TY - STD TI - Online Mendelian Inheritance in Man (OMIM). http://www.omim.org/statistics/entry. Accessed 13 Apr 2019. UR - http://www.omim.org/statistics/entry ID - ref1 ER - TY - JOUR AU - Lupski, J. R. AU - Stankiewicz, P. PY - 2005 DA - 2005// TI - Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes JO - PLoS Genet VL - 1 UR - https://doi.org/10.1371/journal.pgen.0010049 DO - 10.1371/journal.pgen.0010049 ID - Lupski2005 ER - TY - JOUR AU - Ardalan, A. AU - Prieur, M. AU - Choiset, A. AU - Turleau, C. AU - Goutieres, F. AU - Girard-Orgeolet, S. PY - 2005 DA - 2005// TI - Intrachromosomal insertion mimicking a pericentric inversion: molecular cytogenetic characterization of a three break rearrangement of chromosome 20 JO - Am J Med Genet A. VL - 138A UR - https://doi.org/10.1002/ajmg.a.30966 DO - 10.1002/ajmg.a.30966 ID - Ardalan2005 ER - TY - JOUR AU - Zhu, H. AU - Shang, D. AU - Sun, M. AU - Choi, S. AU - Liu, Q. AU - Hao, J. PY - 2011 DA - 2011// TI - X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3 JO - Am J Hum Genet VL - 88 UR - https://doi.org/10.1016/j.ajhg.2011.05.004 DO - 10.1016/j.ajhg.2011.05.004 ID - Zhu2011 ER - TY - JOUR AU - Bowl, M. R. AU - Nesbit, M. A. AU - Harding, B. AU - Levy, E. AU - Jefferson, A. AU - Volpi, E. PY - 2005 DA - 2005// TI - An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism JO - J Clin Invest. VL - 115 UR - https://doi.org/10.1172/JCI24156 DO - 10.1172/JCI24156 ID - Bowl2005 ER - TY - JOUR AU - Brewer, M. H. AU - Chaudhry, R. AU - Qi, J. AU - Kidambi, A. AU - Drew, A. P. AU - Menezes, M. P. PY - 2016 DA - 2016// TI - Whole genome sequencing identifies a 78 kb insertion from chromosome 8 as the cause of Charcot–Marie–Tooth neuropathy CMTX3 JO - PLoS Genet VL - 12 UR - https://doi.org/10.1371/journal.pgen.1006177 DO - 10.1371/journal.pgen.1006177 ID - Brewer2016 ER - TY - JOUR AU - DeStefano, G. M. AU - Fantauzzo, K. A. AU - Petukhova, L. AU - Kurban, M. AU - Tadin-Strapps, M. AU - Levy, B. PY - 2013 DA - 2013// TI - Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis JO - Proc Natl Acad Sci USA VL - 110 UR - https://doi.org/10.1073/pnas.1216412110 DO - 10.1073/pnas.1216412110 ID - DeStefano2013 ER - TY - JOUR AU - Haines, B. AU - Hughes, J. AU - Corbett, M. AU - Shaw, M. AU - Innes, J. AU - Patel, L. PY - 2015 DA - 2015// TI - Interchromosomal insertional translocation at Xq26.3 alters SOX3 expression in an individual with XX male sex reversal JO - J Clin Endocrinol Metab. VL - 100 UR - https://doi.org/10.1210/jc.2014-4383 DO - 10.1210/jc.2014-4383 ID - Haines2015 ER - TY - JOUR AU - Bunyan, D. J. AU - Robinson, D. O. AU - Tyers, A. G. AU - Huang, S. AU - Maloney, V. K. AU - Grand, F. H. PY - 2014 DA - 2014// TI - X-linked dominant congenital ptosis cosegregating with an interstitial insertion of a chromosome 1p21.3 fragment into a quasipalindromic sequence in Xq27.1 JO - Open J Genet VL - 04 UR - https://doi.org/10.4236/ojgen.2014.46039 DO - 10.4236/ojgen.2014.46039 ID - Bunyan2014 ER - TY - JOUR AU - Helena Mangs, A. AU - Morris, B. J. PY - 2007 DA - 2007// TI - The human pseudoautosomal region (PAR): origin, function and future JO - Curr Genomics. VL - 8 UR - https://doi.org/10.2174/138920207780368141 DO - 10.2174/138920207780368141 ID - Helena Mangs2007 ER - TY - JOUR AU - Cotter, D. J. AU - Brotman, S. M. AU - Wilson Sayres, M. A. PY - 2016 DA - 2016// TI - Genetic diversity on the human X chromosome does not support a strict pseudoautosomal boundary JO - Genetics