Kohl S - Search Results

1

Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation.

Mayer AK, Rohrschneider K, Strom TM, Glöckle N, Kohl S, Wissinger B, Weisschuh N. Mayer AK, et al. Among authors: kohl s. Eur J Hum Genet. 2016 Mar;24(3):459-62. doi: 10.1038/ejhg.2015.144. Epub 2015 Jul 8. Eur J Hum Genet. 2016. PMID: 26153215 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

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

8

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

9

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.

10

Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness.

Zeitz C, Kloeckener-Gruissem B, Forster U, Kohl S, Magyar I, Wissinger B, Mátyás G, Borruat FX, Schorderet DF, Zrenner E, Munier FL, Berger W. Zeitz C, et al. Among authors: kohl s. Am J Hum Genet. 2006 Oct;79(4):657-67. doi: 10.1086/508067. Epub 2006 Aug 23. Am J Hum Genet. 2006. PMID: 16960802 Free PMC article.

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