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Volumn 96, Issue 3, 2000, Pages 365-372

Three probands with autistic disorder and isodicentric chromosome 15

Author keywords

De novo; Gamma aminobutyric acid receptor (GABA); Isodicentric chromosome 15q; Maternally derived

Indexed keywords

4 AMINOBUTYRIC ACID;

EID: 0034640701     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/1096-8628(20000612)96:3<365::AID-AJMG25>3.0.CO;2-X     Document Type: Article
Times cited : (87)

References (55)
  • 1
    • 0025883202 scopus 로고
    • Hypomelanosis of Ito in three cases with autism and autistic-like conditions
    • Akefeldt A, Gillberg C. 1991. Hypomelanosis of Ito in three cases with autism and autistic-like conditions. Dev Med Child Neurol 33:737-743.
    • (1991) Dev Med Child Neurol , vol.33 , pp. 737-743
    • Akefeldt, A.1    Gillberg, C.2
  • 4
    • 0028206982 scopus 로고
    • Parental origin of Robertsonian translocation (15q22q) and Prader-Willi syndrome associated with autism
    • Arrieta I, Lobato MN, Martinez B, Criado B. 1994. Parental origin of Robertsonian translocation (15q22q) and Prader-Willi syndrome associated with autism. Psychiatr Genet 4(1):63-65.
    • (1994) Psychiatr Genet , vol.4 , Issue.1 , pp. 63-65
    • Arrieta, I.1    Lobato, M.N.2    Martinez, B.3    Criado, B.4
  • 5
    • 0027934165 scopus 로고
    • Duplication of chromosome 15q11-13 in two additional individuals with autistic disorder
    • Baker P, Piven J, Schwartz S, Patil S. 1994. Duplication of chromosome 15q11-13 in two additional individuals with autistic disorder. J Autism Dev Dis 24(4):529-535.
    • (1994) J Autism Dev Dis , vol.24 , Issue.4 , pp. 529-535
    • Baker, P.1    Piven, J.2    Schwartz, S.3    Patil, S.4
  • 10
    • 0029875324 scopus 로고    scopus 로고
    • Brief report: Epidemiology of autism
    • Bryson SE. 1996. Brief report: epidemiology of autism. J Autism Dev Dis 26:165-167.
    • (1996) J Autism Dev Dis , vol.26 , pp. 165-167
    • Bryson, S.E.1
  • 11
    • 0027935295 scopus 로고
    • Case reports: Duplication of a 15q11-13 region in a proband with autism, epilepsy, and ataxia
    • Bundy S, Hardy C, Vickers S, Kilpatrick MW, Corbett JA. 1994. Case reports: duplication of a 15q11-13 region in a proband with autism, epilepsy, and ataxia. Dev Med Child Neurol 36:736-742.
    • (1994) Dev Med Child Neurol , vol.36 , pp. 736-742
    • Bundy, S.1    Hardy, C.2    Vickers, S.3    Kilpatrick, M.W.4    Corbett, J.A.5
  • 12
    • 0022462350 scopus 로고
    • Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome
    • Butler MG, Meaney FJ, Palmer CG. 1986. Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome. Am J Med Genet 23(3):793-809.
    • (1986) Am J Med Genet , vol.23 , Issue.3 , pp. 793-809
    • Butler, M.G.1    Meaney, F.J.2    Palmer, C.G.3
  • 16
    • 0030724832 scopus 로고    scopus 로고
    • Maladptive behavior in children with Prader-Willi syndrome, Down syndrome, and nonspecific mental retardation
    • Dykens EM, Kasari C. 1997. Maladptive behavior in children with Prader-Willi syndrome, Down syndrome, and nonspecific mental retardation. Am J Ment Retard 102(3):228-237.
    • (1997) Am J Ment Retard , vol.102 , Issue.3 , pp. 228-237
    • Dykens, E.M.1    Kasari, C.2
  • 17
    • 0030070898 scopus 로고    scopus 로고
    • Cytogeneitc and molecular analysis of inv dup(15) chromosomes observed in two probands with autistic disorder and mental retardation
    • Flejter WL, Bennett-Baker PE, Ghaziuddin M, McDonald M, Sheldon S, Gorski JL. 1996. Cytogeneitc and molecular analysis of inv dup(15) chromosomes observed in two probands 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
