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Volumn 20, Issue 19, 2011, Pages 3769-3778

Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 22Q; CHROMOSOME 9Q; CHROMOSOME ABERRATION; CHROMOSOME BREAKAGE; CHROMOSOME MAP; CHROMOSOME REARRANGEMENT; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DNA REPLICATION; DOUBLE STRANDED DNA BREAK; FEMALE; GENETIC HETEROGENEITY; GENETIC RECOMBINATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; INTERSPERSED REPEAT; MALE; PRIORITY JOURNAL; TELOMERE;

EID: 80052760948     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr293     Document Type: Article
Times cited : (35)

References (77)
  • 2
    • 0013834960 scopus 로고
    • Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion
    • Hirschhorn, K., Cooper, H.L. and Firschein, I.L. (1965) Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion. Humangenetik, 1, 479-482.
    • (1965) Humangenetik , vol.1 , pp. 479-482
    • Hirschhorn, K.1    Cooper, H.L.2    Firschein, I.L.3
  • 5
    • 0025007621 scopus 로고
    • A truncated human chromosome 16 associated with alpha thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n
    • Wilkie, A.O., Lamb, J., Harris, P.C., Finney, R.D. and Higgs, D.R. (1990) A truncated human chromosome 16 associated with alpha thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n. Nature, 346, 868-871.
    • (1990) Nature , vol.346 , pp. 868-871
    • Wilkie, A.O.1    Lamb, J.2    Harris, P.C.3    Finney, R.D.4    Higgs, D.R.5
  • 6
    • 16044371402 scopus 로고    scopus 로고
    • A complete set of human telomeric probes and their clinical application
    • National Institutes of Health and Institute of Molecular Medicine Collaboration
    • National Institutes of Health and Institute of Molecular Medicine Collaboration (1996) A complete set of human telomeric probes and their clinical application. Nat. Genet., 14, 86-89.
    • (1996) Nat. Genet. , vol.14 , pp. 86-89
  • 8
    • 33745226965 scopus 로고    scopus 로고
    • Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities
    • Ravnan, J.B., Tepperberg, J.H., Papenhausen, P., Lamb, A.N., Hedrick, J., Eash, D., Ledbetter, D.H. and Martin, C.L. (2006) Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. J. Med. Genet., 43, 478-489.
    • (2006) J. Med. Genet. , vol.43 , pp. 478-489
    • Ravnan, J.B.1    Tepperberg, J.H.2    Papenhausen, P.3    Lamb, A.N.4    Hedrick, J.5    Eash, D.6    Ledbetter, D.H.7    Martin, C.L.8
  • 11
    • 33746167778 scopus 로고    scopus 로고
    • Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases
    • Shaffer, L.G., Kashork, C.D., Saleki, R., Rorem, E., Sundin, K., Ballif, B.C. and Bejjani, B.A. (2006) Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. J. Pediatr., 149, 98-102.
    • (2006) J. Pediatr. , vol.149 , pp. 98-102
    • Shaffer, L.G.1    Kashork, C.D.2    Saleki, R.3    Rorem, E.4    Sundin, K.5    Ballif, B.C.6    Bejjani, B.A.7
  • 12
    • 48849108010 scopus 로고    scopus 로고
    • Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray
    • Baldwin, E.L., Lee, J.Y., Blake, D.M., Bunke, B.P., Alexander, C.R., Kogan, A.L., Ledbetter, D.H. and Martin, C.L. (2008) Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray. Genet. Med., 10, 415-429.
    • (2008) Genet. Med. , vol.10 , pp. 415-429
    • Baldwin, E.L.1    Lee, J.Y.2    Blake, D.M.3    Bunke, B.P.4    Alexander, C.R.5    Kogan, A.L.6    Ledbetter, D.H.7    Martin, C.L.8
  • 16
    • 0042232610 scopus 로고    scopus 로고
    • Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions
    • Ballif, B.C., Yu, W., Shaw, C.A., Kashork, C.D. and Shaffer, L.G. (2003) Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions. Hum. Mol. Genet., 12, 2153-2165.
