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Volumn 62, Issue 5, 1998, Pages 1077-1083

Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR; DNA; RECEPTOR SUBUNIT;

EID: 17344364660     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301832     Document Type: Article
Times cited : (332)

References (60)
  • 3
    • 0029872978 scopus 로고    scopus 로고
    • Towards an integration of clinical, genetic, neuropsychological, and neurobiological perspectives
    • Bailey A, Philips W, Rutter M (1996) Towards an integration of clinical, genetic, neuropsychological, and neurobiological perspectives. J Child Psychol Psychiatry 37:89-126
    • (1996) J Child Psychol Psychiatry , vol.37 , pp. 89-126
    • Bailey, A.1    Philips, W.2    Rutter, M.3
  • 4
    • 0027934165 scopus 로고
    • Duplication of chromosome 15q11-13 in two individuals with autistic disorder
    • Baker P, Piven J, Schwartz S, Patil S (1994) Duplication of chromosome 15q11-13 in two individuals with autistic disorder. J Autism Dev Disord 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
  • 5
    • 0000248735 scopus 로고
    • Neuroanatomic observations of the brain in autism
    • Bauman ML, Kemper TL (eds) Johns Hopkins University Press, Baltimore
    • Bauman M, Kemper T (1994) Neuroanatomic observations of the brain in autism In: Bauman ML, Kemper TL (eds) The neurobiology of autism. Johns Hopkins University Press, Baltimore, pp 119-145
    • (1994) The Neurobiology of Autism , pp. 119-145
    • Bauman, M.1    Kemper, T.2
  • 7
  • 10
    • 0031937488 scopus 로고    scopus 로고
    • Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb
    • Christian S, Bhatt N, Martin S, Sutcliffe J, Kubota T, Huang B, Mutirangura A, et al (1998) Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb. Genome Res 8:146-157
    • (1998) Genome Res , vol.8 , pp. 146-157
    • Christian, S.1    Bhatt, N.2    Martin, S.3    Sutcliffe, J.4    Kubota, T.5    Huang, B.6    Mutirangura, A.7
  • 15
    • 0030967504 scopus 로고    scopus 로고
    • Brainstem, cerebellar, and limbic neuroanatomical abnormalities in autism
    • Courchesne E (1997) Brainstem, cerebellar, and limbic neuroanatomical abnormalities in autism. Curr Opin Neurobiol 7:267-278
    • (1997) Curr Opin Neurobiol , vol.7 , pp. 267-278
    • Courchesne, E.1
  • 16
    • 0028821373 scopus 로고
    • Supernumerary marker 15 chromosomes: A clinical, molecular and FISH approach to diagnosis and prognosis
    • Crolla J, Harvey J, Sitch F, Dennis N (1995) Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis. Hum Genet 95: 161-170
    • (1995) Hum Genet , vol.95 , pp. 161-170
    • Crolla, J.1    Harvey, J.2    Sitch, F.3    Dennis, N.4
  • 18
    • 0028298039 scopus 로고
    • Phenotypic consequences of deletion of the gamma 3, alpha 5, or beta 3 subunit of the type a gamma-aminobutyric acid receptor in mice
    • Culiat CT, Stubbs LJ, Montgomery CS, Russell LB, Rinchik EM (1994) Phenotypic consequences of deletion of the gamma 3, alpha 5, or beta 3 subunit of the type A gamma-aminobutyric acid receptor in mice. Proc Natl Acad Sci USA 91:2815-2818
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 2815-2818
    • Culiat, C.T.1    Stubbs, L.J.2    Montgomery, C.S.3    Russell, L.B.4    Rinchik, E.M.5
  • 19
    • 0028944305 scopus 로고
    • A note on the application of the transmission disequilibrium test when a parent is missing
    • Curtis D, Sham PC (1995) A note on the application of the transmission disequilibrium test when a parent is missing. Am J Hum Genet 56:811-812
    • (1995) Am J Hum Genet , vol.56 , pp. 811-812
    • Curtis, D.1    Sham, P.C.2
  • 20
    • 0029093668 scopus 로고
    • Pre-linguistic Autism Diagnostic Observation Schedule (PL-ADOS)
    • DiLavore P, Lord C, Rutter M (1995) Pre-linguistic Autism Diagnostic Observation Schedule (PL-ADOS). J Autism Dev Disord 25:355-379
    • (1995) J Autism Dev Disord , vol.25 , pp. 355-379
    • DiLavore, P.1    Lord, C.2    Rutter, M.3
  • 21
    • 0030070898 scopus 로고    scopus 로고
    • Cytogenetic and molecular analysis of inv dup(15) chromosomes observed in two patients with autistic disorder and mental retardation
