Kohl S - Search Results

1

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.

Bauwens M, Garanto A, Sangermano R, Naessens S, Weisschuh N, De Zaeytijd J, Khan M, Sadler F, Balikova I, Van Cauwenbergh C, Rosseel T, Bauwens J, De Leeneer K, De Jaegere S, Van Laethem T, De Vries M, Carss K, Arno G, Fakin A, Webster AR, de Ravel de l'Argentière TJL, Sznajer Y, Vuylsteke M, Kohl S, Wissinger B, Cherry T, Collin RWJ, Cremers FPM, Leroy BP, De Baere E. Bauwens M, et al. Among authors: kohl s. Genet Med. 2019 Aug;21(8):1761-1771. doi: 10.1038/s41436-018-0420-y. Epub 2019 Jan 23. Genet Med. 2019. PMID: 30670881 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

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

6

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.

7

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.

8

Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy.

Wycisk KA, Zeitz C, Feil S, Wittmer M, Forster U, Neidhardt J, Wissinger B, Zrenner E, Wilke R, Kohl S, Berger W. Wycisk KA, et al. Among authors: kohl s. Am J Hum Genet. 2006 Nov;79(5):973-7. doi: 10.1086/508944. Epub 2006 Sep 27. Am J Hum Genet. 2006. PMID: 17033974 Free PMC 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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