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Volumn , Issue , 2005, Pages

Introduction

Author keywords

Asperger syndrome; Autism; Autistic symptoms; Chromosomal disorders; Genes; Nosology

Indexed keywords


EID: 84920383756     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1093/acprof:oso/9780195182224.003.0001     Document Type: Editorial
Times cited : (7)

References (145)
  • 1
    • 0027300283 scopus 로고
    • Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain
    • Abitbol M, Menini C, Delezoide AL, Rhyner T, Vekemans M, Mallet J (1993) Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain. Nature Genetics 4147-153.
    • (1993) Nature Genetics , vol.4 , pp. 147-153
    • Abitbol, M.1    Menini, C.2    Delezoide, A.L.3    Rhyner, T.4    Vekemans, M.5    Mallet, J.6
  • 3
    • 0032830639 scopus 로고    scopus 로고
    • Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
    • Amir RE, Van den Veyver IB, Wan M, Tran CO, Franke U, Zoghi HY (1999) Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nature Genetics 26185:185-188.
    • (1999) Nature Genetics , vol.26 , Issue.185 , pp. 185-188
    • Amir, R.E.1    Van Den Veyver, I.B.2    Wan, M.3    Tran, C.O.4    Franke, U.5    Zoghi, H.Y.6
  • 5
    • 7144253119 scopus 로고    scopus 로고
    • Brief report: a case of chromosome 22 alteration associated with autistic syndrome
    • Assumpcao FB Jr. (1998) Brief report: a case of chromosome 22 alteration associated with autistic syndrome. Journal of Autism and Developmental Disorders 28:253-256.
    • (1998) Journal of Autism and Developmental Disorders , vol.28 , pp. 253-256
    • Assumpcao, F.B.1
  • 9
    • 0642371334 scopus 로고    scopus 로고
    • Investigation of white matter structure in velocardiofacial syndrome: a diffusion tensor imaging study
    • Barnea-Goraly N, Menon V, Krasnow B, Ko A, Reiss A, Eliez S (2003b) Investigation of white matter structure in velocardiofacial syndrome: a diffusion tensor imaging study. American Journal of Psychiatry 160:1863-1869.
    • (2003) American Journal of Psychiatry , vol.160 , pp. 1863-1869
    • Barnea-Goraly, N.1    Menon, V.2    Krasnow, B.3    Ko, A.4    Reiss, A.5    Eliez, S.6
  • 17
    • 1542284674 scopus 로고    scopus 로고
    • Linkage analysis for autism in a subset of families with obsessive-compulsive behaviors: evidence for an autism susceptibility gene on chromosome 1 and further support for susceptibility genes on chromosome 6 and 19
    • Buxbaum JD, Silverman J, Keddache M, Smith CJ, Hollander E, Ramoz N, Reichert JG (2004) Linkage analysis for autism in a subset of families with obsessive-compulsive behaviors: evidence for an autism susceptibility gene on chromosome 1 and further support for susceptibility genes on chromosome 6 and 19. Molecular Psychiatry 9:144-150.
    • (2004) Molecular Psychiatry , vol.9 , pp. 144-150
    • Buxbaum, J.D.1    Silverman, J.2    Keddache, M.3    Smith, C.J.4    Hollander, E.5    Ramoz, N.6    Reichert, J.G.7
  • 23
    • 3543136466 scopus 로고    scopus 로고
    • Disorder-associated mutations lead to functional inactivation of neuroligins
    • Chih B, Afridi SK, Clark L, Scheiffele P (2004) Disorder-associated mutations lead to functional inactivation of neuroligins. Human Molecular Genetics 13:1471-1477.