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 2153-2165
    • Ballif, B.C.1    Yu, W.2    Shaw, C.A.3    Kashork, C.D.4    Shaffer, L.G.5
  • 17
    • 1042269551 scopus 로고    scopus 로고
    • Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements
    • Ballif, B.C., Wakui, K., Gajecka, M. and Shaffer, L.G. (2004) Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements. Hum. Genet., 114, 198-206.
    • (2004) Hum. Genet. , vol.114 , pp. 198-206
    • Ballif, B.C.1    Wakui, K.2    Gajecka, M.3    Shaffer, L.G.4
  • 18
    • 33750557755 scopus 로고    scopus 로고
    • Identification of cryptic imbalance in phenotypically normal and abnormal translocation carriers
    • Gajecka, M., Glotzbach, C.D., Jarmuz, M., Ballif, B.C. and Shaffer, L.G. (2006) Identification of cryptic imbalance in phenotypically normal and abnormal translocation carriers. Eur. J. Hum. Genet., 14, 1255-1262.
    • (2006) Eur. J. Hum. Genet. , vol.14 , pp. 1255-1262
    • Gajecka, M.1    Glotzbach, C.D.2    Jarmuz, M.3    Ballif, B.C.4    Shaffer, L.G.5
  • 20
    • 55549126844 scopus 로고    scopus 로고
    • Unexpected complexity at breakpoint junctions in phenotypically normal individuals and mechanisms involved in generating balanced translocations t(1;22)(p36;q13)
    • Gajecka, M., Gentles, A.J., Tsai, A., Chitayat, D., Mackay, K.L., Glotzbach, C.D., Lieber, M.R. and Shaffer, L.G. (2008) Unexpected complexity at breakpoint junctions in phenotypically normal individuals and mechanisms involved in generating balanced translocations t(1;22)(p36;q13). Genome Res., 18, 1733-1742.
    • (2008) Genome Res. , vol.18 , pp. 1733-1742
    • Gajecka, M.1    Gentles, A.J.2    Tsai, A.3    Chitayat, D.4    Mackay, K.L.5    Glotzbach, C.D.6    Lieber, M.R.7    Shaffer, L.G.8
  • 21
    • 65549090043 scopus 로고    scopus 로고
    • Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome
    • Yatsenko, S.A., Brundage, E.K., Roney, E.K., Cheung, S.W., Chinault, A.C. and Lupski, J.R. (2009) Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome. Hum. Mol. Genet., 18, 1924-1936.
    • (2009) Hum. Mol. Genet. , vol.18 , pp. 1924-1936
    • Yatsenko, S.A.1    Brundage, E.K.2    Roney, E.K.3    Cheung, S.W.4    Chinault, A.C.5    Lupski, J.R.6
  • 28
    • 67649881934 scopus 로고    scopus 로고
    • High resolution genomic analysis of 18q- using oligo-microarray comparative genomic hybridization (aCGH)
    • Heard, P.L., Carter, E.M., Crandall, A.C., Sebold, C., Hale, D.E. and Cody, J.D. (2009) High resolution genomic analysis of 18q- using oligo-microarray comparative genomic hybridization (aCGH). Am. J. Med. Genet. A, 149A, 1431-1437.
    • (2009) Am. J. Med. Genet. A , vol.149 A , pp. 1431-1437
    • Heard, P.L.1    Carter, E.M.2    Crandall, A.C.3    Sebold, C.4    Hale, D.E.5    Cody, J.D.6
  • 30
    • 0031731487 scopus 로고    scopus 로고
    • Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits
    • Lupski, J.R. (1998) Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet., 14, 417-422.
    • (1998) Trends Genet , vol.14 , pp. 417-422
    • Lupski, J.R.1
  • 31
    • 0042839614 scopus 로고    scopus 로고
    • Mechanism and regulation of human non-homologous DNA end-joining
    • Lieber, M.R., Ma, Y., Pannicke, U. and Schwarz, K. (2003) Mechanism and regulation of human non-homologous DNA end-joining. Nat. Rev. Mol. Cell. Biol., 4, 712-720.
