134 related articles for article (PubMed ID: 36402981)
1. The possible pathogenesis of macular caldera in patients with North Carolina macular dystrophy.
Zhu Z; Zou H; Li C; Tong B; Zhang C; Xiao J
BMC Ophthalmol; 2022 Nov; 22(1):447. PubMed ID: 36402981
[TBL] [Abstract][Full Text] [Related]
2. North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the
Bowne SJ; Sullivan LS; Wheaton DK; Locke KG; Jones KD; Koboldt DC; Fulton RS; Wilson RK; Blanton SH; Birch DG; Daiger SP
Mol Vis; 2016; 22():1239-1247. PubMed ID: 27777503
[TBL] [Abstract][Full Text] [Related]
3. Multimodal Imaging and Functional Testing in a North Carolina Macular Disease Family: Toxoplasmosis, Fovea Plana, and Torpedo Maculopathy Are Phenocopies.
Small KW; Tran EM; Small L; Rao RC; Shaya F
Ophthalmol Retina; 2019 Jul; 3(7):607-614. PubMed ID: 31043363
[TBL] [Abstract][Full Text] [Related]
4. A novel duplication involving
Small KW; Van de Sompele S; Nuytemans K; Vincent A; Yuregir OO; Ciloglu E; Sariyildiz C; Rosseel T; Avetisjan J; Udar N; Vance JM; Pericak-Vance MA; De Baere E; Shaya FS
Mol Vis; 2021; 27():518-527. PubMed ID: 34526759
[TBL] [Abstract][Full Text] [Related]
5. North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.
Small KW; DeLuca AP; Whitmore SS; Rosenberg T; Silva-Garcia R; Udar N; Puech B; Garcia CA; Rice TA; Fishman GA; Héon E; Folk JC; Streb LM; Haas CM; Wiley LA; Scheetz TE; Fingert JH; Mullins RF; Tucker BA; Stone EM
Ophthalmology; 2016 Jan; 123(1):9-18. PubMed ID: 26507665
[TBL] [Abstract][Full Text] [Related]
6. North Carolina macular dystrophy shows a particular drusen phenotype and atrophy progression.
Birtel J; Gliem M; Herrmann P; Neuhaus C; Holz FG; MacLaren RE; Scholl HPN; Charbel Issa P
Br J Ophthalmol; 2022 Sep; 106(9):1269-1273. PubMed ID: 33785507
[TBL] [Abstract][Full Text] [Related]
7. North Carolina Macular Dystrophy: Long-term Follow-up of the Original Family.
Small KW; Wiggins R; Udar N; Silva-Garcia R; Avetisjan J; Vincent A; Shaya FS
Ophthalmol Retina; 2022 Jun; 6(6):512-519. PubMed ID: 35151913
[TBL] [Abstract][Full Text] [Related]
8. North Carolina Macular Dystrophy: Phenotypic Variability and Computational Analysis of Disease-Associated Noncoding Variants.
Green DJ; Lenassi E; Manning CS; McGaughey D; Sharma V; Black GC; Ellingford JM; Sergouniotis PI
Invest Ophthalmol Vis Sci; 2021 Jun; 62(7):16. PubMed ID: 34125159
[TBL] [Abstract][Full Text] [Related]
9. A novel tandem duplication of PRDM13 in a Chinese family with North Carolina macular dystrophy.
Wu S; Yuan Z; Sun Z; Zhu T; Wei X; Zou X; Sui R
Graefes Arch Clin Exp Ophthalmol; 2022 Feb; 260(2):645-653. PubMed ID: 34427740
[TBL] [Abstract][Full Text] [Related]
10. A unique
Namburi P; Khateb S; Meyer S; Bentovim T; Ratnapriya R; Khramushin A; Swaroop A; Schueler-Furman O; Banin E; Sharon D
Mol Vis; 2020; 26():299-310. PubMed ID: 32476814
[TBL] [Abstract][Full Text] [Related]
11. Clinical and genetic characterization of a Danish family with North Carolina macular dystrophy.
Rosenberg T; Roos B; Johnsen T; Bech N; Scheetz TE; Larsen M; Stone EM; Fingert JH
Mol Vis; 2010 Dec; 16():2659-68. PubMed ID: 21179233
[TBL] [Abstract][Full Text] [Related]
12. Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy.
