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Publications by Felbor, U.

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Jump to: 2007 | 1998 | 1997 | 1996 | 1995 | 1994
Number of items: 12.

2007

Stahl, S., Reinders, Yvonne, Asan, E., Mothes, W., Conzelmann, E., Sickmann, A. and Felbor, U. (2007) Proteomic analysis of cathepsin B- and L-deficient mouse brain lysosomes. Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics 1774 (10), pp. 1237-1246. Fulltext not available.

1998

Gehrig, A., Felbor, U., Kelsell, R. E., Hunt, D. M., Maumenee, I. H. and Weber, Bernhard H. F. (1998) Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1). Journal of Medical Genetics 35 (8), pp. 641-645. Fulltext not available.

Felbor, U., Gehrig, A., Sauer, C. G., Marquardt, A., Köhler, M., Schmid, M. and Weber, Bernhard H. F. (1998) Genomic organization and chromosomal localization of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene: a candidate for 6q-linked retinopathies. Cytogenetics and cell genetics 81, pp. 12-17. Fulltext not available.

Felbor, U. and Weber, Bernhard H. F. (1998) Sorsby's fundus dystrophy: Eine genetisch homogene Erkrankung - a genetically homogeneous condition. Der Ophthalmologe 95 (5), pp. 287-290. Fulltext not available.

1997

Felbor, U., Schilling, H. and Weber, Bernhard H. F. (1997) Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene. Human Mutation 10 (4), pp. 301-309. Fulltext not available.

Felbor, U., Suvanto, E. A., Forsius, H. R., Eriksson, A. W. and Weber, Bernhard H. F. (1997) Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance. The American Journal of Human Genetics 60 (1), pp. 57-62. Fulltext not available.

Felbor, U., Doepner, D., Schneider, U., Zrenner, E. and Weber, Bernhard H. F. (1997) Evaluation of the gene encoding the tissue inhibitor of metalloproteinases-3 in various maculopathies. Investigative ophthalmology & visual science 38 (6), pp. 1054-1059.

Felbor, U., Benkwitz, C., Klein, M. L., Greenberg, J., Gregory, C. Y. and Weber, Bernhard H. F. (1997) Sorsby's fundus dystrophy: Reevaluation of variable expressivity in patients carrying a TIMP3 founder mutation. Archives of Ophthalmology 115 (12), pp. 1569-1571. Fulltext not available.

1996

Felbor, U., Stöhr, H., Amann, T., Schönherr, U., Apfelstedt-Sylla, E. and Weber, Bernhard H. F. (1996) A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy. Journal of Medical Genetics 33 (3), pp. 233-236. Fulltext not available.

1995

Felbor, U., Stöhr, H., Amann, T., Schönherr, U. and Weber, Bernhard H. F. (1995) A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features. Human Molecular Genetics 4 (12), pp. 2415-2416. Fulltext not available.

Stöhr, H., Roomp, K., Felbor, U. and Weber, Bernhard H. F. (1995) Genomic organization of the human tissue inhibitor of metalloproteinases-3 (TIMP3). Genome research 5 (5), pp. 483-487.

1994

Weber, Bernhard H. F. , Vogt, G., Pruett, R. C., Stöhr, H. and Felbor, U. (1994) Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. Nature Genetics 8, pp. 352-356. Fulltext not available.

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