Kellner U - Search Results

1

Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.

Schulz HL, Grassmann F, Kellner U, Spital G, Rüther K, Jägle H, Hufendiek K, Rating P, Huchzermeyer C, Baier MJ, Weber BH, Stöhr H. Schulz HL, et al. Among authors: kellner u. Invest Ophthalmol Vis Sci. 2017 Jan 1;58(1):394-403. doi: 10.1167/iovs.16-19936. Invest Ophthalmol Vis Sci. 2017. PMID: 28118664 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

Mapping and genomic characterization of the gene encoding diacylglycerol kinase gamma (DAGK3): assessment of its role in dominant optic atrophy (OPA1).

Stöhr H, Klein J, Gehrig A, Koehler MR, Jurklies B, Kellner U, Leo-Kottler B, Schmid M, Weber BH. Stöhr H, et al. Among authors: kellner u. Hum Genet. 1999 Jan;104(1):99-105. doi: 10.1007/s004390050917. Hum Genet. 1999. PMID: 10071200

4

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

5

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

6

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

7

Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.

Yzer S, Leroy BP, De Baere E, de Ravel TJ, Zonneveld MN, Voesenek K, Kellner U, Ciriano JP, de Faber JT, Rohrschneider K, Roepman R, den Hollander AI, Cruysberg JR, Meire F, Casteels I, van Moll-Ramirez NG, Allikmets R, van den Born LI, Cremers FP. Yzer S, et al. Among authors: kellner u. Invest Ophthalmol Vis Sci. 2006 Mar;47(3):1167-76. doi: 10.1167/iovs.05-0848. Invest Ophthalmol Vis Sci. 2006. PMID: 16505055 Free article.

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

ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.

Kitiratschky VB, Grau T, Bernd A, Zrenner E, Jägle H, Renner AB, Kellner U, Rudolph G, Jacobson SG, Cideciyan AV, Schaich S, Kohl S, Wissinger B. Kitiratschky VB, et al. Among authors: kellner u. Eur J Hum Genet. 2008 Jul;16(7):812-9. doi: 10.1038/ejhg.2008.23. Epub 2008 Feb 20. Eur J Hum Genet. 2008. PMID: 18285826 Free PMC article.

10

Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration.

Kitiratschky VB, Wilke R, Renner AB, Kellner U, Vadalà M, Birch DG, Wissinger B, Zrenner E, Kohl S. Kitiratschky VB, et al. Among authors: kellner u. Invest Ophthalmol Vis Sci. 2008 Nov;49(11):5015-23. doi: 10.1167/iovs.08-1901. Epub 2008 May 16. Invest Ophthalmol Vis Sci. 2008. PMID: 18487367 Free PMC article.

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