메뉴 건너뛰기




Volumn 109, Issue 6, 2009, Pages 55-64

Cytogenetic, molecular cytogenetic, clinical and genealogical study of mothers of children with autism: a search for family genetic markers of autistic disorders

Author keywords

Autism; Chromosomal abnormalities; Chromosomal variations; Genetics of autism

Indexed keywords

DNA;

EID: 70349107955     PISSN: 19977298     EISSN: 19977298     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (8)

References (43)
  • 1
    • 70349102634 scopus 로고    scopus 로고
    • Russian Sources
    • Russian Sources.
  • 2
    • 70349121838 scopus 로고    scopus 로고
    • Russian Sources
    • Russian Sources.
  • 3
    • 70349109810 scopus 로고    scopus 로고
    • Russian Sources
    • Russian Sources.
  • 4
    • 70349161323 scopus 로고    scopus 로고
    • Russian Sources
    • Russian Sources.
  • 5
    • 70349087885 scopus 로고    scopus 로고
    • Russian Sources
    • Russian Sources.
  • 6
    • 70349137260 scopus 로고    scopus 로고
    • Russian Sources
    • Russian Sources.
  • 7
    • 70349116173 scopus 로고    scopus 로고
    • Russian Sources
    • Russian Sources.
  • 8
    • 70349139756 scopus 로고    scopus 로고
    • Russian Sources
    • Russian Sources.
  • 9
    • 70349117820 scopus 로고    scopus 로고
    • Russian Sources
    • Russian Sources.
  • 10
    • 70349162148 scopus 로고    scopus 로고
    • Russian Sources
    • Russian Sources.
  • 11
    • 70349128671 scopus 로고    scopus 로고
    • Russian Sources
    • Russian Sources.
  • 12
    • 70349159222 scopus 로고    scopus 로고
    • Russian Sources
    • Russian Sources.
  • 13
    • 70349115335 scopus 로고    scopus 로고
    • Russian Sources
    • Russian Sources.
  • 14
    • 70349135212 scopus 로고    scopus 로고
    • Russian Sources
    • Russian Sources.
  • 15
    • 70349152354 scopus 로고    scopus 로고
    • Russian Sources
    • Russian Sources.
  • 16
    • 34250557053 scopus 로고
    • Die «autistischen Psychopathen» im Kindesalter
    • Asperger H. Die «autistischen Psychopathen» im Kindesalter. Arch Psychiat Nervenkr 1944; 117: 76-136.
    • (1944) Arch Psychiat Nervenkr , vol.117 , pp. 76-136
    • Asperger, H.1
  • 17
    • 10744226187 scopus 로고    scopus 로고
    • International molecular genetic study of autism consortium (IMGSAC). Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene
    • Bacchelli E., Blasi F., Biondolillo M. et al. International molecular genetic study of autism consortium (IMGSAC). Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene. Mol Psychiat 2003; 8: 11: 916-924.
    • (2003) Mol Psychiat , vol.8 , pp. 916-924
    • Bacchelli, E.1    Blasi, F.2    Biondolillo, M.3
  • 19
    • 3042542935 scopus 로고    scopus 로고
    • Chromosomal anomalies in individuals with autism: A strategy towards the identification of genes involved in autism
    • Castermans D., Willquet V., Steyert J. et al. Chromosomal anomalies in individuals with autism: a strategy towards the identification of genes involved in autism. Autism 2004; 8: 141-161.
    • (2004) Autism , vol.8 , pp. 141-161
    • Castermans, D.1    Willquet, V.2    Steyert, J.3
  • 20
    • 33845797961 scopus 로고    scopus 로고
    • The genetics of autistic disorders and its clinical relevance: A review of the literature
    • Freitag C.M. The genetics of autistic disorders and its clinical relevance: a review of the literature. Mol Psychiat 2007; 12: 1: 2-22.
    • (2007) Mol Psychiat , vol.12 , pp. 2-22
    • Freitag, C.M.1
  • 21
    • 0023676356 scopus 로고
    • Detecting anxiety and depression in general medical settings
    • Goldberg D., Bridges K., Duncan-Jones P., Grayson D. Detecting anxiety and depression in general medical settings. BMJ 1988; 297: 897-899.
    • (1988) BMJ , vol.297 , pp. 897-899
    • Goldberg, D.1    Bridges, K.2    Duncan-Jones, P.3    Grayson, D.4
