메뉴 건너뛰기




Volumn 9, Issue 2-3, 1999, Pages 183-199

Syndrome de Williams et Beuren : Caractérisation biologique et psychologique

Author keywords

Chromosome 7; Cognitive dissociation; Elastine; Mental retardation; Music; Williams syndrome

Indexed keywords


EID: 0040886495     PISSN: 11554452     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (3)

References (60)
  • 1
    • 0021957773 scopus 로고
    • The psychological characteristics of infantile hypercalcemia: A preliminary investigation
    • Arnold, R., Yule, W., & Martin, N. (1985). The psychological characteristics of infantile hypercalcemia: A preliminary investigation. Developmental Medicine and Child Neurology, 27, 49-59.
    • (1985) Developmental Medicine and Child Neurology , vol.27 , pp. 49-59
    • Arnold, R.1    Yule, W.2    Martin, N.3
  • 4
    • 0000787303 scopus 로고
    • Language, cognition, and brain organization in a neurodevelopmental disorder
    • M. Gunnar & C. Nelson (Eds.). Hillsdale, NJ: Lawrence Erlbaum Associates
    • Bellugi, U., Bihrle, A., Neville, H. J., Jernigan, T. L., & Doherty, S. (1992). Language, cognition, and brain organization in a neurodevelopmental disorder. In M. Gunnar & C. Nelson (Eds.), Developmental neurobehavioral neuroscience (pp. 201-232). Hillsdale, NJ: Lawrence Erlbaum Associates.
    • (1992) Developmental Neurobehavioral Neuroscience , pp. 201-232
    • Bellugi, U.1    Bihrle, A.2    Neville, H.J.3    Jernigan, T.L.4    Doherty, S.5
  • 5
    • 0003666796 scopus 로고    scopus 로고
    • Excessive use of linguistically encoded affect: Stories from young children with Williams syndrome
    • University of California, San Diego, Center for Research in Language, Project in Cognitive and Neural Development
    • Bellugi, U., Losh, M., Reilly, J., & Anderson, D. (1998). Excessive use of linguistically encoded affect: Stories from young children with Williams syndrome (Technical Report CND-9801). University of California, San Diego, Center for Research in Language, Project in Cognitive and Neural Development.
    • (1998) Technical Report CND-9801
    • Bellugi, U.1    Losh, M.2    Reilly, J.3    Anderson, D.4
  • 6
    • 0002430514 scopus 로고
    • Dissociation between language and cognitive functions in Williams syndrome
    • D. Bishop & K. Mogford (Eds.). London: Churchill Livingstone
    • Bellugi, U., Marks, S., Bihrle, A., & Sabo, H. (1988a). Dissociation between language and cognitive functions in Williams syndrome. In D. Bishop & K. Mogford (Eds.), Language development in exceptional circumstances (pp. 177-189). London: Churchill Livingstone.
    • (1988) Language Development in Exceptional Circumstances , pp. 177-189
    • Bellugi, U.1    Marks, S.2    Bihrle, A.3    Sabo, H.4
  • 7
    • 0001913261 scopus 로고
    • Spatial deficits in children with Williams syndrome
    • J. Stiles-Davis M. Kritchevsky, & U. Bellugi (Eds.). Hillsdale, NJ: Lawrence Erlbaum Associates
    • Bellugi, U., Sabo, H., & Vaid, J. (1988b). Spatial deficits in children with Williams syndrome. In J. Stiles-Davis M. Kritchevsky, & U. Bellugi (Eds.), Spatial cognition: Brain bases and development (pp. 273-298). Hillsdale, NJ: Lawrence Erlbaum Associates.
    • (1988) Spatial Cognition: Brain Bases and Development , pp. 273-298
    • Bellugi, U.1    Sabo, H.2    Vaid, J.3
  • 9
    • 0017819225 scopus 로고
    • The Williams elfin facies syndrome: The psychological profile as an aid in syndrome identification
    • Bennett, F. C., La Veck, B., & Sells, C. J. (1978). The Williams elfin facies syndrome: The psychological profile as an aid in syndrome identification. Pediatrics, 61, 303.
    • (1978) Pediatrics , vol.61 , pp. 303
    • Bennett, F.C.1    La Veck, B.2    Sells, C.J.3
  • 10
    • 0001447853 scopus 로고
    • Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance
    • Beuren, A. J., Apitz, J., & Harmjanz, D. (1962). Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance. Circulation, 26, 1235-1240.