Silva RS; Arno G; Cipriani V; Pontikos N; Defoort-Dhellemmes S; Kalhoro A; Carss KJ; Raymond FL; Dhaenens CM; Jensen H; Rosenberg T; van Heyningen V; Moore AT; Puech B; Webster AR
Hum Mutat; 2019 May; 40(5):578-587. PubMed ID: 30710461
[TBL] [Abstract][Full Text] [Related]
13. A reappraisal of the clinical spectrum of North Carolina macular dystrophy.
Khurana RN; Sun X; Pearson E; Yang Z; Harmon J; Goldberg MF; Zhang K
Ophthalmology; 2009 Oct; 116(10):1976-83. PubMed ID: 19616854
[TBL] [Abstract][Full Text] [Related]
14. Genetic linkage studies of a North Carolina macular dystrophy family.
Audere M; Rutka K; Inaskina I; Peculis R; Sepetiene S; Valeina S; Lāce B
Medicina (Kaunas); 2016; 52(3):180-6. PubMed ID: 27496188
[TBL] [Abstract][Full Text] [Related]
15. Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy.
Van de Sompele S; Small KW; Cicekdal MB; Soriano VL; D'haene E; Shaya FS; Agemy S; Van der Snickt T; Rey AD; Rosseel T; Van Heetvelde M; Vergult S; Balikova I; Bergen AA; Boon CJF; De Zaeytijd J; Inglehearn CF; Kousal B; Leroy BP; Rivolta C; Vaclavik V; van den Ende J; van Schooneveld MJ; Gómez-Skarmeta JL; Tena JJ; Martinez-Morales JR; Liskova P; Vleminckx K; De Baere E
Am J Hum Genet; 2022 Nov; 109(11):2029-2048. PubMed ID: 36243009
[TBL] [Abstract][Full Text] [Related]
16. Choroidal imaging in inherited retinal disease using the technique of enhanced depth imaging optical coherence tomography.
Yeoh J; Rahman W; Chen F; Hooper C; Patel P; Tufail A; Webster AR; Moore AT; Dacruz L
Graefes Arch Clin Exp Ophthalmol; 2010 Dec; 248(12):1719-28. PubMed ID: 20640437
[TBL] [Abstract][Full Text] [Related]
17. Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities.
Cipriani V; Kalhoro A; Arno G; Silva RS; Pontikos N; Puech V; McClements ME; Hunt DM; van Heyningen V; Michaelides M; Webster AR; Moore AT; Puech B
Ophthalmic Genet; 2017 Dec; 38(6):511-519. PubMed ID: 28635424
[TBL] [Abstract][Full Text] [Related]
18. Thirty-Year follow-up of an African American family with macular dystrophy of the retina, locus 1 (North Carolina macular dystrophy).
Kiernan DF; Shah RJ; Hariprasad SM; Grassi MA; Small KW; Kiernan JP; Mieler WF
Ophthalmology; 2011 Jul; 118(7):1435-43. PubMed ID: 21310494
[TBL] [Abstract][Full Text] [Related]
19. CHOROIDAL NEOVASCULARIZATION IN NORTH CAROLINA MACULAR DYSTROPHY RESPONSIVE TO ANTI-VASCULAR ENDOTHELIAL GROWTH FACTOR THERAPY.
Bakall B; Bryan JS; Stone EM; Small KW
Retin Cases Brief Rep; 2021 Sep; 15(5):509-513. PubMed ID: 30383557
[TBL] [Abstract][Full Text] [Related]
20. CONGENITAL POSTERIOR POLAR CHORIORETINAL HYPOPLASIA: Expansion of the Clinical Spectrum, Mutation, and Its Association With PRDM13.
Small KW; Tawfik CA; Udar N; Udar U; Avetisjan J; El-Aidy LA; Shaya FS
Retina; 2022 Dec; 42(12):2379-2387. PubMed ID: 36007168
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
