Nürnberg P - Search Results

1

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: nurnberg p. Invest Ophthalmol Vis Sci. 2006 Aug;47(8):3523-30. doi: 10.1167/iovs.06-0271. Invest Ophthalmol Vis Sci. 2006. PMID: 16877424

2

Three novel Pax6 alleles in the mouse leading to the same small-eye phenotype caused by different consequences at target promoters.

Graw J, Löster J, Puk O, Münster D, Haubst N, Soewarto D, Fuchs H, Meyer B, Nürnberg P, Pretsch W, Selby P, Favor J, Wolf E, Hrabé de Angelis M. Graw J, et al. Among authors: nurnberg p. Invest Ophthalmol Vis Sci. 2005 Dec;46(12):4671-83. doi: 10.1167/iovs.04-1407. Invest Ophthalmol Vis Sci. 2005. PMID: 16303964

3

Genes from Chagas susceptibility loci that are differentially expressed in T. cruzi-resistant mice are candidates accounting for impaired immunity.

Graefe SE, Streichert T, Budde BS, Nürnberg P, Steeg C, Müller-Myhsok B, Fleischer B. Graefe SE, et al. Among authors: nurnberg p. PLoS One. 2006 Dec 20;1(1):e57. doi: 10.1371/journal.pone.0000057. PLoS One. 2006. PMID: 17183687 Free PMC article.

4

Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene.

Budde BS, Binner P, Waldmüller S, Höhne W, Blankenfeldt W, Hassfeld S, Brömsen J, Dermintzoglou A, Wieczorek M, May E, Kirst E, Selignow C, Rackebrandt K, Müller M, Goody RS, Vosberg HP, Nürnberg P, Scheffold T. Budde BS, et al. Among authors: nurnberg p. PLoS One. 2007 Dec 26;2(12):e1362. doi: 10.1371/journal.pone.0001362. PLoS One. 2007. PMID: 18159245 Free PMC article.

5

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: nurnberg p, nurnberg g. 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.

6

Mutation in a novel connexin-like gene (Gjf1) in the mouse affects early lens development and causes a variable small-eye phenotype.

Puk O, Löster J, Dalke C, Soewarto D, Fuchs H, Budde B, Nürnberg P, Wolf E, de Angelis MH, Graw J. Puk O, et al. Among authors: nurnberg p. Invest Ophthalmol Vis Sci. 2008 Apr;49(4):1525-32. doi: 10.1167/iovs.07-1033. Invest Ophthalmol Vis Sci. 2008. PMID: 18385072

7

Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.

Neidhardt J, Glaus E, Lorenz B, Netzer C, Li Y, Schambeck M, Wittmer M, Feil S, Kirschner-Schwabe R, Rosenberg T, Cremers FP, Bergen AA, Barthelmes D, Baraki H, Schmid F, Tanner G, Fleischhauer J, Orth U, Becker C, Wegscheider E, Nürnberg G, Nürnberg P, Bolz HJ, Gal A, Berger W. Neidhardt J, et al. Among authors: nurnberg p, nurnberg g. Mol Vis. 2008 Jun 6;14:1081-93. Mol Vis. 2008. PMID: 18552978 Free PMC article.

8

Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract.

Hansen L, Mikkelsen A, Nürnberg P, Nürnberg G, Anjum I, Eiberg H, Rosenberg T. Hansen L, et al. Among authors: nurnberg p, nurnberg g. Invest Ophthalmol Vis Sci. 2009 Jul;50(7):3291-303. doi: 10.1167/iovs.08-3149. Epub 2009 Jan 31. Invest Ophthalmol Vis Sci. 2009. PMID: 19182255

9

A new Fgf10 mutation in the mouse leads to atrophy of the harderian gland and slit-eye phenotype in heterozygotes: a novel model for dry-eye disease?

Puk O, Esposito I, Söker T, Löster J, Budde B, Nürnberg P, Michel-Soewarto D, Fuchs H, Wolf E, Hrabé de Angelis M, Graw J. Puk O, et al. Among authors: nurnberg p. Invest Ophthalmol Vis Sci. 2009 Sep;50(9):4311-8. doi: 10.1167/iovs.09-3451. Epub 2009 Apr 30. Invest Ophthalmol Vis Sci. 2009. PMID: 19407009

10

U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation.

Schmid F, Glaus E, Barthelmes D, Fliegauf M, Gaspar H, Nürnberg G, Nürnberg P, Omran H, Berger W, Neidhardt J. Schmid F, et al. Among authors: nurnberg p, nurnberg g. Hum Mutat. 2011 Jul;32(7):815-24. doi: 10.1002/humu.21509. Hum Mutat. 2011. PMID: 21520335

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