    • (1962) Circulation , vol.26 , pp. 1235-1240
    • Beuren, A.J.1    Apitz, J.2    Harmjanz, D.3
  • 11
    • 0001451071 scopus 로고
    • The syndrome of supravalvular aortic stenosis, peripheral pulmonary stenosis, mental retardation and similar facial appearance
    • Beuren, A. J., Schulze, C., Eberle, P., Harmjanz, D., & Apitz, J. (1964). The syndrome of supravalvular aortic stenosis, peripheral pulmonary stenosis, mental retardation and similar facial appearance. American Journal of Cardiology, 13, 471-483.
    • (1964) American Journal of Cardiology , vol.13 , pp. 471-483
    • Beuren, A.J.1    Schulze, C.2    Eberle, P.3    Harmjanz, D.4    Apitz, J.5
  • 12
    • 0024726403 scopus 로고
    • Seeing either the forest or the trees: Dissociation in visuospatial processing
    • Bihrle, A., Bellugi, U., Delis, D., & Marks, S. (1989). Seeing either the forest or the trees: Dissociation in visuospatial processing. Brain and Cognition, 11, 37-49.
    • (1989) Brain and Cognition , vol.11 , pp. 37-49
    • Bihrle, A.1    Bellugi, U.2    Delis, D.3    Marks, S.4
  • 13
    • 0032171924 scopus 로고    scopus 로고
    • Syntax and morphology in Williams syndrome
    • Clashen, H., & Almazan, M. (1998). Syntax and morphology in Williams syndrome. Cognition, 68, 167-198.
    • (1998) Cognition , vol.68 , pp. 167-198
    • Clashen, H.1    Almazan, M.2
  • 14
    • 0027403375 scopus 로고
    • The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis
    • Curran, M. E., Atkinson, D. L., Ewart, A. K., Morris, C. A., & Leppert, M. (1993). The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. Cell, 73, 159-168.
    • (1993) Cell , vol.73 , pp. 159-168
    • Curran, M.E.1    Atkinson, D.L.2    Ewart, A.K.3    Morris, C.A.4    Leppert, M.5
  • 19
    • 0028326688 scopus 로고
    • Cytoarchitectonic anomalies in a genetically based disorder: Williams syndrome
    • Galaburda, A. M., Wang, P. P., Bellugi, U., & Rossen, M. (1994). Cytoarchitectonic anomalies in a genetically based disorder: Williams syndrome. NeuroReport, 5, 753-757.
    • (1994) NeuroReport , vol.5 , pp. 753-757
    • Galaburda, A.M.1    Wang, P.P.2    Bellugi, U.3    Rossen, M.4
  • 20
    • 0028973480 scopus 로고
    • Letters to science: Asymmetrical ability
    • Hickock, G., Bellugi, U., & Jones, W. (1995). Letters to Science: Asymmetrical ability. Science, 270, 219-220.
    • (1995) Science , vol.270 , pp. 219-220
    • Hickock, G.1    Bellugi, U.2    Jones, W.3
  • 22
    • 0032393093 scopus 로고    scopus 로고
    • Syndrome specific characteristics in Williams syndrome: To what extent do early behavioural patterns persist into adult life?
    • Howlin, P., Davies, M., & Udwin, O. (1998b). Syndrome specific characteristics in Williams syndrome: To what extent do early behavioural patterns persist into adult life? Journal of Applied Research on Intellectual Disabilities, 11, 207-226.
    • (1998) Journal of Applied Research on Intellectual Disabilities , vol.11 , pp. 207-226
    • Howlin, P.1    Davies, M.2    Udwin, O.3
  • 23
    • 0025260871 scopus 로고
    • Anomalous brain morphology on magnetic resonance images in Williams syndrome and Down syndrome
    • Jernigan, T. L., & Bellugi, U. (1990). Anomalous brain morphology on magnetic resonance images in Williams syndrome and Down syndrome. Archives of Neurology, 47, 529-533.
    • (1990) Archives of Neurology , vol.47 , pp. 529-533
    • Jernigan, T.L.1    Bellugi, U.2
  • 24
    • 0041114925 scopus 로고
    • Neuroanatomical distinctions between Williams and Down syndromes
    • S. Broman & J. Grafman (Eds.). Hillsdale, NJ: Lawrence Erlbaum Associates
    • Jernigan, T. L., & Bellugi, U. (1994). Neuroanatomical distinctions between Williams and Down syndromes. In S. Broman & J. Grafman (Eds.), Atypical cognitive deficits in developmental disorders: Implications for brain function (pp. 57-66). Hillsdale, NJ: Lawrence Erlbaum Associates.