  • 18
    • 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 Psych Psychiatr Allied Disc 18(4):297-321.
    • (1977) J Child Psych Psychiatr Allied Disc , vol.18 , Issue.4 , pp. 297-321
    • Folstein, S.1    Rutter, M.2
  • 19
    • 0025778539 scopus 로고
    • Etiology of autism: Genetic influences
    • Folstein SE, Piven J. 1991. Etiology of autism: genetic influences. Pediatrics 87(5), part 21:767-773.
    • (1991) Pediatrics , vol.87 , Issue.5 PART 21 , pp. 767-773
    • Folstein, S.E.1    Piven, J.2
  • 21
    • 0027529253 scopus 로고
    • Asymptotic properties of affected-sib-pair linkage analysis
    • Holmans P. 1993. Asymptotic properties of affected-sib-pair linkage analysis. Am J Hum Genet 52:362-374.
    • (1993) Am J Hum Genet , vol.52 , pp. 362-374
    • Holmans, P.1
  • 22
    • 50749131830 scopus 로고
    • The croonian lectures on the clinical symptoms of cerebellar disease and their interpretation
    • Holmes G. 1922. The Croonian Lectures on the clinical symptoms of cerebellar disease and their interpretation. Lancet 1177-1237.
    • (1922) Lancet , pp. 1177-1237
    • Holmes, G.1
  • 23
    • 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 Dis 25(1):41-48.
    • (1995) J Autism Dev Dis , vol.25 , Issue.1 , pp. 41-48
    • Hotopf, M.1    Bolton, P.2
  • 24
    • 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(3):571-578.
    • (1998) Hum Mol Genet , vol.7 , Issue.3 , pp. 571-578
  • 25
    • 0025024313 scopus 로고
    • Autism, profound mental retardation, and atypical bipolar disorder in a 33-year-old female with a deletion of 15q12
    • Kerbeshian J, Burd L, Randall T, Martsolf J, Jalal S. 1990. Autism, profound mental retardation, and atypical bipolar disorder in a 33-year-old female with a deletion of 15q12. J Ment Def Res 34:205-210.
    • (1990) J Ment Def Res , vol.34 , pp. 205-210
    • Kerbeshian, J.1    Burd, L.2    Randall, T.3    Martsolf, J.4    Jalal, S.5
  • 26
    • 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, LeCouteur 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 Dis 24(5):659-685.
    • (1994) J Autism Dev Dis , vol.24 , Issue.5 , pp. 659-685
    • Lord, C.1    Rutter, M.2    LeCouteur, A.3
  • 27
    • 0027351015 scopus 로고
    • The neurobiology and genetics of infantile autism
    • Lotspeich LJ, Ciaranello RD 1993. The neurobiology and genetics of infantile autism [Review]. Int Rev Neurobiol 35:87-129.
    • (1993) Int Rev Neurobiol , vol.35 , pp. 87-129
    • Lotspeich, L.J.1    Ciaranello, R.D.2
  • 32
    • 0027026716 scopus 로고
    • Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region
    • Ozcelik T, Leff S, Robinson W, Donion T, Lalande M, Sanjines E, Schinzel A, Francke U. 1992. Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region. Nat Genet 2(4):265-269.
    • (1992) Nat Genet , vol.2 , Issue.4 , pp. 265-269
    • Ozcelik, T.1    Leff, S.2    Robinson, W.3    Donion, T.4    Lalande, M.5    Sanjines, E.6    Schinzel, A.7    Francke, U.8
  • 34
    • 0029098096 scopus 로고
    • Mosaic loss of 15q11q13 in a proband with hypomelanosis of Ito: Is there a role for the P gene?
    • Pellegrino J, Schnur RE, Kline R, Zackai EH, Spinner NB. 1995. Mosaic loss of 15q11q13 in a proband with hypomelanosis of Ito: is there a role for the P gene? Hum Genet 96:485-489.
    • (1995) Hum Genet , vol.96 , pp. 485-489
    • Pellegrino, J.1    Schnur, R.E.2    Kline, R.3    Zackai, E.H.4    Spinner, N.B.5
  • 36
