Kellner U - Search Results

1

Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.

Nachtigal AL, Milenkovic A, Brandl C, Schulz HL, Duerr LMJ, Lang GE, Reiff C, Herrmann P, Kellner U, Weber BHF. Nachtigal AL, et al. Among authors: kellner u. Int J Mol Sci. 2020 Feb 26;21(5):1597. doi: 10.3390/ijms21051597. Int J Mol Sci. 2020. PMID: 32111077 Free PMC article.

2

Refined mapping of the gene encoding the p127 kDa UV-damaged DNA-binding protein (DDB1) within 11q12-q13.1 and its exclusion in Best's vitelliform macular dystrophy.

Stöhr H, Marquardt A, Rivera A, Kellner U, Weber BH. Stöhr H, et al. Among authors: kellner u. Eur J Hum Genet. 1998 Jul-Aug;6(4):400-5. doi: 10.1038/sj.ejhg.5200196. Eur J Hum Genet. 1998. PMID: 9781049

3

Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration.

Krämer F, White K, Pauleikhoff D, Gehrig A, Passmore L, Rivera A, Rudolph G, Kellner U, Andrassi M, Lorenz B, Rohrschneider K, Blankenagel A, Jurklies B, Schilling H, Schütt F, Holz FG, Weber BH. Krämer F, et al. Among authors: kellner u. Eur J Hum Genet. 2000 Apr;8(4):286-92. doi: 10.1038/sj.ejhg.5200447. Eur J Hum Genet. 2000. PMID: 10854112

4

EFEMP1 is not associated with sporadic early onset drusen.

Sauer CG, White K, Kellner U, Rudolph G, Jurklies B, Pauleikhoff D, Weber BH. Sauer CG, et al. Among authors: kellner u. Ophthalmic Genet. 2001 Mar;22(1):27-34. doi: 10.1076/opge.22.1.27.2239. Ophthalmic Genet. 2001. PMID: 11262647

5

Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD).

Krämer F, Mohr N, Kellner U, Rudolph G, Weber BH. Krämer F, et al. Among authors: kellner u. Hum Mutat. 2003 Nov;22(5):418. doi: 10.1002/humu.9189. Hum Mutat. 2003. PMID: 14517959

6

Morphology and functional characteristics in adult vitelliform macular dystrophy.

Renner AB, Tillack H, Kraus H, Kohl S, Wissinger B, Mohr N, Weber BH, Kellner U, Foerster MH. Renner AB, et al. Among authors: kellner u. Retina. 2004 Dec;24(6):929-39. doi: 10.1097/00006982-200412000-00014. Retina. 2004. PMID: 15579992

7

Late onset is common in best macular dystrophy associated with VMD2 gene mutations.

Renner AB, Tillack H, Kraus H, Krämer F, Mohr N, Weber BH, Foerster MH, Kellner U. Renner AB, et al. Among authors: kellner u. Ophthalmology. 2005 Apr;112(4):586-92. doi: 10.1016/j.ophtha.2004.10.041. Ophthalmology. 2005. PMID: 15808248

8

ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT.

Renner AB, Kellner U, Fiebig B, Cropp E, Foerster MH, Weber BH. Renner AB, et al. Among authors: kellner u. Doc Ophthalmol. 2008 Mar;116(2):97-109. doi: 10.1007/s10633-007-9094-5. Epub 2007 Nov 7. Doc Ophthalmol. 2008. PMID: 17987333

9

Lipofuscin- and melanin-related fundus autofluorescence visualize different retinal pigment epithelial alterations in patients with retinitis pigmentosa.

Kellner U, Kellner S, Weber BH, Fiebig B, Weinitz S, Ruether K. Kellner U, et al. Among authors: kellner s. Eye (Lond). 2009 Jun;23(6):1349-59. doi: 10.1038/eye.2008.280. Epub 2008 Sep 12. Eye (Lond). 2009. PMID: 18791550

10

Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.

Renner AB, Fiebig BS, Weber BH, Wissinger B, Andreasson S, Gal A, Cropp E, Kohl S, Kellner U. Renner AB, et al. Among authors: kellner u. Am J Ophthalmol. 2009 Mar;147(3):518-530.e1. doi: 10.1016/j.ajo.2008.09.007. Epub 2008 Nov 26. Am J Ophthalmol. 2009. PMID: 19038374

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