These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
271 related articles for article (PubMed ID: 26507665)
1. 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]
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. 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]
4. Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus. Cipriani V; Silva RS; Arno G; Pontikos N; Kalhoro A; Valeina S; Inashkina I; Audere M; Rutka K; Puech B; Michaelides M; van Heyningen V; Lace B; Webster AR; Moore AT Sci Rep; 2017 Aug; 7(1):7512. PubMed ID: 28790370 [TBL] [Abstract][Full Text] [Related]
5. 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]
6. A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype. Manes G; Joly W; Guignard T; Smirnov V; Berthemy S; Bocquet B; Audo I; Zeitz C; Sahel J; Cazevieille C; Sénéchal A; Deleuze JF; Blanché-Koch H; Boland A; Carroll P; Geneviève D; Zanlonghi X; Arndt C; Hamel CP; Defoort-Dhellemmes S; Meunier I Hum Mol Genet; 2017 Nov; 26(22):4367-4374. PubMed ID: 28973654 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
14. 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]
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. New Noncoding Base Pair Mutation at the Identical Locus as the Original NCMD/MCDR1 in a Mexican Family, Suggesting a Mutational Hotspot. Small KW; Van de Sompele S; Avetisjan J; Udar N; Agemy S; De Baere E; Shaya FS J Vitreoretin Dis; 2023; 7(1):33-42. PubMed ID: 37008391 [TBL] [Abstract][Full Text] [Related]
17. Two novel non-coding single nucleotide variants in the DNase1 hypersensitivity site of Seo Y; Joo K; Lee J; Diaz A; Jang S; Cherry TJ; Bujakowska KM; Han J; Woo SJ; Small KW Mol Vis; 2024; 30():58-66. PubMed ID: 38601016 [TBL] [Abstract][Full Text] [Related]
18. Phenotype of a British North Carolina macular dystrophy family linked to chromosome 6q. Reichel MB; Kelsell RE; Fan J; Gregory CY; Evans K; Moore AT; Hunt DM; Fitzke FW; Bird AC Br J Ophthalmol; 1998 Oct; 82(10):1162-8. PubMed ID: 9924305 [TBL] [Abstract][Full Text] [Related]
19. Dysregulation of Retinal Transcription Factor PRDM13 and North Carolina Macular Dystrophy. Weleber RG Ophthalmology; 2016 Jan; 123(1):2-4. PubMed ID: 26707433 [No 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]