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Volumn 359, Issue 16, 2008, Pages 1728-1730

Cytogenetic technology - Genotype and phenotype

Author keywords

[No Author keywords available]

Indexed keywords

CAT CRY SYNDROME; CATARACT; CHROMOSOME ABERRATION; CHROMOSOME BANDING PATTERN; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CYTOGENETICS; DIGEORGE SYNDROME; DISEASE ASSOCIATION; EDITORIAL; FLUORESCENCE IN SITU HYBRIDIZATION; GENE TECHNOLOGY; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENOTYPE; HEART DISEASE; KLINEFELTER SYNDROME; MENTAL DEFICIENCY; MICROCEPHALY; MILLER DIEKER SYNDROME; PHENOTYPE; PRADER WILLI SYNDROME; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM; SMITH MAGENIS SYNDROME; TRISOMY 13; TRISOMY 18; TRISOMY 21; TURNER SYNDROME; WAGR SYNDROME; WOLF HIRSCHHORN SYNDROME;

EID: 54049142123     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMe0806570     Document Type: Editorial
Times cited : (44)

References (15)
  • 1
    • 54049094444 scopus 로고    scopus 로고
    • Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
    • Mefford H, Sharp A, Baker C, et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med 2008;359:1685-99.
    • (2008) N Engl J Med , vol.359 , pp. 1685-1699
    • Mefford, H.1    Sharp, A.2    Baker, C.3
  • 2
    • 39049163023 scopus 로고    scopus 로고
    • Association between microdeletion and microduplication at 16p11.2 and autism
    • Weiss LA, Shen Y, Korn JM, et al. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 2008;358:667-75.
    • (2008) N Engl J Med , vol.358 , pp. 667-675
    • Weiss, L.A.1    Shen, Y.2    Korn, J.M.3
  • 3
    • 32644441984 scopus 로고    scopus 로고
    • BAC to the future! or oligonucleotides: A perspective for micro array comparative genomic hybridization (array CGH)
    • Ylstra B, van den Ijssel P, Carvalho B, Brakenhoff RH, Meijer GA. BAC to the future! or oligonucleotides: a perspective for micro array comparative genomic hybridization (array CGH). Nucleic Acids Res 2006;34:445-50.
    • (2006) Nucleic Acids Res , vol.34 , pp. 445-450
    • Ylstra, B.1    van den Ijssel, P.2    Carvalho, B.3    Brakenhoff, R.H.4    Meijer, G.A.5
  • 4
    • 39649124023 scopus 로고    scopus 로고
    • Array-based DNA diagnostics: Let the revolution begin
    • Beaudet AL, Belmont JW. Array-based DNA diagnostics: let the revolution begin. Annu Rev Med 2008;59:113-29.
    • (2008) Annu Rev Med , vol.59 , pp. 113-129
    • Beaudet, A.L.1    Belmont, J.W.2
  • 5
    • 48849108010 scopus 로고    scopus 로고
    • Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray
    • Baldwin EL, Lee J-Y, Blake DM, et al. Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray. Genet Med 2008;10:415-29.
    • (2008) Genet Med , vol.10 , pp. 415-429
    • Baldwin, E.L.1    Lee, J.-Y.2    Blake, D.M.3
  • 6
    • 0008948614 scopus 로고
    • Chromosomal aberrations in man
    • Lejeune J, Turpin R. Chromosomal aberrations in man. Am J Hum Genet 1961;13:175-84.
    • (1961) Am J Hum Genet , vol.13 , pp. 175-184
    • Lejeune, J.1    Turpin, R.2
  • 7
    • 0023807094 scopus 로고
    • Microdeletion syndromes, balanced translocations, and gene mapping
    • Schinzel A. Microdeletion syndromes, balanced translocations, and gene mapping. J Med Genet 1988;25:454-62.
    • (1988) J Med Genet , vol.25 , pp. 454-462
    • Schinzel, A.1
  • 8
    • 0002817593 scopus 로고    scopus 로고
    • Molecular cytogenetics of contiguous gene syndromes: Mechanisms and consequences of gene dosage imbalance
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds, 8th ed. New York: McGraw-Hill
    • Shaffer LG, Ledbetter DH, Lupski JR. Molecular cytogenetics of contiguous gene syndromes: mechanisms and consequences of gene dosage imbalance. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill, 2001:1291-324.
    • (2001) The metabolic and molecular bases of inherited disease , pp. 1291-1324
    • Shaffer, L.G.1    Ledbetter, D.H.2    Lupski, J.R.3
  • 9
    • 44249121777 scopus 로고    scopus 로고
    • Novel microdeletion syndromes detected by chromosome microarrays
    • Slavotinek AM. Novel microdeletion syndromes detected by chromosome microarrays. Hum Genet 2008;124:1-17.
    • (2008) Hum Genet , vol.124 , pp. 1-17
    • Slavotinek, A.M.1
  • 10
    • 34347361618 scopus 로고    scopus 로고
    • Copy number variations and clinical cytogenetic diagnosis of constitutional disorders
    • Lee C, Iafrate AJ, Brothman AR. Copy number variations and clinical cytogenetic diagnosis of constitutional disorders. Nat Genet 2007;39:Suppl:S48-S54.
    • (2007) Nat Genet , vol.39 , Issue.SUPPL.
    • Lee, C.1    Iafrate, A.J.2    Brothman, A.R.3
  • 11
    • 0031731487 scopus 로고    scopus 로고
    • Genomic disorders: Structural features of the genome can lead to DNA rearrangements and human disease traits
    • Lupski JR. Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet 1998;14:417-22.
    • (1998) Trends Genet , vol.14 , pp. 417-422
    • Lupski, J.R.1
  • 12
    • 33748333194 scopus 로고    scopus 로고
    • Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome
    • Sharp AJ, Hansen S, Selzer RR, et al. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet 2006;38:1038-42.
    • (2006) Nat Genet , vol.38 , pp. 1038-1042
    • Sharp, A.J.1    Hansen, S.2    Selzer, R.R.3
  • 14
    • 49949085933 scopus 로고    scopus 로고
    • Stefansson H, Rujescu D, Cichon S, et al. Large recurrent microdeletions associated with schizophrenia. Nature 2008 July 30 (Epub ahead of print).
    • Stefansson H, Rujescu D, Cichon S, et al. Large recurrent microdeletions associated with schizophrenia. Nature 2008 July 30 (Epub ahead of print).
  • 15
    • 85153178696 scopus 로고    scopus 로고
    • The International Schizophrenia Consortium. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 2008 July 30 (Epub ahead of print).
    • The International Schizophrenia Consortium. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 2008 July 30 (Epub ahead of print).


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.