Wedemann H - 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. Among authors: wedemann h. 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. Among authors: wedemann h. 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

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. Among authors: wedemann h. Hum Mutat. 1995;6(3):257-9. doi: 10.1002/humu.1380060312. Hum Mutat. 1995. PMID: 8535448 No abstract available.

4

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: wedemann h. Mol Cell Probes. 1995 Feb;9(1):67-9. doi: 10.1016/s0890-8508(95)91052-2. Mol Cell Probes. 1995. PMID: 7760863

5

Ocular findings in patients with autosomal dominant retinitis pigmentosa and Cys110Phe, Arg135Gly, and Gln344stop mutations of rhodopsin.

Kremmer S, Eckstein A, Gal A, Apfelstedt-Sylla E, Wedemann H, Rüther K, Zrenner E. Kremmer S, et al. Among authors: wedemann h. Graefes Arch Clin Exp Ophthalmol. 1997 Sep;235(9):575-83. doi: 10.1007/BF00947087. Graefes Arch Clin Exp Ophthalmol. 1997. PMID: 9342608

6

Analysis of sex and delta F508 in single amniocytes using primer extension preamplification.

Schaaff F, Wedemann H, Schwinger E. Schaaff F, et al. Among authors: wedemann h. Hum Genet. 1996 Aug;98(2):158-61. doi: 10.1007/s004390050180. Hum Genet. 1996. PMID: 8698332

7

Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene.

Apfelstedt-Sylla E, Theischen M, Rüther K, Wedemann H, Gal A, Zrenner E. Apfelstedt-Sylla E, et al. Among authors: wedemann h. Br J Ophthalmol. 1995 Jan;79(1):28-34. doi: 10.1136/bjo.79.1.28. Br J Ophthalmol. 1995. PMID: 7880786 Free PMC article.

8

Molecular analysis and genetic mapping of the rhodopsin gene in families with autosomal dominant retinitis pigmentosa.

Bunge S, Wedemann H, David D, Terwilliger DJ, van den Born LI, Aulehla-Scholz C, Samanns C, Horn M, Ott J, Schwinger E, et al. Bunge S, et al. Among authors: wedemann h. Genomics. 1993 Jul;17(1):230-3. doi: 10.1006/geno.1993.1309. Genomics. 1993. PMID: 8406457

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