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PY - 2012 DA - 2012// TI - Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region JO - Eur J Med Genet VL - 55 UR - https://doi.org/10.1016/j.ejmg.2012.02.013 DO - 10.1016/j.ejmg.2012.02.013 ID - Shimojima2012 ER - TY - JOUR AU - Fonseca, A. C. S. AU - Bonaldi, A. AU - Costa, S. S. AU - Freitas, M. R. AU - Kok, F. AU - Vianna-Morgante, A. M. PY - 2013 DA - 2013// TI - PLP1 duplication at the breakpoint regions of an apparently balanced t(X;22) translocation causes Pelizaeus-Merzbacher disease in a girl JO - Clin Genet VL - 83 UR - https://doi.org/10.1111/j.1399-0004.2012.01854.x DO - 10.1111/j.1399-0004.2012.01854.x ID - Fonseca2013 ER - TY - JOUR AU - Yiu, E. M. AU - Farrell, S. A. AU - Soman, T. 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PY - 2013 DA - 2013// TI - Inverted low-copy repeats and genome instability--a genome-wide analysis JO - Hum Mutat VL - 34 UR - https://doi.org/10.1002/humu.22217 DO - 10.1002/humu.22217 ID - Dittwald2013 ER - TY - JOUR AU - Bertelsen, B. AU - Tümer, Z. AU - Ravn, K. PY - 2011 DA - 2011// TI - Three new loci for determining X chromosome inactivation patterns JO - J Mol Diagn VL - 13 UR - https://doi.org/10.1016/j.jmoldx.2011.05.003 DO - 10.1016/j.jmoldx.2011.05.003 ID - Bertelsen2011 ER - TY - JOUR AU - Regis, S. AU - Grossi, S. AU - Corsolini, F. AU - Biancheri, R. AU - Filocamo, M. PY - 2009 DA - 2009// TI - PLP1 gene duplication causes overexpression and alteration of the PLP/DM20 splicing balance in fibroblasts from Pelizaeus-Merzbacher disease patients JO - Biochim Biophys Acta VL - 1792 UR - https://doi.org/10.1016/j.bbadis.2009.04.002 DO - 10.1016/j.bbadis.2009.04.002 ID - Regis2009 ER - TY - JOUR AU - Lee, J. A. AU - Carvalho, C. M. B. AU - Lupski, J. R. 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