178 related articles for article (PubMed ID: 24891813)
21. Electroretinography and optical coherence tomography reveal abnormal post-photoreceptoral activity and altered retinal lamination in patients with enhanced S-cone syndrome.
Sustar M; Perovšek D; Cima I; Stirn-Kranjc B; Hawlina M; Brecelj J
Doc Ophthalmol; 2015 Jun; 130(3):165-77. PubMed ID: 25663266
[TBL] [Abstract][Full Text] [Related]
22. Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.
Boon CJ; van den Born LI; Visser L; Keunen JE; Bergen AA; Booij JC; Riemslag FC; Florijn RJ; van Schooneveld MJ
Ophthalmology; 2013 Apr; 120(4):809-20. PubMed ID: 23290749
[TBL] [Abstract][Full Text] [Related]
23. Enhanced S-cone syndrome with preserved macular structure and severely depressed retinal function.
Cima I; Brecelj J; Sustar M; Coppieters F; Leroy BP; De Baere E; Hawlina M
Doc Ophthalmol; 2012 Oct; 125(2):161-8. PubMed ID: 22711506
[TBL] [Abstract][Full Text] [Related]
24. BESTROPHINOPATHY: A Spectrum of Ocular Abnormalities Caused by the c.614T>C Mutation in the BEST1 Gene.
Toto L; Boon CJ; Di Antonio L; Battaglia Parodi M; Mastropasqua R; Antonucci I; Stuppia L; Mastropasqua L
Retina; 2016 Aug; 36(8):1586-95. PubMed ID: 26716959
[TBL] [Abstract][Full Text] [Related]
25. Novel Pathogenic Sequence Variants in
Al-Khuzaei S; Broadgate S; Halford S; Jolly JK; Shanks M; Clouston P; Downes SM
Genes (Basel); 2020 Oct; 11(11):. PubMed ID: 33138239
[TBL] [Abstract][Full Text] [Related]
26. Expanded clinical spectrum of enhanced S-cone syndrome.
Yzer S; Barbazetto I; Allikmets R; van Schooneveld MJ; Bergen A; Tsang SH; Jacobson SG; Yannuzzi LA
JAMA Ophthalmol; 2013 Oct; 131(10):1324-30. PubMed ID: 23989059
[TBL] [Abstract][Full Text] [Related]
27. Molecular profiling of complete congenital stationary night blindness: a pilot study on an Indian cohort.
Malaichamy S; Sen P; Sachidanandam R; Arokiasamy T; Lancelot ME; Audo I; Zeitz C; Soumittra N
Mol Vis; 2014; 20():341-51. PubMed ID: 24715752
[TBL] [Abstract][Full Text] [Related]
28. In vivo analysis of onset and progression of retinal degeneration in the Nr2e3
Venturini G; Kokona D; Steiner BL; Bulla EG; Jovanovic J; Zinkernagel MS; Escher P
Sci Rep; 2021 Sep; 11(1):19032. PubMed ID: 34561487
[TBL] [Abstract][Full Text] [Related]
29. Spontaneous Resolution of Large Macular Retinoschisis in Enhanced S-Cone Syndrome.
Hayashi T; Gekka T; Tsuneoka H
Ophthalmic Surg Lasers Imaging Retina; 2016 Feb; 47(2):187-90. PubMed ID: 26878455
[TBL] [Abstract][Full Text] [Related]
30. Fundus Autofluorescence and SD-OCT Document Rapid Progression in Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Associated with a c.256G > A Mutation in BEST1.
Kellner S; Stöhr H; Fiebig B; Weinitz S; Farmand G; Kellner U; Weber BH
Ophthalmic Genet; 2016 Jun; 37(2):201-8. PubMed ID: 26771239
[TBL] [Abstract][Full Text] [Related]
31. Enhanced S-Cone Syndrome: Spectrum of Clinical, Imaging, Electrophysiologic, and Genetic Findings in a Retrospective Case Series of 56 Patients.
de Carvalho ER; Robson AG; Arno G; Boon CJF; Webster AA; Michaelides M
Ophthalmol Retina; 2021 Feb; 5(2):195-214. PubMed ID: 32679203
[TBL] [Abstract][Full Text] [Related]
32. Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation.
Kubota D; Gocho K; Akeo K; Kikuchi S; Sugahara M; Matsumoto CS; Shinoda K; Mizota A; Yamaki K; Takahashi H; Kameya S
Doc Ophthalmol; 2016 Jun; 132(3):233-43. PubMed ID: 27071392
[TBL] [Abstract][Full Text] [Related]
33. Correction of NR2E3 Associated Enhanced S-cone Syndrome Patient-specific iPSCs using CRISPR-Cas9.
Bohrer LR; Wiley LA; Burnight ER; Cooke JA; Giacalone JC; Anfinson KR; Andorf JL; Mullins RF; Stone EM; Tucker BA
Genes (Basel); 2019 Apr; 10(4):. PubMed ID: 30959774
[TBL] [Abstract][Full Text] [Related]
34. Ocular phenotype analysis of a family with biallelic mutations in the BEST1 gene.
Sharon D; Al-Hamdani S; Engelsberg K; Mizrahi-Meissonnier L; Obolensky A; Banin E; Sander B; Jensen H; Larsen M; Schatz P
Am J Ophthalmol; 2014 Mar; 157(3):697-709.e1-2. PubMed ID: 24345323
[TBL] [Abstract][Full Text] [Related]
35. Phenotypic Features of Oguchi Disease and Retinitis Pigmentosa in Patients with S-Antigen Mutations: A Long-Term Follow-up Study.
Nishiguchi KM; Ikeda Y; Fujita K; Kunikata H; Akiho M; Hashimoto K; Hosono K; Kurata K; Koyanagi Y; Akiyama M; Suzuki T; Kawasaki R; Wada Y; Hotta Y; Sonoda KH; Murakami A; Nakazawa M; Nakazawa T; Abe T
Ophthalmology; 2019 Nov; 126(11):1557-1566. PubMed ID: 31257036
[TBL] [Abstract][Full Text] [Related]
36. [Multimodal imaging in Goldmann-Favre syndrome].
Valler D; Ulbig M; Lohmann CP; Maier M
Ophthalmologe; 2018 Oct; 115(10):878-882. PubMed ID: 29234872
[TBL] [Abstract][Full Text] [Related]
37. Identification of a novel mutation in the CDHR1 gene in a family with recessive retinal degeneration.
Duncan JL; Roorda A; Navani M; Vishweswaraiah S; Syed R; Soudry S; Ratnam K; Gudiseva HV; Lee P; Gaasterland T; Ayyagari R
Arch Ophthalmol; 2012 Oct; 130(10):1301-8. PubMed ID: 23044944
[TBL] [Abstract][Full Text] [Related]
38. A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy.
Lee CS; Jun I; Choi SI; Lee JH; Lee MG; Lee SC; Kim EK
Invest Ophthalmol Vis Sci; 2015 Dec; 56(13):8141-50. PubMed ID: 26720466
[TBL] [Abstract][Full Text] [Related]
39. Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa.
Kannabiran C; Singh H; Sahini N; Jalali S; Mohan G
Mol Vis; 2012; 18():1165-74. PubMed ID: 22605927
[TBL] [Abstract][Full Text] [Related]
40. An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome.
Chavala SH; Sari A; Lewis H; Pauer GJ; Simpson E; Hagstrom SA; Traboulsi EI
Br J Ophthalmol; 2005 Aug; 89(8):1065-6. PubMed ID: 16024868
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]