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Volumn 147, Issue 7, 2008, Pages 1008-1012

Association study of the 15q11-q13 maternal expression domain in Japanese autistic patients

Author keywords

Angelman syndrome; Autism; Chromosome 15; Genomic imprinting; SNURF

Indexed keywords

ADULT; ARTICLE; ATP10C GENE; AUTISM; CHROMOSOME 15Q; CONTROLLED STUDY; FEMALE; GENE; GENE EXPRESSION; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENOME IMPRINTING; GENOTYPE; HAPLOTYPE; HUMAN; JAPANESE; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; UBE3A GENE;

EID: 55349103800     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.30690     Document Type: Article
Times cited : (12)

References (25)
  • 3
    • 0035336299 scopus 로고    scopus 로고
    • The Prader-Willi syndrome imprinting center activates the paternally expressed murine Ube3a antisense transcript but represses paternal Ube3a
    • Chamberlain SJ, Brannan CI. 2001. The Prader-Willi syndrome imprinting center activates the paternally expressed murine Ube3a antisense transcript but represses paternal Ube3a. Genomics 73:316-322.
    • (2001) Genomics , vol.73 , pp. 316-322
    • Chamberlain, S.J.1    Brannan, C.I.2
  • 4
    • 0028365522 scopus 로고
    • Robust amplification and ethidium-visible detection of the fragile X syndrome CGG repeat using Pfu polymerase
    • Chong SS, Eichler EE, Nelson DL, Hughes MR. 1994. Robust amplification and ethidium-visible detection of the fragile X syndrome CGG repeat using Pfu polymerase. Am J Med Genet 51:522-526.
    • (1994) Am J Med Genet , vol.51 , pp. 522-526
    • Chong, S.S.1    Eichler, E.E.2    Nelson, D.L.3    Hughes, M.R.4
  • 7
    • 0029130796 scopus 로고
    • Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population
    • Excoffier L, Slatkin M. 1995. Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population. Mol Biol Evol 12:921-927.
    • (1995) Mol Biol Evol , vol.12 , pp. 921-927
    • Excoffier, L.1    Slatkin, M.2
  • 8
    • 0035154452 scopus 로고    scopus 로고
    • Genetic analysis of case/control data using estimated haplotype frequencies: Application to APOE locus variation and Alzheimer's disease
    • Fallin D, Cohen A, Essioux L, Chumakov I, Blumenfeld M, Cohen D, Schork NJ. 2001. Genetic analysis of case/control data using estimated haplotype frequencies: Application to APOE locus variation and Alzheimer's disease. Genome Res 11:143-151.
    • (2001) Genome Res , vol.11 , pp. 143-151
    • Fallin, D.1    Cohen, A.2    Essioux, L.3    Chumakov, I.4    Blumenfeld, M.5    Cohen, D.6    Schork, N.J.7
  • 10
    • 0035653670 scopus 로고    scopus 로고
    • Genetics of autism: Complex aetiology for a heterogeneous disorder
    • Folstein SE, Rosen-Sheidley B. 2001. Genetics of autism: Complex aetiology for a heterogeneous disorder. Nat Rev Genet 2:943-955.
    • (2001) Nat Rev Genet , vol.2 , pp. 943-955
    • Folstein, S.E.1    Rosen-Sheidley, B.2
  • 11
    • 33845797961 scopus 로고    scopus 로고
    • The genetics of autistic disorders and its clinical relevance: A review of the literature
    • Freitag CM. 2007. The genetics of autistic disorders and its clinical relevance: A review of the literature. Mol Psychiatry 12:2-22.
    • (2007) Mol Psychiatry , vol.12 , pp. 2-22
    • Freitag, C.M.1
  • 13
    • 0034991011 scopus 로고    scopus 로고
    • The human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression
    • Herzing LB, Kim SJ, Cook EH Jr, Ledbetter DH. 2001. The human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression. Am J Hum Genet 68:1501-1505.
