Senderek, J., M. Krieger, C. Stendel, C. Bergmann, M. Moser, N. Breitbach-Faller, S. Rudnik-Schoneborn, A. Blaschek, N. I. Wolf, I. Harting, K. North, J. Smith, F. Muntoni, M. Brockington, S. Quijano-Roy, F. Renault, R. Herrmann, L. M. Hendershot, J. M. Schroder, H. Lochmuller, H. Topaloglu, T. Voit, J. Weis, F. Ebinger and K. Zerres: Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy. In: Nature Genetics 37, 12, 1312-1314 (2005).
Moser, M., S. Matthiesen, J. Kirfel, H. Schorle, C. Bergmann, J. Senderek, S. Rudnik-Schoneborn, K. Zerres and R. Buettner: A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD). In: Hepatology 41, 5, 1113-1121 (2005).
Zerres, K., J. Senderek, S. Rudnik-Schoneborn, T. Eggermann, J. Kunze, T. Mononen, H. Kaariainen, J. Kirfel, M. Moser, R. Buettner and C. Bergmann: New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene. In: Clinical Genetics 66, 53-57 (2004).
Bergmann, C., J. Senderek, B. Sedlacek, I. Pegiazoglou, P. Puglia, T. Eggermann, S. Rudnik-Schoneborn, L. Furu, L. F. Onuchic, M. De Baca, G. G. Germino, L. Guay-Woodford, S. Somlo, M. Moser, R. Buttner and K. Zerres: Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). In: Journal of the American Society of Nephrology 14, 1, 76-89 (2003).
http://edoc.mpg.de
The Max Planck Society does not take any responsibility for the content of this export.