118 related articles for article (PubMed ID: 36067420)
21. Clinical characteristics, imaging findings, and genetic results of a patient with
Vilaplana F; Ros A; Garcia B; Blanco I; Castellanos E; Edwards NJ; Valldeperas X; Ruiz-Bilbao S; Sabala A
Ophthalmic Genet; 2021 Aug; 42(4):474-479. PubMed ID: 33886416
[TBL] [Abstract][Full Text] [Related]
22. Enhanced S-cone syndrome: Clinical spectrum in Indian population.
Naik A; Ratra D; Banerjee A; Dalan D; Jandyal S; Rao G; Sen P; Bhende M; Jayaprakash V; Susvar P; Walinjkar J; Rao C
Indian J Ophthalmol; 2019 Apr; 67(4):523-529. PubMed ID: 30900587
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene.
Nasser F; Weisschuh N; Maffei P; Milan G; Heller C; Zrenner E; Kohl S; Kuehlewein L
Acta Ophthalmol; 2018 Jun; 96(4):e445-e454. PubMed ID: 29193673
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. Clinical characteristics of recessive retinal degeneration due to mutations in the CDHR1 gene and a review of the literature.
Bessette AP; DeBenedictis MJ; Traboulsi EI
Ophthalmic Genet; 2018; 39(1):51-55. PubMed ID: 28885867
[TBL] [Abstract][Full Text] [Related]
27. Enhanced S-Cone Syndrome and Macular Hole.
Arevalo JF; Kozak I
JAMA Ophthalmol; 2015 Jun; 133(6):e15108. PubMed ID: 26067693
[No Abstract] [Full Text] [Related]
28. AUTOSOMAL DOMINANT VITREORETINOCHOROIDOPATHY: When Molecular Genetic Testing Helps Clinical Diagnosis.
Boulanger-Scemama E; Sahel JA; Mohand-Said S; Antonio A; Condroyer C; Zeitz C; Audo I
Retina; 2019 May; 39(5):867-878. PubMed ID: 29370033
[TBL] [Abstract][Full Text] [Related]
29. Retinal detachment in a pediatric patient with enhanced S-cone syndrome.
Dass S; Scoles D; Trese MGJ; Drenser KA
J AAPOS; 2023 Aug; 27(4):229-231. PubMed ID: 37355011
[TBL] [Abstract][Full Text] [Related]
30. Differential dimerization of variants linked to enhanced S-cone sensitivity syndrome (ESCS) located in the NR2E3 ligand-binding domain.
von Alpen D; Tran HV; Guex N; Venturini G; Munier FL; Schorderet DF; Haider NB; Escher P
Hum Mutat; 2015 Jun; 36(6):599-610. PubMed ID: 25703721
[TBL] [Abstract][Full Text] [Related]
31. Ophthalmological phenotype associated with homozygous null mutation in the NEUROD1 gene.
Orosz O; Czeglédi M; Kántor I; Balogh I; Vajas A; Takács L; Berta A; Losonczy G
Mol Vis; 2015; 21():124-30. PubMed ID: 25684977
[TBL] [Abstract][Full Text] [Related]
32. A novel mutation in the NR2E3 gene associated with Goldmann-Favre syndrome and vasoproliferative tumor of the retina.
Manayath GJ; Namburi P; Periasamy S; Kale JA; Narendran V; Ganesh A
Mol Vis; 2014; 20():724-31. PubMed ID: 24891813
[TBL] [Abstract][Full Text] [Related]
33. Peculiar fundus abnormalities and pathognomonic electrophysiological findings in a 14-month-old boy with NR2E3 mutations.
Cassiman C; Spileers W; De Baere E; de Ravel T; Casteels I
Ophthalmic Genet; 2013; 34(1-2):105-8. PubMed ID: 23039133
[TBL] [Abstract][Full Text] [Related]
34. NPHP1 FULL DELETION CAUSES NEPHRONOPHTHISIS AND A CONE-ROD DYSTROPHY.
Tauqeer Z; O'Neil EC; Brucker AJ; Aleman TS
Retin Cases Brief Rep; 2023 Jul; 17(4):352-358. PubMed ID: 36913617
[TBL] [Abstract][Full Text] [Related]
35. Retinal findings in a patient of French ancestry with CABP4-related retinal disease.
Smirnov VM; Zeitz C; Soumittra N; Audo I; Defoort-Dhellemmes S
Doc Ophthalmol; 2018 Apr; 136(2):135-143. PubMed ID: 29525873
[TBL] [Abstract][Full Text] [Related]
36. Pigmented paravenous retinochoroidal atrophy: a case report.
Shen Y; Xu X; Cao H
BMC Ophthalmol; 2018 Jun; 18(1):136. PubMed ID: 29880028
[TBL] [Abstract][Full Text] [Related]
37. Evolution of macular hole in enhanced S-cone syndrome.
Magliyah MS; AlSulaiman SM; Schatz P; Nowilaty SR
Doc Ophthalmol; 2021 Apr; 142(2):239-245. PubMed ID: 32815098
[TBL] [Abstract][Full Text] [Related]
38. Pigmented paravenous retinochoroidal atrophy.
Deshmukh S; Das D; Deka H; Bhattacharjee H; Upadhyay A; Gupta K
Indian J Ophthalmol; 2019 Feb; 67(2):271-273. PubMed ID: 30672488
[No Abstract] [Full Text] [Related]
39. Pigmented Paravenous Chorioretinal Atrophy: Clinical Spectrum and Multimodal Imaging Characteristics.
Lee EK; Lee SY; Oh BL; Yoon CK; Park UC; Yu HG
Am J Ophthalmol; 2021 Apr; 224():120-132. PubMed ID: 33340506
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]
