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Volumn 123, Issue 1-4, 2009, Pages 270-277

Copy number variation and mosaicism

Author keywords

[No Author keywords available]

Indexed keywords

CHIMERA; DNA SEQUENCE; DUCHENNE MUSCULAR DYSTROPHY; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; GENE DELETION; GENE DUPLICATION; GENE FREQUENCY; GENE MUTATION; GENE REARRANGEMENT; GENETIC VARIABILITY; GENOME ANALYSIS; HUMAN; MONOZYGOTIC TWINS; MOSAICISM; NEUROFIBROMATOSIS; PRIORITY JOURNAL; REVIEW; SOMATIC MUTATION;

EID: 62549107514     PISSN: 14248581     EISSN: None     Source Type: Journal    
DOI: 10.1159/000184717     Document Type: Review
Times cited : (45)

References (72)
  • 1
    • 0034650292 scopus 로고    scopus 로고
    • Measurement of locus copy number by hybridization with amplifiable probes
    • Armour JA, Sismani C, Patsalis PC, Cross G: Measurement of locus copy number by hybridization with amplifiable probes. Nucleic Acids Res 28:605-609 (2000).
    • (2000) Nucleic Acids Res , vol.28 , pp. 605-609
    • Armour, J.A.1    Sismani, C.2    Patsalis, P.C.3    Cross, G.4
  • 2
    • 0036409283 scopus 로고    scopus 로고
    • The detection of large deletions or duplications in genomic DNA
    • Armour JA, Barton DE, Cockburn DJ, Taylor GR: The detection of large deletions or duplications in genomic DNA. Hum Mutat 20:325-337 (2002).
    • (2002) Hum Mutat , vol.20 , pp. 325-337
    • Armour, J.A.1    Barton, D.E.2    Cockburn, D.J.3    Taylor, G.R.4
  • 4
    • 0024313863 scopus 로고
    • Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations
    • Bakker E, Veenema H, den Dunnen JT, van Broeckhoven C, Grootscholten PM, et al: Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations. J Med Genet 26:553-559 (1989).
    • (1989) J Med Genet , vol.26 , pp. 553-559
    • Bakker, E.1    Veenema, H.2    den Dunnen, J.T.3    van Broeckhoven, C.4    Grootscholten, P.M.5
  • 6
    • 33845274890 scopus 로고    scopus 로고
    • Detection of low-level mosaicism by array CGH in routine diagnostic specimens
    • Ballif BC, Rorem EA, Sundin K, Lincicum M, Gaskin S, et al: Detection of low-level mosaicism by array CGH in routine diagnostic specimens. Am J Med Genet 140:2757-2767 (2006).
    • (2006) Am J Med Genet , vol.140 , pp. 2757-2767
    • Ballif, B.C.1    Rorem, E.A.2    Sundin, K.3    Lincicum, M.4    Gaskin, S.5
  • 7
    • 33947597629 scopus 로고    scopus 로고
    • Chimerism in the immunohematology laboratory in the molecular biology era
    • Bluth MH, Reid ME, Manny N: Chimerism in the immunohematology laboratory in the molecular biology era. Transfus Med Rev 21:134-146 (2007).
    • (2007) Transfus Med Rev , vol.21 , pp. 134-146
    • Bluth, M.H.1    Reid, M.E.2    Manny, N.3
  • 8
    • 40849109768 scopus 로고    scopus 로고
    • Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles
    • Bruder CE, Piotrowski A, Gijsbers AA, Andersson R, Erickson S, et al: Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet 82:763-771 (2008).
    • (2008) Am J Hum Genet , vol.82 , pp. 763-771
    • Bruder, C.E.1    Piotrowski, A.2    Gijsbers, A.A.3    Andersson, R.4    Erickson, S.5
  • 9
    • 0027473179 scopus 로고
    • Towards a molecular description of pulsed-field gel electrophoresis
    • Bustamante C, Gurrieri S, Smith SB: Towards a molecular description of pulsed-field gel electrophoresis. Trend Biotech 11:23-30 (1993).
