Detail Information
Publications
Educational paper : CiliopathiesCarsten Bergmann
Center for Human Genetics Bioscientia, Konrad Adenauer Str 17, 55218, Ingelheim, Germany
Eur J Pediatr 171:1285-300. 2012..This is undoubtedly a result of the dynamic development in the field of human genetics and deserves increased attention in genetic counselling and the management of affected families...
It's not all in the cilium, but on the road to it: genetic interaction network in polycystic kidney and liver diseases and how trafficking and quality control matterCarsten Bergmann
Bioscientia, Center for Human Genetics, Ingelheim, Germany
J Hepatol 56:1201-3. 2012....
Mutations in multiple PKD genes may explain early and severe polycystic kidney diseaseCarsten Bergmann
Center for Human Genetics, Bioscientia, Konrad Adenauer Str 17, 55218 Ingelheim, Germany
J Am Soc Nephrol 22:2047-56. 2011..Our findings are consistent with a common pathogenesis and dosage theory for PKD and may propose a general concept for the modification of disease expression in other so-called monogenic disorders...
