Ralf Birkenhäger

Summary

Affiliation: University Hospital
Country: Germany

Publications

  1. doi request reprint Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene
    Ralf Birkenhäger
    Department of Oto Rhino Laryngology, Head and Neck Surgery, University Medical Center Freiburg, Freiburg, Germany
    Am J Med Genet A 152:1798-802. 2010
  2. doi request reprint A novel dominant and a de novo mutation in the GJB2 gene (connexin-26) cause keratitis-ichthyosis-deafness syndrome: implication for cochlear implantation
    Susan Arndt
    Department of Otorhinolaryngology, Head and Neck Surgery University Medical Center Freiburg, Freiburg, Germany
    Otol Neurotol 31:210-5. 2010
  3. doi request reprint Necrotizing meningoencephalitis mimicking cerebellopontine angle tumor as late complication following cochlear implantation
    Susan Arndt
    Department of Oto Rhino Laryngology, Head and Neck Surgery, University Medical Center Freiburg, Germany
    Cochlear Implants Int 13:60-4. 2012
  4. doi request reprint Novel mutation in the homeobox domain of transcription factor POU3F4 associated with profound sensorineural hearing loss
    Christian Schild
    Department of Oto Rhino Laryngology, Head and Neck Surgery, University Medical Center Freiburg, Freiburg, Germany
    Otol Neurotol 32:690-4. 2011
  5. pmc LOH-profiling by SNP-mapping in a case of multifocal head and neck cancer
    Jens Pfeiffer
    Jens Pfeiffer, Wolfgang Maier, Gerd J Ridder, Karim Zaoui, Ralf Birkenhäger, Department of Otorhinolaryngology, Head and Neck Surgery, University of Freiburg, 79106 Freiburg, Germany
    World J Clin Oncol 3:24-8. 2012
  6. doi request reprint Spectrum of hearing disorders and their management in children with CHARGE syndrome
    Susan Arndt
    Department of Oto Rhino Laryngology, Head and Neck Surgery, University Medical Center Freiburg, Freiburg, Germany
    Otol Neurotol 31:67-73. 2010
  7. doi request reprint Head and neck cancer in young adults and nonsmokers: study of cancer susceptibility by genome-wide high-density SNP microarray mapping
    Jens Pfeiffer
    Department of Otorhinolaryngology, Head and Neck Surgery, University Medical Center Freiburg, Germany
    Acta Otolaryngol 131:1091-8. 2011

Collaborators

Detail Information

Publications7

  1. doi request reprint Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene
    Ralf Birkenhäger
    Department of Oto Rhino Laryngology, Head and Neck Surgery, University Medical Center Freiburg, Freiburg, Germany
    Am J Med Genet A 152:1798-802. 2010
    ..Our investigations document additional evidence for the correlation between the cited mutations in the GJB2 gene and a syndromic hearing impairment with palmoplantar keratoderma...
  2. doi request reprint A novel dominant and a de novo mutation in the GJB2 gene (connexin-26) cause keratitis-ichthyosis-deafness syndrome: implication for cochlear implantation
    Susan Arndt
    Department of Otorhinolaryngology, Head and Neck Surgery University Medical Center Freiburg, Freiburg, Germany
    Otol Neurotol 31:210-5. 2010
    ..The aim of this study was to explore the feasibility and procedure of cochlear implantation in patients with KID syndrome and to assess the genetic causes...
  3. doi request reprint Necrotizing meningoencephalitis mimicking cerebellopontine angle tumor as late complication following cochlear implantation
    Susan Arndt
    Department of Oto Rhino Laryngology, Head and Neck Surgery, University Medical Center Freiburg, Germany
    Cochlear Implants Int 13:60-4. 2012
    ..The MRI scans now showed a tumor in the CPA. Following removal of the tumor, histopathological and immunohistochemical examination revealed a necrotizing meningoencephalitis, with the CI electrode as the focus...
  4. doi request reprint Novel mutation in the homeobox domain of transcription factor POU3F4 associated with profound sensorineural hearing loss
    Christian Schild
    Department of Oto Rhino Laryngology, Head and Neck Surgery, University Medical Center Freiburg, Freiburg, Germany
    Otol Neurotol 32:690-4. 2011
    ..In this study, we describe the clinical features and genetic analysis of a male child from a German family with congenital deafness and a novel POU3F4 mutation...
  5. pmc LOH-profiling by SNP-mapping in a case of multifocal head and neck cancer
    Jens Pfeiffer
    Jens Pfeiffer, Wolfgang Maier, Gerd J Ridder, Karim Zaoui, Ralf Birkenhäger, Department of Otorhinolaryngology, Head and Neck Surgery, University of Freiburg, 79106 Freiburg, Germany
    World J Clin Oncol 3:24-8. 2012
    ..To introduce an approach for the detection of putative genetic host factors that predispose patients to develop head and neck squamous cell carcinomas (HNSCC)...
  6. doi request reprint Spectrum of hearing disorders and their management in children with CHARGE syndrome
    Susan Arndt
    Department of Oto Rhino Laryngology, Head and Neck Surgery, University Medical Center Freiburg, Freiburg, Germany
    Otol Neurotol 31:67-73. 2010
    ..The aim of this study is to explore the feasibility and procedure of cochlear implantation in patients with CHARGE syndrome and to assess the outcome...
  7. doi request reprint Head and neck cancer in young adults and nonsmokers: study of cancer susceptibility by genome-wide high-density SNP microarray mapping
    Jens Pfeiffer
    Department of Otorhinolaryngology, Head and Neck Surgery, University Medical Center Freiburg, Germany
    Acta Otolaryngol 131:1091-8. 2011
    ..Our results raise the question as to whether specific patterns of 'germline loss of heterozygosity (LOH)' could contribute to the genetic susceptibility for head and neck squamous cell carcinoma (HNSCC)...