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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: levin a. 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.
Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach.
Petersen-Jones SM, Occelli LM, Winkler PA, Lee W, Sparrow JR, Tsukikawa M, Boye SL, Chiodo V, Capasso JE, Becirovic E, Schön C, Seeliger MW, Levin AV, Michalakis S, Hauswirth WW, Tsang SH. Petersen-Jones SM, et al. Among authors: levin av. J Clin Invest. 2018 Jan 2;128(1):190-206. doi: 10.1172/JCI95161. Epub 2017 Nov 20. J Clin Invest. 2018. PMID: 29202463 Free PMC article.
Ocular manifestations of Emanuel syndrome.
Saffren BD, Capasso JE, Zanolli M, Levin AV. Saffren BD, et al. Am J Med Genet A. 2018 Sep;176(9):1964-1967. doi: 10.1002/ajmg.a.40361. Epub 2018 Sep 4. Am J Med Genet A. 2018. PMID: 30178914
Lyonization in ophthalmology.
Wuthisiri W, Lingao MD, Capasso JE, Levin AV. Wuthisiri W, et al. Curr Opin Ophthalmol. 2013 Sep;24(5):389-97. doi: 10.1097/ICU.0b013e3283641f91. Curr Opin Ophthalmol. 2013. PMID: 23892913 Review.
Genetics for the ophthalmologist.
Sadagopan KA, Capasso J, Levin AV. Sadagopan KA, et al. Among authors: levin av. Oman J Ophthalmol. 2012 Sep;5(3):144-9. doi: 10.4103/0974-620X.106092. Oman J Ophthalmol. 2012. PMID: 23439654 Free PMC article.
2,939 results