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CNGB1-related rod-cone dystrophy: A mutation review and update.
Nassisi M, Smirnov VM, Solis Hernandez C, Mohand-Saïd S, Condroyer C, Antonio A, Kühlewein L, Kempf M, Kohl S, Wissinger B, Nasser F, Ragi SD, Wang NK, Sparrow JR, Greenstein VC, Michalakis S, Mahroo OA, Ba-Abbad R, Michaelides M, Webster AR, Degli Esposti S, Saffren B, Capasso J, Levin A, Hauswirth WW, Dhaenens CM, Defoort-Dhellemmes S, Tsang SH, Zrenner E, Sahel JA, Petersen-Jones SM, Zeitz C, Audo I. Nassisi M, et al. Among authors: tsang sh. Hum Mutat. 2021 Jun;42(6):641-666. doi: 10.1002/humu.24205. Epub 2021 May 16. Hum Mutat. 2021. PMID: 33847019 Free PMC article. Review.
Functional rescue of degenerating photoreceptors in mice homozygous for a hypomorphic cGMP phosphodiesterase 6 b allele (Pde6bH620Q).
Davis RJ, Tosi J, Janisch KM, Kasanuki JM, Wang NK, Kong J, Tsui I, Cilluffo M, Woodruff ML, Fain GL, Lin CS, Tsang SH. Davis RJ, et al. Among authors: tsang sh. Invest Ophthalmol Vis Sci. 2008 Nov;49(11):5067-76. doi: 10.1167/iovs.07-1422. Epub 2008 Jul 24. Invest Ophthalmol Vis Sci. 2008. PMID: 18658088 Free PMC article.
Fundus autofluorescence in cone dystrophy.
Wang NK, Chou CL, Lima LH, Cella W, Tosi J, Yannuzzi LA, Tsang SH. Wang NK, et al. Among authors: tsang sh. Doc Ophthalmol. 2009 Oct;119(2):141-4. doi: 10.1007/s10633-009-9172-y. Epub 2009 Apr 2. Doc Ophthalmol. 2009. PMID: 19340470 Free PMC article.
563 results