    • (1994) Atypical Cognitive Deficits in Developmental Disorders: Implications for Brain Function , pp. 57-66
    • Jernigan, T.L.1    Bellugi, U.2
  • 26
    • 0016689490 scopus 로고
    • The Williams elfin facies syndrome: A new perspective
    • Jones, K., & Smith, D. (1975). The Williams elfin facies syndrome: A new perspective. Journal of Pediatrics, 86, 718-723.
    • (1975) Journal of Pediatrics , vol.86 , pp. 718-723
    • Jones, K.1    Smith, D.2
  • 27
    • 0039927939 scopus 로고
    • Severe infantile hypercalcaemia with special reference to the facies
    • Joseph, M. C., & Parrott, D. (1958). Severe infantile hypercalcaemia with special reference to the facies. Archives of Disease in Childhood, 33, 385.
    • (1958) Archives of Disease in Childhood , vol.33 , pp. 385
    • Joseph, M.C.1    Parrott, D.2
  • 28
    • 0031886974 scopus 로고    scopus 로고
    • A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK
    • Jurado, L. A. P., Wang, Y., Peoples, R., Coloma, A., Cruces, J., & Francke, U. (1998). A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK. Human Molecular Genetics, 7, 325-334.
    • (1998) Human Molecular Genetics , vol.7 , pp. 325-334
    • Jurado, L.A.P.1    Wang, Y.2    Peoples, R.3    Coloma, A.4    Cruces, J.5    Francke, U.6
  • 29
    • 0000350347 scopus 로고    scopus 로고
    • Crucial differences between developmental cognitive neuroscience and adult neuropsychology
    • Karmiloff-Smith, A. (1997). Crucial differences between developmental cognitive neuroscience and adult neuropsychology. Developmental Neuropsychology, 13, 513-524.
    • (1997) Developmental Neuropsychology , vol.13 , pp. 513-524
    • Karmiloff-Smith, A.1
  • 30
    • 0031714939 scopus 로고    scopus 로고
    • Development itself is the key to understanding developmental disorders
    • Karmiloff-Smith, A. (1998). Development itself is the key to understanding developmental disorders. Trends in Cognitive Sciences, 2, 389-398.
    • (1998) Trends in Cognitive Sciences , vol.2 , pp. 389-398
    • Karmiloff-Smith, A.1
  • 33
    • 17044458722 scopus 로고    scopus 로고
    • Linguistic dissociations in Williams syndrome: Evaluating receptive syntax in on-line and off-line tasks
    • Karmiloff-Smith, A., Tyler, L. K., Voice, K., Sims, K., Udwin, O., Howlin, P., & Davies, M. (1998). Linguistic dissociations in Williams syndrome: Evaluating receptive syntax in on-line and off-line tasks. Neuropsychologia, 6, 342-351.
    • (1998) Neuropsychologia , vol.6 , pp. 342-351
    • Karmiloff-Smith, A.1    Tyler, L.K.2    Voice, K.3    Sims, K.4    Udwin, O.5    Howlin, P.6    Davies, M.7
  • 36
    • 0001194993 scopus 로고    scopus 로고
    • Musical ability in individuals with Williams Syndrome
    • Levitin, D. J., & Bellugi, U. (1997). Musical ability in individuals with Williams Syndrome. Music Perception, 15, 357-389.
    • (1997) Music Perception , vol.15 , pp. 357-389
    • Levitin, D.J.1    Bellugi, U.2
  • 37
    • 0032400961 scopus 로고    scopus 로고
    • A novel human gene, WSTF, is deleted in Williams syndrome
    • Lu, X., Meng, X., Morris, C. A., & Keating, M. T. (1998). A novel human gene, WSTF, is deleted in Williams syndrome. Genomics, 54, 241-249.
    • (1998) Genomics , vol.54 , pp. 241-249
    • Lu, X.1    Meng, X.2    Morris, C.A.3    Keating, M.T.4
  • 40
    • 0031794713 scopus 로고    scopus 로고
    • Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel gene
    • Meng, X., Lu, X., Li, Z., Green, E. D., Massa, H., Trask, B. J., Morris, C. A., & Keating, M. T. (1998a). Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel gene. Human Genetics, 103, 590-599.
    • (1998) Human Genetics , vol.103 , pp. 590-599
    • Meng, X.1    Lu, X.2    Li, Z.3    Green, E.D.4    Massa, H.5    Trask, B.J.6    Morris, C.A.7    Keating, M.T.8
  • 41
    • 0032168133 scopus 로고    scopus 로고
    • A novel human gene FKBP6 is deleted in Williams syndrome