    • (2004) Human Molecular Genetics , vol.13 , pp. 1471-1477
    • Chih, B.1    Afridi, S.K.2    Clark, L.3    Scheiffele, P.4
  • 25
    • 0031736092 scopus 로고    scopus 로고
    • Imaging epileptogenic tubers in children with tuberous sclerosis complex using alpha-[11C]methyl-L-tryptophan positron emission tomography
    • Chugani DC, Chugani HT, Muzik O, Shah JR, Shah AK, Canady A, Mangner TJ, Chakraborty PK (1998) Imaging epileptogenic tubers in children with tuberous sclerosis complex using alpha-[11C]methyl-L-tryptophan positron emission tomography. Annals of Neurology 44:858-866.
    • (1998) Annals of Neurology , vol.44 , pp. 858-866
    • Chugani, D.C.1    Chugani, H.T.2    Muzik, O.3    Shah, J.R.4    Shah, A.K.5    Canady, A.6    Mangner, T.J.7    Chakraborty, P.K.8
  • 28
    • 0003704336 scopus 로고
    • Amsterdam: North-Holland Publishing Company
    • Coleman M (Ed) (1976) The Autistic Syndromes. Amsterdam: North-Holland Publishing Company.
    • (1976) The Autistic Syndromes
    • Coleman, M.1
  • 29
    • 0028126549 scopus 로고
    • Second trimester of gestation: a time of risk for classical autism?
    • Coleman M (1994) Second trimester of gestation: a time of risk for classical autism? Developmental Brain Dysfunction 7:104-109.
    • (1994) Developmental Brain Dysfunction , vol.7 , pp. 104-109
    • Coleman, M.1
  • 41
    • 0035176185 scopus 로고    scopus 로고
    • Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome: a preliminary study
    • Eliez S, Antonarakis SE, Morris MA, Dahoun SP, Reiss AL (2001a) Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome: a preliminary study. Archives of General Psychiatry 58:64-68.
    • (2001) Archives of General Psychiatry , vol.58 , pp. 64-68
    • Eliez, S.1    Antonarakis, S.E.2    Morris, M.A.3    Dahoun, S.P.4    Reiss, A.L.5
  • 42
    • 0035746371 scopus 로고    scopus 로고
    • Functional brain imaging study of mathematical reasoning abilities in velocardiofacial syndrome (del22q11.2)
    • Eliez S, Blasey CM, Menon V, White CD, Schmitt JE, Reiss AL (2001b) Functional brain imaging study of mathematical reasoning abilities in velocardiofacial syndrome (del22q11.2) Genetic Medicine 3:49-55.
    • (2001) Genetic Medicine , vol.3 , pp. 49-55
    • Eliez, S.1    Blasey, C.M.2    Menon, V.3    White, C.D.4    Schmitt, J.E.5    Reiss, A.L.6
  • 43
  • 44
    • 0035869620 scopus 로고    scopus 로고
    • A quantitative MRI study of posterior fossa development in velocardiofacial syndrome
    • Eliez S, Schmitt JE, White CD, Wellis VG, Reiss Al (2001c) A quantitative MRI study of posterior fossa development in velocardiofacial syndrome. Biological Psychiatry 49:540-546.
    • (2001) Biological Psychiatry , vol.49 , pp. 540-546
    • Eliez, S.1    Schmitt, J.E.2    White, C.D.3    Wellis, V.G.4    Al, R.5
  • 45
    • 0037084412 scopus 로고    scopus 로고
    • Psychiatric disorders and behavioral problems in children with velocardiofacial syndrome: usefulness as phenotypic indicators of schizophrenia risk
    • Feinstein C, Eliez S, Blasey C, Reiss AL (2002) Psychiatric disorders and behavioral problems in children with velocardiofacial syndrome: usefulness as phenotypic indicators of schizophrenia risk. Biological Psychiatry 15:312-318.
    • (2002) Biological Psychiatry , vol.15 , pp. 312-318
    • Feinstein, C.1    Eliez, S.2    Blasey, C.3    Reiss, A.L.4
  • 48
    • 0036592842 scopus 로고    scopus 로고
    • Mitochondrial dysfunction in patients with hypotonia, epilepsy, autism and developmental delay: HEADD syndrome
    • Fillano JJ, Goldenthal MJ, Rhodes CH, Marin-Garcia J (2002) Mitochondrial dysfunction in patients with hypotonia, epilepsy, autism and developmental delay: HEADD syndrome. Journal of Child Neurology 17:435-439.
