Stingl K - Search Results

1

Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy.

Neumann MA, Grossmann D, Schimpf-Linzenbold S, Dayan D, Stingl K, Ben-Menachem R, Pines O, Massart F, Delcambre S, Ghelfi J, Bohler J, Strom T, Kessel A, Azem A, Schöls L, Grünewald A, Wissinger B, Krüger R. Neumann MA, et al. Among authors: stingl k. Sci Rep. 2020 Oct 7;10(1):16736. doi: 10.1038/s41598-020-73557-4. Sci Rep. 2020. PMID: 33028849 Free PMC article.

2

CDHR1 mutations in retinal dystrophies.

Stingl K, Mayer AK, Llavona P, Mulahasanovic L, Rudolph G, Jacobson SG, Zrenner E, Kohl S, Wissinger B, Weisschuh N. Stingl K, et al. Sci Rep. 2017 Aug 1;7(1):6992. doi: 10.1038/s41598-017-07117-8. Sci Rep. 2017. PMID: 28765526 Free PMC article.

3

Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year period.

Weisschuh N, Obermaier CD, Battke F, Bernd A, Kuehlewein L, Nasser F, Zobor D, Zrenner E, Weber E, Wissinger B, Biskup S, Stingl K, Kohl S. Weisschuh N, et al. Among authors: stingl k. Hum Mutat. 2020 Sep;41(9):1514-1527. doi: 10.1002/humu.24064. Epub 2020 Jun 29. Hum Mutat. 2020. PMID: 32531858

4

X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in RPGR.

Kortüm F, Kieninger S, Mazzola P, Kohl S, Wissinger B, Prokisch H, Stingl K, Weisschuh N. Kortüm F, et al. Among authors: stingl k. Int J Mol Sci. 2021 Jan 16;22(2):850. doi: 10.3390/ijms22020850. Int J Mol Sci. 2021. PMID: 33467000 Free PMC article.

5

Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants.

Weisschuh N, Mazzola P, Bertrand M, Haack TB, Wissinger B, Kohl S, Stingl K. Weisschuh N, et al. Among authors: stingl k. Int J Mol Sci. 2021 May 20;22(10):5396. doi: 10.3390/ijms22105396. Int J Mol Sci. 2021. PMID: 34065499 Free PMC article.

6

Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies.

Nowomiejska K, Nasser F, Stingl K, Schimpf-Linzenbold S, Biskup S, Brzozowska A, Rejdak R, Kohl S, Zrenner E. Nowomiejska K, et al. Among authors: stingl k. Acta Ophthalmol. 2022 May;100(3):e847-e858. doi: 10.1111/aos.14958. Epub 2021 Jul 29. Acta Ophthalmol. 2022. PMID: 34327816 Free PMC article.

7

Oscillatory Potentials in Achromatopsia as a Tool for Understanding Cone Retinal Functions.

Righetti G, Kempf M, Braun C, Jung R, Kohl S, Wissinger B, Zrenner E, Stingl K, Stingl K. Righetti G, et al. Among authors: stingl k. Int J Mol Sci. 2021 Nov 24;22(23):12717. doi: 10.3390/ijms222312717. Int J Mol Sci. 2021. PMID: 34884517 Free PMC article.

8

Central Visual Function and Genotype-Phenotype Correlations in PDE6A-Associated Retinitis Pigmentosa.

Kuehlewein L, Straßer T, Blumenstock G, Stingl K, Fischer MD, Wilhelm B, Zrenner E, Wissinger B, Kohl S, Weisschuh N, Zobor D; RD-CURE Consortium. Kuehlewein L, et al. Among authors: stingl k. Invest Ophthalmol Vis Sci. 2022 May 2;63(5):9. doi: 10.1167/iovs.63.5.9. Invest Ophthalmol Vis Sci. 2022. PMID: 35533076 Free PMC article.

9

Effective splicing restoration of a deep-intronic ABCA4 variant in cone photoreceptor precursor cells by CRISPR/SpCas9 approaches.

De Angeli P, Reuter P, Hauser S, Schöls L, Stingl K, Wissinger B, Kohl S. De Angeli P, et al. Among authors: stingl k. Mol Ther Nucleic Acids. 2022 Jul 31;29:511-524. doi: 10.1016/j.omtn.2022.07.023. eCollection 2022 Sep 13. Mol Ther Nucleic Acids. 2022. PMID: 35991315 Free PMC article.

10

Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia.

Weisschuh N, Stingl K, Audo I, Biskup S, Bocquet B, Branham K, Burstedt MS, De Baere E, De Vries MJ, Golovleva I, Green A, Heckenlively J, Leroy BP, Meunier I, Traboulsi E, Wissinger B, Kohl S. Weisschuh N, et al. Among authors: stingl k. Hum Mutat. 2018 Oct;39(10):1366-1371. doi: 10.1002/humu.23606. Epub 2018 Aug 22. Hum Mutat. 2018. PMID: 30080950 Free article.

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