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Volumn 21, Issue 1, 2003, Pages 45-52

Sequence diversity of KIAA0027/MLC1: Are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?

Author keywords

Catatonia; KIAA0027; Megalencephalic leukoencephalopathy; MLC1; Schizophrenia; SNP

Indexed keywords

5' UNTRANSLATED REGION; ADOLESCENT; ADULT; ALEXANDER DISEASE; ALLELISM; ARTICLE; BRAIN TUMOR; CATATONIA; CATATONIC SCHIZOPHRENIA; CHILD; CHROMOSOME 22Q; CODON; CONTROLLED STUDY; DNA POLYMORPHISM; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE FREQUENCY; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; MEGALENCEPHALIC LEUKOENCEPHALOPATHY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SCHIZOPHRENIA; SINGLE NUCLEOTIDE POLYMORPHISM; VALIDATION PROCESS;

EID: 0037224509     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10145     Document Type: Article
Times cited : (23)

References (30)
  • 2
    • 0032874085 scopus 로고    scopus 로고
    • 22qll deletion syndrome: A genetic subtype of schizophrenia
    • Bassett AS, Chow EWC. 1999. 22qll deletion syndrome: a genetic subtype of schizophrenia. Biol Psychiatry 46: 882-891.
    • (1999) Biol Psychiatry , vol.46 , pp. 882-891
    • Bassett, A.S.1    Chow, E.W.C.2
  • 3
    • 0029970076 scopus 로고    scopus 로고
    • Genetic heterogeneity in catatonic schizophrenia: A family study
    • Beckmann H, Franzek E, Stöber G. 1996. Genetic heterogeneity in catatonic schizophrenia: a family study. Am J Med Genet 67:289-300.
    • (1996) Am J Med Genet , vol.67 , pp. 289-300
    • Beckmann, H.1    Franzek, E.2    Stöber, G.3
  • 4
    • 0002409238 scopus 로고    scopus 로고
    • Neuropathology of the endogenous psychoses
    • Henn F, Sartorius N, Helmchen H, Lauter H, editors. Berlin, Heidelberg, New York, Barcelona, Hong Kong, London, Milan, Paris, Singapore, Tokyo: Springer
    • Beckmann H. 2001. Neuropathology of the endogenous psychoses. In: Henn F, Sartorius N, Helmchen H, Lauter H, editors. Contemporary psychiatry, vol. 3. Specific psychiatric disorders. Berlin, Heidelberg, New York, Barcelona, Hong Kong, London, Milan, Paris, Singapore, Tokyo: Springer. p 81-100.
    • (2001) Contemporary Psychiatry, Vol. 3. Specific Psychiatric Disorders , vol.3 , pp. 81-100
    • Beckmann, H.1
  • 5
    • 0012367411 scopus 로고    scopus 로고
    • Reduced amplification efficiency of KIAA0027/MLC1 alleles: Implications for the molecular diagnosis of megalencephalic leukoencephalopathy with subcortical cysts
    • in press
    • Bettecken T, Rubie C, Lichtner P, Siekiera M, Meitinger T, Stöber G. Reduced amplification efficiency of KIAA0027/MLC1 alleles: implications for the molecular diagnosis of megalencephalic leukoencephalopathy with subcortical cysts. Mol Cell Probes (in press).
    • Mol Cell Probes
    • Bettecken, T.1    Rubie, C.2    Lichtner, P.3    Siekiera, M.4    Meitinger, T.5    Stöber, G.6
  • 6
    • 0027283411 scopus 로고
    • Recent advances in the neuropathology of schizophrenia
    • Bogerts B. 1993. Recent advances in the neuropathology of schizophrenia. Schiz Bull 19:431-445.
    • (1993) Schiz Bull , vol.19 , pp. 431-445
    • Bogerts, B.1
  • 7
    • 0034143592 scopus 로고    scopus 로고
    • Polymorphic markers for the arylsulfatase A gene reveal a greatly expanded meiotic map for the human 22q telomeric region
