BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

126 related articles for article (PubMed ID: 35151913)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 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. Congenital toxoplasmosis as one phenocopy of North Carolina Macular Dystrophy (NCMD/MCDR1).
    Small KW; Vincent AL; Knapper CL; Shaya FS
    Am J Ophthalmol Case Rep; 2019 Sep; 15():100521. PubMed ID: 31367689
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 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. North Carolina macular dystrophy, revisited.
    Small KW
    Ophthalmology; 1989 Dec; 96(12):1747-54. PubMed ID: 2622620
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. Best Vitelliform Macular Dystrophy (BVMD) is a phenocopy of North Carolina Macular Dystrophy (NCMD/MCDR1).
    Small KW; Jampol LM; Bakall B; Small L; Wiggins R; Agemy S; Udar N; Avetisjan J; Vincent A; Shaya FS
    Ophthalmic Genet; 2021 Dec; ():1-11. PubMed ID: 34895015
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 7.