Martin Zenker
Institute of Human Genetics
University Hospital Erlangen
University of Erlangen-Nuremberg
Schwabachanlage 10
Germany
Name/email consistency: high
- Genetics of nephrotic syndrome: new insights into molecules acting at the glomerular filtration barrier. Zenker, M., Machuca, E., Antignac, C. J. Mol. Med. (2009)
- Mild variable Noonan syndrome in a family with a novel PTPN11 mutation. Zenker, M., Voss, E., Reis, A. Eur. J. Med. Genet (2007)
- Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia. Zenker, M., Nährlich, L., Sticht, H., Reis, A., Horn, D. Am. J. Med. Genet. A (2006)
- Severe, neonatal-onset OTC deficiency in twin sisters with a de novo balanced reciprocal translocation t(X;5)(p21.1;q11). Zenker, M., Wermuth, B., Trautmann, U., Knerr, I., Kraus, C., Rauch, A., Reis, A. Am. J. Med. Genet. A (2005)
- Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). Zenker, M., Mayerle, J., Lerch, M.M., Tagariello, A., Zerres, K., Durie, P.R., Beier, M., Hülskamp, G., Guzman, C., Rehder, H., Beemer, F.A., Hamel, B., Vanlieferinghen, P., Gershoni-Baruch, R., Vieira, M.W., Dumic, M., Auslender, R., Gil-da-Silva-Lopes, V.L., Steinlicht, S., Rauh, M., Shalev, S.A., Thiel, C., Ekici, A.B., Winterpacht, A., Kwon, Y.T., Varshavsky, A., Reis, A. Nat. Genet. (2005)
- A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts. Zenker, M., Rauch, A., Winterpacht, A., Tagariello, A., Kraus, C., Rupprecht, T., Sticht, H., Reis, A. Am. J. Hum. Genet. (2004)
- Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. Zenker, M., Aigner, T., Wendler, O., Tralau, T., Müntefering, H., Fenski, R., Pitz, S., Schumacher, V., Royer-Pokora, B., Wühl, E., Cochat, P., Bouvier, R., Kraus, C., Mark, K., Madlon, H., Dötsch, J., Rascher, W., Maruniak-Chudek, I., Lennert, T., Neumann, L.M., Reis, A. Hum. Mol. Genet. (2004)
- Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome. Zenker, M., Tralau, T., Lennert, T., Pitz, S., Mark, K., Madlon, H., Dötsch, J., Reis, A., Müntefering, H., Neumann, L.M. Am. J. Med. Genet. A (2004)