    • (2002) Journal of Child Neurology , vol.17 , pp. 435-439
    • Fillano, J.J.1    Goldenthal, M.J.2    Rhodes, C.H.3    Marin-Garcia, J.4
  • 49
    • 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. Nature Reviews Genetics 2:943-955.
    • (2001) Nature Reviews Genetics , vol.2 , pp. 943-955
    • Folstein, S.E.1    Rosen-Sheidley, B.2
  • 51
    • 1542366430 scopus 로고    scopus 로고
    • Here's looking at you, kid: neural systems underlying face and gaze processing in fragile X syndrome
    • Garrett AS, Menon V, MacKenzie K, Reiss AL (2004) Here's looking at you, kid: neural systems underlying face and gaze processing in fragile X syndrome. Archives of General Psychiatry 61:281-288.
    • (2004) Archives of General Psychiatry , vol.61 , pp. 281-288
    • Garrett, A.S.1    Menon, V.2    MacKenzie, K.3    Reiss, A.L.4
  • 52
  • 53
    • 0003491375 scopus 로고    scopus 로고
    • London: Cambridge University Press. a: chapter 12. Epilepsy and electrophysiology; b: chapter 9. Neuropsychology in autism and spectrum disorders. c: chapter 15. The genetics of autism
    • Gillberg C, Coleman M (2000) The Biology of the Autistic Syndromes. London: Cambridge University Press. a: chapter 12. Epilepsy and electrophysiology; b: chapter 9. Neuropsychology in autism and spectrum disorders. c: chapter 15. The genetics of autism.
    • (2000) The Biology of the Autistic Syndromes
    • Gillberg, C.1    Coleman, M.2
  • 55
    • 0021932002 scopus 로고
    • Chromosomal abnormalities in infantile autism and other childhood psychoses: a population study of 66 cases
    • Gillberg C, Wahlstrom J (1985) Chromosomal abnormalities in infantile autism and other childhood psychoses: a population study of 66 cases. Developmental Medicine and Child Neurology 27:293-304.
    • (1985) Developmental Medicine and Child Neurology , vol.27 , pp. 293-304
    • Gillberg, C.1    Wahlstrom, J.2
  • 57
    • 0842282690 scopus 로고    scopus 로고
    • Alpha-synuclein in Parkinson's disease: light from two new angles
    • Golbe LI, Mouradian MM (2004) Alpha-synuclein in Parkinson's disease: light from two new angles. Annals of Neurology 55:153-156.
    • (2004) Annals of Neurology , vol.55 , pp. 153-156
    • Golbe, L.I.1    Mouradian, M.M.2
  • 60
    • 2942619959 scopus 로고    scopus 로고
    • Syndromic cortical dysplasias: a review
    • Barth PG (Ed), London: Mac Keith Press
    • Hennekam RCM, Barth PG (2003) Syndromic cortical dysplasias: a review. In Barth PG (Ed) Disorders of Neuronal Migration London: Mac Keith Press.
    • (2003) Disorders of Neuronal Migration
    • Hennekam, R.C.M.1    Barth, P.G.2
  • 61
    • 0037098954 scopus 로고    scopus 로고
    • Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11-q13 duplications
    • Herzing LB, Cook EH Jr, Ledbetter DH (2002) Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11-q13 duplications. Human Molecular Genetics 11:1707-1718.
    • (2002) Human Molecular Genetics , vol.11 , pp. 1707-1718
    • Herzing, L.B.1    Cook, E.H.2    Ledbetter, D.H.3
  • 62
    • 0034991011 scopus 로고    scopus 로고
    • The human aminophospholipidtransporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression
    • Herzing LB, Kim S, Cook EH Jr, Ledbetter D (2001) The human aminophospholipidtransporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression. American Journal of Human Genetics 68:1501-1505.