    • (1993) Trend Biotech , vol.11 , pp. 23-30
    • Bustamante, C.1    Gurrieri, S.2    Smith, S.B.3
  • 10
    • 44349191457 scopus 로고    scopus 로고
    • Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing
    • Campbell PJ, Stephens PJ, Pleasance ED, O'Meara S, Li H, et al: Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing. Nat Genet 40:722-729 (2008).
    • (2008) Nat Genet , vol.40 , pp. 722-729
    • Campbell, P.J.1    Stephens, P.J.2    Pleasance, E.D.3    O'Meara, S.4    Li, H.5
  • 11
    • 34347339520 scopus 로고    scopus 로고
    • Methods and strategies for analyzing copy number variation using DNA microarrays
    • Carter NP: Methods and strategies for analyzing copy number variation using DNA microarrays. Nat Genet 39:S16-21 (2007).
    • (2007) Nat Genet , vol.39
    • Carter, N.P.1
  • 13
    • 34547697696 scopus 로고    scopus 로고
    • Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics
    • Cheung SW, Shaw CA, Scott DA, Patel A, Sahoo T, et al: Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet 143:1679-1686 (2007).
    • (2007) Am J Med Genet , vol.143 , pp. 1679-1686
    • Cheung, S.W.1    Shaw, C.A.2    Scott, D.A.3    Patel, A.4    Sahoo, T.5
  • 14
    • 0023194295 scopus 로고
    • Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels
    • den Dunnen JT, Bakker E, Breteler EG, Pearson PL, van Ommen GJ: Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels. Nature 329:640-642 (1987).
    • (1987) Nature , vol.329 , pp. 640-642
    • den Dunnen, J.T.1    Bakker, E.2    Breteler, E.G.3    Pearson, P.L.4    van Ommen, G.J.5
  • 15
    • 0024815723 scopus 로고
    • Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications
    • den Dunnen JT, Grootscholten PM, Bakker E, Blonden LA, Ginjaar HB, et al: Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Am J Hum Genet 45:835-847 (1989).
    • (1989) Am J Hum Genet , vol.45 , pp. 835-847
    • den Dunnen, J.T.1    Grootscholten, P.M.2    Bakker, E.3    Blonden, L.A.4    Ginjaar, H.B.5
  • 17
    • 0037342752 scopus 로고    scopus 로고
    • Somatic gene mutation and human disease other than cancer
    • Erickson RP: Somatic gene mutation and human disease other than cancer. Mutat Res 543:125-136 (2003).
    • (2003) Mutat Res , vol.543 , pp. 125-136
    • Erickson, R.P.1
  • 18
    • 0030943268 scopus 로고    scopus 로고
    • A 25-kb deletion in the 5′ region of the cytochrome b558 heavy chain gene (CYBB) in a patient with X-linked chronic granulomatous disease
    • Faizunnessa NN, Tsuchiya T, Kumatori A, Kurozumi H, Imajoh-Ohmi S, et al: A 25-kb deletion in the 5′ region of the cytochrome b558 heavy chain gene (CYBB) in a patient with X-linked chronic granulomatous disease. Hum Genet 99: 469-473 (1997).
    • (1997) Hum Genet , vol.99 , pp. 469-473
    • Faizunnessa, N.N.1    Tsuchiya, T.2    Kumatori, A.3    Kurozumi, H.4    Imajoh-Ohmi, S.5
  • 20
    • 35548930805 scopus 로고    scopus 로고
    • High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints
    • Gervasini C, Castronovo P, Bentivegna A, Mottadelli F, Faravelli F, et al: High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints. Genomics 90:567-573 (2007).
    • (2007) Genomics , vol.90 , pp. 567-573
    • Gervasini, C.1    Castronovo, P.2    Bentivegna, A.3    Mottadelli, F.4    Faravelli, F.5
  • 21
    • 0023754181 scopus 로고
    • Review and hypotheses: Somatic mosaicism: observations related to clinical genetics
    • Hall JG: Review and hypotheses: somatic mosaicism: observations related to clinical genetics. Am J Hum Genet 43:355-363 (1988).
