메뉴 건너뛰기




Volumn 94, Issue 5, 2014, Pages 695-709

Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature

Author keywords

[No Author keywords available]

Indexed keywords

DNA; NUCLEOTIDE;

EID: 84899921898     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.03.020     Document Type: Article
Times cited : (38)

References (44)
  • 1
    • 84981834288 scopus 로고
    • The chromosome number of man
    • J.H. Tjio, and A. Levan The chromosome number of man Hereditas 42 1956 1 6
    • (1956) Hereditas , vol.42 , pp. 1-6
    • Tjio, J.H.1    Levan, A.2
  • 2
    • 72849174949 scopus 로고
    • A proposed standard system of nomenclature of human mitotic chromosomes (Denver, Colorado)
    • A proposed standard system of nomenclature of human mitotic chromosomes (Denver, Colorado) Ann. Hum. Genet. 24 1960 319 325
    • (1960) Ann. Hum. Genet. , vol.24 , pp. 319-325
  • 4
    • 0015439158 scopus 로고
    • Identification of chromosome bivalents in human male meiosis by quinacrine mustard fluorescence analysis
    • T. Caspersson, M. Hultén, J. Lindsten, and L. Zech Identification of chromosome bivalents in human male meiosis by quinacrine mustard fluorescence analysis Hereditas 67 1972 147 149
    • (1972) Hereditas , vol.67 , pp. 147-149
    • Caspersson, T.1    Hultén, M.2    Lindsten, J.3    Zech, L.4
  • 5
    • 0015463603 scopus 로고
    • Paris Conference (1971): Standardization in human cytogenetics
    • Paris Conference (1971): Standardization in human cytogenetics Cytogenetics 11 1972 317 362
    • (1972) Cytogenetics , vol.11 , pp. 317-362
  • 6
    • 0018230498 scopus 로고
    • An international system for human cytogenetic nomenclature (1978) ISCN (1978). Report of the Standing Commitee on Human Cytogenetic Nomenclature
    • An international system for human cytogenetic nomenclature (1978) ISCN (1978). Report of the Standing Commitee on Human Cytogenetic Nomenclature Cytogenet. Cell Genet. 21 1978 309 409
    • (1978) Cytogenet. Cell Genet. , vol.21 , pp. 309-409
  • 7
    • 0019751983 scopus 로고
    • An international system for human cytogenetic nomenclature - High-resolution banding (1981). ISCN (1981)
    • Report of the Standing Committee on Human Cytogenetic Nomenclature
    • Report of the Standing Committee on Human Cytogenetic Nomenclature An international system for human cytogenetic nomenclature - high-resolution banding (1981). ISCN (1981) Cytogenet. Cell Genet. 31 1981 5 23
    • (1981) Cytogenet. Cell Genet. , vol.31 , pp. 5-23
  • 8
    • 0022332415 scopus 로고
    • An International System for Human Cytogenetic Nomenclature (1985) ISCN 1985
    • Report of the Standing Committee on Human Cytogenetic Nomenclature
    • Report of the Standing Committee on Human Cytogenetic Nomenclature An International System for Human Cytogenetic Nomenclature (1985) ISCN 1985 Birth Defects Orig. Artic. Ser. 21 1985 1 117
    • (1985) Birth Defects Orig. Artic. Ser. , vol.21 , pp. 1-117
  • 14
    • 0021136303 scopus 로고
    • A novel alteration in the structure of an activated c-myc gene in a variant t(2;8) Burkitt lymphoma
    • R. Taub, K. Kelly, J. Battey, S. Latt, G.M. Lenoir, U. Tantravahi, Z. Tu, and P. Leder A novel alteration in the structure of an activated c-myc gene in a variant t(2;8) Burkitt lymphoma Cell 37 1984 511 520
    • (1984) Cell , vol.37 , pp. 511-520
