Wissinger B - Search Results

1

A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect.

Kohl S, Llavona P, Sauer A, Reuter P, Weisschuh N, Kempf M, Dehmelt FA, Arrenberg AB, Sliesoraityte I, Zrenner E, van Schooneveld MJ, Rudolph G, Kühlewein L, Wissinger B. Kohl S, et al. Among authors: wissinger b. Hum Mol Genet. 2021 Jun 17;30(13):1218-1229. doi: 10.1093/hmg/ddab117. Hum Mol Genet. 2021. PMID: 33891002 Free PMC article.

2

Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene.

Leo-Kottler B, Christ-Adler M, Baumann B, Zrenner E, Wissinger B. Leo-Kottler B, et al. Among authors: wissinger b. Ger J Ophthalmol. 1996 Jul;5(4):233-40. Ger J Ophthalmol. 1996. PMID: 8854108

3

Analysis of 21 Stargardt's disease families confirms a major locus on chromosome 1p with evidence for non-allelic heterogeneity in a minority of cases.

Weber BH, Sander S, Kopp C, Walker D, Eckstein A, Wissinger B, Zrenner E, Grimm T. Weber BH, et al. Among authors: wissinger b. Br J Ophthalmol. 1996 Aug;80(8):745-9. doi: 10.1136/bjo.80.8.745. Br J Ophthalmol. 1996. PMID: 8949721 Free PMC article.

4

RDS/peripherin gene mutations are frequent causes of central retinal dystrophies.

Kohl S, Christ-Adler M, Apfelstedt-Sylla E, Kellner U, Eckstein A, Zrenner E, Wissinger B. Kohl S, et al. Among authors: wissinger b. J Med Genet. 1997 Aug;34(8):620-6. doi: 10.1136/jmg.34.8.620. J Med Genet. 1997. PMID: 9279751 Free PMC article.

5

Cloning, chromosomal localization and functional expression of the gene encoding the alpha-subunit of the cGMP-gated channel in human cone photoreceptors.

Wissinger B, Müller F, Weyand I, Schuffenhauer S, Thanos S, Kaupp UB, Zrenner E. Wissinger B, et al. Eur J Neurosci. 1997 Dec;9(12):2512-21. doi: 10.1111/j.1460-9568.1997.tb01680.x. Eur J Neurosci. 1997. PMID: 9517456

6

Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.

Kohl S, Marx T, Giddings I, Jägle H, Jacobson SG, Apfelstedt-Sylla E, Zrenner E, Sharpe LT, Wissinger B. Kohl S, et al. Among authors: wissinger b. Nat Genet. 1998 Jul;19(3):257-9. doi: 10.1038/935. Nat Genet. 1998. PMID: 9662398

7

Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11.

Wissinger B, Jägle H, Kohl S, Broghammer M, Baumann B, Hanna DB, Hedels C, Apfelstedt-Sylla E, Randazzo G, Jacobson SG, Zrenner E, Sharpe LT. Wissinger B, et al. Genomics. 1998 Aug 1;51(3):325-31. doi: 10.1006/geno.1998.5390. Genomics. 1998. PMID: 9721202 Free article.

8

[Diagnostic error in Leber's optic neuropathy. Value of clinical and molecular genetic studies].

Leo-Kottler B, Christ-Adler M, Wissinger B, Zrenner E. Leo-Kottler B, et al. Among authors: wissinger b. Ophthalmologe. 1998 Aug;95(8):549-54. doi: 10.1007/s003470050314. Ophthalmologe. 1998. PMID: 9782731 German.

9

The role of the peripherin/RDS gene in retinal dystrophies.

Kohl S, Giddings I, Besch D, Apfelstedt-Sylla E, Zrenner E, Wissinger B. Kohl S, et al. Among authors: wissinger b. Acta Anat (Basel). 1998;162(2-3):75-84. doi: 10.1159/000046471. Acta Anat (Basel). 1998. PMID: 9831753 Review.

10

Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis.

Seeliger MW, Biesalski HK, Wissinger B, Gollnick H, Gielen S, Frank J, Beck S, Zrenner E. Seeliger MW, et al. Among authors: wissinger b. Invest Ophthalmol Vis Sci. 1999 Jan;40(1):3-11. Invest Ophthalmol Vis Sci. 1999. PMID: 9888420

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