Fauser S - Search Results

1

Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy.

Achilli A, Iommarini L, Olivieri A, Pala M, Hooshiar Kashani B, Reynier P, La Morgia C, Valentino ML, Liguori R, Pizza F, Barboni P, Sadun F, De Negri AM, Zeviani M, Dollfus H, Moulignier A, Ducos G, Orssaud C, Bonneau D, Procaccio V, Leo-Kottler B, Fauser S, Wissinger B, Amati-Bonneau P, Torroni A, Carelli V. Achilli A, et al. Among authors: fauser s. PLoS One. 2012;7(8):e42242. doi: 10.1371/journal.pone.0042242. Epub 2012 Aug 3. PLoS One. 2012. PMID: 22879922 Free PMC article.

2

Sequence analysis of the complete mitochondrial genome in patients with Leber's hereditary optic neuropathy lacking the three most common pathogenic DNA mutations.

Fauser S, Luberichs J, Besch D, Leo-Kottler B. Fauser S, et al. Biochem Biophys Res Commun. 2002 Jul 12;295(2):342-7. doi: 10.1016/s0006-291x(02)00672-1. Biochem Biophys Res Commun. 2002. PMID: 12150954

3

Confirmation of the 14568 mutation in the mitochondrial ND6 gene as causative in Leber's hereditary optic neuropathy.

Fauser S, Leo-Kottler B, Besch D, Luberichs J. Fauser S, et al. Ophthalmic Genet. 2002 Sep;23(3):191-7. doi: 10.1076/opge.23.3.191.7881. Ophthalmic Genet. 2002. PMID: 12324878

4

A mutational hot spot in the mitochondrial ND6 gene in patients with Leber's hereditary optic neuropathy.

Luberichs J, Leo-Kottler B, Besch D, Fauser S. Luberichs J, et al. Among authors: fauser s. Graefes Arch Clin Exp Ophthalmol. 2002 Feb;240(2):96-100. doi: 10.1007/s00417-001-0423-1. Graefes Arch Clin Exp Ophthalmol. 2002. PMID: 11931086

5

Simultaneous detection of multiple point mutations using fluorescence-coupled competitive primer extension.

Fauser S, Wissinger B. Fauser S, et al. Biotechniques. 1997 May;22(5):964-8. doi: 10.2144/97225rr05. Biotechniques. 1997. PMID: 9149883 Free article.

6

Leber's hereditary optic neuropathy: clinical and molecular genetic results in a patient with a point mutation at np T11253C (isoleucine to threonine) in the ND4 gene and spontaneous recovery.

Leo-Kottler B, Luberichs J, Besch D, Christ-Adler M, Fauser S. Leo-Kottler B, et al. Among authors: fauser s. Graefes Arch Clin Exp Ophthalmol. 2002 Sep;240(9):758-64. doi: 10.1007/s00417-002-0494-7. Epub 2002 Aug 2. Graefes Arch Clin Exp Ophthalmol. 2002. PMID: 12271374

7

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. Among authors: fauser s. Biochem Biophys Res Commun. 1997 May 19;234(2):511-5. doi: 10.1006/bbrc.1997.6660. Biochem Biophys Res Commun. 1997. PMID: 9177303

8

Genetic animal models for retinal degeneration.

Fauser S, Luberichs J, Schüttauf F. Fauser S, et al. Surv Ophthalmol. 2002 Jul-Aug;47(4):357-67. doi: 10.1016/s0039-6257(02)00314-4. Surv Ophthalmol. 2002. PMID: 12161211 Review.

9

Evaluation of the rhodopsin knockout mouse as a model of pure cone function.

Jaissle GB, May CA, Reinhard J, Kohler K, Fauser S, Lütjen-Drecoll E, Zrenner E, Seeliger MW. Jaissle GB, et al. Among authors: fauser s. Invest Ophthalmol Vis Sci. 2001 Feb;42(2):506-13. Invest Ophthalmol Vis Sci. 2001. PMID: 11157890

10

Further support for digenic inheritance in Bardet-Biedl syndrome.

Fauser S, Munz M, Besch D. Fauser S, et al. J Med Genet. 2003 Aug;40(8):e104. doi: 10.1136/jmg.40.8.e104. J Med Genet. 2003. PMID: 12920096 Free PMC article. No abstract available.

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