    • Brennan MD, Neibergs HL, Phillips K, Moseley S. 2000. Polymorphic markers for the arylsulfatase A gene reveal a greatly expanded meiotic map for the human 22q telomeric region. Genomics 63:430-432.
    • (2000) Genomics , vol.63 , pp. 430-432
    • Brennan, M.D.1    Neibergs, H.L.2    Phillips, K.3    Moseley, S.4
  • 8
    • 0031877384 scopus 로고    scopus 로고
    • Structural models of the transmembrane region of voltage-gated and other K+ channels in open, closed, and inactivated conformations
    • Durell SR, Hao Y, Guy HR. 1998. Structural models of the transmembrane region of voltage-gated and other K+ channels in open, closed, and inactivated conformations. J Structural Biology 121:263-284.
    • (1998) J Structural Biology , vol.121 , pp. 263-284
    • Durell, S.R.1    Hao, Y.2    Guy, H.R.3
  • 17
    • 0026322751 scopus 로고
    • Sex identification by polymerase chain reaction using X-Y homologous primer
    • Nakahori Y, Hamano K, Iwaya M, Nakagome Y. 1991. Sex identification by polymerase chain reaction using X-Y homologous primer. Am J Med Genet 39:472-473.
    • (1991) Am J Med Genet , vol.39 , pp. 472-473
    • Nakahori, Y.1    Hamano, K.2    Iwaya, M.3    Nakagome, Y.4
  • 18
    • 0033613865 scopus 로고    scopus 로고
    • Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
    • Nishino I, Spinazzola A, Hirano M. 1999. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 283:689-692.
    • (1999) Science , vol.283 , pp. 689-692
    • Nishino, I.1    Spinazzola, A.2    Hirano, M.3
  • 19
    • 0028685657 scopus 로고
    • Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1
    • Nomura N, Miyajima N, Sazuka T, Tanaka A, Kawaarabayasi Y, Sato S, Nagase T, Seki N, Ishikawa KI, Tabata S. 1994. Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1. DNA Res 1:27-35.
    • (1994) DNA Res , vol.1 , pp. 27-35
    • Nomura, N.1    Miyajima, N.2    Sazuka, T.3    Tanaka, A.4    Kawaarabayasi, Y.5    Sato, S.6    Nagase, T.7    Seki, N.8    Ishikawa, K.I.9    Tabata, S.10
  • 23
    • 0029017373 scopus 로고
    • Periodic catatonia: A schizophrenic subtype with major gene effect and anticipation
    • Stöber G, Franzek E, Lesch KP, Beckmann H. 1995. Periodic catatonia: a schizophrenic subtype with major gene effect and anticipation. Eur Arch Psychiatr Clin Neurosci 245: 135-141.
    • (1995) Eur Arch Psychiatr Clin Neurosci , vol.245 , pp. 135-141
    • Stöber, G.1    Franzek, E.2    Lesch, K.P.3    Beckmann, H.4
  • 26
    • 0031976193 scopus 로고    scopus 로고
    • Megalencephaly and leukodystrophy with mild clinical course: A report on 12 new cases
    • Topçu M, Saatci I, Topcuoglu MA, Kose G, Kunak B. 1998. Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases. Brain Dev 20:142-153.
    • (1998) Brain Dev , vol.20 , pp. 142-153
    • Topçu, M.1    Saatci, I.2    Topcuoglu, M.A.3    Kose, G.4    Kunak, B.5
  • 29
    • 0029973244 scopus 로고    scopus 로고
    • Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course
    • van der Knaap MS, Barth PG, Vrensen GF, Valk J. 1996. Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course. Acta Neuropathol 92:206-212.
    • (1996) Acta Neuropathol , vol.92 , pp. 206-212
    • Van der Knaap, M.S.1    Barth, P.G.2    Vrensen, G.F.3    Valk, J.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.