    • (2001) American Journal of Human Genetics , vol.68 , pp. 1501-1505
    • Herzing, L.B.1    Kim, S.2    Cook, E.H.3    Ledbetter, D.4
  • 63
    • 1542316166 scopus 로고    scopus 로고
    • Monozygotic twins with tuberous sclerosis discordant for the severity of developmental deficits
    • Humphrey A, Higgins JN, Yates JR, Bolton PF (2004) Monozygotic twins with tuberous sclerosis discordant for the severity of developmental deficits. Neurology 9:795-798.
    • (2004) Neurology , vol.9 , pp. 795-798
    • Humphrey, A.1    Higgins, J.N.2    Yates, J.R.3    Bolton, P.F.4
  • 64
    • 0025342629 scopus 로고
    • Autism is one of several disabilities in two children with congenital cytomegalovirus infection
    • Ivarsson SA, Bjerre I, Vegfors P, Ahlfors K (1990) Autism is one of several disabilities in two children with congenital cytomegalovirus infection. Neuropediatrics 21:102-103.
    • (1990) Neuropediatrics , vol.21 , pp. 102-103
    • Ivarsson, S.A.1    Bjerre, I.2    Vegfors, P.3    Ahlfors, K.4
  • 65
    • 0020964038 scopus 로고
    • Observed prevalence of multiple developmental disabilities
    • Jacobson JW, Janicki MP (1983) Observed prevalence of multiple developmental disabilities. Mental Retardation 21:87-94.
    • (1983) Mental Retardation , vol.21 , pp. 87-94
    • Jacobson, J.W.1    Janicki, M.P.2
  • 66
    • 0021645906 scopus 로고
    • An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids
    • Jaeken J, Van den Berghe G (1984) An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids. Lancet 2:1058-1061.
    • (1984) Lancet , vol.2 , pp. 1058-1061
    • Jaeken, J.1    Van Den Berghe, G.2
  • 69
    • 1242317114 scopus 로고    scopus 로고
    • Clinical disorders of brain plasticity
    • Johnston MV (2004) Clinical disorders of brain plasticity. Brain Development 26:73-80.
    • (2004) Brain Development , vol.26 , pp. 73-80
    • Johnston, M.V.1
  • 72
    • 0000984981 scopus 로고
    • Autistic disturbances of affective contact
    • Kanner L (1943) Autistic disturbances of affective contact. Nervous Child 2:217-250.
    • (1943) Nervous Child , vol.2 , pp. 217-250
    • Kanner, L.1
  • 73
    • 0015038274 scopus 로고
    • Follow-up study of eleven children originally reported in 1943
    • Kanner L (1971) Follow-up study of eleven children originally reported in 1943. Journal of Autism and Childhood Schizophrenia 1:119-145.
    • (1971) Journal of Autism and Childhood Schizophrenia , vol.1 , pp. 119-145
    • Kanner, L.1
  • 74
    • 10744222257 scopus 로고    scopus 로고
    • Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation
    • Kato M, Das S, Petras K, Kitamura K, Morohashi K, Abuelo DN et al. (2004) Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Human Mutations 23:147-159.
    • (2004) Human Mutations , vol.23 , pp. 147-159
    • Kato, M.1    Das, S.2    Petras, K.3    Kitamura, K.4    Morohashi, K.5    Abuelo, D.N.6
  • 75
    • 1242286110 scopus 로고    scopus 로고
    • Associated medical disorders and disabilities in children with autistic disorder: a population-based study
    • Kielinen M, Rantala H, Timonen E, Linna S-L, Moilanen I (2004) Associated medical disorders and disabilities in children with autistic disorder: a population-based study. Autism 8:49-60.
