TY - JOUR AU - Feenstra, I. AU - Vissers, L. E. AU - Orsel, M. PY - 2007 DA - 2007// TI - Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map JO - Am J Med Genet A VL - 143 UR - https://doi.org/10.1002/ajmg.a.31850 DO - 10.1002/ajmg.a.31850 ID - Feenstra2007 ER - TY - JOUR AU - Cody, J. D. AU - Heard, P. L. AU - Crandall, A. C. PY - 2009 DA - 2009// TI - Narrowing critical regions and determining penetrance for selected 18q- phenotypes JO - Am J Med Genet A VL - 149 UR - https://doi.org/10.1002/ajmg.a.32899 DO - 10.1002/ajmg.a.32899 ID - Cody2009 ER - TY - JOUR AU - Cody, J. D. AU - Semrud-Clikeman, M. AU - Hardies, L. J. PY - 2005 DA - 2005// TI - Growth hormone benefits children with 18q deletions JO - Am J Med Genet A VL - 137 UR - https://doi.org/10.1002/ajmg.a.30848 DO - 10.1002/ajmg.a.30848 ID - Cody2005 ER - TY - JOUR AU - Cody, J. D. AU - Ghidoni, P. D. AU - DuPont, B. R. PY - 1999 DA - 1999// TI - Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q JO - Am J Med Genet VL - 85 UR - https://doi.org/3.0.CO;2-Z DO - 3.0.CO;2-Z ID - Cody1999 ER - TY - JOUR AU - Kulikowski, L. D. AU - Yoshimoto, M. AU - da Silva Bellucco, F. T. PY - 2010 DA - 2010// TI - Cytogenetic molecular delineation of a terminal 18q deletion suggesting neo-telomere formation JO - Eur J Med Genet VL - 53 UR - https://doi.org/10.1016/j.ejmg.2010.08.007 DO - 10.1016/j.ejmg.2010.08.007 ID - Kulikowski2010 ER - TY - JOUR AU - Cody, J. D. AU - Sebold, C. AU - Heard, P. PY - 2015 DA - 2015// TI - Consequences of chromsome18q deletions JO - Am J Med Genet C Semin Med Genet VL - 169 UR - https://doi.org/10.1002/ajmg.c.31446 DO - 10.1002/ajmg.c.31446 ID - Cody2015 ER - TY - JOUR AU - Bi, W. AU - Cheung, S. W. AU - Breman, A. M. PY - 2016 DA - 2016// TI - 4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: new insights into mechanisms and critical regions JO - Am J Med Genet A VL - 170 UR - https://doi.org/10.1002/ajmg.a.37796 DO - 10.1002/ajmg.a.37796 ID - Bi2016 ER - TY - JOUR AU - Palumbo, O. AU - Palumbo, P. AU - Ferri, E. PY - 2015 DA - 2015// TI - Report of a patient and further clinical and molecular characterization of interstitial 4p16.3 microduplication JO - Mol Cytogenet VL - 8 UR - https://doi.org/10.1186/s13039-015-0119-6 DO - 10.1186/s13039-015-0119-6 ID - Palumbo2015 ER - TY - JOUR AU - Dai, Y. AU - Yang, J. AU - Chen, Y. PY - 2013 DA - 2013// TI - Microarray analysis of unbalanced translocation in wolf-Hirschhorn syndrome JO - Pediatr Int VL - 55 UR - https://doi.org/10.1111/j.1442-200X.2012.03684.x DO - 10.1111/j.1442-200X.2012.03684.x ID - Dai2013 ER - TY - JOUR AU - Partington, M. W. AU - Fagan, K. AU - Soubjaki, V. PY - 1997 DA - 1997// TI - Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome JO - J Med Genet VL - 34 UR - https://doi.org/10.1136/jmg.34.9.719 DO - 10.1136/jmg.34.9.719 ID - Partington1997 ER - TY - JOUR AU - Patel, S. V. AU - Dagnew, H. AU - Parekh, A. J. PY - 1995 DA - 1995// TI - Clinical manifestations of trisomy 4p syndrome JO - Eur J Pediatr VL - 154 UR - https://doi.org/10.1007/BF02029349 DO - 10.1007/BF02029349 ID - Patel1995 ER - TY - JOUR AU - Schonewolf-Greulich, B. AU - Ravn, K. AU - Hamborg-Petersen, B. PY - 2013 DA - 2013// TI - Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family JO - Am J Med Genet A VL - 161 UR - https://doi.org/10.1002/ajmg.a.36099 DO - 10.1002/ajmg.a.36099 ID - Schonewolf-Greulich2013 ER - TY - JOUR AU - Cyr, A. B. AU - Nimmakayalu, M. AU - Longmuir, S. Q. PY - 2011 DA - 2011// TI - A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features JO - Am J Med Genet A VL - 155 UR - https://doi.org/10.1002/ajmg.a.34120 DO - 10.1002/ajmg.a.34120 ID - Cyr2011 ER - TY - JOUR AU - Miller, G. AU - Mowrey, P. N. AU - Hopper, K. D. PY - 1990 DA - 1990// TI - Neurologic manifestation in 18q- syndrome JO - Am J Med Genet VL - 37 UR - https://doi.org/10.1002/ajmg.1320370130 DO - 10.1002/ajmg.1320370130 ID - Miller1990 ER - TY - JOUR AU - Gay, C. T. AU - Hardies, L. J. AU - Rauch, R. A. PY - 1997 DA - 1997// TI - Magnetic resonance imaging demonstrates incomplete myelination in 18q- syndrome: evidence for myelin basic