Fuchs S - Search Results

1

A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease.

Fuchs S, Xu SY, Caballero M, Salcedo M, La O A, Wedemann H, Gal A. Fuchs S, et al. Hum Mol Genet. 1994 Apr;3(4):655-6. doi: 10.1093/hmg/3.4.655. Hum Mol Genet. 1994. PMID: 8069314 No abstract available.

2

Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).

Fuchs S, Sarde CO, Wedemann H, Schwinger E, Mandel JL, Gal A. Fuchs S, et al. Hum Mol Genet. 1994 Oct;3(10):1903-5. doi: 10.1093/hmg/3.10.1903. Hum Mol Genet. 1994. PMID: 7849723 No abstract available.

3

Heterozygous 'null allele' mutation in the human peripherin/RDS gene.

Meins M, Grüning G, Blankenagel A, Krastel H, Reck B, Fuchs S, Schwinger E, Gal A. Meins M, et al. Among authors: fuchs s. Hum Mol Genet. 1993 Dec;2(12):2181-2. doi: 10.1093/hmg/2.12.2181. Hum Mol Genet. 1993. PMID: 8111389 No abstract available.

4

Missense mutation (Arg121Trp) in the Norrie disease gene associated with x-linked exudative vitreoretinopathy.

Fuchs S, Kellner U, Wedemann H, Gal A. Fuchs S, et al. Hum Mutat. 1995;6(3):257-9. doi: 10.1002/humu.1380060312. Hum Mutat. 1995. PMID: 8535448 No abstract available.

5

Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome.

Fuchs S, van de Pol D, Beudt U, Kellner U, Meire F, Berger W, Gal A. Fuchs S, et al. Hum Mutat. 1996;8(1):85-8. doi: 10.1002/(SICI)1098-1004(1996)8:1<85::AID-HUMU15>3.0.CO;2-N. Hum Mutat. 1996. PMID: 8807344 Free article. No abstract available.

6

A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese.

Fuchs S, Nakazawa M, Maw M, Tamai M, Oguchi Y, Gal A. Fuchs S, et al. Nat Genet. 1995 Jul;10(3):360-2. doi: 10.1038/ng0795-360. Nat Genet. 1995. PMID: 7670478

7

Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa.

Fuchs S, Kranich H, Denton MJ, Zrenner E, Bhattacharya SS, Humphries P, Gal A. Fuchs S, et al. Hum Mol Genet. 1994 Jul;3(7):1203. doi: 10.1093/hmg/3.7.1203. Hum Mol Genet. 1994. PMID: 7981701 No abstract available.

8

Ocular phenotypes associated with two mutations (R121W, C126X) in the Norrie disease gene.

Kellner U, Fuchs S, Bornfeld N, Foerster MH, Gal A. Kellner U, et al. Among authors: fuchs s. Ophthalmic Genet. 1996 Jun;17(2):67-74. doi: 10.3109/13816819609057873. Ophthalmic Genet. 1996. PMID: 8832723

9

Gly114Asp mutation of rhodopsin in autosomal dominant retinitis pigmentosa.

Millán JM, Fuchs S, Paricio N, Wedemann H, Gal A, Nájera C, Prieto F. Millán JM, et al. Among authors: fuchs s. Mol Cell Probes. 1995 Feb;9(1):67-9. doi: 10.1016/s0890-8508(95)91052-2. Mol Cell Probes. 1995. PMID: 7760863

10

Oguchi disease: phenotypic characteristics of patients with the frequent 1147delA mutation in the arrestin gene.

Nakazawa M, Wada Y, Fuchs S, Gal A, Tamai M. Nakazawa M, et al. Among authors: fuchs s. Retina. 1997;17(1):17-22. doi: 10.1097/00006982-199701000-00004. Retina. 1997. PMID: 9051837

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