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Volumn 4, Issue 1, 1999, Pages 64-67

Mutation screening of the UBE3A/E6-AP gene in autistic disorder

Author keywords

Autism; Genetics; Mutation screen; Polymorphism; Sequencing

Indexed keywords

UBIQUITIN PROTEIN LIGASE;

EID: 0033006847     PISSN: 13594184     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.mp.4000472     Document Type: Article
Times cited : (48)

References (30)
  • 2
    • 0027934165 scopus 로고
    • Duplication of chromosome 15q11-13 in two individuals with autistic disorder
    • 2 Baker P, Piven J, Schwartz S, Patil S. Duplication of chromosome 15q11-13 in two individuals with autistic disorder. J Autism Dev Disord 1994; 24: 529-535.
    • (1994) J Autism Dev Disord , vol.24 , pp. 529-535
    • Baker, P.1    Piven, J.2    Schwartz, S.3    Patil, S.4
  • 3
    • 0027935295 scopus 로고
    • Duplication of the 15q11-13 region in a patient with autism, epilepsy, and ataxia
    • 3 Bundey S, Hardy C, Vickers S, Kilpatrick M. Corbett J. Duplication of the 15q11-13 region in a patient with autism, epilepsy, and ataxia. Dev Med Child Neurol 1994; 36: 736-742.
    • (1994) Dev Med Child Neurol , vol.36 , pp. 736-742
    • Bundey, S.1    Hardy, C.2    Vickers, S.3    Kilpatrick, M.4    Corbett, J.5
  • 4
    • 0028205957 scopus 로고
    • Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome critical region: Clinical implications
    • 4 Leana-Cox J, Jenkins L, Palmer CG, Plattner R, Sheppard L, Flejter WL et al. Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome critical region: clinical implications. Am J Hum Genet 1994; 54: 748-756.
    • (1994) Am J Hum Genet , vol.54 , pp. 748-756
    • Leana-Cox, J.1    Jenkins, L.2    Palmer, C.G.3    Plattner, R.4    Sheppard, L.5    Flejter, W.L.6
  • 6
    • 0028821373 scopus 로고
    • Supernumerary marker 15 chromosomes: A clinical, molecular and FISH approach to diagnosis and prognosis
    • 6 Crolla J, Harvey J, Stitch F, Dennis N. Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis. Hum Genet 1995; 95: 161-170.
    • (1995) Hum Genet , vol.95 , pp. 161-170
    • Crolla, J.1    Harvey, J.2    Stitch, F.3    Dennis, N.4
  • 7
    • 0028959478 scopus 로고
    • A case of autism associated with partial tetrasomy 15
    • 7 Hotopf M, Bolton P. A case of autism associated with partial tetrasomy 15. J Autism Dev Disord 1995; 25: 41-49.
    • (1995) J Autism Dev Disord , vol.25 , pp. 41-49
    • Hotopf, M.1    Bolton, P.2
  • 8
    • 0030070898 scopus 로고
    • Cytogenetic and molecular analysis of inv dup(15) chromosomes observed in two patients with autistic disorder and mental retardation
    • 8 Flejter WL, Bennett-Baker PE, Ghaziuddin M, McDonald M, Sheldon S, Gorski JL. Cytogenetic and molecular analysis of inv dup(15) chromosomes observed in two patients with autistic disorder and mental retardation. Am J Med Genet 1995; 61: 182-187.
    • (1995) Am J Med Genet , vol.61 , pp. 182-187
    • Flejter, W.L.1    Bennett-Baker, P.E.2    Ghaziuddin, M.3    McDonald, M.4    Sheldon, S.5    Gorski, J.L.6
  • 12
    • 0031031570 scopus 로고    scopus 로고
    • De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3IA) in Angelman syndrome
    • 12 Matsuura T, Sutcliffe JS, Fang P, Galjaard RJ, Jiang YH, Benton CS et al. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3IA) in Angelman syndrome. Nature Genet 1997; 15: 74-77.
    • (1997) Nature Genet , vol.15 , pp. 74-77
    • Matsuura, T.1    Sutcliffe, J.S.2    Fang, P.3    Galjaard, R.J.4    Jiang, Y.H.5    Benton, C.S.6
  • 13
    • 0031012849 scopus 로고    scopus 로고
    • UBE3A/E6-AP mutations cause Angelman syndrome
    • 13 Kishino T, Lalande M, Wagstaff J. UBE3A/E6-AP mutations cause Angelman syndrome. Nature Genet 1997; 15: 70-73.
    • (1997) Nature Genet , vol.15 , pp. 70-73
    • Kishino, T.1    Lalande, M.2    Wagstaff, J.3
  • 14
    • 0031228039 scopus 로고    scopus 로고
    • The angelman syndrome candidate gene, UBE3A/E6-AP is imprinted in brain
    • 14 Rougeulle C, Glatt H. Lalande M. The Angelman syndrome candidate gene, UBE3A/E6-AP is imprinted in brain. Nature Genet 1997; 17: 14-15.
    • (1997) Nature Genet , vol.17 , pp. 14-15
    • Rougeulle, C.1    Glatt, H.2    Lalande, M.3
  • 15
    • 0031230614 scopus 로고    scopus 로고
    • Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain
    • 15 Vu TH, Hoffman AR. Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain. Nature Genet 1997; 17: 12-13.
    • (1997) Nature Genet , vol.17 , pp. 12-13
    • Vu, T.H.1    Hoffman, A.R.2
  • 16
    • 0030879482 scopus 로고    scopus 로고
    • Imprinted expression of the murine angelman syndrome gene, UBE3A, in hippocampal and Purkinje neurons
