Carsten Bergmann

Summary

Affiliation: Bioscientia GmbH
Country: Germany

Publications

  1. pmc Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3
    Tobias Eisenberger
    Bioscientia Center for Human Genetics, Konrad Adenauer Str, 17, Ingelheim 55218, Germany
    Orphanet J Rare Dis 7:59. 2012
  2. pmc Educational paper: ciliopathies
    Carsten Bergmann
    Center for Human Genetics Bioscientia, Konrad Adenauer Str 17, 55218 Ingelheim, Germany
    Eur J Pediatr 171:1285-300. 2012
  3. ncbi request reprint 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 matter
    Carsten Bergmann
    Bioscientia, Center for Human Genetics, Ingelheim, Germany
    J Hepatol 56:1201-3. 2012
  4. pmc Mutations in multiple PKD genes may explain early and severe polycystic kidney disease
    Carsten Bergmann
    Center for Human Genetics, Bioscientia, Konrad Adenauer Str 17, 55218 Ingelheim, Germany
    J Am Soc Nephrol 22:2047-56. 2011

Collaborators

  • Julia Hoefele
  • Tobias Eisenberger
  • Rima Slim
  • Hanno Jörn Bolz
  • Christian Decker
  • Inga Ebermann
  • Gudrun Nurnberg
  • Peter Nurnberg
  • Ahmad Mansour
  • Claudia Dafinger
  • Markus Nauck

Detail Information

Publications4

  1. pmc Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3
    Tobias Eisenberger
    Bioscientia Center for Human Genetics, Konrad Adenauer Str, 17, Ingelheim 55218, Germany
    Orphanet J Rare Dis 7:59. 2012
    ..Our study was aimed at the identification of the causative mutation in this USH3-like family...
  2. pmc Educational paper: ciliopathies
    Carsten 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...
  3. ncbi request reprint 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 matter
    Carsten Bergmann
    Bioscientia, Center for Human Genetics, Ingelheim, Germany
    J Hepatol 56:1201-3. 2012
    ....
  4. pmc Mutations in multiple PKD genes may explain early and severe polycystic kidney disease
    Carsten 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...