    • 0009939125 scopus 로고    scopus 로고
    • Basic concepts in linkage analysis
    • Haines JL, Pericak-Vance MA, editors. New York: Wiley-Liss
    • Pericak-Vance MA. 1998. Basic concepts in linkage analysis. In: Haines JL, Pericak-Vance MA, editors. Approaches to gene mapping in complex diseases. New York: Wiley-Liss (4):77-89.
    • (1998) Approaches to Gene Mapping in Complex Diseases , Issue.4 , pp. 77-89
    • Pericak-Vance, M.A.1
  • 39
    • 0017797533 scopus 로고
    • Oculocutaneous albinism and mental disorder. A report of two autistic boys
    • Rogawski MA, Funderburk SJ, Cederbaum SD. 1978. Oculocutaneous albinism and mental disorder. A report of two autistic boys. Hum Heredity 28:81-85.
    • (1978) Hum Heredity , vol.28 , pp. 81-85
    • Rogawski, M.A.1    Funderburk, S.J.2    Cederbaum, S.D.3
  • 47
    • 0025889717 scopus 로고
    • Autistic and dysphasic children: II. epilepsy
    • Tuchman RF, Rapin I, Shinner S. 1991. Autistic and dysphasic children: II. epilepsy. Pediatrics 6:1219-1225.
    • (1991) Pediatrics , vol.6 , pp. 1219-1225
    • Tuchman, R.F.1    Rapin, I.2    Shinner, S.3
  • 48
    • 0002121803 scopus 로고    scopus 로고
    • The collection of biological samples for DNA analysis
    • Haines JL, Pericak-Vance MA, editors. New York: Wiley-Liss
    • Vance JM. 1998. The collection of biological samples for DNA analysis. In: Haines JL, Pericak-Vance MA, editors. Approaches to gene mapping in complex human diseases. New York: Wiley-Liss. (8): p 201-211.
    • (1998) Approaches to Gene Mapping in Complex Human Diseases , Issue.8 , pp. 201-211
    • Vance, J.M.1
  • 49
    • 0002303461 scopus 로고    scopus 로고
    • Results of a genomic screen for autism including strong evidence of linkage to chromosome 13
    • Vieland V, and The Collaborative Linkage Study of Autism. 1998. Results of a genomic screen for autism including strong evidence of linkage to chromosome 13. Am J Hum Genet 63(4):A16.
    • (1998) Am J Hum Genet , vol.63 , Issue.4
    • Vieland, V.1
  • 51
    • 0031881661 scopus 로고    scopus 로고
    • A clinical, cytogenetic, and molecular study of ten probands with supernumerary inv dup (15) marker chromosomes
    • Webb T, Hardy CA, King M, Watkiss E, Mitchell C, Cole T. 1998. A clinical, cytogenetic, and molecular study of ten probands with supernumerary inv dup (15) marker chromosomes. Clin Genet 53:34-43.
    • (1998) Clin Genet , vol.53 , pp. 34-43
    • Webb, T.1    Hardy, C.A.2    King, M.3    Watkiss, E.4    Mitchell, C.5    Cole, T.6
  • 52
    • 0028857007 scopus 로고
    • Polygenic disease: Methods for mapping complex diesase traits
    • Weeks DE, Lathrop GM.1995. Polygenic disease: methods for mapping complex diesase traits. Trends Genet 11:513-519.
    • (1995) Trends Genet , vol.11 , pp. 513-519
    • Weeks, D.E.1    Lathrop, G.M.2
  • 53
    • 0031827203 scopus 로고    scopus 로고
    • Chromosome in autism and related pervasive developmental disorder: A cytogenetic study
    • Weidmer-Mikhail E, Sheldon S, Ghaziuddin M. 1998. Chromosome in autism and related pervasive developmental disorder: a cytogenetic study. J Intel Dis Res 42:8-12.
    • (1998) J Intel Dis Res , vol.42 , pp. 8-12
    • Weidmer-Mikhail, E.1    Sheldon, S.2    Ghaziuddin, M.3
  • 55
    • 0027282360 scopus 로고
    • Autism and hypomelanosis of Ito in twins
    • Zappella M. 1993. Autism and hypomelanosis of Ito in twins. Dev Med Child Neurol 35:826-832.
    • (1993) Dev Med Child Neurol , vol.35 , pp. 826-832
    • Zappella, M.1


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