    • 16 Albrecht U, Sutcliffe JS, Cattanach BM, Beechey CV, Armstrong D, Eichele G et al. Imprinted expression of the murine Angelman syndrome gene, UBE3A, in hippocampal and Purkinje neurons. Nature Genet 1997; 17: 75-78.
    • (1997) Nature Genet , vol.17 , pp. 75-78
    • Albrecht, U.1    Sutcliffe, J.S.2    Cattanach, B.M.3    Beechey, C.V.4    Armstrong, D.5    Eichele, G.6
  • 17
    • 0000248735 scopus 로고
    • Neuroanatomic observations of the brain in autism
    • Bauman ML, Kemper TL (eds). Johns Hopkins University Press: Baltimore
    • 17 Bauman ML, Kemper TL. Neuroanatomic observations of the brain in autism. In: Bauman ML, Kemper TL (eds). The Neurobiology of Autism. Johns Hopkins University Press: Baltimore, 1994. pp 119-145.
    • (1994) The Neurobiology of Autism , pp. 119-145
    • Bauman, M.L.1    Kemper, T.L.2
  • 18
    • 0030967504 scopus 로고    scopus 로고
    • Brainstem, cerebellar, and limbic neuroanatomical abnormalities in autism
    • 18 Courchesne E. Brainstem, cerebellar, and limbic neuroanatomical abnormalities in autism. Curr Opin Neurobiol 1997; 7: 267-278.
    • (1997) Curr Opin Neurobiol , vol.7 , pp. 267-278
    • Courchesne, E.1
  • 19
    • 0022572835 scopus 로고
    • Lower Purkinje cell counts in the cerebella of four autistic subjects: Initial findings of the UCLA-NSAC autopsy research report
    • 19 Ritvo ER, Freeman BJ, Scheibel AB, Duong T, Robinson H, Guthrie D et al. Lower Purkinje cell counts in the cerebella of four autistic subjects: initial findings of the UCLA-NSAC autopsy research report. Am J Psychiatry 1986; 143: 862-866.
    • (1986) Am J Psychiatry , vol.143 , pp. 862-866
    • Ritvo, E.R.1    Freeman, B.J.2    Scheibel, A.B.3    Duong, T.4    Robinson, H.5    Guthrie, D.6
  • 21
    • 17344364660 scopus 로고    scopus 로고
    • Linkage disequilibrium mapping of autistic disorder with 15q11-13 markers
    • 21 Cook EH, Courchesne RY, Cox NJ, Lord C, Pizzo S, Gonen D et al. Linkage disequilibrium mapping of autistic disorder with 15q11-13 markers. Am J Hum Genet 1998; 62: 1077-1083.
    • (1998) Am J Hum Genet , vol.62 , pp. 1077-1083
    • Cook, E.H.1    Courchesne, R.Y.2    Cox, N.J.3    Lord, C.4    Pizzo, S.5    Gonen, D.6
  • 23
    • 0031939597 scopus 로고    scopus 로고
    • Genomic organization of the UBE3A/E6-AP gene and related pseudogenes
    • 23 Kishino T, Wagstaff J. Genomic organization of the UBE3A/E6-AP gene and related pseudogenes. Genomics 1998; 47; 101-107.
    • (1998) Genomics , vol.47 , pp. 101-107
    • Kishino, T.1    Wagstaff, J.2
  • 26
    • 0028019677 scopus 로고
    • The critical region for Angelman syndrome lies between D15S122 and D15S113
    • 26 Greger V, Reis A, Lalande M. The critical region for Angelman syndrome lies between D15S122 and D15S113. Am J Med Genet 1994; 53: 396-398.
    • (1994) Am J Med Genet , vol.53 , pp. 396-398
    • Greger, V.1    Reis, A.2    Lalande, M.3
  • 27
    • 0027997172 scopus 로고
    • Autism diagnostic interview -revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders
    • 27 Lord C, Rutter M, Le Conteur A. Autism Diagnostic Interview -Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord 1994; 24: 659-685.
    • (1994) J Autism Dev Disord , vol.24 , pp. 659-685
    • Lord, C.1    Rutter, M.2    Le Conteur, A.3
  • 28
    • 0024369122 scopus 로고
    • Autism diagnostic observation schedule: A standardized observation of communicative and social behavior
    • 28 Lord C, Rutter M, Goode S, Heemsbergen, J, Jordan H, Mawhood L et al. Autism Diagnostic Observation Schedule: a standardized observation of communicative and social behavior. J Autism Develop Disord 1989; 19: 185-212.
    • (1989) J Autism Develop Disord , vol.19 , pp. 185-212
    • Lord, C.1    Rutter, M.2    Goode, S.3    Heemsbergen, J.4    Jordan, H.5    Mawhood, L.6
  • 29
    • 0029093668 scopus 로고
    • Pre-linguistic autism diagnostic observation schedule (PL-ADOS)
    • 29 DiLavore P, Lord C, Rutter M. Pre-linguistic Autism Diagnostic Observation Schedule (PL-ADOS). J Autism Dev Disord 1995; 25: 355-379.
    • (1995) J Autism Dev Disord , vol.25 , pp. 355-379
    • DiLavore, P.1    Lord, C.2    Rutter, M.3
  • 30
    • 4243447757 scopus 로고    scopus 로고
    • UBE3A/E6-AP mutations in Angelman syndrome indicate a role for the ubiquitin pathway in brain development
    • 30 Kishino T, Lalande M, Wagstaff J. UBE3A/E6-AP mutations in Angelman syndrome indicate a role for the ubiquitin pathway in brain development. Am J Hum Genet 1997; 61: A39.
    • (1997) Am J Hum Genet , vol.61
    • Kishino, T.1    Lalande, M.2    Wagstaff, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.