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url: http://www.ncbi.nlm.nih.gov/pubmed/21167467
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Horn, D., J. Kapeller, N. Rivera-Brugues, U. Moog, B. Lorenz-Depiereux, S. Eck, M. Hempel, J. Wagenstaller, A. Gawthrope, A. P. Monaco, M. Bonin, O. Riess, E. Wohlleber, T. Illig, C. R. Bezzina, A. Franke, S. Spranger, P. Villavicencio-Lorini, W. Seifert, J. Rosenfeld, E. Klopocki, G. A. Rappold and T. M. Strom: Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits. In: Human Mutation 31, 11, E1851-E1860 (2010).
url: http://www.ncbi.nlm.nih.gov/pubmed/20848658
doi: 10.1002/humu.21362
Kantaputra, P. N., E. Klopocki, B. P. Hennig, V. Praphanphoj, C. Le Caignec, B. Isidor, M. L. Kwee, D. J. Shears and S. Mundlos: Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q.. In: European Journal of Human Genetics 18, 12, 1310-1314 (2010).
url: http://www.ncbi.nlm.nih.gov/pubmed/20648051
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Ott, C. E., G. Leschik, F. Trotier, L. Brueton, H. G. Brunner, W. Brussel, E. Guillen-Navarro, C. Haase, J. Kohlhase, D. Kotzot, A. Lane, M. A. Lee-Kirsch, S. Morlot, M. E. Simon, E. Steichen-Gersdorf, D. H. Tegay, H. Peters, S. Mundlos and E. Klopocki: Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia. In: Human Mutation 31, 8, E1587-93 (2010).
url: http://www.ncbi.nlm.nih.gov/pubmed/20648631
doi: 10.1002/humu.21298
Kramer, M., O. Backhaus, P. Rosenstiel, D. Horn, E. Klopocki, G. Birkenmeier, S. Schreiber, M. Platzer, J. Hampe and K. Huse: Analysis of relative gene dosage and expression differences of the paralogs RABL2A and RABL2B by Pyrosequencing.. In: Gene 455, 1-2, 1-7 (2010).
url: http://www.ncbi.nlm.nih.gov/pubmed/20138207
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Klopocki, E., B. P. Hennig, K. Dathe, R. Koll, T. de Ravel, E. Baten, E. Blom, Y. Gillerot, J. F. Weigel, G. Krüger, O. Hiort, P. Seemann and S. Mundlos: Deletion and point mutations of PTHLH cause brachydactyly type E.. In: The American Journal of Human Genetics 86, 3, 434-439 (2010).
url: http://www.ncbi.nlm.nih.gov/pubmed/20170896
doi: 10.1016/j.ajhg.2010.01.023
Klopocki, E., C.-E. Ott, N. Benatar, R. Ullmann, S. Mundlos and K. Lehmann: A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome. In: Journal of Medical Gentics 45, 6, 370-375 (2008).
url: http://jmg.bmj.com/cgi/reprint/45/6/370
doi: 10.1136/jmg.2007.055699
Müller, D., E. Klopocki, L. E. Neumann, S. Mundlos, M. Taupitz, I. Schulze, H.-H. Ropers, U. Querfeld and R. Ullmann: A complex phenotype with cystic renal disease. In: Kidney International : Official Journal of the International Society of Nephrology 70, 9, 1656-1660 (2006).
doi: 10.1038/sj.ki.5001746
Müller, D., E. Klopocki, L. E. Neumann, S. Mundlos, M. Taupitz, I. Schulze, H.-H. Ropers, U. Querfeld and R. Ullmann: A complex phenotype with cystic renal disease. In: Kidney International : Official Journal of the International Society of Nephrology 70, 9, 1656-1660 (2006).
doi: 10.1038/sj.ki.5001746
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