    • (1988) Am J Hum Genet , vol.43 , pp. 355-363
    • Hall, J.G.1
  • 22
    • 0023926195 scopus 로고
    • A somatic mosaic for haemophilia A detected at the DNA level
    • Higuchi M, Kochhan L, Olek K: A somatic mosaic for haemophilia A detected at the DNA level. Mol Biol Med 5:23-27 (1988).
    • (1988) Mol Biol Med , vol.5 , pp. 23-27
    • Higuchi, M.1    Kochhan, L.2    Olek, K.3
  • 23
    • 0142209189 scopus 로고    scopus 로고
    • In vivo reversion to normal of inherited mutations in humans
    • Hirschhorn R: In vivo reversion to normal of inherited mutations in humans. J Med Genet 40:721-728 (2003).
    • (2003) J Med Genet , vol.40 , pp. 721-728
    • Hirschhorn, R.1
  • 24
    • 15444370412 scopus 로고    scopus 로고
    • MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: Potential and pitfalls
    • Janssen B, Hartmann C, Scholz V, Jauch A, Zschocke J: MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls. Neurogenetics 6:29-35 (2005).
    • (2005) Neurogenetics , vol.6 , pp. 29-35
    • Janssen, B.1    Hartmann, C.2    Scholz, V.3    Jauch, A.4    Zschocke, J.5
  • 25
    • 4143082585 scopus 로고    scopus 로고
    • High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene
    • Kehrer-Sawatzki H, Kluwe L, Sandig C, Kohn M, Wimmer K, et al: High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene. Am J Hum Genet 75:410-423 (2004).
    • (2004) Am J Hum Genet , vol.75 , pp. 410-423
    • Kehrer-Sawatzki, H.1    Kluwe, L.2    Sandig, C.3    Kohn, M.4    Wimmer, K.5
  • 26
    • 0035205331 scopus 로고    scopus 로고
    • Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome
    • Kenwrick S, Woffendin H, Jakins T, Shuttleworth SG, Mayer E, et al: Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome. Am J Hum Genet 69:1210-1217 (2001).
    • (2001) Am J Hum Genet , vol.69 , pp. 1210-1217
    • Kenwrick, S.1    Woffendin, H.2    Jakins, T.3    Shuttleworth, S.G.4    Mayer, E.5
  • 27
    • 3543143611 scopus 로고    scopus 로고
    • Significance of chimerism in hematopoietic stem cell transplantation: New variations on an old theme
    • Khan F, Agarwal A, Agrawal S: Significance of chimerism in hematopoietic stem cell transplantation: new variations on an old theme. Bone Marrow Transplant 34:1-12 (2004).
    • (2004) Bone Marrow Transplant , vol.34 , pp. 1-12
    • Khan, F.1    Agarwal, A.2    Agrawal, S.3
  • 28
    • 43049143055 scopus 로고    scopus 로고
    • Mapping and sequencing of structural variation from eight human genomes
    • Kidd JM, Cooper GM, Donahue WF, Hayden HS, Sampas N, et al: Mapping and sequencing of structural variation from eight human genomes. Nature 453:56-64 (2008).
    • (2008) Nature , vol.453 , pp. 56-64
    • Kidd, J.M.1    Cooper, G.M.2    Donahue, W.F.3    Hayden, H.S.4    Sampas, N.5
  • 29
    • 0027749608 scopus 로고
    • Replication structure of the human beta-globin gene domain
    • Kitsberg D, Selig S, Keshet I, Cedar H: Replication structure of the human beta-globin gene domain. Nature 366:588-590 (1993).
    • (1993) Nature , vol.366 , pp. 588-590
    • Kitsberg, D.1    Selig, S.2    Keshet, I.3    Cedar, H.4
  • 30
    • 0026637764 scopus 로고
    • Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): Evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers
    • Klein CJ, Coovert DD, Bulman DE, Ray PN, Mendell JR, Burghes AH: Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers. Am J Hum Genet 50:950-959 (1992).
