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Record 1Rapid detection of microdeletions using fluorescence in situ hybridisation (FISH) on buccal smears [letter] Nieuwint AW; Van Hagen JM; Heins YM; Madan K; Ten Kate LP J Med Genet (UNKNOWN) Jun 2000, 37 (6) pE4, ISSN 1468-6244 Languages: ENGLISH Document type: LETTER
Record 2Williams syndrome: cognition, personality, and adaptive behavior. Mervis CB; Klein-Tasman BP Department of Psychological and Brain Sciences, University of Louisville, Louisville, Kentucky 40292, USA. [email protected] Ment Retard Dev Disabil Res Rev (UNITED STATES) 2000, 6 (2) p148-58, ISSN 1080-4013 Languages: ENGLISH Document type: JOURNAL ARTICLE; REVIEW; REVIEW, TUTORIAL
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. The behavioral phenotype for Williams syndrome is characterized by a distinctive cognitive profile and an unusual personality profile. Relative to overall level of intellectual ability, individuals with Williams syndrome typically show a clear strength in auditory rote memory, a strength in language, and an extreme weakness in visuospatial construction. The personality of individuals with Williams syndrome involves high sociability, overfriendliness, and empathy, with an undercurrent of anxiety related to social situations. The adaptive behavior profile for Williams syndrome involves clear strength in socialization skills (especially interpersonal skills related to initiating social interaction), strength in communication, and clear weakness in daily living skills and motor skills, relative to overall level of adaptive behavior functioning. Literature relevant to each of the components of the Williams syndrome behavioral phenotype is reviewed, including operationalizations of the Williams syndrome cognitive profile and the Williams syndrome personality profile. The sensitivity and specificity of these profiles for Williams syndrome, relative to individuals with other syndromes or mental retardation or borderline normal intelligence of unknown etiology, is considered. The adaptive behavior profile is discussed in relation to the cognitive and personality profiles. The importance of operationalizations of crucial components of the behavioral phenotype for the study of genotype/phenotype correlations in Williams syndrome is stressed. MRDD Research Reviews 2000;6:148-158. Copyright 2000 Wiley-Liss, Inc. (71 Refs.)
Record 3Sudden death of a 21-year-old female with Williams syndrome showing rare complications. Imashuku S; Hayashi S; Kuriyama K; Hibi S; Tabata Y; Todo S Division of Pediatrics, Children's Research Hospital, Kyoto, Japan. [email protected] Pediatrics international (AUSTRALIA) Jun 2000, 42 (3) p322-4, ISSN 1328-8067 Languages: ENGLISH Document type: JOURNAL ARTICLE
Record 4A componential view of theory of mind: evidence from Williams syndrome. Tager-Flusberg H; Sullivan K University of Massachusetts, MA, Boston, USA. [email protected] Cognition (NETHERLANDS) Jul 14 2000, 76 (1) p59-90, ISSN 0010-0277 Languages: ENGLISH Document type: JOURNAL ARTICLE
In this paper we argue that there are two distinct components of a theory of mind: a social-cognitive and a social-perceptual component. Evidence for this proposal is presented from various sources, including studies of children with Williams syndrome, a rare genetic neurodevelopmental disorder. Earlier work has demonstrated that people with Williams syndrome appear to be spared in the social-perceptual component of a theory of mind. In this paper we present evidence that they are not spared in the social-cognitive component of theory of mind. Three experiments with young children with Williams syndrome were conducted. In each experiment the children with Williams syndrome were compared to age-, IQ-, and language-matched children with Prader-Willi syndrome, and children with non-specific mental retardation. The experiments used different measures of theory of mind ability, including false belief (Experiment 1), explanation of action (Experiment 2), and recognition of emotional expressions (Experiment 3). In none of these experiments did the children with Williams syndrome evidence superior performance compared to the control groups. The results from this and other studies on Williams syndrome support the view that the social-cognitive and social-perceptual components of a theory of mind are dissociable. In Williams syndrome only the latter components, which are linked to distinct neurobiological substrates, are spared.