  • 22
    • 70349135211 scopus 로고    scopus 로고
    • Mosaic 22q11.2 microdeletion syndrome: Diagnosis and clinical manifestations of two cases
    • Halder A., Jain M., Kabra M., Gupta N. Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases. Mol Cytogenet 2008; 1: 18.
    • (2008) Mol Cytogenet , vol.1 , pp. 18
    • Halder, A.1    Jain, M.2    Kabra, M.3    Gupta, N.4
  • 23
    • 50849092861 scopus 로고    scopus 로고
    • A review of recent reports on autism: 1000 studies published in 2007
    • Hughes J.R. A review of recent reports on autism: 1000 studies published in 2007. Epilepsy Behav 2008; 13: 3: 425-437.
    • (2008) Epilepsy Behav , vol.13 , pp. 425-437
    • Hughes, J.R.1
  • 24
    • 14844290272 scopus 로고    scopus 로고
    • An approach for quantitative assessment of fluorescence in situ hybridization (FISH) signals for applied human molecular cytogenetics
    • Iourov I.Y., Soloviev I.V., Vorsanova S.G. et al. An approach for quantitative assessment of fluorescence in situ hybridization (FISH) signals for applied human molecular cytogenetics. J Histochem Cytochem 2005; 53: 401-408.
    • (2005) J Histochem Cytochem , vol.53 , pp. 401-408
    • Iourov, I.Y.1    Soloviev, I.V.2    Vorsanova, S.G.3
  • 25
    • 33646486987 scopus 로고    scopus 로고
    • Chromosomal variations in mammalian neural cells: Known facts and attractive hypotheses
    • Iourov I.Y., Vorsanova S.G., Yurov Y.B. Chromosomal variations in mammalian neural cells: known facts and attractive hypotheses. Int Rev Cytol 2006; 249: 143-191.
    • (2006) Int Rev Cytol , vol.249 , pp. 143-191
    • Iourov, I.Y.1    Vorsanova, S.G.2    Yurov, Y.B.3
  • 26
    • 33845646696 scopus 로고    scopus 로고
    • Intercellular genomic (chromosomal) variations resulting in somatic mosaicism: Mechanisms and consequences
    • Iourov I.Y., Vorsanova S.G., Yurov Y.B. Intercellular genomic (chromosomal) variations resulting in somatic mosaicism: mechanisms and consequences. Curr Genomics 2006; 7: 435-446.
    • (2006) Curr Genomics , vol.7 , pp. 435-446
    • Iourov, I.Y.1    Vorsanova, S.G.2    Yurov, Y.B.3
  • 27
    • 60849088633 scopus 로고    scopus 로고
    • Molecular cytogenetics and cytogenomics of brain diseases
    • Iourov I.Y., Vorsanova S.G., Yurov Y.B. Molecular cytogenetics and cytogenomics of brain diseases. Curr Genomics 2008; 7: 9: 452-465.
    • (2008) Curr Genomics , vol.7 , pp. 452-465
    • Iourov, I.Y.1    Vorsanova, S.G.2    Yurov, Y.B.3
  • 29
    • 37349109626 scopus 로고    scopus 로고
    • Mosaic X chromosome aneuploidy can help to explain the male-to-female ratio in autism
    • Iourov I.Y., Yurov Y.B., Vorsanova S.G. Mosaic X chromosome aneuploidy can help to explain the male-to-female ratio in autism. Med Hypotheses 2008; 70: 464.
    • (2008) Med Hypotheses , vol.70 , pp. 464
    • Iourov, I.Y.1    Yurov, Y.B.2    Vorsanova, S.G.3
  • 30
    • 0000984981 scopus 로고
    • Autistic disturbances of affective contact
    • Kanner L. Autistic disturbances of affective contact. Nerv Child 1943: 2: 217-250.
    • (1943) Nerv Child , vol.2 , pp. 217-250
    • Kanner, L.1
  • 33
    • 0031563047 scopus 로고    scopus 로고
    • Autism
    • Rapin I. Autism. N Engl J Med 1997; 337: 97-104.
    • (1997) N Engl J Med , vol.337 , pp. 97-104
    • Rapin, I.1
  • 34
    • 52949138731 scopus 로고    scopus 로고
    • Autism: Definition, neurobiology, screening, diagnosis
    • Rapin I., Tuchman R.F. Autism: definition, neurobiology, screening, diagnosis. Pediat Clin North Am 2008; 55: 5: 1129-1146.
    • (2008) Pediat Clin North Am , vol.55 , pp. 1129-1146
    • Rapin, I.1    Tuchman, R.F.2
  • 35
    • 0006838454 scopus 로고
    • Microwave activation of fluorescence in situ hybridization: A novel method for rapid chromosome detection and analysis
