Wissinger B - Search Results

1

The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy.

Wissinger B, Baumann B, Buena-Atienza E, Ravesh Z, Cideciyan AV, Stingl K, Audo I, Meunier I, Bocquet B, Traboulsi EI, Hardcastle AJ, Gardner JC, Michaelides M, Branham KE, Rosenberg T, Andreasson S, Dollfus H, Birch D, Vincent AL, Martorell L, Català Mora J, Kellner U, Rüther K, Lorenz B, Preising MN, Manfredini E, Zarate YA, Vijzelaar R, Zrenner E, Jacobson SG, Kohl S. Wissinger B, et al. Proc Natl Acad Sci U S A. 2022 Jul 5;119(27):e2115538119. doi: 10.1073/pnas.2115538119. Epub 2022 Jun 27. Proc Natl Acad Sci U S A. 2022. PMID: 35759666 Free PMC article.

2

[Correlation between clinical and molecular genetic findings in Leber's optic atrophy].

Leo-Kottler B, Christ-Adler M, Reck B, Wissinger B, Zrenner E. Leo-Kottler B, et al. Among authors: wissinger b. Ophthalmologe. 1995 Feb;92(1):86-92. Ophthalmologe. 1995. PMID: 7719084 German.

3

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

4

Mutation analysis of the ND6 gene in patients with Lebers hereditary optic neuropathy.

Wissinger B, Besch D, Baumann B, Fauser S, Christ-Adler M, Jurklies B, Zrenner E, Leo-Kottler B. Wissinger B, et al. Biochem Biophys Res Commun. 1997 May 19;234(2):511-5. doi: 10.1006/bbrc.1997.6660. Biochem Biophys Res Commun. 1997. PMID: 9177303

5

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.

6

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

7

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

8

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.

9

[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.

10

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.

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