Carsten Bergmann
Department of Human Genetics
RWTH Aachen University
52074 Aachen
Germany
Name/email consistency: high
- Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Bergmann, C., Fliegauf, M., Brüchle, N.O., Frank, V., Olbrich, H., Kirschner, J., Schermer, B., Schmedding, I., Kispert, A., Kränzlin, B., Nürnberg, G., Becker, C., Grimm, T., Girschick, G., Lynch, S.A., Kelehan, P., Senderek, J., Neuhaus, T.J., Stallmach, T., Zentgraf, H., Nürnberg, P., Gretz, N., Lo, C., Lienkamp, S., Schäfer, T., Walz, G., Benzing, T., Zerres, K., Omran, H. Am. J. Hum. Genet. (2008)
- Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease. Bergmann, C., Frank, V., Küpper, F., Schmidt, C., Senderek, J., Zerres, K. J. Hum. Genet. (2006)
- Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia. Bergmann, C., Senderek, J., Anhuf, D., Thiel, C.T., Ekici, A.B., Poblete-Gutierrez, P., van Steensel, M., Seelow, D., Nürnberg, G., Schild, H.H., Nürnberg, P., Reis, A., Frank, J., Zerres, K. Am. J. Hum. Genet. (2006)
- Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). Bergmann, C., Senderek, J., Windelen, E., Küpper, F., Middeldorf, I., Schneider, F., Dornia, C., Rudnik-Schöneborn, S., Konrad, M., Schmitt, C.P., Seeman, T., Neuhaus, T.J., Vester, U., Kirfel, J., Büttner, R., Zerres, K. Kidney Int. (2005)
- Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD). Bergmann, C., Küpper, F., Dornia, C., Schneider, F., Senderek, J., Zerres, K. Hum. Mutat. (2005)
- Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD). Bergmann, C., Küpper, F., Schmitt, C.P., Vester, U., Neuhaus, T.J., Senderek, J., Zerres, K. J. Med. Genet. (2005)
- PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD). Bergmann, C., Senderek, J., Küpper, F., Schneider, F., Dornia, C., Windelen, E., Eggermann, T., Rudnik-Schöneborn, S., Kirfel, J., Furu, L., Onuchic, L.F., Rossetti, S., Harris, P.C., Somlo, S., Guay-Woodford, L., Germino, G.G., Moser, M., Büttner, R., Zerres, K. Hum. Mutat. (2004)
- PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD). Bergmann, C., Senderek, J., Schneider, F., Dornia, C., Küpper, F., Eggermann, T., Rudnik-Schöneborn, S., Kirfel, J., Moser, M., Büttner, R., Zerres, K. Hum. Mutat. (2004)
- Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). Bergmann, C., Senderek, J., Sedlacek, B., Pegiazoglou, I., Puglia, P., Eggermann, T., Rudnik-Schöneborn, S., Furu, L., Onuchic, L.F., De Baca, M., Germino, G.G., Guay-Woodford, L., Somlo, S., Moser, M., Büttner, R., Zerres, K. J. Am. Soc. Nephrol. (2003)
- Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia. Bergmann, C., Zerres, K., Senderek, J., Rudnik-Schoneborn, S., Eggermann, T., Häusler, M., Mull, M., Ramaekers, V.T. Brain (2003)
- Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC). Bergmann, C., Zerres, K., Peschgens, T., Senderek, J., Hörnchen, H., Rudnik-Schöneborn, S. Am. J. Med. Genet. A (2003)
- Allelic variants in the 5' non-coding region of the connexin32 gene: possible pitfalls in the diagnosis of X linked Charcot-Marie-Tooth neuropathy (CMTX). Bergmann, C., Zerres, K., Rudnik-Schöneborn, S., Eggermann, T., Schröder, J.M., Senderek, J. J. Med. Genet. (2002)