    • Soloviev I.V., Yurov Y.B., Vorsanova S.G., Malet P. Microwave activation of fluorescence in situ hybridization: a novel method for rapid chromosome detection and analysis. Focus 1994; 16: 115-116.
    • (1994) Focus , vol.16 , pp. 115-116
    • Soloviev, I.V.1    Yurov, Y.B.2    Vorsanova, S.G.3    Malet, P.4
  • 36
    • 0030937663 scopus 로고    scopus 로고
    • Cytogenetic and molecularcytogenetic investigation of Rett syndrome. Analysis of 31 cases
    • Vorsanova S.G., Demidova I.A., Ulas V.Y. et al. Cytogenetic and molecularcytogenetic investigation of Rett syndrome. Analysis of 31 cases. NeuroReport 1996; 7: 187-189.
    • (1996) NeuroReport , vol.7 , pp. 187-189
    • Vorsanova, S.G.1    Demidova, I.A.2    Ulas, V.Y.3
  • 37
    • 85013575836 scopus 로고    scopus 로고
    • Neurological, genetic and epigenetic features of Rett syndrome
    • Vorsanova S.G., Iourov I.Y., Yurov Y.B. Neurological, genetic and epigenetic features of Rett syndrome. J Pediat Neurol 2004; 2: 179-190.
    • (2004) J Pediat Neurol , vol.2 , pp. 179-190
    • Vorsanova, S.G.1    Iourov, I.Y.2    Yurov, Y.B.3
  • 38
    • 34548246019 scopus 로고    scopus 로고
    • Variability in the heterochromatin regions of the chromosomes and chromosomal anomalies in children with autism: Identification of genetic markers of autistic spectrum disorders
    • Vorsanova S.G., Yurov I.Y., Demidova I.A. et al. Variability in the heterochromatin regions of the chromosomes and chromosomal anomalies in children with autism: identification of genetic markers of autistic spectrum disorders. Neurosci Behav Physiol 2007; 37: 6: 553-558.
    • (2007) Neurosci Behav Physiol , vol.37 , pp. 553-558
    • Vorsanova, S.G.1    Yurov, I.Y.2    Demidova, I.A.3
  • 39
    • 70349111968 scopus 로고    scopus 로고
    • Partial monosomy 7q34-qter and 21pter-q22.13 due to cryptic unbalanced translocation t(7; 21) but not monosomy of the whole chromosome 21: A case report plus review of the literature
    • Vorsanova S.G., Iourov I.Y., Voinova-Ulas V.Y et al. Partial monosomy 7q34-qter and 21pter-q22.13 due to cryptic unbalanced translocation t(7; 21) but not monosomy of the whole chromosome 21: a case report plus review of the literature. Mol Cytogenet 2008; 1: 13.
    • (2008) Mol Cytogenet , vol.1 , pp. 13
    • Vorsanova, S.G.1    Iourov, I.Y.2    Voinova-Ulas, V.Y.3
  • 40
    • 33748426974 scopus 로고    scopus 로고
    • The 22q11.2 deletion in children: High rate of autistic disorders and early onset of psychotic symptoms
    • Vorstman J.A., Morcus M.E., Duijff S.N. et al. The 22q11.2 deletion in children: high rate of autistic disorders and early onset of psychotic symptoms. J Am Acad Child Adolesc Psychiat 2006; 45: 9: 1104-1113.
    • (2006) J Am Acad Child Adolesc Psychiat , vol.45 , pp. 1104-1113
    • Vorstman, J.A.1    Morcus, M.E.2    Duijff, S.N.3
  • 42
    • 0042827000 scopus 로고    scopus 로고
    • DNA probes for pre- and postnatal diagnosis of chromosomal anomalies: A collection for FISH analisis
    • Yurov Y.B., Soloviev I.V., Vorsanova S.G. et al. DNA probes for pre- and postnatal diagnosis of chromosomal anomalies: a collection for FISH analisis. Cs Pediat 1997; 52: 550-554.
    • (1997) Cs Pediat , vol.52 , pp. 550-554
    • Yurov, Y.B.1    Soloviev, I.V.2    Vorsanova, S.G.3
  • 43
    • 34548225995 scopus 로고    scopus 로고
    • Unexplained autism is frequently associated with low-level mosaic aneuploidy
    • Yurov Y.B., Vorsanova S.G., Iourov I.Y. et al. Unexplained autism is frequently associated with low-level mosaic aneuploidy. J Med Genet 2007; 44: 521-525.
    • (2007) J Med Genet , vol.44 , pp. 521-525
    • Yurov, Y.B.1    Vorsanova, S.G.2    Iourov, I.Y.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.