    • (2004) Autism , vol.8 , pp. 49-60
    • Kielinen, M.1    Rantala, H.2    Timonen, E.3    Linna, S.-L.4    Moilanen, I.5
  • 77
    • 0032495953 scopus 로고    scopus 로고
    • On cognitive variability in velocardiofacial syndrome: profound mental retardation and autism
    • Kozma C (1998) On cognitive variability in velocardiofacial syndrome: profound mental retardation and autism. American Journal of Medical Genetics 81:269-270.
    • (1998) American Journal of Medical Genetics , vol.81 , pp. 269-270
    • Kozma, C.1
  • 78
    • 2542481314 scopus 로고    scopus 로고
    • The major form of MECP2 has a novel N-terminus generated by alternative splicing
    • Kriaucionis S, Bird A (2004) The major form of MECP2 has a novel N-terminus generated by alternative splicing. Nucleic Acids Research 32:1818-1823.
    • (2004) Nucleic Acids Research , vol.32 , pp. 1818-1823
    • Kriaucionis, S.1    Bird, A.2
  • 81
    • 0027992315 scopus 로고
    • Serum serotonin, lactate and pyruvate levels in infantile autistic children
    • Laszlo A, Horvath E, Eck E, Feket M (1994) Serum serotonin, lactate and pyruvate levels in infantile autistic children. Clinical Chimica Acta 229:205-207.
    • (1994) Clinical Chimica Acta , vol.229 , pp. 205-207
    • Laszlo, A.1    Horvath, E.2    Eck, E.3    Feket, M.4
  • 83
    • 0033013602 scopus 로고    scopus 로고
    • Infantile autism and associated autosomal chromosome abnormalities: a register-based study and a literature survey
    • Lauritsen M, Mors O, Mortensen PB, Ewald H (1999) Infantile autism and associated autosomal chromosome abnormalities: a register-based study and a literature survey. Journal of Child Psychology and Psychiatry 40:335-345.
    • (1999) Journal of Child Psychology and Psychiatry , vol.40 , pp. 335-345
    • Lauritsen, M.1    Mors, O.2    Mortensen, P.B.3    Ewald, H.4
  • 84
    • 84920497874 scopus 로고    scopus 로고
    • Searching for alternative phenotypes in psychiatric genetics
    • Leboyer M, Bellivier F (Eds), Totowa, New Jersey: Humana Press
    • Leboyer M (2003) Searching for alternative phenotypes in psychiatric genetics. In Leboyer M, Bellivier F (Eds) Psychiatric Genetics: methods and reviews. Totowa, New Jersey: Humana Press.
    • (2003) Psychiatric Genetics: methods and reviews
    • Leboyer, M.1
  • 86
    • 0031748285 scopus 로고    scopus 로고
    • Autism: a mitochondrial disorder?
    • Lombard J (1998) Autism: a mitochondrial disorder? Medical Hypotheses 50:497-500.
    • (1998) Medical Hypotheses , vol.50 , pp. 497-500
    • Lombard, J.1
  • 91
    • 0034703346 scopus 로고    scopus 로고
    • Functional brain activation during cognition is related to FMR1 gene expression
    • Menon V, Kwon H, Eliez S, Taylor AK, Reiss AL (2000) Functional brain activation during cognition is related to FMR1 gene expression. Brain Research 877:367-370.
    • (2000) Brain Research , vol.877 , pp. 367-370
    • Menon, V.1    Kwon, H.2    Eliez, S.3    Taylor, A.K.4    Reiss, A.L.5
  • 92
    • 1242263492 scopus 로고    scopus 로고
    • The broad autism phenotype: findings from an epidemiological study
    • Micali N, Chakrabarti S, Fombonne E (2004) The broad autism phenotype: findings from an epidemiological study. Autism 8:21-37.
