KAPITEL 12 – Hereditäre Nephropathien

M Broyer, M C Gubler, R Habib, P Niaudet, M Levy, A Bensman, C Loirat, The nephropathy associated with male pseudohermaphroditism and Wilms' tumor (Drash syndrome): a distinctive glomerular lesion--report of 10 cases. Clinical Nephrology. ,vol. 24, pp. 269- 278 ,(1985)

N P Huttunen, J Rapola, N Hallman, J Vilska, Renal pathology in congenital nephrotic syndrome of Finnish type: a quantitative light microscopic study on 50 patients. The International journal of pediatric nephrology. ,vol. 1, pp. 10- 16 ,(1980)

Ali K. Topaloglu, Grace A. Ashley, Bingzheng Tong, Junaid Shabbeer, Kenneth H. Astrin, Christine M. Eng, Robert J. Desnick, Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease. Molecular Medicine. ,vol. 5, pp. 806- 811 ,(1999) , 10.1007/BF03401993

Nicholas Katsanis, Philip L. Beales, Michael O. Woods, Richard A. Lewis, Jane S. Green, Patrick S. Parfrey, Stephen J. Ansley, William S. Davidson, James R. Lupski, Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome Nature Genetics. ,vol. 26, pp. 67- 70 ,(2000) , 10.1038/79201

C. Holmberg, J. Weissenbach, G. Gyapay, M. Männikkö, K. Tryggvason, E. R. Savolainen, M. Kestilä, L. Peltonen, Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19. American Journal of Human Genetics. ,vol. 54, pp. 757- 764 ,(1994)

Toshio Mochizuki, Henny H. Lemmink, Mariko Mariyama, Corinne Antignac, Marie-Claire Gubler, Yves Pirson, Christine Verellen-Dumoulin, Belinda Chan, Cornelis H. Schröder, Hubert J. Smeets, Stephen T. Reeders, Identification of Mutations in the Alpha-3(iv) and Alpha-4(iv) Collagen Genes in Autosomal Recessive Alport Syndrome Nature Genetics. ,vol. 8, pp. 77- 81 ,(1994) , 10.1038/NG0994-77

Christopher J Ward, B Peral, J Hughes, S Thomas, V Gamble, AB MacCarthy, J Sloanestanley, VJ Buckle, L Kearney, DR Higgs, PJ Ratcliffe, PC Harris, JH Roelfsema, L Spruit, JJ Saris, HG Dauwerse, DJM Peters, MH Breuning, M Nellist, PT BROOKCARTER, MM Maheshwar, I Cordeiro, H Santos, P Cabral, JR Sampson, B Janssen, ALW HESSELINGJANSSEN, AMW VANDENOUWELAND, B Eussen, S Verhoef, D Lindhout, DJJ Halley, None, The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16 Cell. ,vol. 77, pp. 881- 894 ,(1994) , 10.1016/0092-8674(94)90137-6

Jared J. Grantham, Lillian Jean Kaplan International Prize for Advancement in the Understanding of Polycystic Kidney Disease Kidney International. ,vol. 64, pp. 1157- 1162 ,(2003) , 10.1046/J.1523-1755.2003.00242.X

Guanqing Wu, Glen S. Markowitz, Li Li, Vivette D. D'Agati, Stephen M. Factor, Lin Geng, Sonia Tibara, Jay Tuchman, Yiqiang Cai, Jong Hoon Park, Janet van Adelsberg, Harry Hou, Raju Kucherlapati, Winfried Edelmann, Stefan Somlo, Cardiac defects and renal failure in mice with targeted mutations in Pkd2. Nature Genetics. ,vol. 24, pp. 75- 78 ,(2000) , 10.1038/71724

Karl Tryggvason, Unraveling the mechanisms of glomerular ultrafiltration: nephrin, a key component of the slit diaphragm. Journal of The American Society of Nephrology. ,vol. 10, pp. 2440- 2445 ,(1999) , 10.1681/ASN.V10112440