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Publications by Felbor, U

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Jump to: 1998 | 1997 | 1996 | 1995 | 1994
Number of items: 11.

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.

This list was generated on Tue Sep 17 16:27:46 2019 CEST.
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