    • (2003) Nat. Rev. Mol. Cell. Biol. , vol.4 , pp. 712-720
    • Lieber, M.R.1    Ma, Y.2    Pannicke, U.3    Schwarz, K.4
  • 32
    • 19344370467 scopus 로고    scopus 로고
    • Mechanism of DNA double-strand break repair by non-homologous end joining
    • Hefferin, M.L. and Tomkinson, A.E. (2005) Mechanism of DNA double-strand break repair by non-homologous end joining. DNA Repair (Amst), 4, 639-648.
    • (2005) DNA Repair (Amst) , vol.4 , pp. 639-648
    • Hefferin, M.L.1    Tomkinson, A.E.2
  • 33
    • 54849404458 scopus 로고    scopus 로고
    • MMEJ repair of double-strand breaks (director's cut): deleted sequences and alternative endings
    • McVey, M. and Lee, S.E. (2008) MMEJ repair of double-strand breaks (director's cut): deleted sequences and alternative endings. Trends Genet., 24, 529-538.
    • (2008) Trends Genet , vol.24 , pp. 529-538
    • McVey, M.1    Lee, S.E.2
  • 34
    • 0031737723 scopus 로고    scopus 로고
    • Chromosome break-induced DNA replication leads to nonreciprocal translocations and telomere capture
    • Bosco, G. and Haber, J.E. (1998) Chromosome break-induced DNA replication leads to nonreciprocal translocations and telomere capture. Genetics, 150, 1037-1047.
    • (1998) Genetics , vol.150 , pp. 1037-1047
    • Bosco, G.1    Haber, J.E.2
  • 35
    • 25444522500 scopus 로고    scopus 로고
    • Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversions
    • Chen, J.M., Chuzhanova, N., Stenson, P.D., Ferec, C. and Cooper, D.N. (2005) Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversions. Hum. Mutat., 26, 362-373.
    • (2005) Hum. Mutat. , vol.26 , pp. 362-373
    • Chen, J.M.1    Chuzhanova, N.2    Stenson, P.D.3    Ferec, C.4    Cooper, D.N.5
  • 36
    • 33745474120 scopus 로고    scopus 로고
    • Break-induced replication and recombinational telomere elongation in yeast
    • McEachern, M.J. and Haber, J.E. (2006) Break-induced replication and recombinational telomere elongation in yeast. Annu. Rev. Biochem., 75, 111-135.
    • (2006) Annu. Rev. Biochem. , vol.75 , pp. 111-135
    • McEachern, M.J.1    Haber, J.E.2
  • 37
    • 34247611513 scopus 로고    scopus 로고
    • Template switching during break-induced replication
    • Smith, C.E., Llorente, B. and Symington, L.S. (2007) Template switching during break-induced replication. Nature, 447, 102-105.
    • (2007) Nature , vol.447 , pp. 102-105
    • Smith, C.E.1    Llorente, B.2    Symington, L.S.3
  • 39
    • 0027494343 scopus 로고
    • De novo truncation of chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16)
    • Lamb, J., Harris, P.C., Wilkie, A.O., Wood, W.G., Dauwerse, J.G. and Higgs, D.R. (1993) De novo truncation of chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16). Am. J. Hum. Genet., 52, 668-676.
    • (1993) Am. J. Hum. Genet. , vol.52 , pp. 668-676
    • Lamb, J.1    Harris, P.C.2    Wilkie, A.O.3    Wood, W.G.4    Dauwerse, J.G.5    Higgs, D.R.6
  • 40
    • 0026037255 scopus 로고
    • Developmentally programmed healing of chromosomes by telomerase in Tetrahymena
    • Yu, G.L. and Blackburn, E.H. (1991) Developmentally programmed healing of chromosomes by telomerase in Tetrahymena. Cell, 67, 823-832.
