Inga Ebermann

Summary

Affiliation: University of Cologne
Country: Germany

Publications

  1. pmc Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population
    Inga Ebermann
    Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany
    Genome Biol 8:R47. 2007
  2. pmc An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians
    Inga Ebermann
    Institute of Human Genetics, University of Cologne, Cologne, Germany
    Eur J Hum Genet 17:80-4. 2009
  3. ncbi request reprint Protocadherin-21 (PCDH21), a candidate gene for human retinal dystrophies
    Hanno Bolz
    Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany
    Mol Vis 11:929-33. 2005
  4. ncbi request reprint Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction
    Inga Ebermann
    Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany
    Hum Mutat 28:571-7. 2007
  5. pmc PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome
    Inga Ebermann
    Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany
    J Clin Invest 120:1812-23. 2010
  6. pmc Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics
    Claudia Dafinger
    Institute of Human Genetics, Department of Medicine and Centre for Molecular Medicine, University of Cologne, Cologne, Germany
    J Clin Invest 121:2662-7. 2011
  7. ncbi request reprint A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss
    Inga Ebermann
    Institute of Human Genetics, University Hospital of Cologne, Kerpener Str 34, 50931 Cologne, Germany
    Hum Genet 121:203-11. 2007
  8. ncbi request reprint Two truncating USH3A mutations, including one novel, in a German family with Usher syndrome
    Inga Ebermann
    Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany
    Mol Vis 13:1539-47. 2007
  9. doi request reprint Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing
    Elvir Becirovic
    Institute of Human Genetics, University of Cologne, Cologne, Germany
    Hum Mutat 29:452. 2008

Collaborators

Detail Information

Publications9

  1. pmc Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population
    Inga Ebermann
    Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany
    Genome Biol 8:R47. 2007
    ..We hypothesized that founder mutations in USH1 genes exist in this population...
  2. pmc An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians
    Inga Ebermann
    Institute of Human Genetics, University of Cologne, Cologne, Germany
    Eur J Hum Genet 17:80-4. 2009
    ....
  3. ncbi request reprint Protocadherin-21 (PCDH21), a candidate gene for human retinal dystrophies
    Hanno Bolz
    Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany
    Mol Vis 11:929-33. 2005
    ..Therefore we searched for a human retinal phenotype associated with mutations in the orthologous human gene, PCDH21...
  4. ncbi request reprint Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction
    Inga Ebermann
    Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany
    Hum Mutat 28:571-7. 2007
    ..Moreover, all patients in our family with homozygosity for the DFNB59 mutation display central vestibular dysfunction...
  5. pmc PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome
    Inga Ebermann
    Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany
    J Clin Invest 120:1812-23. 2010
    ..Our data challenge the view of Usher syndrome as a traditional Mendelian disorder and support the reclassification of Usher syndrome as an oligogenic disease...
  6. pmc Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics
    Claudia Dafinger
    Institute of Human Genetics, Department of Medicine and Centre for Molecular Medicine, University of Cologne, Cologne, Germany
    J Clin Invest 121:2662-7. 2011
    ..Thus, we suggest that modified microtubule stability and growth direction caused by loss of KIF7 function may be an underlying disease mechanism contributing to JBTS...
  7. ncbi request reprint A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss
    Inga Ebermann
    Institute of Human Genetics, University Hospital of Cologne, Kerpener Str 34, 50931 Cologne, Germany
    Hum Genet 121:203-11. 2007
    ..We describe a novel genetic subtype for Usher syndrome, which we named USH2D and which is caused by mutations in whirlin. Moreover, this is the first case of USH2 that is allelic to non-syndromic deafness...
  8. ncbi request reprint Two truncating USH3A mutations, including one novel, in a German family with Usher syndrome
    Inga Ebermann
    Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany
    Mol Vis 13:1539-47. 2007
    ..To identify the genetic defect in a German family with Usher syndrome (USH) and linkage to the USH3A locus...
  9. doi request reprint Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing
    Elvir Becirovic
    Institute of Human Genetics, University of Cologne, Cologne, Germany
    Hum Mutat 29:452. 2008
    ..A484P, p.T1209A and p.R1507Q. These three latter CDH23 missense mutations could interfere with functions of both, the auditory and the visual system. Alternatively, they could represent rare non-pathogenic polymorphisms...