protein haploinsufficiency JO - Am J Med Genet VL - 74 UR - https://doi.org/3.0.CO;2-K DO - 3.0.CO;2-K ID - Gay1997 ER - TY - JOUR AU - Feenstra, I. AU - Vissers, L. E. AU - Pennings, R. J. PY - 2011 DA - 2011// TI - Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans JO - Am J Hum Genet VL - 89 UR - https://doi.org/10.1016/j.ajhg.2011.11.008 DO - 10.1016/j.ajhg.2011.11.008 ID - Feenstra2011 ER - TY - JOUR AU - Liao, Y. P. AU - Liang, Y. H. AU - Dong, H. F. PY - 2010 DA - 2010// TI - 18q terminal deletion identified by high resolution chromosome and fluorescence in situ hybridization JO - Fudan Univ J Med Sci VL - 37 ID - Liao2010 ER - TY - JOUR AU - Filges, I. AU - Shimojima, K. AU - Okamoto, N. PY - 2011 DA - 2011// TI - Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel–Giedion syndrome JO - J Med Genet VL - 48 UR - https://doi.org/10.1136/jmg.2010.084582 DO - 10.1136/jmg.2010.084582 ID - Filges2011 ER - TY - JOUR AU - Marseglia, G. AU - Scordo, M. R. AU - Pescucci, C. PY - 2012 DA - 2012// TI - 372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment JO - Eur J Med Genet VL - 55 UR - https://doi.org/10.1016/j.ejmg.2012.01.005 DO - 10.1016/j.ejmg.2012.01.005 ID - Marseglia2012 ER - TY - JOUR AU - Wright, T. J. AU - Ricke, D. O. AU - Denison, K. PY - 1997 DA - 1997// TI - A transcript map of the newly defined 165 kb wolf-Hirschhorn syndrome critical region JO - Hum Mol Genet VL - 6 UR - https://doi.org/10.1093/hmg/6.2.317 DO - 10.1093/hmg/6.2.317 ID - Wright1997 ER - TY - JOUR AU - Zollino, M. AU - Lecce, R. AU - Fischetto, R. PY - 2003 DA - 2003// TI - Mapping the wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2 JO - Am J Hum Genet VL - 72 UR - https://doi.org/10.1086/367925 DO - 10.1086/367925 ID - Zollino2003 ER - TY - JOUR AU - Hannes, F. AU - Drozniewska, M. AU - Vermeesch, J. R. PY - 2010 DA - 2010// TI - Duplication of the wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay JO - Eur J Med Genet VL - 53 UR - https://doi.org/10.1016/j.ejmg.2010.02.004 DO - 10.1016/j.ejmg.2010.02.004 ID - Hannes2010 ER - TY - JOUR AU - Buchman, J. J. AU - Tsai, L. H. PY - 2007 DA - 2007// TI - Spindle regulation in neural precursors of flies and mammals JO - Nat Rev Neurosci VL - 8 UR - https://doi.org/10.1038/nrn2058 DO - 10.1038/nrn2058 ID - Buchman2007 ER - TY - JOUR AU - Yang, Y. T. AU - Wang, C. L. AU - Van Aelst, L. PY - 2012 DA - 2012// TI - DOCK7 interacts with TACC3 to regulate interkinetic nuclear migration and cortical neurogenesis JO - Nat Neurosci VL - 15 UR - https://doi.org/10.1038/nn.3171 DO - 10.1038/nn.3171 ID - Yang2012 ER - TY - JOUR AU - Peset, I. AU - Vernos, I. PY - 2008 DA - 2008// TI - The TACC proteins: TACC-ling microtubule dynamics and centrosome function JO - Trends Cell Biol VL - 18 UR - https://doi.org/10.1016/j.tcb.2008.06.005 DO - 10.1016/j.tcb.2008.06.005 ID - Peset2008 ER - TY - JOUR AU - Piekorz, R. P. AU - Hoffmeyer, A. AU - Duntsch, C. D. PY - 2002 DA - 2002// TI - The centrosomal protein TACC3 is essential for hematopoietic stem cell function and genetically interfaces with p53-regulated apoptosis JO - EMBO J VL - 21 UR - https://doi.org/10.1093/emboj/21.4.653 DO - 10.1093/emboj/21.4.653 ID - Piekorz2002 ER - TY - JOUR AU - Frazier, A. E. AU - Kiu, C. AU - Stojanovski, D. PY - 2006 DA - 2006// TI - Mitochondrial morphology and distribution in mammalian cells JO - Biol Chem VL - 387 UR - https://doi.org/10.1515/BC.2006.193 DO - 10.1515/BC.2006.193 ID - Frazier2006 ER - TY - JOUR AU - Nowikovsky, K. AU - Froschauer, E. M. AU - Zsurka, G. PY - 2004 DA - 2004// TI - The LETM1/YOL027 gene family encodes a factor of the mitochondrial K+ homeostasis with a potential role in the wolf-Hirschhorn syndrome JO - J Biol Chem VL - 279 UR - https://doi.org/10.1074/jbc.M403607200 DO - 10.1074/jbc.M403607200 ID - Nowikovsky2004 ER - TY - JOUR AU - McQuibban, A. G. AU - Joza, N. AU - Megighian, A. PY - 2010 DA - 2010// TI - A Drosophila mutant of LETM1, a candidate gene for seizures in wolf-Hirschhorn syndrome JO - Hum Mol Genet VL - 19 UR - https://doi.org/10.1093/hmg/ddp563 DO - 10.1093/hmg/ddp563 ID - McQuibban2010 ER -