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congenital stationary night blindness 相关文献:
Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.
Zeitz C, Robson AG, Audo I.
Prog Retin Eye Res. 2015 Mar;45:58-110. doi: 10.1016/j.preteyeres.2014.09.001. Epub 2014 Oct 13.
PMID:25307992
Shedding light on myopia by studying complete congenital stationary night blindness.
Zeitz C, Roger JE, Audo I, Michiels C, Sánchez-Farías N, Varin J, Frederiksen H, Wilmet B, Callebert J, Gimenez ML, Bouzidi N, Blond F, Guilllonneau X, Fouquet S, Léveillard T, Smirnov V, Vincent A, Héon E, Sahel JA, Kloeckener-Gruissem B, Sennlaub F, Morgans CW, Duvoisin RM, Tkatchenko AV, Picaud S.
Prog Retin Eye Res. 2023 Mar;93:101155. doi: 10.1016/j.preteyeres.2022.101155. Epub 2023 Jan 19.
PMID:36669906
X-Linked Congenital Stationary Night Blindness.
MacDonald IM, Hoang S, Tuupanen S.
2008 Jan 16 [updated 2019 Jul 3]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:20301423
Congenital Stationary Night Blindness.
Tsang SH, Sharma T.
Adv Exp Med Biol. 2018;1085:61-64. doi: 10.1007/978-3-319-95046-4_13.
PMID:30578486
Congenital stationary night blindness: an update and review of the disease spectrum in Saudi Arabia.
Almutairi F, Almeshari N, Ahmad K, Magliyah MS, Schatz P.
Acta Ophthalmol. 2021 Sep;99(6):581-591. doi: 10.1111/aos.14693. Epub 2020 Dec 26.
PMID:33369259
Cav1.4 dysfunction and congenital stationary night blindness type 2.
Koschak A, Fernandez-Quintero ML, Heigl T, Ruzza M, Seitter H, Zanetti L.
Pflugers Arch. 2021 Sep;473(9):1437-1454. doi: 10.1007/s00424-021-02570-x. Epub 2021 Jul 1.
PMID:34212239
Congenital Stationary Night Blindness (CSNB)-Case Reports and Review of Current Knowledge.
Durajczyk M, Lubiński W.
J Clin Med. 2025 Feb 13;14(4):1238. doi: 10.3390/jcm14041238.
PMID:40004769
Congenital Stationary Night Blindness: Clinical and Genetic Features.
Kim AH, Liu PK, Chang YH, Kang EY, Wang HH, Chen N, Tseng YJ, Seo GH, Lee H, Liu L, Chao AN, Chen KJ, Hwang YS, Wu WC, Lai CC, Tsang SH, Hsiao MC, Wang NK.
Int J Mol Sci. 2022 Nov 29;23(23):14965. doi: 10.3390/ijms232314965.
PMID:36499293
Posterior staphyloma with congenital stationary night blindness.
Hemptinne C, Vilain C, Postolache L.
J Fr Ophtalmol. 2022 Mar;45(3):e167-e170. doi: 10.1016/j.jfo.2021.11.006. Epub 2022 Jan 29.
PMID:35101297
Congenital Stationary Night Blindness: Structure, Function and Genotype-Phenotype Correlations in a Cohort of 122 Patients.
Katta M, de Guimaraes TAC, Fujinami-Yokokawa Y, Fujinami K, Georgiou M, Mahroo OA, Webster AR, Michaelides M.
Ophthalmol Retina. 2024 Sep;8(9):932-941. doi: 10.1016/j.oret.2024.03.017. Epub 2024 Mar 24.
PMID:38522615
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