    • (1992) Am J Hum Genet , vol.50 , pp. 950-959
    • Klein, C.J.1    Coovert, D.D.2    Bulman, D.E.3    Ray, P.N.4    Mendell, J.R.5    Burghes, A.H.6
  • 31
    • 34247846201 scopus 로고    scopus 로고
    • Automated Duet spot counting system and manual technologist scoring using dual-fusion fluorescence in situ hybridization (D-FISH) strategy: Comparison and application to FISH minimal residual disease testing in patients with chronic myeloid leukemia
    • Knudson RA, Shearer BM, Ketterling RP: Automated Duet spot counting system and manual technologist scoring using dual-fusion fluorescence in situ hybridization (D-FISH) strategy: comparison and application to FISH minimal residual disease testing in patients with chronic myeloid leukemia. Cancer Genet Cytogenet 175:8-18 (2007).
    • (2007) Cancer Genet Cytogenet , vol.175 , pp. 8-18
    • Knudson, R.A.1    Shearer, B.M.2    Ketterling, R.P.3
  • 32
    • 34147099632 scopus 로고    scopus 로고
    • Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations
    • Kozlowski P, Roberts P, Dabora S, Franz D, Bissler J, et al: Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations. Hum Genet 121:389-400 (2007).
    • (2007) Hum Genet , vol.121 , pp. 389-400
    • Kozlowski, P.1    Roberts, P.2    Dabora, S.3    Franz, D.4    Bissler, J.5
  • 33
    • 0028779847 scopus 로고
    • Neurofibromatosis type 1 due to germ-line mosaicism in a clinically normal father
    • Lazaro C, Ravella A, Gaona A, Volpini V, Estivill X: Neurofibromatosis type 1 due to germ-line mosaicism in a clinically normal father. N Engl J Med 331:1403-1407 (1994).
    • (1994) N Engl J Med , vol.331 , pp. 1403-1407
    • Lazaro, C.1    Ravella, A.2    Gaona, A.3    Volpini, V.4    Estivill, X.5
  • 34
    • 7344231685 scopus 로고    scopus 로고
    • Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: Implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis
    • Lemmers RJ, van der Maarel SM, van Deutekom JC, van der Wielen MJ, Deidda G, et al: Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis. Hum Mol Genet 7:1207-1214 (1998).
    • (1998) Hum Mol Genet , vol.7 , pp. 1207-1214
    • Lemmers, R.J.1    van der Maarel, S.M.2    van Deutekom, J.C.3    van der Wielen, M.J.4    Deidda, G.5
  • 36
    • 3042637399 scopus 로고    scopus 로고
    • Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy
    • Lemmers RJ, Van Overveld PG, Sandkuijl LA, Vrieling H, Padberg GW, et al: Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy. Am J Hum Genet 75:44-53 (2004b).
    • (2004) Am J Hum Genet , vol.75 , pp. 44-53
    • Lemmers, R.J.1    Van Overveld, P.G.2    Sandkuijl, L.A.3    Vrieling, H.4    Padberg, G.W.5
  • 37
    • 0036082996 scopus 로고    scopus 로고
    • Current developments in human molecular cytogenetic techniques
    • Liehr T, Claussen U: Current developments in human molecular cytogenetic techniques. Curr Mol Med 2:283-297 (2002).
    • (2002) Curr Mol Med , vol.2 , pp. 283-297
    • Liehr, T.1    Claussen, U.2
  • 38
    • 35348956381 scopus 로고    scopus 로고
    • Persistence of fetal cells in the mother: Friend or foe?
    • Lissauer D, Piper KP, Moss PA, Kilby MD: Persistence of fetal cells in the mother: friend or foe? BJOG 114:1321-1325 (2007).
    • (2007) BJOG , vol.114 , pp. 1321-1325
    • Lissauer, D.1    Piper, K.P.2    Moss, P.A.3    Kilby, M.D.4
  • 39
    • 34547664096 scopus 로고    scopus 로고
    • Genomic disorders: Molecular mechanisms for rearrangements and conveyed phenotypes
    • Lupski JR, Stankiewicz P: Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet 1:e49 (2005).
