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Volumn 18, Issue 3, 2008, Pages 133-136

Association study of the commonly recognized breakpoints in chromosome 15q11-q13 in Japanese autistic patients

Author keywords

Amyloid precursor protein binding protein A2; Angelman syndrome; Autism; Breakpoint; Chromosome 15; Prader Willi syndrome

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTISM; CHROMOSOME 15Q; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENOTYPE; HAPLOTYPE; HUMAN; JAPANESE; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; ASIAN; CASE CONTROL STUDY; CHROMOSOME 15; CHROMOSOME BREAKAGE; GENE LINKAGE DISEQUILIBRIUM; GENETIC PREDISPOSITION; GENETICS; JAPAN;

EID: 49049116003     PISSN: 09558829     EISSN: None     Source Type: Journal    
DOI: 10.1097/YPG.0b013e3282fb0064     Document Type: Article
Times cited : (2)

References (17)
  • 1
    • 0034704089 scopus 로고    scopus 로고
    • Mints as adaptors. Direct binding to neurexins and recruitment of munc 8
    • Biederer T, Sudhof TC (2000). Mints as adaptors. Direct binding to neurexins and recruitment of munc 8. J Biol Chem 275:39803-39806.
    • (2000) J Biol Chem , vol.275 , pp. 39803-39806
    • Biederer, T.1    Sudhof, T.C.2
  • 2
    • 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
  • 3
    • 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
  • 4
    • 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, et al. (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
  • 5
    • 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
  • 6
    • 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
  • 8
    • 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
  • 9
    • 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
  • 10
    • 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
  • 11
    • 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
  • 12
    • 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
  • 13
    • 9444274771 scopus 로고    scopus 로고
    • Autism in Angelman syndrome: Implication for autism research
    • Peters S, Beaudet A, Madduri N, Bacino C (2004). Autism in Angelman syndrome: implication for autism research. Clin Genet 66:530-536.
    • (2004) Clin Genet , vol.66 , pp. 530-536
    • Peters, S.1    Beaudet, A.2    Madduri, N.3    Bacino, C.4
  • 14
    • 9444224973 scopus 로고    scopus 로고
    • Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplication structures
    • Sutcliffe JS, Han MK, Amin T, Kesterson RA, Nurmi EL (2003). Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplication structures. BMC Genomics 4:15.
    • (2003) BMC Genomics , vol.4 , pp. 15
    • Sutcliffe, J.S.1    Han, M.K.2    Amin, T.3    Kesterson, R.A.4    Nurmi, E.L.5
  • 16
    • 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
  • 17
    • 3242710286 scopus 로고    scopus 로고
    • High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage
    • Wang NJ, Liu D, Parokonny AS, Schanen NC (2004). High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage. Am J Hum Genet 75:267-281.
    • (2004) Am J Hum Genet , vol.75 , pp. 267-281
    • Wang, N.J.1    Liu, D.2    Parokonny, A.S.3    Schanen, N.C.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.