SEARCH

SEARCH BY CITATION

References

  • Arlt MF, Wilson TE, Glover TW. 2012. Replication stress and mechanisms of CNV formation. Curr Opin Genet Dev 22(3):204210.
  • Bailey JA, Liu G, Eichler EE. 2003. An Alu transposition model for the origin and expansion of human segmental duplications. Am J Hum Genet 73(4):823834.
  • Bauters M, Van Esch H, Friez MJ, Boespflug-Tanguy O, Zenker M, Vianna-Morgante AM, Rosenberg C, Ignatius J, Raynaud M, Hollanders K, Govaerts K, Vandenreijt K, et al. 2008. Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. Genome Res 18(6):847858.
  • Becker EB, Fogel BL, Rajakulendran S, Dulneva A, Hanna MG, Perlman SL, Geschwind DH, Davies KE. 2011. Candidate screening of the TRPC3 gene in cerebellar ataxia. Cerebellum 10(2):296299.
  • Brussino A, Vaula G, Cagnoli C, Mauro A, Pradotto L, Daniele D, Di Gregorio E, Barberis M, Arduino C, Squadrone S, Abete MC, Migone N, et al. 2009a. A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy. J Neurol Neurosurg Psychiatry 80(2):237240.
  • Brussino A, Vaula G, Cagnoli C, Panza E, Seri M, Di Gregorio E, Scappaticci S, Camanini S, Daniele D, Bradac GB, Pinessi L, Cavalieri S, et al. 2009b. A family with autosomal dominant leukodystrophy linked to 5q23.2–q23.3 without lamin B1 mutations. Eur J Neurol 17(4):541549.
  • Carvalho CM, Ramocki MB, Pehlivan D, Franco LM, Gonzaga-Jauregui C, Fang P, McCall A, Pivnick EK, Hines-Dowell S, Seaver LH, Friehling L, Lee S, et al. 2011. Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome. Nat Genet 43(11):10741081.
  • Carvalho CM, Zhang F, Liu P, Patel A, Sahoo T, Bacino CA, Shaw C, Peacock S, Pursley A, Tavyev YJ, Ramocki MB, Nawara M, et al. 2009. Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet 18(12):21882203.
  • Coffeen CM, McKenna CE, Koeppen AH, Plaster NM, Maragakis N, Mihalopoulos J, Schwankhaus JD, Flanigan KM, Gregg RG, Ptacek LJ, Fu YH. 2000. Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31. Hum Mol Genet 9(5):787793.
  • Dos Santos MM, Grond-Ginsbach C, Aksay SS, Chen B, Tchatchou S, Wolf NI, van der Knaap MS, Grau AJ. 2012. Adult-onset autosomal dominant leukodystrophy due to LMNB1 gene duplication. J Neurol 259(3):579581.
  • Fiorenza MT, Bevilacqua A, Bevilacqua S, Mangia F. 2001. Growing dictyate oocytes, but not early preimplantation embryos, of the mouse display high levels of DNA homologous recombination by single-strand annealing and lack DNA nonhomologous end joining. Dev Biol 233(1):214224.
  • Fogel BL, Lee JY, Lane J, Wahnich A, Chan S, Huang A, Osborn GE, Klein E, Mamah C, Perlman S, Geschwind DH, Coppola G. 2012. Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia. Mov Disord 27(3):442446.
  • Guaraldi P, Donadio V, Capellari S, Contin M, Casadio MC, Montagna P, Liguori R, Cortelli P. 2011. Isolated noradrenergic failure in adult-onset autosomal dominant leukodystrophy. Auton Neurosci 159(1–2):123126.
  • Hastings PJ, Lupski JR, Rosenberg SM, Ira G. 2009. Mechanisms of change in gene copy number. Nat Rev Genet 10(8):551564.
  • Hastings PJ, Rosenberg SM. 2011. Genomic rearrangement in three dimensions. Nat Biotechnol 29(12):10961098.
  • Inoue K, Osaka H, Imaizumi K, Nezu A, Takanashi J, Arii J, Murayama K, Ono J, Kikawa Y, Mito T, Shaffer LG, Lupski JR. 1999. Proteolipid protein gene duplications causing Pelizaeus–Merzbacher disease: molecular mechanism and phenotypic manifestations. Ann Neurol 45(5):624632.
  • Katona I, Wu X, Feely SM, Sottile S, Siskind CE, Miller LJ, Shy ME, Li J. 2009. PMP22 expression in dermal nerve myelin from patients with CMT1A. Brain 132(Pt 7):17341740.
  • Lee JA, Carvalho CM, Lupski JR. 2007. A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell 131(7):12351247.
  • Lee JA, Inoue K, Cheung SW, Shaw CA, Stankiewicz P, Lupski JR. 2006. Role of genomic architecture in PLP1 duplication causing Pelizaeus–Merzbacher disease. Hum Mol Genet 15(14):22502265.
  • Lee JA, Lupski JR. 2006. Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders. Neuron 52(1):103121.
  • Li L, McVety S, Younan R, Liang P, Du Sart D, Gordon PH, Hutter P, Hogervorst FB, Chong G, Foulkes WD. 2006. Distinct patterns of germ-line deletions in MLH1 and MSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC). Hum Mutat 27(4):388.