    • (2005) PLoS Genet , vol.1
    • Lupski, J.R.1    Stankiewicz, P.2
  • 40
    • 0024370782 scopus 로고
    • Dystrophin. The gene and its product
    • Mandel JL: Dystrophin. The gene and its product. Nature 339:584-586 (1989).
    • (1989) Nature , vol.339 , pp. 584-586
    • Mandel, J.L.1
  • 41
    • 0027366193 scopus 로고
    • Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen ( COL3A1 ) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring
    • Milewicz DM, Witz AM, Smith AC, Manchester DK, Waldstein G, Byers PH: Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen ( COL3A1 ) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring. Am J Hum Genet 53:62-70 (1993).
    • (1993) Am J Hum Genet , vol.53 , pp. 62-70
    • Milewicz, D.M.1    Witz, A.M.2    Smith, A.C.3    Manchester, D.K.4    Waldstein, G.5    Byers, P.H.6
  • 43
    • 0026781879 scopus 로고
    • Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk
    • Passos-Bueno MR, Bakker E, Kneppers AL, Takata RI, Rapaport D, et al: Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk. Am J Hum Genet 51:1150-1155 (1992).
    • (1992) Am J Hum Genet , vol.51 , pp. 1150-1155
    • Passos-Bueno, M.R.1    Bakker, E.2    Kneppers, A.L.3    Takata, R.I.4    Rapaport, D.5
  • 44
    • 0027474055 scopus 로고
    • Age-associated chromosome 21 loss in Down syndrome: Possible relevance to mosaicism and Alzheimer disease
    • Percy ME, Markovic VD, Dalton AJ, McLachlan DR, Berg JM, et al: Age-associated chromosome 21 loss in Down syndrome: possible relevance to mosaicism and Alzheimer disease. Am J Med Genet 45:584-588 (1993).
    • (1993) Am J Med Genet , vol.45 , pp. 584-588
    • Percy, M.E.1    Markovic, V.D.2    Dalton, A.J.3    McLachlan, D.R.4    Berg, J.M.5
  • 45
    • 0038502073 scopus 로고    scopus 로고
    • Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations
    • Petek E, Jenne DE, Smolle J, Binder B, Lasinger W, et al: Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations. J Med Genet 40:520-525 (2003).
    • (2003) J Med Genet , vol.40 , pp. 520-525
    • Petek, E.1    Jenne, D.E.2    Smolle, J.3    Binder, B.4    Lasinger, W.5
  • 46
  • 47
    • 0031799411 scopus 로고    scopus 로고
    • Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1
    • Rasmussen SA, Colman SD, Ho VT, Abernathy CR, Arn PH, et al: Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1. J Med Genet 35:468-471 (1998).
    • (1998) J Med Genet , vol.35 , pp. 468-471
    • Rasmussen, S.A.1    Colman, S.D.2    Ho, V.T.3    Abernathy, C.R.4    Arn, P.H.5
  • 49
    • 0033385702 scopus 로고    scopus 로고
    • CpG methylation reduces genomic instability
    • Rizwana R, Hahn PJ: CpG methylation reduces genomic instability. J Cell Sci 112:4513-4519 (1999).
    • (1999) J Cell Sci , vol.112 , pp. 4513-4519
    • Rizwana, R.1    Hahn, P.J.2
  • 51
    • 0026087355 scopus 로고
    • Tetrasomy 12p (Pallister-Killian syndrome)
    • Schinzel A: Tetrasomy 12p (Pallister-Killian syndrome). J Med Genet 28:122-125 (1991).
    • (1991) J Med Genet , vol.28 , pp. 122-125
    • Schinzel, A.1
  • 53
    • 0033909888 scopus 로고    scopus 로고
    • Mosaicism in von Hippel-Lindau disease: Lessons from kindreds with germline mutations identified in offspring with mosaic parents
    • Sgambati MT, Stolle C, Choyke PL, Walther MM, Zbar B, et al: Mosaicism in von Hippel-Lindau disease: lessons from kindreds with germline mutations identified in offspring with mosaic parents. Am J Hum Genet 66:84-91 (2000).
