Berger W - Search Results

1

Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.

Haghighi A, Tiwari A, Piri N, Nürnberg G, Saleh-Gohari N, Haghighi A, Neidhardt J, Nürnberg P, Berger W. Haghighi A, et al. Among authors: berger w. PLoS One. 2014 Nov 13;9(11):e112747. doi: 10.1371/journal.pone.0112747. eCollection 2014. PLoS One. 2014. PMID: 25392994 Free PMC article.

2

Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.

Zeitz C, van Genderen M, Neidhardt J, Luhmann UF, Hoeben F, Forster U, Wycisk K, Mátyás G, Hoyng CB, Riemslag F, Meire F, Cremers FP, Berger W. Zeitz C, et al. Among authors: berger w. Invest Ophthalmol Vis Sci. 2005 Nov;46(11):4328-35. doi: 10.1167/iovs.05-0526. Invest Ophthalmol Vis Sci. 2005. PMID: 16249515

3

Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes.

Neidhardt J, Barthelmes D, Farahmand F, Fleischhauer JC, Berger W. Neidhardt J, et al. Among authors: berger w. Invest Ophthalmol Vis Sci. 2006 Apr;47(4):1630-5. doi: 10.1167/iovs.05-1317. Invest Ophthalmol Vis Sci. 2006. PMID: 16565402

4

Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation.

Wycisk KA, Budde B, Feil S, Skosyrski S, Buzzi F, Neidhardt J, Glaus E, Nürnberg P, Ruether K, Berger W. Wycisk KA, et al. Among authors: berger w. Invest Ophthalmol Vis Sci. 2006 Aug;47(8):3523-30. doi: 10.1167/iovs.06-0271. Invest Ophthalmol Vis Sci. 2006. PMID: 16877424

5

Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy.

Wycisk KA, Zeitz C, Feil S, Wittmer M, Forster U, Neidhardt J, Wissinger B, Zrenner E, Wilke R, Kohl S, Berger W. Wycisk KA, et al. Among authors: berger w. Am J Hum Genet. 2006 Nov;79(5):973-7. doi: 10.1086/508944. Epub 2006 Sep 27. Am J Hum Genet. 2006. PMID: 17033974 Free PMC article.

6

Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking.

Zeitz C, Forster U, Neidhardt J, Feil S, Kälin S, Leifert D, Flor PJ, Berger W. Zeitz C, et al. Among authors: berger w. Hum Mutat. 2007 Aug;28(8):771-80. doi: 10.1002/humu.20499. Hum Mutat. 2007. PMID: 17405131

7

Identification and characterization of a novel RPGR isoform in human retina.

Neidhardt J, Glaus E, Barthelmes D, Zeitz C, Fleischhauer J, Berger W. Neidhardt J, et al. Among authors: berger w. Hum Mutat. 2007 Aug;28(8):797-807. doi: 10.1002/humu.20521. Hum Mutat. 2007. PMID: 17405150

8

Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria.

Kloeckener-Gruissem B, Vandekerckhove K, Nürnberg G, Neidhardt J, Zeitz C, Nürnberg P, Schipper I, Berger W. Kloeckener-Gruissem B, et al. Among authors: berger w. Am J Hum Genet. 2008 Mar;82(3):772-9. doi: 10.1016/j.ajhg.2007.12.013. Epub 2008 Feb 14. Am J Hum Genet. 2008. PMID: 18304496 Free PMC article.

9

Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB.

Zeitz C, Gross AK, Leifert D, Kloeckener-Gruissem B, McAlear SD, Lemke J, Neidhardt J, Berger W. Zeitz C, et al. Among authors: berger w. Invest Ophthalmol Vis Sci. 2008 Sep;49(9):4105-14. doi: 10.1167/iovs.08-1717. Epub 2008 May 16. Invest Ophthalmol Vis Sci. 2008. PMID: 18487375

10

Vascular changes in the cerebellum of Norrin /Ndph knockout mice correlate with high expression of Norrin and Frizzled-4.

Luhmann UF, Neidhardt J, Kloeckener-Gruissem B, Schäfer NF, Glaus E, Feil S, Berger W. Luhmann UF, et al. Among authors: berger w. Eur J Neurosci. 2008 May;27(10):2619-28. doi: 10.1111/j.1460-9568.2008.06237.x. Eur J Neurosci. 2008. PMID: 18547247 Free article.

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