Ausgewählte Publikationen
Molekularbiologie / Genetik- Birkenhäger R, Prera N, Aschendorff A, Laszig R, Arndt S. A novel homozygous mutation in the EC1/EC2 interaction domain of the gap junction complex connexon 26 leads to profound hearing impairment. Biomed Res Int. 2014;2014:307976
- Prera N, Löhle E, Birkenhäger R. Progressive hearing impairment with deletion in GJB2 gene despite normal newborn hearing screening. Laryngorhinootologie. 2014 Apr;93(4):244-8
- Jakob TF, Birkenhäger R, Kayser G, Boedeker CC. Synchronous schwannoma of the vagus nerve and the cervical sympathetic chain. HNO. 2013 Jul;61(7):657-9
- Arndt S, Schild C, Doostkam S, Birkenhäger R, Laszig R, Prinz M, Aschendorff A. Necrotizing meningoencephalitis mimicking cerebellopontine angle tumor as late complication following cochlear implantation. Cochlear Implants Int. 2012 Feb;13(1):60-4
- Pfeiffer J, Maier W, Ridder GJ, Zaoui K, Birkenhäger R. LOH-profiling by SNP-mapping in a case of multifocal head and neck cancer. World J Clin Oncol. 2012 Feb 10;3(2):24-8
- Rădulescu L, Mârţu C, Birkenhäger R, Cozma S, Ungureanu L, Laszig R. Prevalence of mutations located at the dfnb1 locus in a population of cochlear implanted children in eastern Romania. Int J Pediatr Otorhinolaryngol. 2012 Jan;76(1):90-4
- Kunze M, Arndt S, Zimmer A, Földi M, Hanjalic-Beck A, Echternach M, Birkenhäger R, Aschendorff A. Idiopathic facial palsy during pregnancy. HNO. 2012 Feb;60(2):98-101
- Pfeiffer J, Wiech T, Maier W, Ridder GJ, Laszig R, Birkenhäger R. Head and neck cancer in young adults and nonsmokers: study of cancer susceptibility by genome-wide high-density SNP microarray mapping. Acta Otolaryngol. 2011 Oct;131(10):1091-8
- Schild C, Prera E, Lüblinghoff N, Arndt S, Aschendorff A, Birkenhäger R. Novel mutation in the homeobox domain of transcription factor POU3F4 associated with profound sensorineural hearing loss. Otol Neurotol. 2011 Jun;32(4):690-4
- Masri A, Bakri FG, Birkenhäger R, Alassaf A, Musharbash AF, Haroun A, Zak I. Mondini malformation associated with diastematomyelia and presenting with recurrent meningitis. J Child Neurol. 2011 May;26(5):622-4
- Birkenhäger R, Lüblinghoff N, Prera E, Schild C, Aschendorff A, Arndt S. Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene. Am J Med Genet A. 2010 Jul;152A(7):1798-802
- Wilch E, Azaiez H, Fisher RA, Elfenbein J, Murgia A, Birkenhäger R, Bolz H, Da Silva-Costa SM, Del Castillo I, Haaf T, Hoefsloot L, Kremer H, Kubisch C, Le Marechal C, Pandya A, Sartorato EL, Schneider E, Van Camp G, Wuyts W, Smith RJ, Friderici KH. A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression. Clin Genet. 2010 Sep;78(3):267-74
- Arndt S, Aschendorff A, Schild C, Beck R, Maier W, Laszig R, Birkenhäger R. A novel dominant and a de novo mutation in the GJB2 gene (connexin-26) cause keratitis-ichthyosis-deafness syndrome: implication for cochlear implantation. Otol Neurotol. 2010 Feb;31(2):210-5
- Arndt S, Laszig R, Beck R, Schild C, Maier W, Birkenhäger R, Kroeger S, Wesarg T, Aschendorff A. Spectrum of hearing disorders and their management in children with CHARGE syndrome. Otol Neurotol. 2010 Jan;31(1):67-73
- Birkenhäger R, Maier W, Kunze M, Aschendorff A, Arndt S. Rapid umbilical cord diagnostic of hereditary profound hearing loss: how we do it. Clin Otolaryngol. 2009 Aug;34(4):374-6
- Aschendorff A, Laszig R, Maier W, Beck R, Schild C, Birkenhäger R, Wesarg T, Kröger S, Arndt S. Cochlear implant for malformations of the inner ear. HNO. 2009 Jun;57(6):533-41
- Birkenhäger R, Aschendorff A, Schipper J, Laszig R. Non-syndromic hereditary hearing impairment. Laryngorhinootologie. 2007 Apr;86(4):299-309; quiz 310-3. Review
- Birkenhäger R, Zimmer AJ, Maier W, Klenzner T, Aschendorff A, Schipper J. Evidence of a novel gene for the LAV-syndrome. Laryngorhinootologie. 2007 Feb;86(2):102-6
- Reardon W, Casserly LF, Birkenhäger R, Kohlhase J. Kidney failure in Townes-Brocks syndrome: an under recognized phenomenon? Am J Med Genet A. 2007 Nov 1;143A(21):2588-91
- Birkenhäger R, Zimmer AJ, Maier W, Schipper J. Pseudodominants of two recessive connexin mutations in non-syndromic sensorineural hearing loss? Laryngorhinootologie. 2006 Mar;85(3):191-6
- Birkenhäger R, Knapp FB, Klenzner T, Aschendorff A, Schipper J. Identification of two heterozygous mutations in the SLC26A4/PDS gene in a familywith Pendred-syndrome. Laryngorhinootologie. 2004 Dec;83(12):831-5
- Estévez R, Boettger T, Stein V, Birkenhäger R, Otto E, Hildebrandt F, Jentsch TJ. Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion. Nature. 2001 Nov 29;414(6863):558-61
- Birkenhäger R, Otto E, Schürmann MJ, Vollmer M, Ruf EM, Maier-Lutz I, Beekmann F, Fekete A, Omran H, Feldmann D, Milford DV, Jeck N, Konrad M, Landau D, Knoers NV, Antignac C, Sudbrak R, Kispert A, Hildebrandt F. Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet. 2001 Nov;29(3):310-4
Molekularbiologie / Genetik
Labor- und Projektleiter
Prof. Dr. rer. nat. R. Birkenhäger