VL - 203 UR - https://doi.org/10.1534/genetics.114.172692 DO - 10.1534/genetics.114.172692 ID - Cotter2016 ER - TY - JOUR AU - Fukami, M. AU - Naiki, Y. AU - Muroya, K. AU - Hamajima, T. AU - Soneda, S. AU - Horikawa, R. PY - 2015 DA - 2015// TI - Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature JO - J Hum Genet VL - 60 UR - https://doi.org/10.1038/jhg.2015.53 DO - 10.1038/jhg.2015.53 ID - Fukami2015 ER - TY - JOUR AU - Rey, G. AU - Jasper, H. AU - Bengolea, S. V. AU - Boywitt, A. AU - Bellis, R. AU - Heinrich, J. J. PY - 2010 DA - 2010// TI - Trisomy of the short stature homeobox-containing gene (SHOX) due to duplication/deletion of the X chomosome: clinical implications on the stature JO - Horm Res Paediatr. VL - 74 UR - https://doi.org/10.1159/000309418 DO - 10.1159/000309418 ID - Rey2010 ER - TY - JOUR AU - Iughetti, L. AU - Capone, L. AU - Elsedfy, H. AU - Bertorelli, R. AU - Predieri, B. AU - Bruzzi, P. PY - 2010 DA - 2010// TI - Unexpected phenotype in a boy with trisomy of the SHOX gene JO - J Pediatr Endocrinol Metab VL - 23 ID - Iughetti2010 ER - TY - JOUR AU - Carpenter, T. O. AU - Imel, E. A. AU - Holm, I. A. AU - Beur, S. M. AU - Insogna, K. L. PY - 2011 DA - 2011// TI - A clinician’s guide to X-linked hypophosphatemia JO - J Bone Miner Res. VL - 26 UR - https://doi.org/10.1002/jbmr.340 DO - 10.1002/jbmr.340 ID - Carpenter2011 ER - TY - JOUR AU - Blalock, D. AU - Miller, A. AU - Tilley, M. AU - Wang, J. PY - 2015 DA - 2015// TI - Joint instability and osteoarthritis JO - Clin Med Insights Arthritis Musculoskelet Disord. VL - 8 UR - https://doi.org/10.4137/CMAMD.S22147 DO - 10.4137/CMAMD.S22147 ID - Blalock2015 ER - TY - JOUR AU - Roche, M. AU - Elson, L. AU - Anderson, C. PY - 2014 DA - 2014// TI - Dynamic soft tissue balancing in total knee arthroplasty JO - Orthop Clin North Am VL - 45 UR - https://doi.org/10.1016/j.ocl.2013.11.001 DO - 10.1016/j.ocl.2013.11.001 ID - Roche2014 ER - TY - JOUR AU - Kurahashi, H. AU - Inagaki, H. AU - Ohye, T. AU - Kogo, H. AU - Kato, T. AU - Emanuel, B. S. PY - 2006 DA - 2006// TI - Palindrome-mediated chromosomal translocations in humans JO - DNA Repair (Amst). VL - 5 UR - https://doi.org/10.1016/j.dnarep.2006.05.035 DO - 10.1016/j.dnarep.2006.05.035 ID - Kurahashi2006 ER - TY - JOUR AU - Lee, H. E. AU - Ayarpadikannan, S. AU - Kim, H. S. PY - 2015 DA - 2015// TI - Role of transposable elements in genomic rearrangement, evolution, gene regulation and epigenetics in primates JO - Genes Genet Syst. VL - 90 UR - https://doi.org/10.1266/ggs.15-00016 DO - 10.1266/ggs.15-00016 ID - Lee2015 ER - TY - JOUR AU - Hastings, P. J. AU - Ira, G. AU - Lupski, J. R. PY - 2009 DA - 2009// TI - A microhomology-mediated break-induced replication model for the origin of human copy number variation JO - PLoS Genet VL - 5 UR - https://doi.org/10.1371/journal.pgen.1000327 DO - 10.1371/journal.pgen.1000327 ID - Hastings2009 ER - TY - JOUR AU - Liu, P. AU - Carvalho, C. M. AU - Hastings, P. J. AU - Lupski, J. R. PY - 2012 DA - 2012// TI - Mechanisms for recurrent and complex human genomic rearrangements JO - Curr Opin Genet Dev VL - 22 UR - https://doi.org/10.1016/j.gde.2012.02.012 DO - 10.1016/j.gde.2012.02.012 ID - Liu2012 ER - TY - JOUR AU - Lee, J. A. AU - Carvalho, C. M. AU - Lupski, J. R. PY - 2007 DA - 2007// TI - A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders JO - Cell VL - 131 UR - https://doi.org/10.1016/j.cell.2007.11.037 DO - 10.1016/j.cell.2007.11.037 ID - Lee2007 ER -