    • (2004) Autism , vol.8 , pp. 21-37
    • Micali, N.1    Chakrabarti, S.2    Fombonne, E.3
  • 94
    • 0029988750 scopus 로고    scopus 로고
    • Brief report: Brain mechanism in autism: functional and structural abnormalities
    • Minshew NJ (1996) Brief report: Brain mechanism in autism: functional and structural abnormalities. Journal of Autism and Developmental Disorders 26:205-209.
    • (1996) Journal of Autism and Developmental Disorders , vol.26 , pp. 205-209
    • Minshew, N.J.1
  • 95
    • 0027337120 scopus 로고
    • A preliminary 31P MRS study of autism: evidence for undersynthesis and increased degradation of brain membranes
    • Minshew NJ, Goldstein G, Dombrowski SM, Panchalingam K, Pettegrew JW (1993) A preliminary 31P MRS study of autism: evidence for undersynthesis and increased degradation of brain membranes. Biological Psychiatry 33:762-773.
    • (1993) Biological Psychiatry , vol.33 , pp. 762-773
    • Minshew, N.J.1    Goldstein, G.2    Dombrowski, S.M.3    Panchalingam, K.4    Pettegrew, J.W.5
  • 100
    • 0036185526 scopus 로고    scopus 로고
    • Genetic effects on human cognition: lessons from the study of mental retardation syndromes
    • Nokelainen P, Flint J (2002) Genetic effects on human cognition: lessons from the study of mental retardation syndromes. Journal of Neurology Neurosurgery and Psychiatry 72:287-296.
    • (2002) Journal of Neurology Neurosurgery and Psychiatry , vol.72 , pp. 287-296
    • Nokelainen, P.1    Flint, J.2
  • 103
    • 0348127990 scopus 로고    scopus 로고
    • Neurodegeneration and prospects for neuroprotection and rescue in Parkinson's disease
    • Supplement
    • Olanow CW (Ed) (2003) Neurodegeneration and prospects for neuroprotection and rescue in Parkinson's disease. Annals of Neurology, Supplement 3:S1-S170.
    • (2003) Annals of Neurology , vol.3 , pp. S1-S170
    • Olanow, C.W.1
  • 105
    • 0030869190 scopus 로고    scopus 로고
    • Macrocephaly, epilepsy, autism, dysmorphic features, and mental retardation in two sisters: a new autosomal recessive syndrome?
    • Orstavik KH, Stromme P, Ek J, Torvik A, Skjeldal OH (1997) Macrocephaly, epilepsy, autism, dysmorphic features, and mental retardation in two sisters: a new autosomal recessive syndrome? Journal of Medical Genetics 34:849-851.
    • (1997) Journal of Medical Genetics , vol.34 , pp. 849-851
    • Orstavik, K.H.1    Stromme, P.2    Ek, J.3    Torvik, A.4    Skjeldal, O.H.5
  • 106
    • 0029134874 scopus 로고
    • Latent-class analysis of recurrence risk for complex phenotypes with selection and measurement error: twin and family history of autism
    • Pickles A, Bolton P, Macdonald H, Bailey A, Le Couteur A, Sim CH, Rutter M (1995) Latent-class analysis of recurrence risk for complex phenotypes with selection and measurement error: twin and family history of autism. American Journal of Human Genetics 57:717-726.
    • (1995) American Journal of Human Genetics , 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
  • 108
    • 0033998542 scopus 로고    scopus 로고
    • Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype
    • Prasad C, Prasad AN, Chodirker BN, Lee C, Dawson A, Jocelyn LJ, Chudley A (2000) Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype. Clinical Genetics 57:103-109.
    • (2000) Clinical Genetics , vol.57 , pp. 103-109
    • Prasad, C.1    Prasad, A.N.2    Chodirker, B.N.3    Lee, C.4    Dawson, A.5    Jocelyn, L.J.6    Chudley, A.7
  • 110
    • 0033911258 scopus 로고    scopus 로고
    • Critical periods of vulnerability for the developing nervous system: evidence from humans and animal models
    • Rice D, Barone S Jr (2000) Critical periods of vulnerability for the developing nervous system: evidence from humans and animal models. Environmental Health Perspectives 108:511-533.