    • (2000) Am J Hum Genet , vol.66 , pp. 84-91
    • Sgambati, M.T.1    Stolle, C.2    Choyke, P.L.3    Walther, M.M.4    Zbar, B.5
  • 54
    • 33751551424 scopus 로고    scopus 로고
    • Medical applications of array CGH and the transformation of clinical cytogenetics
    • Shaffer LG, Bejjani BA: Medical applications of array CGH and the transformation of clinical cytogenetics. Cytogenet Genome Res 115:303-309 (2006).
    • (2006) Cytogenet Genome Res , vol.115 , pp. 303-309
    • Shaffer, L.G.1    Bejjani, B.A.2
  • 55
    • 0031959590 scopus 로고    scopus 로고
    • Frequency of somatic and germ-line mosaicism in retinoblastoma: Implications for genetic counseling
    • Sippel KC, Fraioli RE, Smith GD, Schalkoff ME, Sutherland J, et al: Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling. Am J Hum Genet 62:610-619 (1998).
    • (1998) Am J Hum Genet , vol.62 , pp. 610-619
    • Sippel, K.C.1    Fraioli, R.E.2    Smith, G.D.3    Schalkoff, M.E.4    Sutherland, J.5
  • 56
    • 34147112939 scopus 로고    scopus 로고
    • Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father
    • Smyk M, Obersztyn E, Nowakowska B, Bocian E, Cheung SW, et al: Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father. Am J Med Genet 143:866-870 (2007).
    • (2007) Am J Med Genet , vol.143 , pp. 866-870
    • Smyk, M.1    Obersztyn, E.2    Nowakowska, B.3    Bocian, E.4    Cheung, S.W.5
  • 57
    • 36749092844 scopus 로고    scopus 로고
    • Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination
    • Steinmann K, Cooper DN, Kluwe L, Chuzhanova NA, Senger C, et al: Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination. Am J Hum Genet 81:1201-1220 (2007).
    • (2007) Am J Hum Genet , vol.81 , pp. 1201-1220
    • Steinmann, K.1    Cooper, D.N.2    Kluwe, L.3    Chuzhanova, N.A.4    Senger, C.5
  • 58
    • 0032518748 scopus 로고    scopus 로고
    • A true hermaphrodite chimera resulting from embryo amalgamation after in vitro fertilization
    • Strain L, Dean JC, Hamilton MP, Bonthron DT: A true hermaphrodite chimera resulting from embryo amalgamation after in vitro fertilization. N Engl J Med 338:166-169 (1998).
    • (1998) N Engl J Med , vol.338 , pp. 166-169
    • Strain, L.1    Dean, J.C.2    Hamilton, M.P.3    Bonthron, D.T.4
  • 59
    • 0029984970 scopus 로고    scopus 로고
    • Evidence for anticipation and association of deletion size with severity in facioscapulo-humeral muscular dystrophy. The FSH-DY Group
    • Tawil R, Forrester J, Griggs RC, Mendell J, Kissel J, et al: Evidence for anticipation and association of deletion size with severity in facioscapulo-humeral muscular dystrophy. The FSH-DY Group. Annal Neurol 39:744-748 (1996).
    • (1996) Annal Neurol , vol.39 , pp. 744-748
    • Tawil, R.1    Forrester, J.2    Griggs, R.C.3    Mendell, J.4    Kissel, J.5
  • 60
    • 0031915927 scopus 로고    scopus 로고
    • Facioscapulohumeral dystrophy: A distinct regional myopathy with a novel molecular pathogenesis. FSH Consortium
    • Tawil R, Figlewicz DA, Griggs RC, Weiffenbach B: Facioscapulohumeral dystrophy: a distinct regional myopathy with a novel molecular pathogenesis. FSH Consortium. Annal Neurol 43: 279-282 (1998).
