Hilhorst-Hofstee, Y., Z. Tümer, P. Born, J. Knijnenburg, K. Hansson, V. Yatawara, J. Steensberg, R. Ullmann, G. Arkesteijn, N. Tommerup and L. A. Larsen: Molecular characterization of two patients with de novo interstitial deletions in 4q22-q24. In: American Journal of Medical Genetics Part A 149, 8, 1830-1833 (2009).
doi: 10.1002/ajmg.a.32977
url: http://www3.interscience.wiley.com/cgi-bin/fulltext/122514813/PDFSTART
Zhang, L., Z. Tümer, K. Møllgård, G. Barbi, E. Rossier, E. Bendsen, R. S. Møller, R. Ullmann, J. He, N. Papadopoulos, N. Tommerup and L. A. Larsen: Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development. In: European Journal of Human Genetics 17, 8, 1010-1018 (2009).
doi: 10.1038/ejhg.2008.269
url: http://www.nature.com/ejhg/journal/v17/n8/pdf/ejhg2008269a.pdf
Mller, R. S., S. Kübart, M. Hoeltzenbein, B. Heye, I. Vogel, C. P. Hansen, C. Menzel, R. Ullmann, N. Tommerup, H.-H. Ropers, Z. Tümer and V. M. Kalscheuer: Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. In: The American Journal of Human Genetics 82, 5, 1165-1170 (2008).
url: http://www.sciencedirect.com/science?_ob=MImg&_imagekey=B8JDD-4S80HFD-1-1&_cdi=43612&_user=28761&_coverDate=05%2F09%2F2008&_sk=%23TOC%2343612%232008%23999179994%23688977%23FLA%23display%23Volume_82,_Issue_5,_Pages_1023-1226_(9_May_2008)%23tagged%23Volume%23first%3D82%23Issue%23first%3D5%23date%23(9_May_2008)%23&view=c&_gw=y&wchp=dGLzVlz-zSkzV&md5=cfab3bfe2471375312205cfe31a17d99&ie=/sdarticle.pdf
doi: 10.1016/j.ajhg.2008.03.001
Møller, R. S., L. M. Schneider, C. P. Hansen, M. Bugge, R. Ullmann, N. Tommerup and Z. Tümer: Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A. In: Epilepsia 49, 6, 1091-1094 (2008).
url: http://www3.interscience.wiley.com/cgi-bin/fulltext/120084196/PDFSTART
doi: 10.1111/j.1528-1167.2008.01550.x
Gilling, M., M. B. Lauritsen, M. Møller, K. F. Henriksen, A. Vicente, G. Oliveira, C. Cintin, H. Eiberg, P. S. Andersen, O. Mors, T. Rosenberg, K. Brøndum-Nielsen, R. M. J. Cotterill, C. Lundsteen, H.-H. Ropers, R. Ullmann, I. Bache, Z. Tümer and N. Tommerup: A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.. In: European Journal of Human Genetics 16, 3, 312-319 (2008).
url: translocation, deletion, autism, myopia, array CGH, chromosome 18
doi: 10.1038/sj.ejhg.5201985
Jakobsen, L. P., R. Ullmann, S. B. Christensen, K. E. Jensen, K. Mølsted, K. F. Henriksen, C. Hansen, M. A. Knudsen, L. A. Larsen, N. Tommerup and Z. Tümer: Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2. In: Druckausga 44, 6, 381-386 (2007).
doi: 10.1136/jmg.2006.046177
url: http://jmg.bmj.com/cgi/reprint/44/6/381?maxtoshow=&HITS=10&hits=10&RESULTFORMAT=&andorexactfulltext=and&searchid=1&FIRSTINDEX=0&sortspec=relevance&volume=44&firstpage=381&resourcetype=HWCIT
Belloso, J. M., I. Bache, M. Guitart, M. R. Caballin, C. Halgren, M. Kirchhoff, H.-H. Ropers, N. Tommerup and Z. Tümer: Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome. In: European Journal og Human Genetics : EJHG ; the Official Journal of the European Society of Human Genetics 15, 6, 711-713 (2007).
doi: :10.1038/sj.ejhg.5201824
Gilling, M., J. S. Dullinger, S. Gesk, S. Metzke-Heidemann, R. Siebert, T. Meyer, K. Brondum-Nielsen, N. Tommerup, H.-H. Ropers, Z. Tümer, V. M. Kalscheuer and N. S. Thomas: Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among Northern Europeans. In: American Journal of Human Genetics : AJHG / American Society of Human Genetics 78, 5, 878-883 (2006).
doi: 0002-9297/2006/7805-0014
Bækvad-Hansen, M., Z. Tümer, A. Delicado, F. Erdogan, N. Tommerup and L. A. Larsen: Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease. In: American Journal of Medical Genetics Part A 140, 5, 427-33 (2006).
doi: 10.1002/ajmg.a.31087
Bache, I., E. Van Assche, S. Cingoz, M. Bugge, Z. Tümer, M. Hjorth, C. Lundsteen, J. Lespinasse, K. Winther, A. Niebuhr, V. Kalscheuer, I. Liebaers, M. Bonduelle, H. Tournaye, C. Ayuso, G. Barbi, E. Blennow, G. Bourrouillou, K. Brondum-Nielsen, G. Bruun-Petersen, M.-F. Croquette, S. Dahoun, B. Dallapiccola, V. Davison, B. Delobel, H.-C. Duba, L. Duprez, M. Ferguson-Smith, D. R. FitzPatrick, E. Grace, I. Hansmann, M. Hultén, P. K. A. Jensen, P. Jonveaux, U. Kristoffersson, I. Lopez-Pajares, J. McGowan-Jordan, J. Murken, M. Orera, T. Parkin, E. Passarge, C. Ramos, K. Rasmussen, W. Schempp, R. Schubert, E. Schwinger, F. Shabtai, K. Smith, R. Stallings, M. Stefanova, L. Tranebjerg, C. Turleau, C. B. van der Hagen, M. Vekemans, N. K. Vokac, K. Wagner, J. Wahlstroem, L. Zelante and N. Tommerup: An excess of chromosome 1 breakpoints in male infertility. In: European Journal of Human Genetics 12, 12, 993-1000 (2004).
doi: 10.1038/sj.ejhg.5201263
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