Kohl S - Search Results

1

Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.

Weisschuh N, Mazzola P, Zuleger T, Schaeferhoff K, Kühlewein L, Kortüm F, Witt D, Liebmann A, Falb R, Pohl L, Reith M, Stühn LG, Bertrand M, Müller A, Casadei N, Kelemen O, Kelbsch C, Kernstock C, Richter P, Sadler F, Demidov G, Schütz L, Admard J, Sturm M, Grasshoff U, Tonagel F, Heinrich T, Nasser F, Wissinger B, Ossowski S, Kohl S, Riess O, Stingl K, Haack TB. Weisschuh N, et al. Among authors: kohl s. J Med Genet. 2024 Jan 19;61(2):186-195. doi: 10.1136/jmg-2023-109470. J Med Genet. 2024. PMID: 37734845 Free PMC article.

2

Functional evaluation allows ACMG/AMP-based re-classification of CNGA3 variants associated with achromatopsia.

Solaki M, Wissinger B, Kohl S, Reuter P. Solaki M, et al. Among authors: kohl s. Genet Med. 2023 Dec;25(12):100979. doi: 10.1016/j.gim.2023.100979. Epub 2023 Sep 6. Genet Med. 2023. PMID: 37689994 Free article.

3

RDS/peripherin gene mutations are frequent causes of central retinal dystrophies.

Kohl S, Christ-Adler M, Apfelstedt-Sylla E, Kellner U, Eckstein A, Zrenner E, Wissinger B. Kohl S, et al. J Med Genet. 1997 Aug;34(8):620-6. doi: 10.1136/jmg.34.8.620. J Med Genet. 1997. PMID: 9279751 Free PMC article.

4

Retinal dystrophies with bull's-eye maculopathy along with negative ERGs.

Nasser F, Kurtenbach A, Kohl S, Obermaier C, Stingl K, Zrenner E. Nasser F, et al. Among authors: kohl s. Doc Ophthalmol. 2019 Aug;139(1):45-57. doi: 10.1007/s10633-019-09694-7. Epub 2019 Apr 3. Doc Ophthalmol. 2019. PMID: 30945053

5

A case of X-linked retinoschisis with atypical fundus appearance.

Nasser F, Kohl S, Kuehlewein L, Wissinger B, Obermaier CD, Kurtenbach A, Zrenner E. Nasser F, et al. Among authors: kohl s. Doc Ophthalmol. 2019 Aug;139(1):75-81. doi: 10.1007/s10633-019-09698-3. Epub 2019 Apr 20. Doc Ophthalmol. 2019. PMID: 31006083

6

Color Vision in Blue Cone Monochromacy: Outcome Measures for a Clinical Trial.

Mascio AA, Roman AJ, Cideciyan AV, Sheplock R, Wu V, Garafalo AV, Sumaroka A, Pirkle S, Kohl S, Wissinger B, Jacobson SG, Barbur JL. Mascio AA, et al. Among authors: kohl s. Transl Vis Sci Technol. 2023 Jan 3;12(1):25. doi: 10.1167/tvst.12.1.25. Transl Vis Sci Technol. 2023. PMID: 36692456 Free PMC article.

7

Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.

Kohl S, Marx T, Giddings I, Jägle H, Jacobson SG, Apfelstedt-Sylla E, Zrenner E, Sharpe LT, Wissinger B. Kohl S, et al. Nat Genet. 1998 Jul;19(3):257-9. doi: 10.1038/935. Nat Genet. 1998. PMID: 9662398

8

Cone and cone-rod dystrophy segregating in the same pedigree due to the same novel CRX gene mutation.

Kitiratschky VB, Nagy D, Zabel T, Zrenner E, Wissinger B, Kohl S, Jägle H. Kitiratschky VB, et al. Among authors: kohl s. Br J Ophthalmol. 2008 Aug;92(8):1086-91. doi: 10.1136/bjo.2007.133231. Br J Ophthalmol. 2008. PMID: 18653602

9

Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.

Kohl S, Baumann B, Broghammer M, Jägle H, Sieving P, Kellner U, Spegal R, Anastasi M, Zrenner E, Sharpe LT, Wissinger B. Kohl S, et al. Hum Mol Genet. 2000 Sep 1;9(14):2107-16. doi: 10.1093/hmg/9.14.2107. Hum Mol Genet. 2000. PMID: 10958649

10

[Molecular genetic findings in patients with congenital cone dysfunction. Mutations in the CNGA3, CNGB3, or GNAT2 genes].

Kellner U, Wissinger B, Kohl S, Kraus H, Foerster MH. Kellner U, et al. Among authors: kohl s. Ophthalmologe. 2004 Aug;101(8):830-5. doi: 10.1007/s00347-003-0976-y. Ophthalmologe. 2004. PMID: 15459792 Clinical Trial. German.

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