    • (1991) Cell , vol.67 , pp. 823-832
    • Yu, G.L.1    Blackburn, E.H.2
  • 41
    • 0025808098 scopus 로고
    • Recognition of a chromosome truncation site associated with alpha-thalassaemia by human telomerase
    • Morin, G.B. (1991) Recognition of a chromosome truncation site associated with alpha-thalassaemia by human telomerase. Nature, 353, 454-456.
    • (1991) Nature , vol.353 , pp. 454-456
    • Morin, G.B.1
  • 42
    • 0030131123 scopus 로고    scopus 로고
    • Chromosome healing: spontaneous and programmed de novo telomere formation by telomerase
    • Melek, M. and Shippen, D.E. (1996) Chromosome healing: spontaneous and programmed de novo telomere formation by telomerase. Bioessays, 18, 301-308.
    • (1996) Bioessays , vol.18 , pp. 301-308
    • Melek, M.1    Shippen, D.E.2
  • 43
    • 37349109667 scopus 로고    scopus 로고
    • A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders
    • Lee, J.A., Carvalho, C.M. and Lupski, J.R. (2007) A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell, 131, 1235-1247.
    • (2007) Cell , vol.131 , pp. 1235-1247
    • Lee, J.A.1    Carvalho, C.M.2    Lupski, J.R.3
  • 45
    • 67649878596 scopus 로고    scopus 로고
    • The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans
    • Zhang, F., Khajavi, M., Connolly, A.M., Towne, C.F., Batish, S.D. and Lupski, J.R. (2009) The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. Nat. Genet., 41, 849-853.
    • (2009) Nat. Genet. , vol.41 , pp. 849-853
    • Zhang, F.1    Khajavi, M.2    Connolly, A.M.3    Towne, C.F.4    Batish, S.D.5    Lupski, J.R.6
  • 46
    • 61549098717 scopus 로고    scopus 로고
    • Replication stress induces genome-wide copy number changes in human cells that resemble polymorphic and pathogenic variants
    • Arlt, M.F., Mulle, J.G., Schaibley, V.M., Ragland, R.L., Durkin, S.G., Warren, S.T. and Glover, T.W. (2009) Replication stress induces genome-wide copy number changes in human cells that resemble polymorphic and pathogenic variants. Am. J. Hum. Genet., 84, 339-350.
    • (2009) Am. J. Hum. Genet. , vol.84 , pp. 339-350
    • Arlt, M.F.1    Mulle, J.G.2    Schaibley, V.M.3    Ragland, R.L.4    Durkin, S.G.5    Warren, S.T.6    Glover, T.W.7
  • 47
    • 24344442909 scopus 로고    scopus 로고
    • Human subtelomeres are hot spots of interchromosomal recombination and segmental duplication
    • Linardopoulou, E.V., Williams, E.M., Fan, Y., Friedman, C., Young, J.M. and Trask, B.J. (2005) Human subtelomeres are hot spots of interchromosomal recombination and segmental duplication. Nature, 437, 94-100.
    • (2005) Nature , vol.437 , pp. 94-100
    • Linardopoulou, E.V.1    Williams, E.M.2    Fan, Y.3    Friedman, C.4    Young, J.M.5    Trask, B.J.6
  • 49
    • 0031020786 scopus 로고    scopus 로고
    • Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation
    • Wong, A.C., Ning, Y., Flint, J., Clark, K., Dumanski, J.P., Ledbetter, D.H. and McDermid, H.E. (1997) Molecular characterization of a 130-kb terminal microdeletion at 22q in a child with mild mental retardation. Am. J. Hum. Genet., 60, 113-120.
    • (1997) Am. J. Hum. Genet. , vol.60 , pp. 113-120
    • Wong, A.C.1    Ning, Y.2    Flint, J.3    Clark, K.4    Dumanski, J.P.5    Ledbetter, D.H.6    McDermid, H.E.7
  • 54
    • 0034513406 scopus 로고    scopus 로고
    • Molecular mechanisms for constitutional chromosomal rearrangements in humans
    • Shaffer, L.G. and Lupski, J.R. (2000) Molecular mechanisms for constitutional chromosomal rearrangements in humans. Annu. Rev. Genet., 34, 297-329.
