Jensen, L. R., H. Bartenschlager, S. Rujirabanjerd, A. Tzschach, A. Nümann, A. R. Janecke, R. Spörle, S. Stricker, M. Raynaud, J. Nelson, A. Hackett, J.-P. Fryns, J. Chelly, A. P. M. de Brouwer, B. Hamel, J. Gecz, H.-H. Ropers and A. W. Kuss: A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C. In: Pathogenetics 3, 2-2 (2010).
doi: 10.1186/1755-8417-3-2
url: http://www.pathogeneticsjournal.com/content/pdf/1755-8417-3-2.pdf
Jensen, L. R., H. Bartenschlager, S. Rujirabanjerd, A. Tzschach, A. Nümann, A. R. Janecke, R. Spörle, S. Stricker, M. Raynaud, J. Nelson, A. Hackett, J.-P. Fryns, J. Chelly, A. P. M. de Brouwer, B. Hamel, J. Gecz, H.-H. Ropers and A. W. Kuss: A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylose KDM5C.. In: Pathogenetics 2, 3, 2-2 (2010).
url: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2830949/pdf/1755-8417-3-2.pdf
doi: 10.1186/1755-8417-3-2.
Bashiardes, S., L. Kousoulidou, H. van Bokhoven, H.-H. Ropers, J. Chelly, C. Moraine, A. P. M. de Brouwer, H. van Esch, G. Froyen and P. C. Patsalis: A new chromosome X Exon-specific microarray platform for screening of patients with X-linked disorders. In: Journal of Molecular Diagnostics 11, 6, 562-568 (2009).
doi: 10.2353/jmoldx.2009.090086
url: http://jmd.amjpathol.org/cgi/reprint/11/6/562
Tarpey, P. S., R. Smith, E. Pleasance, A. Whibley, S. Edkins, C. Hardy, S. O'Meara, C. Latimer, E. Dicks, A. Menzies, P. Stephens, M. Blow, C. Greenman, Y. Xue, C. Tyler-Smith, D. Thompson, K. Gray, J. Andrews, S. Barthorpe, G. Buck, J. Cole, R. Dunmore, D. Jones, M. Maddison, T. Mironenko, R. Turner, K. Turrell, J. Varian, S. West, S. Widaa, P. Wray, J. Teague, A. Butler, A. Jenkinson, M. Jia, D. Richardson, R. Shepherd, R. Wooster, M. Jia, D. Richardson, R. Shepherd, R. Wooster, M. I. Tejada, F. Martinez, G. Carvill, R. Goliath, A. P. M. de Brouwer, H. van Bokhoven, H. Van Esch, J. Chelly, M. Raynaud, H.-H. Ropers, F. E. Abidi, A. K. Srivastava, J. Cox, Y. Luo, U. Mallya, J. Moon, J. Parnau, S. Mohammed, J. L. Tolmie, C. Shoubridge, M. Corbett, A. Gardner, E. Haan, S. Rujirabanjerd, M. Shaw, L. Vandeleur, T. Fullston, D. F. Easton, J. Boyle, M. Partington, A. Hackett, M. Field, C. Skinner, R. E. Stevenson, M. Bobrow, G. Turner, C. E. Schwartz, J. Gecz, F. L. Raymond, P. A. Futreal and M. R. Stratton: A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. In: Narure Genetics 41, 5, 535-543 (2009).
doi: 10.1038/ng.367
url: http://www.nature.com/ng/journal/v41/n5/pdf/ng.367.pdf
Lugtenberg, D., T. Kleefstra, A. R. Oudakker, W. M. Nillesen, H. G. Yntema, A. Tzschach, M. Raynaud, D. Rating, H. Journel, J. Chelly, C. Goizet, D. Lacombe, J.-M. Pedespan, B. Echenne, G. Tariverdian, D. O'Rourke, M. D. King, A. Green, M. van Kogelenberg, H. Van Esch, J. Gecz, B. C. J. Hamel, H. van Bokhoven and A. P. M. de Brouwer: Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy. In: European Journal of Human Genetics 17, 4, 444-453 (2009).
doi: 10.1038/ejhg.2008.208
url: http://www.nature.com/ejhg/journal/v17/n4/pdf/ejhg2008208a.pdf
Lugtenberg, D., H. G. Yntema, M. J. G. Banning, A. R. Oudakker, H. V. Firth, L. Willatt, M. Raynaud, T. Kleefstra, J.-P. Fryns, H.-H. Ropers, J. Chelly, C. Moraine, J. Gécz, J. van Reeuwijk, S. B. Nabuurs, B. B. A. de Vries, B. C. J. Hamel, A. P. M. de Brouwer and H. van Bokhoven: ZNF674: a new KRAB-containing zinc finger gene involved in non-syndromic X-linked mental retardation. In: American Journal of Human Genetics : : AJHG / American Society of Human Genetics 78, 2, 265-278 (2006).
doi: 0002-9297/2006/7802-0009
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