    • Flejter WL, Bennett-Baker PE, Ghaziuddin M, McDonald M, Sheldon S, Gorski JL (1996) Cytogenetic and molecular analysis of inv dup(15) chromosomes observed in two patients with autistic disorder and mental retardation. Am J Med Genet 61:182-187
    • (1996) 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
  • 22
    • 0017530988 scopus 로고
    • Infantile autism: A genetic study of 21 twin pairs
    • Folstein S, Rutter M (1977) Infantile autism: a genetic study of 21 twin pairs. J Child Psychol Psychiatry 18:297-321
    • (1977) J Child Psychol Psychiatry , vol.18 , pp. 297-321
    • Folstein, S.1    Rutter, M.2
  • 24
    • 0031127105 scopus 로고    scopus 로고
    • Structure and organization of GABRB3 and GABRA5
    • Glatt K, Glatt H, Lalande M (1997) Structure and organization of GABRB3 and GABRA5. Genomics 41:63-69
    • (1997) Genomics , vol.41 , pp. 63-69
    • Glatt, K.1    Glatt, H.2    Lalande, M.3
  • 25
    • 0028144605 scopus 로고
    • The human gamma-aminobutyric acid receptor subunit β3 and α5 gene cluster in chromosome 15q11-q13 is rich in highly polymorphic (CA)n repeats
    • Glatt K, Sinnett D, Lalande M (1994) The human gamma-aminobutyric acid receptor subunit β3 and α5 gene cluster in chromosome 15q11-q13 is rich in highly polymorphic (CA)n repeats. Genomics 19:157-160
    • (1994) Genomics , vol.19 , pp. 157-160
    • Glatt, K.1    Sinnett, D.2    Lalande, M.3
  • 29
    • 0028959478 scopus 로고
    • A case of autism associated with partial tetrasomy 15
    • Hotopf M, Bolton P (1995) A case of autism associated with partial tetrasomy 15. J Autism Dev Disord 25:41-49
    • (1995) J Autism Dev Disord , vol.25 , pp. 41-49
    • Hotopf, M.1    Bolton, P.2
  • 30
    • 6844251000 scopus 로고    scopus 로고
    • A full genome screen for autism with evidence for linkage to a region on chromosome 7q
    • International Molecular Genetic Study of Autism Consortium (1998) A full genome screen for autism with evidence for linkage to a region on chromosome 7q. Hum Mol Genet 7: 571-578
    • (1998) Hum Mol Genet , vol.7 , pp. 571-578
  • 31
    • 0028894185 scopus 로고
    • Linkage disequilibrium as a gene-mapping tool
    • Jorde LB (1995) Linkage disequilibrium as a gene-mapping tool. Am J Hum Genet 56:11-14
    • (1995) Am J Hum Genet , vol.56 , pp. 11-14
    • Jorde, L.B.1
  • 33
    • 0027516634 scopus 로고
    • A strong promoter element is located between alternative exons of a gene encoding the human gamma-aminobutyric acid-type a receptor beta 3 subunit (GABRB3)
    • Kirkness E, Fraser C (1993) A strong promoter element is located between alternative exons of a gene encoding the human gamma-aminobutyric acid-type A receptor beta 3 subunit (GABRB3). J Biol Chem 268:4420-4428
    • (1993) J Biol Chem , vol.268 , pp. 4420-4428
    • Kirkness, E.1    Fraser, C.2
  • 34
    • 0031012849 scopus 로고    scopus 로고
    • UBE3A/E6-AP mutations cause Angelman syndrome
    • Kishino T, Lalande M, Wagstaff J (1997) UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet 15:70-73
    • (1997) Nat Genet , vol.15 , pp. 70-73
    • Kishino, T.1    Lalande, M.2    Wagstaff, J.3
  • 36
    • 0026615268 scopus 로고
    • A receptor subunit mRNAs in the rat brain. III. Embryonic and postnatal development
    • A receptor subunit mRNAs in the rat brain. III. Embryonic and postnatal development. J Neurosci 12: 4151-4172
    • (1992) J Neurosci , vol.12 , pp. 4151-4172
    • Laurie, D.1    Wisden, W.2    Seeburg, P.3
  • 37
    • 0028205957 scopus 로고
    • Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: Clinical implications
    • Leana-Cox J, Jenkins L, Palmer CG, Plattner R, Sheppard L, Flejter WL, Zackowski J, et al (1994) Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications. Am J Hum Genet 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    Zackowski, J.7
  • 39
    • 0027997172 scopus 로고
    • Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders
    • Lord C, Rutter M, Le Couteur A (1994) Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord 24:659-685
    • (1994) J Autism Dev Disord , vol.24 , pp. 659-685