    • (2001) Am J Hum Genet , vol.68 , pp. 1501-1505
    • Herzing, L.B.1    Kim, S.J.2    Cook Jr, E.H.3    Ledbetter, D.H.4
  • 14
    • 7644228489 scopus 로고    scopus 로고
    • The usefulness of the child behavior questionnaire revised (CBQ-R) as a supplementary scale for diagnosis of pervasive developmental disorders
    • Japanese
    • Izutsu T, Osada H, Tachimori H, Naganuma Y, Kato S, Kurita H. 2001. The usefulness of the child behavior questionnaire revised (CBQ-R) as a supplementary scale for diagnosis of pervasive developmental disorders. Rinsyo-Seishin Igaku 30:525-532 (Japanese).
    • (2001) Rinsyo-Seishin Igaku , vol.30 , pp. 525-532
    • Izutsu, T.1    Osada, H.2    Tachimori, H.3    Naganuma, Y.4    Kato, S.5    Kurita, H.6
  • 16
    • 30844442607 scopus 로고    scopus 로고
    • The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C
    • Kishore S, Stamm S. 2006. The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C. Science 311:230-232.
    • (2006) Science , vol.311 , pp. 230-232
    • Kishore, S.1    Stamm, S.2
  • 17
    • 0024619007 scopus 로고
    • Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion
    • Knoll JH, Nocholls RD, Magenis RE, Graham JM Jr, Lalande M, Latt SA. 1989. Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. Am J Med Genet 32:285-290.
    • (1989) Am J Med Genet , vol.32 , pp. 285-290
    • Knoll, J.H.1    Nocholls, R.D.2    Magenis, R.E.3    Graham Jr, J.M.4    Lalande, M.5    Latt, S.A.6
  • 18
    • 0000686152 scopus 로고
    • The interaction of selection and linkage. I. General considerations; heterotic models
    • Lewontin RC. 1964. The interaction of selection and linkage. I. General considerations; heterotic models. Genetics 120:849-852.
    • (1964) Genetics , vol.120 , pp. 849-852
    • Lewontin, R.C.1
  • 19
    • 0024369122 scopus 로고
    • Autism diagnostic observation schedule: A standardized observation of communicative and social behavior
    • Lord C, Rutter M, Goode S, Heemsbergen J, Jordan H, Mawhood L, et al. 1989. Autism diagnostic observation schedule: A standardized observation of communicative and social behavior. J Autism Dev Disord 19:185-212.
    • (1989) J Autism Dev Disord , vol.19 , pp. 185-212
    • Lord, C.1    Rutter, M.2    Goode, S.3    Heemsbergen, J.4    Jordan, H.5    Mawhood, L.6
  • 20
    • 0027997172 scopus 로고
    • Autismdiagnostic 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. Autismdiagnostic 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
  • 23
    • 0035509699 scopus 로고    scopus 로고
    • The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A
    • Runte M, Huttenhofer A, Gross S, Kiefmann M, Horsthemke B, Buiting K. 2001. The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A. Hum Mol Genet 10:2687-2700.
    • (2001) Hum Mol Genet , vol.10 , pp. 2687-2700
    • Runte, M.1    Huttenhofer, A.2    Gross, S.3    Kiefmann, M.4    Horsthemke, B.5    Buiting, K.6
  • 25
    • 0036844238 scopus 로고    scopus 로고
    • Distribution of recombination crossovers and the origin of haplotype blocks: The interplay of population history, recombination, and mutation
    • Wang N, Akey JM, Zhang K, Chakraborty R, Jin L. 2002. Distribution of recombination crossovers and the origin of haplotype blocks: The interplay of population history, recombination, and mutation. Am J Hum Genet 71:1227-1234.
    • (2002) Am J Hum Genet , vol.71 , pp. 1227-1234
    • Wang, N.1    Akey, J.M.2    Zhang, K.3    Chakraborty, R.4    Jin, L.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.