whether TFII-I is required for the induction of endogenous c-fos gene. ..
  30. PERIODIC LIMB MOVEMENTS IN WILLIAMS SYNDROME
    Thornton Mason; Fiscal Year: 2006
    ..Further, it will provide training necessary to conduct rigorous patient-oriented research in the area of genetics of sleep and its disorders. ..
  31. Gordon Research Conference on Elastin & Elastic Fibers
    Lynn Sakai; Fiscal Year: 2001
    ..elastin and for the fibrillins are mutated in the human genetic disorders supravalvular aortic stenosis and Williams Syndrome (ELN), the Marfan syndrome (FBNI), and congenital contractural arachnodactyly (FBN2)...
  32. Analysis of PHD-Domain Proteins Required For Meiosis
    Christopher Makaroff; Fiscal Year: 2002
    ..Finally, PHD-domain containing proteins have been associated with several diseases, including, Williams syndrome, head and neck squamous cell carcinomas, myeloid leukemia and autoimmune polyglandular syndrome type 1...
  33. ELASTIN IN SVAS AND WILLIAMS SYNDROME
    Mark Keating; Fiscal Year: 2000
    ..Second, we will determine if vitamin D fortification reduces functional elastogenesis and accelerates vascular disease in ELN mutant mice. ..
  34. Genetics of Turner Syndrome Neurocognitive Phenotype
    Andrew Zinn; Fiscal Year: 2006
    ..Following the paradigm of Williams syndrome, another complex genetic disorder with characteristic physical and cognitive phenotypes, we reasoned that TS ..
  35. Auditory Memory Processing in Williams Syndrome
    JEFFREY MARLER; Fiscal Year: 2004
    This project investigates the sensory and memory underpinnings of language processing in individuals with Williams syndrome (WS) and Down's syndrome (DS)...
  36. A STIMULUS CONTROL ANALYSIS OF ATTENDING
    RICHARD SERNA; Fiscal Year: 2004
    ..preliminary evidence of selective deficits in fast mapping among individuals with severe mental retardation, Williams Syndrome, or specific language purpose of vocabulary expansion...
  37. The Role of Fzd9 in Hippocampal and Cortical Development
    JENNIFER FREESE; Fiscal Year: 2009
    ..provided by applicant): Frizzled9, a Wnt receptor gene, is within the chromosomal deletion interval for Williams syndrome in humans. Symptoms of this disease include visuospatial processing defects and a high incidence of seizures...
  38. REGULATION OF ACTIN FILAMENT ASSEMBLIES BY COFILIN/ADF
    Amy McGough; Fiscal Year: 2003
    ..Failure to regulate cofilin properly leads to Williams syndrome in man, while point mutations in cofilin produce paralysis in Caenorhabiditis elegans...
  39. MOLECULAR ANALYSIS OF WILLIAMS SYNDROME
    Ananda Roy; Fiscal Year: 2007
    ..Finally, we will employ RNAi technologies to determine the biological role of this factor in osteoblast differentiation. ..
  40. MOLECULAR DISSECTION OF THE WILLIAMS SYNDROME DELETION
    Uta Francke; Fiscal Year: 1999
    DESCRIPTION (Adapted from the Investigator's Abstract): Williams syndrome (WS) is a developmental disorder with vascular, connective tissue, endocrine and central nervous system manifestations...
  41. The Role of Experience in the Development of Spatial Working Memory
    ANNE SCHUTTE; Fiscal Year: 2007
    ..by applicant): Spatial working memory deficits occur in many developmental disabilities, including ADHD, Williams Syndrome, and autism...
  42. ROLE OF ADF PHOSPHORYLATION IN NEURONAL DEVELOPMENT
    James Bamburg; Fiscal Year: 2003
    ..Hemizygosity of LIM kinase I causes Williams syndrome, a visuo-spatial cognitive defect resulting from aberrant neuronal migration in the human brain...
  43. Identification of Pericentromeric Imbalances
    Lisa Shaffer; Fiscal Year: 2005
    ..Known deletion syndromes exist close to the centromeres (e.g., Williams syndrome, Potocki-Shaffer syndrome, DiGeorge syndromes)...
