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Page 1
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: jurklies b. Eur J Hum Genet. 2005 Mar;13(3):302-8. doi: 10.1038/sj.ejhg.5201269. Eur J Hum Genet. 2005. PMID: 15657609
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: jurklies b. 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.
CNGA3 mutations in hereditary cone photoreceptor disorders.
Wissinger B, Gamer D, Jägle H, Giorda R, Marx T, Mayer S, Tippmann S, Broghammer M, Jurklies B, Rosenberg T, Jacobson SG, Sener EC, Tatlipinar S, Hoyng CB, Castellan C, Bitoun P, Andreasson S, Rudolph G, Kellner U, Lorenz B, Wolff G, Verellen-Dumoulin C, Schwartz M, Cremers FP, Apfelstedt-Sylla E, Zrenner E, Salati R, Sharpe LT, Kohl S. Wissinger B, et al. Among authors: jurklies b. Am J Hum Genet. 2001 Oct;69(4):722-37. doi: 10.1086/323613. Epub 2001 Aug 30. Am J Hum Genet. 2001. PMID: 11536077 Free PMC article.
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene.
Felden J, Baumann B, Ali M, Audo I, Ayuso C, Bocquet B, Casteels I, Garcia-Sandoval B, Jacobson SG, Jurklies B, Kellner U, Kessel L, Lorenz B, McKibbin M, Meunier I, de Ravel T, Rosenberg T, Rüther K, Vadala M, Wissinger B, Stingl K, Kohl S. Felden J, et al. Among authors: jurklies b. Hum Mutat. 2019 Aug;40(8):1145-1155. doi: 10.1002/humu.23768. Epub 2019 May 6. Hum Mutat. 2019. PMID: 31058429
A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.
Chang B, Grau T, Dangel S, Hurd R, Jurklies B, Sener EC, Andreasson S, Dollfus H, Baumann B, Bolz S, Artemyev N, Kohl S, Heckenlively J, Wissinger B. Chang B, et al. Among authors: jurklies b. Proc Natl Acad Sci U S A. 2009 Nov 17;106(46):19581-6. doi: 10.1073/pnas.0907720106. Epub 2009 Nov 3. Proc Natl Acad Sci U S A. 2009. PMID: 19887631 Free PMC article.
Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration.
Krämer F, White K, Pauleikhoff D, Gehrig A, Passmore L, Rivera A, Rudolph G, Kellner U, Andrassi M, Lorenz B, Rohrschneider K, Blankenagel A, Jurklies B, Schilling H, Schütt F, Holz FG, Weber BH. Krämer F, et al. Among authors: jurklies b. Eur J Hum Genet. 2000 Apr;8(4):286-92. doi: 10.1038/sj.ejhg.5200447. Eur J Hum Genet. 2000. PMID: 10854112
54 results