    • Lord, C.1    Rutter, M.2    Le Couteur, A.3
  • 41
    • 0027988179 scopus 로고
    • A receptor subunit polypeptides increase in parallel but exhibit distinct distributions in the developing rat cerebellum
    • A receptor subunit polypeptides increase in parallel but exhibit distinct distributions in the developing rat cerebellum. J Neurobiol 25:1533-1544
    • (1994) J Neurobiol , vol.25 , pp. 1533-1544
    • Nadler, L.S.1    Guirguis, E.R.2    Siegel, R.E.3
  • 43
    • 0029134874 scopus 로고
    • Latent-class analysis of recurrence risks for complex phenotypes with selection and measurement error: A twin and family history study of autism
    • Pickles A, Bolton P, Macdonald H, Bailey A, Le Couteur A, Sim C-H, Rutter M (1995) Latent-class analysis of recurrence risks for complex phenotypes with selection and measurement error: a twin and family history study of autism. Am J Hum Genet 57:717-726
    • (1995) Am J Hum Genet , vol.57 , pp. 717-726
    • Pickles, A.1    Bolton, P.2    Macdonald, H.3    Bailey, A.4    Le Couteur, A.5    Sim, C.-H.6    Rutter, M.7
  • 47
    • 0029001828 scopus 로고
    • Sex-specific meiotic recombination in the Prader-Willi/Angelman syndrome imprinted region
    • Robinson W, Lalande M (1995) Sex-specific meiotic recombination in the Prader-Willi/Angelman syndrome imprinted region. Hum Mol Genet 4:801-806
    • (1995) Hum Mol Genet , vol.4 , pp. 801-806
    • Robinson, W.1    Lalande, M.2
  • 48
    • 8544269355 scopus 로고    scopus 로고
    • Linkage analysis between idiopathic generalized epilepsies and the GABA(A) receptor alpha5, beta3 and gamma3 subunit gene cluster on chromosome 15
    • Sander T, Kretz R, Williamson M, Elmslie F, Rees M, Hildmann T, Bianchi A, et al (1997) Linkage analysis between idiopathic generalized epilepsies and the GABA(A) receptor alpha5, beta3 and gamma3 subunit gene cluster on chromosome 15. Acta Neurol Scand 96:1-7
    • (1997) Acta Neurol Scand , vol.96 , pp. 1-7
    • Sander, T.1    Kretz, R.2    Williamson, M.3    Elmslie, F.4    Rees, M.5    Hildmann, T.6    Bianchi, A.7
  • 50
    • 0030977686 scopus 로고    scopus 로고
    • Genetic influences in childhood-onset psychiatric disorders: Autism and attention-deficit/hyperactivity disorder
    • Smalley SL (1997) Genetic influences in childhood-onset psychiatric disorders: autism and attention-deficit/hyperactivity disorder. Am J Hum Genet 60:1276-1282
    • (1997) Am J Hum Genet , vol.60 , pp. 1276-1282
    • Smalley, S.L.1
  • 54
    • 0029858544 scopus 로고    scopus 로고
    • The TDT and other family-based tests for linkage disequilibrium and association
    • Spielman RS, Ewens WJ (1996) The TDT and other family-based tests for linkage disequilibrium and association. Am J Hum Genet 59:983-989
    • (1996) Am J Hum Genet , vol.59 , pp. 983-989
    • Spielman, R.S.1    Ewens, W.J.2
  • 55
    • 0027377799 scopus 로고
    • Transmission test for linkage disequilibrium: The insulin gene region and insulin-dependent diabetes mellitus (IDDM)
    • Spielman RS, McGinnis RE, Ewens WJ (1993) Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 52:506-516
    • (1993) Am J Hum Genet , vol.52 , pp. 506-516
    • Spielman, R.S.1    McGinnis, R.E.2    Ewens, W.J.3
  • 57
    • 0030890115 scopus 로고    scopus 로고
    • The E6-AP ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region
    • Sutcliffe J, Jiang Y-H, Galjaard R-J, Matsuura T, Fang P, Kubota T, Christian S, et al (1997) The E6-AP ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region. Genome Res 7:368-377
    • (1997) Genome Res , vol.7 , pp. 368-377
    • Sutcliffe, J.1    Jiang, Y.-H.2    Galjaard, R.-J.3    Matsuura, T.4    Fang, P.5    Kubota, T.6    Christian, S.7
  • 60
    • 0026612363 scopus 로고
    • A receptor subunit mRNAs in the rat brain. I. Telencephalon, diencephalon, mesencephalon
    • A receptor subunit mRNAs in the rat brain. I. Telencephalon, diencephalon, mesencephalon. J Neurosci 12:1040-1062
    • (1992) J Neurosci , vol.12 , pp. 1040-1062
    • Wisden, W.1    Laurie, D.2    Monyer, M.3    Seeburg, P.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.