    • (2000) Annu. Rev. Genet. , vol.34 , pp. 297-329
    • Shaffer, L.G.1    Lupski, J.R.2
  • 58
    • 0021918948 scopus 로고
    • Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains
    • Lehrman, M.A., Schneider, W.J., Sudhof, T.C., Brown, M.S., Goldstein, J.L. and Russell, D.W. (1985) Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains. Science, 227, 140-146.
    • (1985) Science , vol.227 , pp. 140-146
    • Lehrman, M.A.1    Schneider, W.J.2    Sudhof, T.C.3    Brown, M.S.4    Goldstein, J.L.5    Russell, D.W.6
  • 59
    • 0028028057 scopus 로고
    • Alu-Alu recombination results in a duplication of seven exons in the lysyl hydroxylase gene in a patient with the type VI variant of Ehlers-Danlos syndrome
    • Pousi, B., Hautala, T., Heikkinen, J., Pajunen, L., Kivirikko, K.I. and Myllyla, R. (1994) Alu-Alu recombination results in a duplication of seven exons in the lysyl hydroxylase gene in a patient with the type VI variant of Ehlers-Danlos syndrome. Am. J. Hum. Genet., 55, 899-906.
    • (1994) Am. J. Hum. Genet. , vol.55 , pp. 899-906
    • Pousi, B.1    Hautala, T.2    Heikkinen, J.3    Pajunen, L.4    Kivirikko, K.I.5    Myllyla, R.6
  • 60
    • 0028970446 scopus 로고
    • Gene conversion as a secondary mechanism of short interspersed element (SINE) evolution
    • Kass, D.H., Batzer, M.A. and Deininger, P.L. (1995) Gene conversion as a secondary mechanism of short interspersed element (SINE) evolution. Mol. Cell. Biol., 15, 19-25.
    • (1995) Mol. Cell. Biol. , vol.15 , pp. 19-25
    • Kass, D.H.1    Batzer, M.A.2    Deininger, P.L.3
  • 61
    • 0033785321 scopus 로고    scopus 로고
    • Divergent outcomes of intrachromosomal recombination on the human Y chromosome: male infertility and recurrent polymorphism
    • Blanco, P., Shlumukova, M., Sargent, C.A., Jobling, M.A., Affara, N. and Hurles, M.E. (2000) Divergent outcomes of intrachromosomal recombination on the human Y chromosome: male infertility and recurrent polymorphism. J. Med. Genet., 37, 752-758.
    • (2000) J. Med. Genet. , vol.37 , pp. 752-758
    • Blanco, P.1    Shlumukova, M.2    Sargent, C.A.3    Jobling, M.A.4    Affara, N.5    Hurles, M.E.6
  • 64
    • 79959507421 scopus 로고    scopus 로고
    • Subtelomeres: Evolution in the Human Genome
    • Kehrer-Sawatzki (ed), John Wiley & Sons, Ltd
    • Rudd, M.K. (2007) Subtelomeres: Evolution in the Human Genome. In Kehrer-Sawatzki (ed), Encyclopedia of Life Sciences. John Wiley & Sons, Ltd.
    • (2007) Encyclopedia of Life Sciences
    • Rudd, M.K.1
  • 66
    • 33750565406 scopus 로고    scopus 로고
    • Identification of sequence motifs at the breakpoint junctions in three t(1;9)(p36.3;q34) and delineation of mechanisms involved in generating balanced translocations
    • Gajecka, M., Pavlicek, A., Glotzbach, C.D., Ballif, B.C., Jarmuz, M., Jurka, J. and Shaffer, L.G. (2006) Identification of sequence motifs at the breakpoint junctions in three t(1;9)(p36.3;q34) and delineation of mechanisms involved in generating balanced translocations. Hum. Genet., 120, 519-526.