  • Lieber MR. 2008. The mechanism of human nonhomologous DNA end joining. J Biol Chem 283(1):15.
  • Lin ST, Ptacek LJ, Fu YH. 2011. Adult-onset autosomal dominant leukodystrophy: linking nuclear envelope to myelin. J Neurosci 31(4):11631166.
  • Lobachev KS, Gordenin DA, Resnick MA. 2002. The Mre11 complex is required for repair of hairpin-capped double-strand breaks and prevention of chromosome rearrangements. Cell 108(2):183193.
  • McVey M, Lee SE. 2008. MMEJ repair of double-strand breaks (director's cut): deleted sequences and alternative endings. Trends Genet 24(11):529538.
  • Meijer IA, Simoes-Lopes AA, Laurent S, Katz T, St-Onge J, Verlaan DJ, Dupre N, Thibault M, Mathurin J, Bouchard JP, Rouleau GA. 2008. A novel duplication confirms the involvement of 5q23.2 in autosomal dominant leukodystrophy. Arch Neurol 65(11):14961501.
  • Melberg A, Hallberg L, Kalimo H, Raininko R. 2006. MR characteristics and neuropathology in adult-onset autosomal dominant leukodystrophy with autonomic symptoms. AJNR Am J Neuroradiol 27(4):904911.
  • O'Neil J, Tchinda J, Gutierrez A, Moreau L, Maser RS, Wong KK, Li W, McKenna K, Liu XS, Feng B, Neuberg D, Silverman L, et al. 2007. Alu elements mediate MYB gene tandem duplication in human T-ALL. J Exp Med 204(13):30593066.
  • Padiath QS, Fu YH. 2010. Autosomal dominant leukodystrophy caused by lamin B1 duplications a clinical and molecular case study of altered nuclear function and disease. Methods Cell Biol 98:337357.
  • Padiath QS, Saigoh K, Schiffmann R, Asahara H, Yamada T, Koeppen A, Hogan K, Ptacek LJ, Fu YH. 2006. Lamin B1 duplications cause autosomal dominant leukodystrophy. Nat Genet 38(10):11141123.
  • Schuster J, Sundblom J, Thuresson AC, Hassin-Baer S, Klopstock T, Dichgans M, Cohen OS, Raininko R, Melberg A, Dahl N. 2011. Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms. Neurogenetics 12(1):6572.
  • Sen SK, Han K, Wang J, Lee J, Wang H, Callinan PA, Dyer M, Cordaux R, Liang P, Batzer MA. 2006. Human genomic deletions mediated by recombination between Alu elements. Am J Hum Genet 79(1):4153.
  • Slack A, Thornton PC, Magner DB, Rosenberg SM, Hastings PJ. 2006. On the mechanism of gene amplification induced under stress in Escherichia coli. PLoS Genet 2(4):e48.
  • Stallings RL. 2007. Origin and functional significance of large-scale chromosomal imbalances in neuroblastoma. Cytogenet Genome Res 118(2–4):110115.
  • Stankiewicz P, Lupski JR. 2010. Structural variation in the human genome and its role in disease. Annu Rev Med 61:437455.
  • Sundblom J, Melberg A, Kalimo H, Smits A, Raininko R. 2009. MR imaging characteristics and neuropathology of the spinal cord in adult-onset autosomal dominant leukodystrophy with autonomic symptoms. AJNR Am J Neuroradiol 30(2):328335.
  • van Binsbergen E. 2011. Origins and breakpoint analyses of copy number variations: up close and personal. Cytogenet Genome Res 135(3–4):271276.
  • Vissers LE, Bhatt SS, Janssen IM, Xia Z, Lalani SR, Pfundt R, Derwinska K, de Vries BB, Gilissen C, Hoischen A, Nesteruk M, Wisniowiecka-Kowalnik B, et al. 2009. Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture. Hum Mol Genet 18(19):35793593.
  • Voineagu I, Narayanan V, Lobachev KS, Mirkin SM. 2008. Replication stalling at unsTable inverted repeats: interplay between DNA hairpins and fork stabilizing proteins. Proc Natl Acad Sci USA 105(29):99369941.
  • White SJ, den Dunnen JT. 2006. Copy number variation in the genome; the human DMD gene as an example. Cytogenet Genome Res 115(3–4):240246.
  • Woodward KJ, Cundall M, Sperle K, Sistermans EA, Ross M, Howell G, Gribble SM, Burford DC, Carter NP, Hobson DL, Garbern JY, Kamholz J, et al. 2005. Heterogeneous duplications in patients with Pelizaeus–Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination. Am J Hum Genet 77(6):966987.
  • Zhang F, Carvalho CM, Lupski JR. 2009a. Complex human chromosomal and genomic rearrangements. Trends Genet 25(7):298307.
  • Zhang F, Khajavi M, Connolly AM, Towne CF, Batish SD, Lupski JR. 2009b. The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. Nat Genet 41(7):849853.