Kohl S - Search Results

1

Achromatopsia mutations target sequential steps of ATF6 activation.

Chiang WC, Chan P, Wissinger B, Vincent A, Skorczyk-Werner A, Krawczyński MR, Kaufman RJ, Tsang SH, Héon E, Kohl S, Lin JH. Chiang WC, et al. Among authors: kohl s. Proc Natl Acad Sci U S A. 2017 Jan 10;114(2):400-405. doi: 10.1073/pnas.1606387114. Epub 2016 Dec 27. Proc Natl Acad Sci U S A. 2017. PMID: 28028229 Free PMC article.

2

Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia.

Kohl S, Baumann B, Rosenberg T, Kellner U, Lorenz B, Vadalà M, Jacobson SG, Wissinger B. Kohl S, et al. Am J Hum Genet. 2002 Aug;71(2):422-5. doi: 10.1086/341835. Epub 2002 Jun 20. Am J Hum Genet. 2002. PMID: 12077706 Free PMC article.

3

Clinical features of achromatopsia in Swedish patients with defined genotypes.

Eksandh L, Kohl S, Wissinger B. Eksandh L, et al. Among authors: kohl s. Ophthalmic Genet. 2002 Jun;23(2):109-20. doi: 10.1076/opge.23.2.109.2210. Ophthalmic Genet. 2002. PMID: 12187429

4

Molecular basis of an inherited form of incomplete achromatopsia.

Tränkner D, Jägle H, Kohl S, Apfelstedt-Sylla E, Sharpe LT, Kaupp UB, Zrenner E, Seifert R, Wissinger B. Tränkner D, et al. Among authors: kohl s. J Neurosci. 2004 Jan 7;24(1):138-47. doi: 10.1523/JNEUROSCI.3883-03.2004. J Neurosci. 2004. PMID: 14715947 Free PMC article.

5

Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene cluster.

Kellner U, Wissinger B, Tippmann S, Kohl S, Kraus H, Foerster MH. Kellner U, et al. Among authors: kohl s. Graefes Arch Clin Exp Ophthalmol. 2004 Sep;242(9):729-35. doi: 10.1007/s00417-004-0921-z. Graefes Arch Clin Exp Ophthalmol. 2004. PMID: 15069569

6

Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations.

Rosenberg T, Baumann B, Kohl S, Zrenner E, Jorgensen AL, Wissinger B. Rosenberg T, et al. Among authors: kohl s. Invest Ophthalmol Vis Sci. 2004 Dec;45(12):4256-62. doi: 10.1167/iovs.04-0317. Invest Ophthalmol Vis Sci. 2004. PMID: 15557429

7

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. Eur J Hum Genet. 2005 Mar;13(3):302-8. doi: 10.1038/sj.ejhg.5201269. Eur J Hum Genet. 2005. PMID: 15657609

8

Clinical and genetic features of Hungarian achromatopsia patients.

Varsányi B, Wissinger B, Kohl S, Koeppen K, Farkas A. Varsányi B, et al. Among authors: kohl s. Mol Vis. 2005 Nov 17;11:996-1001. Mol Vis. 2005. PMID: 16319819 Free article.

9

CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function.

Khan NW, Wissinger B, Kohl S, Sieving PA. Khan NW, et al. Among authors: kohl s. Invest Ophthalmol Vis Sci. 2007 Aug;48(8):3864-71. doi: 10.1167/iovs.06-1521. Invest Ophthalmol Vis Sci. 2007. PMID: 17652762

10

Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.

Wissinger B, Dangel S, Jägle H, Hansen L, Baumann B, Rudolph G, Wolf C, Bonin M, Koeppen K, Ladewig T, Kohl S, Zrenner E, Rosenberg T. Wissinger B, et al. Among authors: kohl s. Invest Ophthalmol Vis Sci. 2008 Feb;49(2):751-7. doi: 10.1167/iovs.07-0471. Invest Ophthalmol Vis Sci. 2008. PMID: 18235024

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