    • Taub, R.1    Kelly, K.2    Battey, J.3    Latt, S.4    Lenoir, G.M.5    Tantravahi, U.6    Tu, Z.7    Leder, P.8
  • 15
    • 0020993055 scopus 로고
    • Sequence of the murine and human cellular myc oncogenes and two modes of myc transcription resulting from chromosome translocation in B lymphoid tumours
    • O. Bernard, S. Cory, S. Gerondakis, E. Webb, and J.M. Adams Sequence of the murine and human cellular myc oncogenes and two modes of myc transcription resulting from chromosome translocation in B lymphoid tumours EMBO J. 2 1983 2375 2383
    • (1983) EMBO J. , vol.2 , pp. 2375-2383
    • Bernard, O.1    Cory, S.2    Gerondakis, S.3    Webb, E.4    Adams, J.M.5
  • 23
    • 84862777955 scopus 로고    scopus 로고
    • Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration
    • S1
    • C. Chiang, J.C. Jacobsen, C. Ernst, C. Hanscom, A. Heilbut, I. Blumenthal, R.E. Mills, A. Kirby, A.M. Lindgren, and S.R. Rudiger et al. Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration Nat. Genet. 44 2012 390 397 S1
    • (2012) Nat. Genet. , vol.44 , pp. 390-397
    • Chiang, C.1    Jacobsen, J.C.2    Ernst, C.3    Hanscom, C.4    Heilbut, A.5    Blumenthal, I.6    Mills, R.E.7    Kirby, A.8    Lindgren, A.M.9    Rudiger, S.R.10
  • 28
    • 84874936077 scopus 로고    scopus 로고
    • Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations
    • C. Schluth-Bolard, A. Labalme, M.P. Cordier, M. Till, G. Nadeau, H. Tevissen, G. Lesca, N. Boutry-Kryza, S. Rossignol, and D. Rocas et al. Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations J. Med. Genet. 50 2013 144 150
    • (2013) J. Med. Genet. , vol.50 , pp. 144-150
    • Schluth-Bolard, C.1    Labalme, A.2    Cordier, M.P.3    Till, M.4    Nadeau, G.5    Tevissen, H.6    Lesca, G.7    Boutry-Kryza, N.8    Rossignol, S.9    Rocas, D.10
  • 30
    • 79952284127 scopus 로고    scopus 로고
    • Hallmarks of cancer: The next generation
    • D. Hanahan, and R.A. Weinberg Hallmarks of cancer: the next generation Cell 144 2011 646 674
    • (2011) Cell , vol.144 , pp. 646-674
    • Hanahan, D.1    Weinberg, R.A.2
  • 34
    • 0036226603 scopus 로고    scopus 로고
    • BLAT - The BLAST-like alignment tool
    • W.J. Kent BLAT - the BLAST-like alignment tool Genome Res. 12 2002 656 664
    • (2002) Genome Res. , vol.12 , pp. 656-664
    • Kent, W.J.1
  • 36
    • 84883897500 scopus 로고    scopus 로고
    • ACMG clinical laboratory standards for next-generation sequencing
    • Working Group of the American College of Medical Genetics and Genomics Laboratory Quality Assurance Commitee
    • H.L. Rehm, S.J. Bale, P. Bayrak-Toydemir, J.S. Berg, K.K. Brown, J.L. Deignan, M.J. Friez, B.H. Funke, M.R. Hegde, E. Lyon Working Group of the American College of Medical Genetics and Genomics Laboratory Quality Assurance Commitee ACMG clinical laboratory standards for next-generation sequencing Genet. Med. 15 2013 733 747
    • (2013) Genet. Med. , vol.15 , pp. 733-747
    • Rehm, H.L.1    Bale, S.J.2    Bayrak-Toydemir, P.3    Berg, J.S.4    Brown, K.K.5    Deignan, J.L.6    Friez, M.J.7    Funke, B.H.8    Hegde, M.R.9    Lyon, E.10
  • 37
    • 84887611816 scopus 로고    scopus 로고
    • Next-generation sequencing in the clinic: Promises and challenges
