Wissinger B - Search Results

1

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.

Glöckle N, Kohl S, Mohr J, Scheurenbrand T, Sprecher A, Weisschuh N, Bernd A, Rudolph G, Schubach M, Poloschek C, Zrenner E, Biskup S, Berger W, Wissinger B, Neidhardt J. Glöckle N, et al. Among authors: wissinger b. Eur J Hum Genet. 2014 Jan;22(1):99-104. doi: 10.1038/ejhg.2013.72. Epub 2013 Apr 17. Eur J Hum Genet. 2014. PMID: 23591405 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

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

[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.

8

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.

9

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

10

Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene.

Besch D, Leo-Kottler B, Zrenner E, Wissinger B. Besch D, et al. Among authors: wissinger b. Graefes Arch Clin Exp Ophthalmol. 1999 Sep;237(9):745-52. doi: 10.1007/s004170050307. Graefes Arch Clin Exp Ophthalmol. 1999. PMID: 10447650

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