118 related articles for article (PubMed ID: 35887217)
21. Extending the Spectrum of EYS-Associated Retinal Disease to Macular Dystrophy.
Pierrache LHM; Messchaert M; Thiadens AAHJ; Haer-Wigman L; de Jong-Hesse Y; van Zelst-Stams WAG; Collin RWJ; Klaver CCW; van den Born LI
Invest Ophthalmol Vis Sci; 2019 May; 60(6):2049-2063. PubMed ID: 31074760
[TBL] [Abstract][Full Text] [Related]
22. Phenotype associated with mutation in the recently identified autosomal dominant retinitis pigmentosa KLHL7 gene.
Hugosson T; Friedman JS; Ponjavic V; Abrahamson M; Swaroop A; Andréasson S
Arch Ophthalmol; 2010 Jun; 128(6):772-8. PubMed ID: 20547956
[TBL] [Abstract][Full Text] [Related]
23. Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.
Jones KD; Wheaton DK; Bowne SJ; Sullivan LS; Birch DG; Chen R; Daiger SP
Mol Vis; 2017; 23():470-481. PubMed ID: 28761320
[TBL] [Abstract][Full Text] [Related]
24. Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort.
Sun Z; Yang L; Li H; Zou X; Wang L; Wu S; Zhu T; Wei X; Zhong Y; Sui R
Exp Eye Res; 2021 Jan; 202():108389. PubMed ID: 33301772
[TBL] [Abstract][Full Text] [Related]
25. Cone dystrophy or macular dystrophy associated with novel autosomal dominant
Manes G; Mamouni S; Hérald E; Richard AC; Sénéchal A; Aouad K; Bocquet B; Meunier I; Hamel CP
Mol Vis; 2017; 23():198-209. PubMed ID: 28442884
[TBL] [Abstract][Full Text] [Related]
26. A rare case of
Mermeklieva E; Kamenarova K; Mihova K; Shakola F; Kaneva R
Ophthalmic Genet; 2021 Dec; 42(6):747-752. PubMed ID: 34229535
[TBL] [Abstract][Full Text] [Related]
27. Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation.
Lines MA; Hébert M; McTaggart KE; Flynn SJ; Tennant MT; MacDonald IM
Ophthalmology; 2002 Oct; 109(10):1862-70. PubMed ID: 12359607
[TBL] [Abstract][Full Text] [Related]
28. An unusual retinal phenotype associated with a novel mutation in RHO.
Audo I; Friedrich A; Mohand-Saïd S; Lancelot ME; Antonio A; Moskova-Doumanova V; Poch O; Bhattacharya S; Sahel JA; Zeitz C
Arch Ophthalmol; 2010 Aug; 128(8):1036-45. PubMed ID: 20697005
[TBL] [Abstract][Full Text] [Related]
29. Autosomal dominant occult macular dystrophy with an RP1L1 mutation (R45W).
Hayashi T; Gekka T; Kozaki K; Ohkuma Y; Tanaka I; Yamada H; Tsuneoka H
Optom Vis Sci; 2012 May; 89(5):684-91. PubMed ID: 22504327
[TBL] [Abstract][Full Text] [Related]
30. Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.
Scheidecker S; Hull S; Perdomo Y; Studer F; Pelletier V; Muller J; Stoetzel C; Schaefer E; Defoort-Dhellemmes S; Drumare I; Holder GE; Hamel CP; Webster AR; Moore AT; Puech B; Dollfus HJ
Am J Ophthalmol; 2015 Aug; 160(2):364-372.e1. PubMed ID: 25982971
[TBL] [Abstract][Full Text] [Related]
31. Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.
Roosing S; van den Born LI; Hoyng CB; Thiadens AA; de Baere E; Collin RW; Koenekoop RK; Leroy BP; van Moll-Ramirez N; Venselaar H; Riemslag FC; Cremers FP; Klaver CC; den Hollander AI
Ophthalmology; 2013 Jun; 120(6):1239-46. PubMed ID: 23499059
[TBL] [Abstract][Full Text] [Related]
32. Identification of novel PROM1 mutations responsible for autosomal recessive maculopathy with rod-cone dystrophy.
Liang J; She X; Chen J; Zhai Y; Liu Y; Zheng K; Gong Y; Zhu H; Luo X; Sun X
Graefes Arch Clin Exp Ophthalmol; 2019 Mar; 257(3):619-628. PubMed ID: 30588538
[TBL] [Abstract][Full Text] [Related]
33. IMPG2-associated retinitis pigmentosa displays relatively early macular involvement.
van Huet RA; Collin RW; Siemiatkowska AM; Klaver CC; Hoyng CB; Simonelli F; Khan MI; Qamar R; Banin E; Cremers FP; Theelen T; den Hollander AI; van den Born LI; Klevering BJ
Invest Ophthalmol Vis Sci; 2014 May; 55(6):3939-53. PubMed ID: 24876279
[TBL] [Abstract][Full Text] [Related]
34. Phenotypic expression of autosomal dominant retinitis pigmentosa in a Swedish family expressing a Phe-211-Leu variant of peripherin/RDS.
Ekström U; Ponjavic V; Abrahamson M; Nilsson-Ehle P; Andrëasson S; Stenström I; Ehinger B
Ophthalmic Genet; 1998 Mar; 19(1):27-37. PubMed ID: 9587927
[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. Homozygosity for a Recessive Loss-of-Function Mutation of the NRL Gene Is Associated With a Variant of Enhanced S-Cone Syndrome.
Newman H; Blumen SC; Braverman I; Hanna R; Tiosano B; Perlman I; Ben-Yosef T
Invest Ophthalmol Vis Sci; 2016 Oct; 57(13):5361-5371. PubMed ID: 27732723
[TBL] [Abstract][Full Text] [Related]
37. Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7.
Wen Y; Locke KG; Klein M; Bowne SJ; Sullivan LS; Ray JW; Daiger SP; Birch DG; Hughbanks-Wheaton DK
Arch Ophthalmol; 2011 Nov; 129(11):1475-82. PubMed ID: 22084217
[TBL] [Abstract][Full Text] [Related]
38. PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT.
Khateb S; Mohand-Saïd S; Nassisi M; Bonnet C; Roux AF; Andrieu C; Antonio A; Condroyer C; Zeitz C; Devisme C; Loundon N; Marlin S; Petit C; Bodaghi B; Sahel JA; Audo I
Retina; 2020 Aug; 40(8):1603-1615. PubMed ID: 31479088
[TBL] [Abstract][Full Text] [Related]
39. Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants.
Kousal B; Dudakova L; Gaillyova R; Hejtmankova M; Diblik P; Michaelides M; Liskova P
Graefes Arch Clin Exp Ophthalmol; 2016 Sep; 254(9):1833-9. PubMed ID: 27113771
[TBL] [Abstract][Full Text] [Related]
40. Rod-Cone Dystrophy with Initially Preserved Visual Acuity Despite Early Macular Involvement Suggests Recessive CERKL Mutations.
Khan AO; Abu-Safieh L
Ophthalmic Genet; 2015; 36(4):369-72. PubMed ID: 24547929
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]