    • (2000) Environmental Health Perspectives , vol.108 , pp. 511-533
    • Rice, D.1    Barone, S.2
  • 112
    • 0031660251 scopus 로고    scopus 로고
    • Autistic symptoms among children and young adults with isodicentric chromosome 15
    • Rineer S, Finucane B, Simon EW (1998) Autistic symptoms among children and young adults with isodicentric chromosome 15. American Journal of Medical Genetics 81: 428-433.
    • (1998) American Journal of Medical Genetics , vol.81 , pp. 428-433
    • Rineer, S.1    Finucane, B.2    Simon, E.W.3
  • 115
    • 0030765761 scopus 로고    scopus 로고
    • Minor malformations and physical measurements in autism: data from Nova Scotia
    • Rodier PM, Bryson SE, Welch JP (1997a) Minor malformations and physical measurements in autism: data from Nova Scotia. Teratology 55:319-325.
    • (1997) Teratology , vol.55 , pp. 319-325
    • Rodier, P.M.1    Bryson, S.E.2    Welch, J.P.3
  • 118
    • 0000526929 scopus 로고
    • Studies on 5-hydroxyindole metabolism in autistic and other mentally retarded children
    • Schain R, Freedman DX (1961) Studies on 5-hydroxyindole metabolism in autistic and other mentally retarded children. Journal of Pediatrics 58:315-320.
    • (1961) Journal of Pediatrics , vol.58 , pp. 315-320
    • Schain, R.1    Freedman, D.X.2
  • 120
    • 0345107244 scopus 로고    scopus 로고
    • The ARX story (epilepsy, mental retardation, autism and cerebral malformations): one gene leads to many phenotypes
    • Sherr EH (2003) The ARX story (epilepsy, mental retardation, autism and cerebral malformations): one gene leads to many phenotypes. Current Opinion in Pediatrics 15: 567-571.
    • (2003) Current Opinion in Pediatrics , vol.15 , pp. 567-571
    • Sherr, E.H.1
  • 125
    • 0016679379 scopus 로고
    • Minor physical anomalies in normal, neurotic, learning disabled, and severely disturbed children
    • Steg JP, Rapoport JL (1975) Minor physical anomalies in normal, neurotic, learning disabled, and severely disturbed children. Journal of Autism and Childhood Schizophrenia 5:299-307.
    • (1975) Journal of Autism and Childhood Schizophrenia , vol.5 , pp. 299-307
    • Steg, J.P.1    Rapoport, J.L.2
  • 126
    • 0036020705 scopus 로고    scopus 로고
    • Infantile spasms, dystonia and other X-linked phenotypes caused by mutation in Aristaless related homeobox gene, ARX
    • Stromme P, Mangelsdorf ME, Scheffer IE, Gecz J (2002) Infantile spasms, dystonia and other X-linked phenotypes caused by mutation in Aristaless related homeobox gene, ARX. Brain Development 24:266-268.
    • (2002) Brain Development , vol.24 , pp. 266-268
    • Stromme, P.1    Mangelsdorf, M.E.2    Scheffer, I.E.3    Gecz, J.4
  • 127
    • 0030607902 scopus 로고    scopus 로고
    • Autism and genetics: high incidence of specific genetic syndromes in 21 autistic adolescents and adults living in two residential homes in Belgium
    • Swillen A, Hellemans H, Steyaert J, Fryns JP (1996) Autism and genetics: high incidence of specific genetic syndromes in 21 autistic adolescents and adults living in two residential homes in Belgium. American Journal of Medical Genetics 67:315-316.
