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Items: 1 to 20 of 108

1.

Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy.

Weber BH, Vogt G, Pruett RC, Stöhr H, Felbor U.

Nat Genet. 1994 Dec;8(4):352-6.

PMID:
7894485
2.

A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy.

Felbor U, Stöhr H, Amann T, Schönherr U, Apfelstedt-Sylla E, Weber BH.

J Med Genet. 1996 Mar;33(3):233-6.

3.

TIMP3 mutation in Sorsby's fundus dystrophy: molecular insights.

Li Z, Clarke MP, Barker MD, McKie N.

Expert Rev Mol Med. 2005 Oct 31;7(24):1-15. Review.

PMID:
16259644
4.

[Sorsby's fundus dystrophy. A genetically homogeneous disease].

Felbor U, Weber BH.

Ophthalmologe. 1998 May;95(5):287-90. German.

PMID:
9643018
5.

Genomic organization of the human tissue inhibitor of metalloproteinases-3 (TIMP3)

Stöhr H, Roomp K, Felbor U, Weber BH.

Genome Res. 1995 Dec;5(5):483-7.

6.
7.

Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter.

Weber BH, Vogt G, Wolz W, Ives EJ, Ewing CC.

Nat Genet. 1994 Jun;7(2):158-61.

PMID:
7920634
8.

Evaluation of the gene encoding the tissue inhibitor of metalloproteinases-3 in various maculopathies.

Felbor U, Doepner D, Schneider U, Zrenner E, Weber BH.

Invest Ophthalmol Vis Sci. 1997 May;38(6):1054-9.

PMID:
9152224
9.

Exclusion of TIMP3 as a candidate locus in age-related macular degeneration.

De La Paz MA, Pericak-Vance MA, Lennon F, Haines JL, Seddon JM.

Invest Ophthalmol Vis Sci. 1997 May;38(6):1060-5.

PMID:
9152225
11.

A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features.

Felbor U, Stöhr H, Amann T, Schönherr U, Weber BH.

Hum Mol Genet. 1995 Dec;4(12):2415-6. No abstract available.

PMID:
8634721
12.

Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance.

Felbor U, Suvanto EA, Forsius HR, Eriksson AW, Weber BH.

Am J Hum Genet. 1997 Jan;60(1):57-62.

13.

A novel tissue inhibitor of metalloproteinases-3 mutation reveals a common molecular phenotype in Sorsby's fundus dystrophy.

Langton KP, McKie N, Curtis A, Goodship JA, Bond PM, Barker MD, Clarke M.

J Biol Chem. 2000 Sep 1;275(35):27027-31.

15.
16.

Molecular dissection of TIMP3 mutation S156C associated with Sorsby fundus dystrophy.

Fogarasi M, Janssen A, Weber BH, Stöhr H.

Matrix Biol. 2008 Jun;27(5):381-92. doi: 10.1016/j.matbio.2008.01.008. Epub 2008 Feb 5.

PMID:
18295466
17.

Sorsby's fundus dystrophy in a family with a Ser-181-CVS mutation in the TIMP-3 gene: poor outcome after laser photocoagulation.

Sieving PA, Boskovich S, Bingham E, Pawar H.

Trans Am Ophthalmol Soc. 1996;94:275-94; discussion 295-7.

18.
19.

Sorsby's fundus dystrophy in two Japanese families with unusual clinical features.

Isashiki Y, Tabata Y, Kamimura K, Ohba N.

Jpn J Ophthalmol. 1999 Nov-Dec;43(6):472-80.

PMID:
10672875
20.

Sorsby's fundus dystrophy in the British Isles: demonstration of a striking founder effect by microsatellite-generated haplotypes.

Wijesuriya SD, Evans K, Jay MR, Davison C, Weber BH, Bird AC, Bhattacharya SS, Gregory CY.

Genome Res. 1996 Feb;6(2):92-101.

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