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Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.
Wissinger B, Schaich S, Baumann B, Bonin M, Jägle H, Friedburg C, Varsányi B, Hoyng CB, Dollfus H, Heckenlively JR, Rosenberg T, Rudolph G, Kellner U, Salati R, Plomp A, De Baere E, Andrassi-Darida M, Sauer A, Wolf C, Zobor D, Bernd A, Leroy BP, Enyedi P, Cremers FP, Lorenz B, Zrenner E, Kohl S. Wissinger B, et al. Hum Mutat. 2011 Dec;32(12):1398-406. doi: 10.1002/humu.21580. Epub 2011 Sep 12. Hum Mutat. 2011. PMID: 21882291 Free article.
[10 years of screening for retinopathy of prematurity (2009-2019) : Results analysis of two German level-1 neonatal intensive care units (NICUs) with university on-site screening and a telemedical approach in the non-university NICU].
Busik V, Lorenz B, Mais C, Jäger M, Friedburg C, Andrassi-Darida M, Ehrhardt H, Hubert M. Busik V, et al. Among authors: andrassi darida m. Ophthalmologie. 2023 Sep;120(9):920-931. doi: 10.1007/s00347-023-01847-z. Epub 2023 Apr 21. Ophthalmologie. 2023. PMID: 37083751 German.
15 results