    • (1996) American Journal of Medical Genetics , vol.67 , pp. 315-316
    • Swillen, A.1    Hellemans, H.2    Steyaert, J.3    Fryns, J.P.4
  • 130
    • 0016746133 scopus 로고
    • Early childhood psychosis and bleeding during pregnancy. A prospective study of gravid women and their offspring
    • Torrey EF, Hersh SP, McCabe KD (1975) Early childhood psychosis and bleeding during pregnancy. A prospective study of gravid women and their offspring. Journal of Autism and Childhood Schizophrenia 5:287-297.
    • (1975) Journal of Autism and Childhood Schizophrenia , vol.5 , pp. 287-297
    • Torrey, E.F.1    Hersh, S.P.2    McCabe, K.D.3
  • 131
    • 0023798843 scopus 로고
    • The clinical recognition and differential diagnosis of Rett syndrome
    • Trevathan E, Naidu S (1988) The clinical recognition and differential diagnosis of Rett syndrome. Journal of Child Neurology 3(Suppl): S6-S16.
    • (1988) Journal of Child Neurology , vol.3 , Issue.SUPPL , pp. S6-S16
    • Trevathan, E.1    Naidu, S.2
  • 132
    • 0036837658 scopus 로고    scopus 로고
    • Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation
    • Turner G, Partington M, Kerr B, Mangelsdorf M, Gecz J (2002) Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation. American Journal of Medical Genetics 112: 405-411.
    • (2002) American Journal of Medical Genetics , vol.112 , pp. 405-411
    • Turner, G.1    Partington, M.2    Kerr, B.3    Mangelsdorf, M.4    Gecz, J.5
  • 135
    • 0042851620 scopus 로고
    • Incidence of minor physical anomalies in autistic patients
    • Coleman M (Ed), Amsterdam: North-Holland Publishing Co
    • Walker HA (1976) Incidence of minor physical anomalies in autistic patients. In Coleman M (Ed) The Autistic Syndromes. Amsterdam: North-Holland Publishing Co.
    • (1976) The Autistic Syndromes
    • Walker, H.A.1
  • 136
    • 0034944526 scopus 로고    scopus 로고
    • Chromosomal abnormalities in a clinic sample of individuals with autistic disorder
    • Wassink TH, Piven J, Patil SR (2001) Chromosomal abnormalities in a clinic sample of individuals with autistic disorder. Psychiatric Genetics 11:57-63.
    • (2001) Psychiatric Genetics , vol.11 , pp. 57-63
    • Wassink, T.H.1    Piven, J.2    Patil, S.R.3
  • 138
    • 0042199134 scopus 로고    scopus 로고
    • The diagnostic interview for social and communication disorders: background, inter-rater reliability and clinical use
    • Wing L, Leekam SR, Libby SJ, Gould J, Larcombe M (2002) The diagnostic interview for social and communication disorders: background, inter-rater reliability and clinical use. Journal of Child Psychology and Psychiatry 43:307-325.
    • (2002) Journal of Child Psychology and Psychiatry , vol.43 , pp. 307-325
    • Wing, L.1    Leekam, S.R.2    Libby, S.J.3    Gould, J.4    Larcombe, M.5
  • 139
    • 0036596250 scopus 로고    scopus 로고
    • The 22q11.2 deletion syndrome
    • Yamagishi H (2002) The 22q11.2 deletion syndrome. Keio Journal of Medicine 51:77-88.
    • (2002) Keio Journal of Medicine , vol.51 , pp. 77-88
    • Yamagishi, H.1
  • 144
    • 0035577350 scopus 로고    scopus 로고
    • A high density of X-linked genes for general cognitive ability: a run-away process of shaping human evolution?
    • Zechner U, Wilda M, Kehrer-Sawatzki H, Vogel W, Fundele R, Hameister H (2001) A high density of X-linked genes for general cognitive ability: a run-away process of shaping human evolution? Trends in Genetics 17:697-701.
    • (2001) Trends in Genetics , vol.17 , pp. 697-701
    • Zechner, U.1    Wilda, M.2    Kehrer-Sawatzki, H.3    Vogel, W.4    Fundele, R.5    Hameister, H.6


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