Publications by authors named "Simone Schaich"

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A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.
Susanne Kohl, Frauke Coppieters, Françoise Meire, Simone Schaich, Susanne Roosing

Am J Hum Genet· September 2012

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Genes and mutations in autosomal dominant cone and cone-rod dystrophy.
Susanne Kohl, Veronique Kitiratschky, Monika Papke, Simone Schaich, Alexandra Sauer

Adv Exp Med Biol· April 2012

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Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.
Bernd Wissinger, Simone Schaich, Britta Baumann, Michael Bonin, Herbert Jägle

Hum Mutat· December 2011

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A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16.
Valerio Carelli, Simone Schimpf, Nico Fuhrmann, Maria Lucia Valentino, Claudia Zanna, Simone Schaich

Hum Mol Genet· May 2011

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ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.
Veronique B D Kitiratschky, Tanja Grau, Antje Bernd, Eberhart Zrenner, Herbert Jägle, Simone Schaich

Eur J Hum Genet· July 2008

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Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons.
Simone Schimpf, Nico Fuhrmann, Simone Schaich, Bernd Wissinger

Hum Mutat· January 2008

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Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 gene.
Simone Schimpf, Simone Schaich, Bernd Wissinger

Hum Genet· February 2006

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