    • (1998) Annal Neurol , vol.43 , pp. 279-282
    • Tawil, R.1    Figlewicz, D.A.2    Griggs, R.C.3    Weiffenbach, B.4
  • 62
    • 0033910121 scopus 로고    scopus 로고
    • De novo facioscapulohumeral muscular dystrophy: Frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10
    • van der Maarel SM, Deidda G, Lemmers RJ, van Overveld PG, van der Wielen M, et al: De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10. Am J Hum Genet 66:26-35 (2000).
    • (2000) Am J Hum Genet , vol.66 , pp. 26-35
    • van der Maarel, S.M.1    Deidda, G.2    Lemmers, R.J.3    van Overveld, P.G.4    van der Wielen, M.5
  • 63
    • 0027744223 scopus 로고
    • FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit
    • van Deutekom JC, Wijmenga C, van Tienhoven EA, Gruter AM, Hewitt JE, et al: FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet 2:2037-2042 (1993).
    • (1993) Hum Mol Genet , vol.2 , pp. 2037-2042
    • van Deutekom, J.C.1    Wijmenga, C.2    van Tienhoven, E.A.3    Gruter, A.M.4    Hewitt, J.E.5
  • 66
    • 42249087308 scopus 로고    scopus 로고
    • The complete genome of an individual by massively parallel DNA sequencing
    • Wheeler DA, Srinivasan M, Egholm M, Shen Y, Chen L, et al: The complete genome of an individual by massively parallel DNA sequencing. Nature 452:872-876 (2008).
    • (2008) Nature , vol.452 , pp. 872-876
    • Wheeler, D.A.1    Srinivasan, M.2    Egholm, M.3    Shen, Y.4    Chen, L.5
  • 67
    • 33751541872 scopus 로고    scopus 로고
    • Copy number variation in the genome; the human DMD gene as an example
    • White SJ, den Dunnen JT: Copy number variation in the genome; the human DMD gene as an example. Cytogenet Genome Res 115:240-246 (2006).
    • (2006) Cytogenet Genome Res , vol.115 , pp. 240-246
    • White, S.J.1    den Dunnen, J.T.2
  • 69
    • 0026922062 scopus 로고
    • Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy
    • Wijmenga C, Hewitt JE, Sandkuijl LA, Clark LN, Wright TJ, et al: Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet 2:26-30 (1992).
    • (1992) Nat Genet , vol.2 , pp. 26-30
    • Wijmenga, C.1    Hewitt, J.E.2    Sandkuijl, L.A.3    Clark, L.N.4    Wright, T.J.5
  • 70
    • 0036789093 scopus 로고    scopus 로고
    • Mechanisms and consequences of somatic mosaicism in humans
    • Youssoufian H, Pyeritz RE: Mechanisms and consequences of somatic mosaicism in humans. Nat Rev 3:748-758 (2002).
    • (2002) Nat Rev , vol.3 , pp. 748-758
    • Youssoufian, H.1    Pyeritz, R.E.2
  • 71
    • 35348917174 scopus 로고    scopus 로고
    • Chimerism and tetragametic chimerism in humans: Implications in autoimmunity, allorecognition and tolerance
    • Yunis EJ, Zuniga J, Romero V, Yunis EJ: Chimerism and tetragametic chimerism in humans: implications in autoimmunity, allorecognition and tolerance. Immunol Res 38:213-236 (2007).
    • (2007) Immunol Res , vol.38 , pp. 213-236
    • Yunis, E.J.1    Zuniga, J.2    Romero, V.3    Yunis, E.J.4
  • 72
    • 0028833769 scopus 로고
    • High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families
    • Zatz M, Marie SK, Passos-Bueno MR, Vainzof M, Campiotto S, et al: High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families. Am J Hum Genet 56:99-105 (1995).
    • (1995) Am J Hum Genet , vol.56 , pp. 99-105
    • Zatz, M.1    Marie, S.K.2    Passos-Bueno, M.R.3    Vainzof, M.4    Campiotto, S.5


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