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
Frints, S. G. M., S. Lenzner, M. Bauters, L. R. Jensen, H. Van Esch, V. des Portes, U. Moog, M. V. E. Macville, K. van Roozendaal, C. T. R. M. Schrander-Stumpel, A. Tzschach, P. Marynen, J.-P. Fryns, B. Hame, H. van Bokhoven, J. Chelly, C. Beldjord, G. Turner, J. Gecz, C. Moraine, M. Raynaud, H. H. Ropers, G. Froyen and A. W. Kuss: MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.. In: European Journal of Human Genetics 16, 9, 1029-1037 (2008).
url: http://www.nature.com/ejhg/journal/v16/n9/abs/ejhg200866a.html
doi: 10.1038/ejhg.2008.66
Froyen, G., M. Corbett, J. Vandewalle, I. Jarvela, O. Lawrence, C. Meldrum, M. Bauters, K. Govaerts, L. Vandeleur, H. Van Esch, J. Chelly, D. Sanlaville, H. van Bokhoven, H.-H. Ropers, F. Laumonnier, E. Ranieri, C. E. Schwartz, F. Abidi, P. S. Tarpey, P. A. Futreal, A. Whibley, F. L. Raymond, M. R. Stratton, J.-P. Fryns, R. Scott, M. Peippo, M. Sipponen, M. Partington, D. Mowat, M. Field, A. Hackett, P. Marynen, G. Turner and J. Gécz: Submicroscopic duplications of th hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. In: The American Journal of Human Genetics, 82, 2, 432-443 (2008).
url: http://www.cell.com/AJHG/abstract/S0002-9297(07)00036-5
doi: 10.1016/j.ajhg.2007.11.002
Kousoulidou, L., S. Parkel, O. Zilina, P. Palta, H. Puusepp, M. Remm, G. Turner, J. Boyle, H. van Bokhoven, A. de Brouwer, H. Van Esch, G. Froyen, H.-H. Ropers, J. Chelly, C. Moraine, J. Gecz, A. Kurg and P. C. Patsalis: Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH. In: European Journal of Medical Genetics 50, 6, 399-410 (2007).
url: http://www.sciencedirect.com/science?_ob=ArticleURL&_udi=B7RKV-4PSK94T-1&_user=28761&_rdoc=1&_fmt=&_orig=search&_sort=d&view=c&_acct=C000002718&_version=1&_urlVersion=0&_userid=28761&md5=7c4cb2e161b78e60a8e945fe0a89d250
doi: 10.1016/j.ejmg.2007.09.001
Ullmann, R., G. Turner, M. Kirchhoff, W. Chen, B. Tonge, C. Rosenberg, M. Field, A. M. Vianna-Morgante, L. Christie, A. C. Krepischi-Santos, L. Banna, A. V. Brereton, A. Hill, A.-M. Bisgaard, I. Müller, C. Hultschig, F. Erdogan, G. Wieczorek and H.-H. Ropers: Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. In: Human Mutation : Variation, Databases, and Disease 28, 7, 674-682 (2007).
doi: 10.1002/humu.20546
url: http://www3.interscience.wiley.com/cgi-bin/fulltext/114250463/PDFSTART
Ullmann, R., G. Turner, M. Kirchhoff, W. Chen, B. Tonge, C. Rosenberg, M. Field, A. M. Vianna-Morgante, L. Christie, A. C. Krepischi-Santos, L. Banna, A. V. Brereton, A. Hill, A.-M. Bisgaard, I. Müller, C. Hultschig, F. Erdogan, G. Wieczorek and H.-H. Ropers: Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. In: Human Mutation : Variation, Databases, and Disease 28, 7 (2007).
doi: 10.1002/humu.20546
url: http://www3.interscience.wiley.com/cgi-bin/fulltext/114250463/PDFSTART
de Brouwer, A. P., H. G. Yntema, T. Kleefstra, D. Lugtenberg, A. R. Oudakker, B. B. A. de Vries, H. van Bokhoven, H. van Esch, S. G. M. Frints, G. Froyen, J.-P. Fryns, M. Raynaud, M.-P. Moizard, N. Ronce, A. Bensalem, C. Moraine, K. Poirier, L. Castelnau, Y. Saillour, T. Bienvenu, C. Beldjord, V. des Portes, J. Chelly, G. Turner, T. Fullston, J. Gecz, A. W. Kuss, A. Tzschach, L. R. Jensen, S. Lenzner, V. M. Kalscheuer, H.-H. Ropers and B. C. Hamel: Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. In: Human Mutation 28, 2, 207-208 (2007).
doi: 10.1002/humu.9482
Jensen, L. R., S. Lenzner, B. Mose, K. Freude, A. Tzschach, W. Chen, J.-P. Fryns, J. Chelly, G. Turner, C. Moraine, B. Hamel, H.-H. Ropers and A. w. Kuss: X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11. In: European Journal of Human Genetics : EJHG ; the Official Journal of the European Society of Human Genetics 15, 1, 68-75 (2007).
doi: 10.1038/sj.ejhg.5201714
url: http://www.nature.com/ejhg/journal/v15/n1/pdf/5201714a.pdf
Jensen, L. R., S. Lenzner, B. Mose, K. Freude, A. Tzschach, W. Chen, J.-P. Fryns, J. Chelly, G. Turner, C. Moraine, B. Hamel, H.-H. Ropers and A. w. Kuss: X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11. In: European Journal of Human Genetics : EJHG ; the Official Journal of the European Society of Human Genetics 15, 1, 68-75 (2007).
doi: 10.1038/sj.ejhg.5201714
url: http://www.nature.com/ejhg/journal/v15/n1/pdf/5201714a.pdf
Tzschach, A., S. Lenzner, B. Moser, R. Reinhardt, J. Chelly, J.-P. Fryns, T. Kleefstra, M. Raynaud, G. Turner, H.-H. Ropers, A. Kuss and L. R. Jensen: Novel JARID1C/SMCX mutations in patients with X-linked mental retardation. In: Human Mutation 27, 4, 389-389 (2006).
doi: 10.1002/humu.9420
http://edoc.mpg.de
The Max Planck Society does not take any responsibility for the content of this export.