    • (2006) Hum. Genet. , vol.120 , pp. 519-526
    • Gajecka, M.1    Pavlicek, A.2    Glotzbach, C.D.3    Ballif, B.C.4    Jarmuz, M.5    Jurka, J.6    Shaffer, L.G.7
  • 67
    • 0034303523 scopus 로고    scopus 로고
    • The origins, patterns and implications of human spontaneous mutation
    • Crow, J.F. (2000) The origins, patterns and implications of human spontaneous mutation. Nat. Rev. Genet., 1, 40-47.
    • (2000) Nat. Rev. Genet. , vol.1 , pp. 40-47
    • Crow, J.F.1
  • 69
    • 0031040866 scopus 로고    scopus 로고
    • Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome
    • Lo Nigro, C., Chong, C.S., Smith, A.C., Dobyns, W.B., Carrozzo, R. and Ledbetter, D.H. (1997) Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. Hum. Mol. Genet., 6, 157-164.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 157-164
    • Lo Nigro, C.1    Chong, C.S.2    Smith, A.C.3    Dobyns, W.B.4    Carrozzo, R.5    Ledbetter, D.H.6
  • 73
    • 0037373130 scopus 로고    scopus 로고
    • Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2
    • Zollino, M., Lecce, R., Fischetto, R., Murdolo, M., Faravelli, F., Selicorni, A., Butte, C., Memo, L., Capovilla, G. and Neri, G. (2003) Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2. Am. J. Hum. Genet., 72, 590-597.
    • (2003) Am. J. Hum. Genet. , vol.72 , pp. 590-597
    • Zollino, M.1    Lecce, R.2    Fischetto, R.3    Murdolo, M.4    Faravelli, F.5    Selicorni, A.6    Butte, C.7    Memo, L.8    Capovilla, G.9    Neri, G.10
  • 74
    • 73849099307 scopus 로고    scopus 로고
    • A gene dosage map of Chromosome 18: a map with clinical utility
    • Cody, J.D., Carter, E.M., Sebold, C., Heard, P.L. and Hale, D.E. (2009) A gene dosage map of Chromosome 18: a map with clinical utility. Genet. Med., 11, 778-782.
    • (2009) Genet. Med. , vol.11 , pp. 778-782
    • Cody, J.D.1    Carter, E.M.2    Sebold, C.3    Heard, P.L.4    Hale, D.E.5
  • 75
    • 34548691841 scopus 로고    scopus 로고
    • The evolution of molecular ruler analysis for characterizing telomere imbalances: from fluorescence in situ hybridization to array comparative genomic hybridization
    • Martin, C.L., Nawaz, Z., Baldwin, E.L., Wallace, E.J., Justice, A.N. and Ledbetter, D.H. (2007) The evolution of molecular ruler analysis for characterizing telomere imbalances: from fluorescence in situ hybridization to array comparative genomic hybridization. Genet. Med., 9, 566-573.
    • (2007) Genet. Med. , vol.9 , pp. 566-573
    • Martin, C.L.1    Nawaz, Z.2    Baldwin, E.L.3    Wallace, E.J.4    Justice, A.N.5    Ledbetter, D.H.6
  • 76
    • 55849152832 scopus 로고    scopus 로고
    • Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p
    • Hauge, X., Raca, G., Cooper, S., May, K., Spiro, R., Adam, M. and Martin, C.L. (2008) Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p. Genet. Med., 10, 599-611.
    • (2008) Genet. Med. , vol.10 , pp. 599-611
    • Hauge, X.1    Raca, G.2    Cooper, S.3    May, K.4    Spiro, R.5    Adam, M.6    Martin, C.L.7
  • 77
    • 0033555906 scopus 로고    scopus 로고
    • Tandem repeats finder: a program to analyze DNA sequences
    • Benson, G. (1999) Tandem repeats finder: a program to analyze DNA sequences. Nucleic Acids Res., 27, 573-580.
    • (1999) Nucleic Acids Res. , vol.27 , pp. 573-580
    • Benson, G.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.