    • Meng, X., Lu, X., Morris, C. A., & Keating, M. T. (1998b). A novel human gene FKBP6 is deleted in Williams syndrome. Genomics, 52, 130-137.
    • (1998) Genomics , vol.52 , pp. 130-137
    • Meng, X.1    Lu, X.2    Morris, C.A.3    Keating, M.T.4
  • 42
    • 0030294803 scopus 로고    scopus 로고
    • Human genetics: Dissecting Williams Syndrome
    • Monaco, A. P. (1996). Human genetics: Dissecting Williams Syndrome. Current Biology, 6, 1396-1398.
    • (1996) Current Biology , vol.6 , pp. 1396-1398
    • Monaco, A.P.1
  • 44
    • 0027292549 scopus 로고
    • Supravalvular aortic stenosis cosegregates with a familiam 6;7 translocation which disrupts the elastine gene
    • Morris, C. A., Loker, J., Ensing, G., & Stock, A. D. (1993b). Supravalvular aortic stenosis cosegregates with a familiam 6;7 translocation which disrupts the elastine gene. American Journal of Medical Genetics, 46, 737-744.
    • (1993) American Journal of Medical Genetics , vol.46 , pp. 737-744
    • Morris, C.A.1    Loker, J.2    Ensing, G.3    Stock, A.D.4
  • 50
    • 0038990562 scopus 로고
    • Editorial: Musical ability
    • Sacks, O. (1995). Editorial: Musical ability. Science, 268, 621.
    • (1995) Science , vol.268 , pp. 621
    • Sacks, O.1
  • 51
    • 0028932620 scopus 로고
    • In vivo evidence of structural brain asymmetry in musicians
    • Schlaug, G., Jäncke, L., Huang, X., & Steinmetz, H. (1995a). In vivo evidence of structural brain asymmetry in musicians. Science, 267, 699-700.
    • (1995) Science , vol.267 , pp. 699-700
    • Schlaug, G.1    Jäncke, L.2    Huang, X.3    Steinmetz, H.4
  • 52
    • 0031241289 scopus 로고    scopus 로고
    • Word learning in a special population: Do individuals with Williams syndrome obey lexical constraints?
    • Stevens, T., & Karmiloff-Smith, A. (1997). Word learning in a special population: Do individuals with Williams syndrome obey lexical constraints? Journal of Child Language, 24, 737-765.
    • (1997) Journal of Child Language , vol.24 , pp. 737-765
    • Stevens, T.1    Karmiloff-Smith, A.2
  • 55
    • 0024348718 scopus 로고
    • Neurologic features of Williams and Down syndromes
    • Trauner, D. A., Bellugi, U., & Chase, C. (1989). Neurologic features of Williams and Down syndromes. Pediatric Neurology, 5, 166-168.
    • (1989) Pediatric Neurology , vol.5 , pp. 166-168
    • Trauner, D.A.1    Bellugi, U.2    Chase, C.3
  • 56
    • 0030856250 scopus 로고    scopus 로고
    • Do individuals with Williams syndrome have bizarre semantics? evidence for lexical organization using an on-line task
    • Tyler, L. K., Karmiloff-Smith, A., Voice, J. K., Stevens, T., Grant, J., Udwin, O., Davies, M., & Howlin, P. (1997). Do individuals with Williams syndrome have bizarre semantics? Evidence for lexical organization using an on-line task. Cortex, 33, 515-527.
    • (1997) Cortex , vol.33 , pp. 515-527
    • Tyler, L.K.1    Karmiloff-Smith, A.2    Voice, J.K.3    Stevens, T.4    Grant, J.5    Udwin, O.6    Davies, M.7    Howlin, P.8
  • 57
    • 0029800241 scopus 로고    scopus 로고
    • A longitudinal study of cognitive abilities and educational attainment in Williams syndrome
    • Udwin, O., Davies, M., & Howlin, P. (1996). A longitudinal study of cognitive abilities and educational attainment in Williams syndrome. Developmental Medicine and Child Neurology, 38, 1020-1029.
    • (1996) Developmental Medicine and Child Neurology , vol.38 , pp. 1020-1029
    • Udwin, O.1    Davies, M.2    Howlin, P.3
  • 59
    • 0023135739 scopus 로고
    • Cognitive abilities and behavioral characteristics of children with idiopathic infantile hypercalcemia
    • Udwin, O., Yule, W., & Martin, N. (1987). Cognitive abilities and behavioral characteristics of children with idiopathic infantile hypercalcemia. J Child Psychol Psychiat, 28, 297-309.
    • (1987) J Child Psychol Psychiat , vol.28 , pp. 297-309
    • Udwin, O.1    Yule, W.2    Martin, N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.