Kohl S - Search Results

1

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy.

Buena-Atienza E, Rüther K, Baumann B, Bergholz R, Birch D, De Baere E, Dollfus H, Greally MT, Gustavsson P, Hamel CP, Heckenlively JR, Leroy BP, Plomp AS, Pott JW, Rose K, Rosenberg T, Stark Z, Verheij JB, Weleber R, Zobor D, Weisschuh N, Kohl S, Wissinger B. Buena-Atienza E, et al. Among authors: kohl s. Sci Rep. 2016 Jun 24;6:28253. doi: 10.1038/srep28253. Sci Rep. 2016. PMID: 27339364 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

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

5

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

6

Morphology and functional characteristics in adult vitelliform macular dystrophy.

Renner AB, Tillack H, Kraus H, Kohl S, Wissinger B, Mohr N, Weber BH, Kellner U, Foerster MH. Renner AB, et al. Among authors: kohl s. Retina. 2004 Dec;24(6):929-39. doi: 10.1097/00006982-200412000-00014. Retina. 2004. PMID: 15579992

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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