Wissinger B - Search Results

1

Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy.

Fuhrmann N, Alavi MV, Bitoun P, Woernle S, Auburger G, Leo-Kottler B, Yu-Wai-Man P, Chinnery P, Wissinger B. Fuhrmann N, et al. Among authors: wissinger b. J Med Genet. 2009 Feb;46(2):136-44. doi: 10.1136/jmg.2008.062570. J Med Genet. 2009. PMID: 19181907

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

[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.

7

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

8

Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.

Kohl S, Baumann B, Broghammer M, Jägle H, Sieving P, Kellner U, Spegal R, Anastasi M, Zrenner E, Sharpe LT, Wissinger B. Kohl S, et al. Among authors: wissinger b. Hum Mol Genet. 2000 Sep 1;9(14):2107-16. doi: 10.1093/hmg/9.14.2107. Hum Mol Genet. 2000. PMID: 10958649

9

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.

Alexander C, Votruba M, Pesch UE, Thiselton DL, Mayer S, Moore A, Rodriguez M, Kellner U, Leo-Kottler B, Auburger G, Bhattacharya SS, Wissinger B. Alexander C, et al. Among authors: wissinger b. Nat Genet. 2000 Oct;26(2):211-5. doi: 10.1038/79944. Nat Genet. 2000. PMID: 11017080

10

Segregation patterns and heteroplasmy prevalence in Leber's hereditary optic neuropathy.

Jacobi FK, Leo-Kottler B, Mittelviefhaus K, Zrenner E, Meyer J, Pusch CM, Wissinger B. Jacobi FK, et al. Among authors: wissinger b. Invest Ophthalmol Vis Sci. 2001 May;42(6):1208-14. Invest Ophthalmol Vis Sci. 2001. PMID: 11328729

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