Funktion des Gens der autosomal-rezessiven polyzystischen Nierenerkrankung (ARPKD) in der Organogenese

Search results

• 2005

  A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD)

  Moser, M., Matthiesen, S., Kirfel, J., Schorle, H., Bergmann, G., Senderek, J., Rudnik-Schöneborn, S., Zerres, K. & Buettner, R., 01.05.2005, In: Hepatology. 41, 5, p. 1113-1121 9 p.

  Research output: Journal Articles › Journal articles › Research › peer-review

  • Polycystic Kidney Disease 100%
  • Autosomal Recessive Inheritance 100%
  • Mouse Model 100%
  • Fibrosis 50%
  • Bile Duct 50%

  80   Link opens in a new tab Citations (Scopus)

• 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., Abel, E., Ala-Mello, S., Ausserer, B. & Bald, M. & 48 others, Beetz, R., Besbas, N., Brandis, M., Coulthard, M., Dippel, J., Garcia, C. D., Fischbach, M., Foged, N., Frishberg, Y., Gellermann, J., Gordjani, N., Häffner, K., Hennekam, R. C., Hoppe, B., Hoyer, P., John, U., Kääriäinen, H., Kemper, M. J., Koivisto, P., Krüger, G., Kuwertz-Bröcking, E., Lambert, D., Lennert, T., Li Volti, S., Mache, C., Matthijs, G., Mehls, O., Meiner, V., Misselwitz, J., Mononen, T., Müller-Wiefel, D. E., Mustonen, A., Özen, S., Oliveira, J. P., Pirson, Y., Querfeld, U., Rascher, W., Rudin, C., Santos, H. G., Schröder, M., Seyberth, H. W., Shalev, S., Shohat, M., Strehlau, J., Vierimaa, O., Völpel, S., Wilson, M. & Zimmerhackl, B., 01.01.2005, In: Kidney International. 67, 3, p. 829-848 20 p.

  Research output: Journal Articles › Journal articles › Research › peer-review

  • Polycystic Kidney Disease 100%
  • Autosomal Recessive Inheritance 100%
  • Missense Mutation 75%
  • Survival Rate 50%
  • Fibrocystin 50%

  292   Link opens in a new tab Citations (Scopus)

• 2004

  New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene

  Zerres, K., Senderek, J., Rudnik-Schöneborn, S., Eggermann, T., Kunze, J., Mononen, T., Kääriäinen, H., Kirfel, J., Moser, M., Buettner, R. & Bergmann, C., 01.07.2004, In: Clinical Genetics. 66, 1, p. 53-57 5 p.

  Research output: Journal Articles › Journal articles › Research › peer-review

  • Prenatal Diagnosis 100%
  • Polycystic Kidney Disease 100%
  • Autosomal Recessive Inheritance 100%
  • Linkage Analysis 33%
  • Diagnostic Error 16%

  46   Link opens in a new tab Citations (Scopus)

• 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., 14.05.2004, In: Human Mutation. 23, 5, p. 487-495 9 p.

  Research output: Journal Articles › Journal articles › Research › peer-review

  • Autosomal Recessive Inheritance 100%
  • Linkage Analysis 14%
  • Missense Mutation 14%
  • Amino Acid 14%
  • Denaturing High Performance Liquid Chromatography 14%

  72   Link opens in a new tab Citations (Scopus)