  44. ORIGINS OF COMMUNICATION DISORDERS
    Elizabeth Bates; Fiscal Year: 1991
    ..Project 3 will compare Williams Syndrome (WMS), a rare form of mental retardation in which language abilities eventually surpass other cognitive ..
  45. Language Competence and Performance in Williams Syndrome
    Andrea Zukowski; Fiscal Year: 2004
    ..The research focuses on people with Williams syndrome (WS)--a neurodevelopmental genetic disorder which results in moderate mental retardation, but impressively ..
  46. BAP135 in the central nervous system
    Sonye Danoff; Fiscal Year: 2005
    ..neuronal function, as well as to evaluate this gene as a candidate for the neurocognitive phenotype of Williams Syndrome. The training program has been designed to gain expertise in the fields of molecular biology and ..
  47. Visual detection and integration in Williams Syndrome
    Melanie Palomares; Fiscal Year: 2005
    I propose to characterize the basic visual abilities of children and adults with Williams Syndrome (WS), and of normally developing children...
  48. Molecular Genetic Basis of Williams Syndrome
    Frank Ruddle; Fiscal Year: 2005
    DESCRIPTION (provided by the applicant): Williams Syndrome (WS) is an autosomal dominant genetic condition characterized by an ensemble of physical, cognitive, and behavioral traits. The syndrome has been mapped to 7ql1...
  49. GENOTYPE/PHENOTYPE CORRELATIONS IN WILLIAMS SYNDROME
    CAROLYN MERVIS; Fiscal Year: 2009
    DESCRIPTION (provided by applicant): Williams syndrome (WS) is a complex neurodevelopmental disorder characterized by mild to moderate mental retardation (MR), a distinctive personality profile, an unusual cognitive profile, infantile ..
  50. EARLY DEVELOPMENT: WILLIAMS OR DOWN SYNDROME CHILDREN
    CAROLYN MERVIS; Fiscal Year: 2003
    ..Previous researchers have argued that children with Williams syndrome have language skills that exceed their cognitive skills, whereas children with Down syndrome have cognitive ..
  51. Object and Space Processing: A Developmental Perspective
    Brianna Paul; Fiscal Year: 2005
    ..performance indices and functional brain activity in individuals with congenital/genetic abnormalities (Williams Syndrome) and in individuals who have experienced a prenatal stroke...
  52. Social Behavior of Young Children with Williams Syndrome
    BONITA KLEIN TASMAN; Fiscal Year: 2004
    The study of children with Williams syndrome, a neurodevelopmental disorder with a known genetic basis, is fascinating for those interested in understanding the genetic underpinnings of behavior...
  53. Development of social-emotional functioning in children with Williams syndrome
    DANIELA PLESA SKWERER; Fiscal Year: 2007
    DESCRIPTION (provided by applicant): Williams syndrome (WS) is a genetically based disorder associated with a distinctive social and behavioral phenotype, characterized by a mixture of unique aspects of sociability (e.g...
  54. The Development of Visual Integration & Attention: A High-Density EEG Study
    Melanie Palomares; Fiscal Year: 2008
    ..between dorsal and ventral visual functions have been found, such as in amblyopia, dyslexia, autism, Williams Syndrome and Turner Syndrome...
  55. Infants at Risk for Autism Spectrum Disorders or Language Delay
    Helen Tager Flusberg; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  56. Language in Autism: Clinical and Basic Studies
    Helen Tager Flusberg; Fiscal Year: 2006
    ..These projects will be coordinated by a clinical and administrative core. ..
  57. SOCIAL COGNITION IN WILLIAMS SYNDROME
    HELEN B TAGER FLUSBERG; Fiscal Year: 2010
    ..The main goals of our research program are to advance our understanding of the social phenotype of Williams syndrome (WS), and to define the cognitive mechanisms that underlie the unique social-affective features that define ..
  58. Epigenesis of Cerebral Asymmetry in Twins
    Mark Eckert; Fiscal Year: 2004
    ....
  59. Social and Affective Processes in Autism
    Helen Tager Flusberg; Fiscal Year: 2007
    ....
  60. Algorithms to Map Disease & Genetic Effects on the Brain
    Paul Thompson; Fiscal Year: 2005
    ..Validated on unique datasets, these tools will greatly empower biomedical studies that bridge imaging and genetics. They will help investigate the genetic transmission, triggers, and dynamics of disease in whole human populations. ..