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566 results

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Page 1
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy.
Wissinger B, Baumann B, Buena-Atienza E, Ravesh Z, Cideciyan AV, Stingl K, Audo I, Meunier I, Bocquet B, Traboulsi EI, Hardcastle AJ, Gardner JC, Michaelides M, Branham KE, Rosenberg T, Andreasson S, Dollfus H, Birch D, Vincent AL, Martorell L, Català Mora J, Kellner U, Rüther K, Lorenz B, Preising MN, Manfredini E, Zarate YA, Vijzelaar R, Zrenner E, Jacobson SG, Kohl S. Wissinger B, et al. Among authors: zrenner e. Proc Natl Acad Sci U S A. 2022 Jul 5;119(27):e2115538119. doi: 10.1073/pnas.2115538119. Epub 2022 Jun 27. Proc Natl Acad Sci U S A. 2022. PMID: 35759666 Free PMC article.
Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia.
Grau T, Artemyev NO, Rosenberg T, Dollfus H, Haugen OH, Cumhur Sener E, Jurklies B, Andreasson S, Kernstock C, Larsen M, Zrenner E, Wissinger B, Kohl S. Grau T, et al. Among authors: zrenner e. Hum Mol Genet. 2011 Feb 15;20(4):719-30. doi: 10.1093/hmg/ddq517. Epub 2010 Dec 1. Hum Mol Genet. 2011. PMID: 21127010 Free PMC article.
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
Kohl S, Varsanyi B, Antunes GA, Baumann B, Hoyng CB, Jägle H, Rosenberg T, Kellner U, Lorenz B, Salati R, Jurklies B, Farkas A, Andreasson S, Weleber RG, Jacobson SG, Rudolph G, Castellan C, Dollfus H, Legius E, Anastasi M, Bitoun P, Lev D, Sieving PA, Munier FL, Zrenner E, Sharpe LT, Cremers FP, Wissinger B. Kohl S, et al. Among authors: zrenner e. Eur J Hum Genet. 2005 Mar;13(3):302-8. doi: 10.1038/sj.ejhg.5201269. Eur J Hum Genet. 2005. PMID: 15657609
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: zrenner e. 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.
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: zrenner e. Hum Mutat. 2011 Dec;32(12):1398-406. doi: 10.1002/humu.21580. Epub 2011 Sep 12. Hum Mutat. 2011. PMID: 21882291 Free article.
Rod and cone function in patients with KCNV2 retinopathy.
Zobor D, Kohl S, Wissinger B, Zrenner E, Jägle H. Zobor D, et al. Among authors: zrenner e. PLoS One. 2012;7(10):e46762. doi: 10.1371/journal.pone.0046762. Epub 2012 Oct 15. PLoS One. 2012. PMID: 23077521 Free PMC article.
CDHR1 mutations in retinal dystrophies.
Stingl K, Mayer AK, Llavona P, Mulahasanovic L, Rudolph G, Jacobson SG, Zrenner E, Kohl S, Wissinger B, Weisschuh N. Stingl K, et al. Among authors: zrenner e. Sci Rep. 2017 Aug 1;7(1):6992. doi: 10.1038/s41598-017-07117-8. Sci Rep. 2017. PMID: 28765526 Free PMC article.
566 results