    • J. Xuan, Y. Yu, T. Qing, L. Guo, and L. Shi Next-generation sequencing in the clinic: promises and challenges Cancer Lett. 340 2013 284 295
    • (2013) Cancer Lett. , vol.340 , pp. 284-295
    • Xuan, J.1    Yu, Y.2    Qing, T.3    Guo, L.4    Shi, L.5
  • 38
    • 79960783840 scopus 로고    scopus 로고
    • American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities
    • Working Group of the American College of Medical Genetics
    • H.M. Kearney, S.T. South, D.J. Wolff, A. Lamb, A. Hamosh, K.W. Rao Working Group of the American College of Medical Genetics American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities Genet. Med. 13 2011 676 679
    • (2011) Genet. Med. , vol.13 , pp. 676-679
    • Kearney, H.M.1    South, S.T.2    Wolff, D.J.3    Lamb, A.4    Hamosh, A.5    Rao, K.W.6
  • 39
    • 84878876131 scopus 로고    scopus 로고
    • American College of Medical Genetics and Genomics technical standards and guidelines: Microarray analysis for chromosome abnormalities in neoplastic disorders
    • Working Group of the American College of Medical Genetics and Genomics (ACMG) Laboratory Quality Assurance Committee
    • L.D. Cooley, M. Lebo, M.M. Li, M.L. Slovak, D.J. Wolff Working Group of the American College of Medical Genetics and Genomics (ACMG) Laboratory Quality Assurance Committee American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for chromosome abnormalities in neoplastic disorders Genet. Med. 15 2013 484 494
    • (2013) Genet. Med. , vol.15 , pp. 484-494
    • Cooley, L.D.1    Lebo, M.2    Li, M.M.3    Slovak, M.L.4    Wolff, D.J.5
  • 40
    • 84887416438 scopus 로고    scopus 로고
    • ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: Revision 2013
    • Working Group for the American College of Medical Genetics and Genomics Laboratory Quality Assurance Committee
    • S.T. South, C. Lee, A.N. Lamb, A.W. Higgins, H.M. Kearney Working Group for the American College of Medical Genetics and Genomics Laboratory Quality Assurance Committee ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013 Genet. Med. 15 2013 901 909
    • (2013) Genet. Med. , vol.15 , pp. 901-909
    • South, S.T.1    Lee, C.2    Lamb, A.N.3    Higgins, A.W.4    Kearney, H.M.5
  • 41
    • 84891783452 scopus 로고    scopus 로고
    • The Database of Genomic Variants: A curated collection of structural variation in the human genome
    • Database Issue
    • J.R. MacDonald, R. Ziman, R.K. Yuen, L. Feuk, and S.W. Scherer The Database of Genomic Variants: a curated collection of structural variation in the human genome Nucleic Acids Res. 42 Database issue 2014 D986 D992
    • (2014) Nucleic Acids Res. , vol.42
    • Macdonald, J.R.1    Ziman, R.2    Yuen, R.K.3    Feuk, L.4    Scherer, S.W.5
  • 44
    • 84892869125 scopus 로고    scopus 로고
    • Changing interpretation of chromosomal microarray over time in a community cohort with intellectual disability
    • E. Palmer, H. Speirs, P.J. Taylor, G. Mullan, G. Turner, S. Einfeld, B. Tonge, and D. Mowat Changing interpretation of chromosomal microarray over time in a community cohort with intellectual disability Am. J. Med. Genet. A. 164A 2014 377 385
    • (2014) Am. J. Med. Genet. A. , vol.164 A , pp. 377-385
    • Palmer, E.1    Speirs, H.2    Taylor, P.J.3    Mullan, G.4    Turner, G.5    Einfeld, S.6    Tonge, B.7    Mowat, D.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.