about
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-BLIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognitionThe elastin gene is disrupted by a translocation associated with supravalvular aortic stenosisIntroduction: Williams syndromeSpectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndromeSevere expressive-language delay related to duplication of the Williams-Beuren locus.A novel human gene FKBP6 is deleted in Williams syndromeBAC-FISH refutes report of an 8p22-8p23.1 inversion or duplication in 8 patients with Kabuki syndrome18p- syndrome and hypopituitarism.Genome rearrangements detected by SNP microarrays in individuals with intellectual disability referred with possible Williams syndrome.The behavioral phenotype of Williams syndrome: A recognizable pattern of neurodevelopment.Functional, structural, and metabolic abnormalities of the hippocampal formation in Williams syndrome.Alpha 1 antitrypsin deficiency alleles are associated with joint dislocation and scoliosis in Williams syndrome.Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene.Behavioral phenotypes in genetic syndromes: genetic clues to human behavior.Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome.Genetic counseling of adults with Williams syndrome: a first studyStrong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients.Beare-Stevenson cutis gyrata syndrome.Natural history of Williams syndrome: physical characteristics.Williams syndrome and related disorders.Abnormalities in neural processing of emotional stimuli in Williams syndrome vary according to social vs. non-social content.A novel human gene, WSTF, is deleted in Williams syndrome.Frequency of the 7q11.23 inversion polymorphism in transmitting parents of children with Williams syndrome and in the general population does not differ between North America and Europe.Retinotopically defined primary visual cortex in Williams syndrome.The Williams syndrome chromosome 7q11.23 hemideletion confers hypersocial, anxious personality coupled with altered insula structure and function.Longitudinal assessment of intellectual abilities of children with Williams syndrome: multilevel modeling of performance on the Kaufman Brief Intelligence Test-Second Edition.Genetic contributions to white matter architecture revealed by diffusion tensor imaging in Williams syndromeDuplication of GTF2I results in separation anxiety in mice and humans.A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7.Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.Diagnosis and management of medical problems in adults with Williams-Beuren syndrome.Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management.A genetic model for understanding higher order visual processing: functional interactions of the ventral visual stream in Williams syndrome.Hypothesis for development of a behavioral phenotype in Williams syndrome.Prenatal diagnosis of distal arthrogryposis.Sudden death in Williams syndrome: report of ten cases.The subtle facial signs of prenatal exposure to alcohol: an anthropometric approach.New perspectives on the face in fetal alcohol syndrome: what anthropometry tells us.Genetic aspects of supravalvular aortic stenosis.
P50
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pediatric geneticist
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Colleen A. Morris
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