Klopocki, E., S. Lohan, F. Brancati, R. Koll, A. Brehm, P. Seemann, K. Dathe, S. Stricker, J. Hecht, K. Bosse, R. C. Betz, F. G. Garaci, B. Dallapiccola, M. Jain, M. Muenke, V. C. Ng, W. Chan, D. Chan and S. Mundlos: Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis.. In: American Journal of Human Genetics 88, 1, 70-75 (2011).
url: http://www.ncbi.nlm.nih.gov/pubmed/21167467
doi: i:10.1016/j.ajhg.2010.11.006
Brancati, F., P. Fortugno, I. Bottillo, M. Lopez, E. Josselin, O. Boudghene-Stambouli, E. Agolini, L. Bernardini, E. Bellacchio, M. Iannicelli, A. Rossi, A. Dib-Lachachi, L. Stuppia, G. Palka, S. Mundlos, S. Stricker, U. Kornak, G. Zambruno and B. Dallapiccola: Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. In: American Journal of Human Genetics 87, 2, 265-273 (2010).
url: http://www.ncbi.nlm.nih.gov/pubmed/20691405
doi: 10.1016/j.ajhg.2010.07.003.
Kornak, U., F. Brancati, M. Le Merrer, K. Lichtenbelt, W. Höhne, S. Tinschert, F. G. Garaci, B. Dallapiccola and P. Nürnberg: Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss.. In: American Journal of Medical Genetics Part A 152A, 4, 870-874 (2010).
url: http://www.ncbi.nlm.nih.gov/pubmed/20358596
doi: 10.1002/ajmg.a.33301
Hennies, H. C., U. Kornak, H. K. Zhang, J. Egerer, X. Zhang, W. Seifert, J. Kuhnisch, B. Budde, M. Natebus, F. Brancati, W. R. Wilcox, D. Muller, P. B. Kaplan, A. Rajab, G. Zampino, V. Fodale, B. Dallapiccola, W. Newman, K. Metcalfe, J. Clayton-Smith, M. Tassabehji, B. Steinmann, F. A. Barr, P. Nurnberg, P. Wieacker and S. Mundlos: Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. In: Nature Genetics 40, 12, 1410-1412 (2008).
Browning, B. L., V. Annese, M. L. Barclay, S. A. Bingham, S. Brand, C. Buning, M. Castro, S. Cucchiara, B. Dallapiccola, H. Drummond, L. R. Ferguson, A. Ferraris, S. A. Fisher, R. B. Gearry, J. Glas, L. Henckaerts, C. Huebner, D. Knafelz, L. Lakatos, P. L. Lakatos, A. Latiano, X. Liu, C. Mathew, B. Müller-Myhsok, W. G. Newman, E. R. Nimmo, C. L. Noble, O. Palmieri, M. Parkes, I. Petermann, P. Rutgeerts, J. Satsangi, A. N. Shelling, K. A. Siminovitch, H. P. Torok, M. Tremelling, S. Vermeire, M. R. Valvano and H. Witt: Gender-stratified analysis of DLG5 R30Q in 4707 patients with Crohn disease and 4973 controls from 12 Caucasian cohorts. In: Journal of Medical Genetics 45, 1, 36-42 (2008).
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