Record 5Expressive vocabulary ability of toddlers with Williams syndrome or Down syndrome: a comparison. Mervis CB; Robinson BF Department of Psychological and Brain Sciences, University of Louisville, KY 40292, USA. [email protected] Dev Neuropsychol (UNITED STATES) 2000, 17 (1) p111-26, ISSN 8756-5641 Languages: ENGLISH Document type: JOURNAL ARTICLE
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. However, Singer Harris, Bellugi, Bates, Jones, and Rossen (1997) argued that this advantage is reversed during the initial period of language acquisition; during this time, children with Down syndrome have larger expressive vocabularies than children with Williams syndrome. This result may have been due to methodological problems, however. This study uses a different design to reconsider the question of whether toddlers with Williams syndrome show an expressive vocabulary advantage over same-aged toddlers with Down syndrome. Parents of twenty-four 2-year-olds with Williams syndrome and twenty-eight 2-year-olds with Down syndrome completed the vocabulary checklist from the MacArthur Communicative Development Inventory: Words and Sentences. The 2 groups were carefully matched for chronological age (CA). Results indicated that the toddlers with Williams syndrome had substantially and significantly larger expressive vocabulary sizes than did the CA-matched children with Down syndrome. Additional analyses of children for whom data were available between the ages of 2 years 0 months and 2 years 3 months indicated that the expressive vocabulary advantage for children with Williams syndrome was present even at this very young age when none of the children had begun to produce word combinations. The Discussion section that follows addresses the discrepancy between these findings and those of Singer Harris et al. and considers the variability present within both the Williams syndrome and Down syndrome samples. Also discussed is the continuity across the lifespan in both the expressive vocabulary advantage shown by individuals with Williams syndrome relative to same-aged individuals with Down syndrome and the expressive vocabulary variability within each syndrome.
Record 6Echocardiographic features of genetic diseases: part 6. Complex cardiovascular defects. Alizad A; Seward JB Division of Cardiovascular Diseases and Internal Medicine, Mayo Clinic and Mayo Foundation, Rochester, Minn. 55905, USA. Journal of the American Society of Echocardiography (UNITED STATES) Jun 2000, 13 (6) p637-43, ISSN 0894-7317 Languages: ENGLISH Document type: JOURNAL ARTICLE
Record 7Elastic-fiber pathologies: primary defects in assembly-and secondary disorders in transport and delivery [comment] [editorial] Urban Z; Boyd CD American journal of human genetics (UNITED STATES) Jul 2000, 67 (1) p4-7, ISSN 0002-9297 Comment on Am J Hum Genet 2000 Jul;67(1):23-36 Languages: ENGLISH Document type: COMMENT; EDITORIAL
Record 8Isolation and characterization of BEN, a member of the TFII-I family of DNA-binding proteins containing distinct helix-loop-helix domains. Bayarsaihan D; Ruddle FH Department of Molecular, Cellular, and Developmental Biology, Kline Biology Tower, Yale University, 266 Whitney Avenue, New Haven, CT 06520, USA. Proceedings of the National Academy of Sciences of the United States of America (UNITED STATES) Jun 20 2000, 97 (13) p7342-7, ISSN 0027-8424 Contract/Grant No.: GM0966-37, GM, NIGMS Languages: ENGLISH Document type: JOURNAL ARTICLE
The transcriptional regulation of the Hoxc8 gene is controlled during early mouse embryogenesis by an enhanceosome-like control region, termed the early enhancer (EE), located 3 kb upstream from the Hoxc8 translation start site. The EE is involved in establishing the posterior expression pattern of Hoxc8 at embryonic day (E) 8.5-9. 0. Genetic and biochemical data have shown that nuclear factors interact with this region in a sequence-specific manner. We have used a yeast one-hybrid screen in a search for transcription factors that bind to EE motifs and have isolated a novel murine DNA-binding protein, termed BEN (binding factor for early enhancer). The ORF of BEN encodes a protein of 1072 amino acids and contains six helix-loop-helix domains, a hydrophobic leucine zipper-like motif, and a serine-rich repeat. The murine BEN gene is structurally similar to the human gene TFII-I in that both genes encode unique 95-amino acid long helix-loop/span-helix domains. The BEN gene produces several major transcripts (3.6, 4.4, and 5.9 kb) present in most adult tissues and shows discrete spatial and temporal domains of expression in areas of epithelial-mesenchymal interaction during mouse embryogenesis from E9.5 to E12.5. Several BEN-encoded polypeptides of different sizes ranging from 165 to 40 kDa were identified by Western blot analysis using BEN-specific polyclonal Abs. We propose, on the bases of sequence homology, that BEN is the mouse ortholog of the recently described human gene, WBSCR11, known also as GTF2IRD1, GTF3, Cream1, and MusTRD1. This gene is deleted hemizygously in individuals with Williams Syndrome, an autosomal dominant genetic condition characterized by complex physical, cognitive, and behavioral traits resulting from a perturbed developmental process.
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