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Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons.
Hum Mutat. 2008 Jan;29(1):106-12. doi: 10.1002/humu.20607.
Hum Mutat. 2008.
PMID: 17722006
Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 gene.
Schimpf S, Schaich S, Wissinger B.
Schimpf S, et al. Among authors: schaich s.
Hum Genet. 2006 Feb;118(6):767-71. doi: 10.1007/s00439-005-0096-7. Epub 2005 Dec 2.
Hum Genet. 2006.
PMID: 16323009
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A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16.
Carelli V, Schimpf S, Fuhrmann N, Valentino ML, Zanna C, Iommarini L, Papke M, Schaich S, Tippmann S, Baumann B, Barboni P, Longanesi L, Rugolo M, Ghelli A, Alavi MV, Youle RJ, Bucchi L, Carroccia R, Giannoccaro MP, Tonon C, Lodi R, Cenacchi G, Montagna P, Liguori R, Wissinger B.
Carelli V, et al. Among authors: schaich s.
Hum Mol Genet. 2011 May 15;20(10):1893-905. doi: 10.1093/hmg/ddr071. Epub 2011 Feb 24.
Hum Mol Genet. 2011.
PMID: 21349918
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Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.
Wissinger B, Schaich S, Baumann B, Bonin M, Jägle H, Friedburg C, Varsányi B, Hoyng CB, Dollfus H, Heckenlively JR, Rosenberg T, Rudolph G, Kellner U, Salati R, Plomp A, De Baere E, Andrassi-Darida M, Sauer A, Wolf C, Zobor D, Bernd A, Leroy BP, Enyedi P, Cremers FP, Lorenz B, Zrenner E, Kohl S.
Wissinger B, et al. Among authors: schaich s.
Hum Mutat. 2011 Dec;32(12):1398-406. doi: 10.1002/humu.21580. Epub 2011 Sep 12.
Hum Mutat. 2011.
PMID: 21882291
Free article.
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A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.
Kohl S, Coppieters F, Meire F, Schaich S, Roosing S, Brennenstuhl C, Bolz S, van Genderen MM, Riemslag FC; European Retinal Disease Consortium; Lukowski R, den Hollander AI, Cremers FP, De Baere E, Hoyng CB, Wissinger B.
Kohl S, et al. Among authors: schaich s.
Am J Hum Genet. 2012 Sep 7;91(3):527-32. doi: 10.1016/j.ajhg.2012.07.006. Epub 2012 Aug 16.
Am J Hum Genet. 2012.
PMID: 22901948
Free PMC article.
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Genes and mutations in autosomal dominant cone and cone-rod dystrophy.
Kohl S, Kitiratschky V, Papke M, Schaich S, Sauer A, Wissinger B.
Kohl S, et al. Among authors: schaich s.
Adv Exp Med Biol. 2012;723:337-43. doi: 10.1007/978-1-4614-0631-0_44.
Adv Exp Med Biol. 2012.
PMID: 22183351
No abstract available.
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ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.
Kitiratschky VB, Grau T, Bernd A, Zrenner E, Jägle H, Renner AB, Kellner U, Rudolph G, Jacobson SG, Cideciyan AV, Schaich S, Kohl S, Wissinger B.
Kitiratschky VB, et al. Among authors: schaich s.
Eur J Hum Genet. 2008 Jul;16(7):812-9. doi: 10.1038/ejhg.2008.23. Epub 2008 Feb 20.
Eur J Hum Genet. 2008.
PMID: 18285826
Free PMC article.
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