Birkenhäger R - Search Results

1

Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.

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. Birkenhäger R, et al. Nat Genet. 2001 Nov;29(3):310-4. doi: 10.1038/ng752. Nat Genet. 2001. PMID: 11687798

2

Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion.

Estévez R, Boettger T, Stein V, Birkenhäger R, Otto E, Hildebrandt F, Jentsch TJ. Estévez R, et al. Among authors: birkenhager r. Nature. 2001 Nov 29;414(6863):558-61. doi: 10.1038/35107099. Nature. 2001. PMID: 11734858

3

A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.

Otto E, Hoefele J, Ruf R, Mueller AM, Hiller KS, Wolf MT, Schuermann MJ, Becker A, Birkenhäger R, Sudbrak R, Hennies HC, Nürnberg P, Hildebrandt F. Otto E, et al. Among authors: birkenhager r. Am J Hum Genet. 2002 Nov;71(5):1161-7. doi: 10.1086/344395. Epub 2002 Aug 29. Am J Hum Genet. 2002. PMID: 12205563 Free PMC article.

4

Kidney failure in Townes-Brocks syndrome: an under recognized phenomenon?

Reardon W, Casserly LF, Birkenhäger R, Kohlhase J. Reardon W, et al. Among authors: birkenhager r. Am J Med Genet A. 2007 Nov 1;143A(21):2588-91. doi: 10.1002/ajmg.a.31699. Am J Med Genet A. 2007. PMID: 17910067

5

Novel mutation in the homeobox domain of transcription factor POU3F4 associated with profound sensorineural hearing loss.

Schild C, Prera E, Lüblinghoff N, Arndt S, Aschendorff A, Birkenhäger R. Schild C, et al. Among authors: birkenhager r. Otol Neurotol. 2011 Jun;32(4):690-4. doi: 10.1097/MAO.0b013e318210b749. Otol Neurotol. 2011. PMID: 21555964

6

[Identification of two heterozygous mutations in the SLC26A4/PDS gene in a family with Pendred-syndrome].

Birkenhäger R, Knapp FB, Klenzner T, Aschendorff A, Schipper J. Birkenhäger R, et al. Laryngorhinootologie. 2004 Dec;83(12):831-5. doi: 10.1055/s-2004-826001. Laryngorhinootologie. 2004. PMID: 15611902 German.

7

[Pseudodominants of two recessive connexin mutations in non-syndromic sensorineural hearing loss?].

Birkenhäger R, Zimmer AJ, Maier W, Schipper J. Birkenhäger R, et al. Laryngorhinootologie. 2006 Mar;85(3):191-6. doi: 10.1055/s-2005-870302. Laryngorhinootologie. 2006. PMID: 16547895 German.

8

[Evidence of a novel gene for the LAV-syndrome].

Birkenhäger R, Zimmer AJ, Maier W, Klenzner T, Aschendorff A, Schipper J. Birkenhäger R, et al. Laryngorhinootologie. 2007 Feb;86(2):102-6. doi: 10.1055/s-2006-944746. Epub 2006 Nov 27. Laryngorhinootologie. 2007. PMID: 17131260 German.

9

[Non-syndromic hereditary hearing impairment].

Birkenhäger R, Aschendorff A, Schipper J, Laszig R. Birkenhäger R, et al. Laryngorhinootologie. 2007 Apr;86(4):299-309; quiz 310-3. doi: 10.1055/s-2007-966309. Laryngorhinootologie. 2007. PMID: 17407011 Review. German.

10

A novel dominant and a de novo mutation in the GJB2 gene (connexin-26) cause keratitis-ichthyosis-deafness syndrome: implication for cochlear implantation.

Arndt S, Aschendorff A, Schild C, Beck R, Maier W, Laszig R, Birkenhäger R. Arndt S, et al. Among authors: birkenhager r. Otol Neurotol. 2010 Feb;31(2):210-5. doi: 10.1097/MAO.0b013e3181cc09cd. Otol Neurotol. 2010. PMID: 20101161

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