BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

117 related articles for article (PubMed ID: 29176531)

  • 1. AUTOIMMUNE RETINOPATHY IN A PATIENT WITH A MISSENSE MUTATION IN PITPNM3.
    Bakhoum MF; Sengillo JD; Cui X; Tsang SH
    Retin Cases Brief Rep; 2018 Fall; 12 Suppl 1(Suppl 1):S72-S75. PubMed ID: 29176531
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A MIDDLE-AGED PATIENT WITH BILATERAL VISION LOSS AND NYCTALOPIA.
    Romero-Morales VA; Peiris TJ; Somisetty S; Santina A; Lu A; Sarraf D
    Retin Cases Brief Rep; 2023 Jun; 17(4S):S19-S22. PubMed ID: 36007183
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Presumed autoimmune retinopathy following chickenpox; a case report.
    Prime Z; Sims J; Danesh-Meyer H
    Int Ophthalmol; 2018 Oct; 38(5):2187-2190. PubMed ID: 28825165
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Ocular phenotype of CORD5, an autosomal dominant retinal dystrophy associated with PITPNM3 p.Q626H mutation.
    Reinis A; Golovleva I; Köhn L; Sandgren O
    Acta Ophthalmol; 2013 May; 91(3):259-66. PubMed ID: 22405330
    [TBL] [Abstract][Full Text] [Related]  

  • 5. NONPARANEOPLASTIC AUTOIMMUNE RETINOPATHY VERSUS PERICENTRAL RETINAL DEGENERATION PHENOTYPE: WHICH CAME FIRST? A CASE REPORT.
    Garcia CM; Maleki A; Look-Why S; Manhapra A; Durrani K; Foster CS
    Retin Cases Brief Rep; 2023 Jul; 17(4):384-388. PubMed ID: 34618714
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families.
    Köhn L; Kadzhaev K; Burstedt MS; Haraldsson S; Hallberg B; Sandgren O; Golovleva I
    Eur J Hum Genet; 2007 Jun; 15(6):664-71. PubMed ID: 17377520
    [TBL] [Abstract][Full Text] [Related]  

  • 7. PITPNM3 is an uncommon cause of cone and cone-rod dystrophies.
    Köhn L; Kohl S; Bowne SJ; Sullivan LS; Kellner U; Daiger SP; Sandgren O; Golovleva I
    Ophthalmic Genet; 2010 Sep; 31(3):139-40. PubMed ID: 20590364
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Non-Paraneoplastic Autoimmune Retinopathy: The First Case Report in Korea.
    Choi EY; Kim M; Adamus G; Koh HJ; Lee SC
    Yonsei Med J; 2016 Mar; 57(2):527-31. PubMed ID: 26847311
    [TBL] [Abstract][Full Text] [Related]  

  • 9. CENTRAL ELLIPSOID LOSS ASSOCIATED WITH CONE DYSTROPHY AND KCNV2 MUTATION.
    Xu D; Su D; Nusinowitz S; Sarraf D
    Retin Cases Brief Rep; 2018 Fall; 12 Suppl 1():S59-S62. PubMed ID: 29210963
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Phenotypic findings in C1QTNF5 retinopathy (late-onset retinal degeneration).
    Soumplis V; Sergouniotis PI; Robson AG; Michaelides M; Moore AT; Holder GE; Webster AR
    Acta Ophthalmol; 2013 May; 91(3):e191-5. PubMed ID: 23289492
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Retinal degeneration in autoimmune polyglandular syndrome type 1: a case series.
    Bourgault S; Baril C; Vincent A; Héon E; Ali A; MacDonald I; Lueder GT; Colleaux KM; Laliberté I
    Br J Ophthalmol; 2015 Nov; 99(11):1536-42. PubMed ID: 25926518
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. NOVEL CONE DYSTROPHY WITH CENTRAL ELLIPSOID ZONE LOSS ASSOCIATED WITH HUMAN RETINAL FASCIN GENE (FSCN2) MUTATION.
    Gui W; Nusinowitz S; Sarraf D
    Retin Cases Brief Rep; 2018 Fall; 12 Suppl 1():S63-S66. PubMed ID: 29016529
    [TBL] [Abstract][Full Text] [Related]  

  • 14. PANRETINAL DEGENERATION ASSOCIATED WITH LONG-TERM HYDROXYCHLOROQUINE USE AND HETEROZYGOUS USH2A MUTATION.
    Katsman D; Sanfilippo C; Sarraf D
    Retin Cases Brief Rep; 2017 Winter; 11 Suppl 1():S77-S80. PubMed ID: 27632587
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families.
    Köhn L; Kadzhaev K; Burstedt MS; Haraldsson S; Sandgren O; Golovleva I
    Adv Exp Med Biol; 2008; 613():229-34. PubMed ID: 18188949
    [No Abstract]   [Full Text] [Related]  

  • 16. ACUTE ZONAL OCCULT OUTER RETINOPATHY: Structural and Functional Analysis Across the Transition Zone Between Healthy and Diseased Retina.
    Duncker T; Lee W; Jiang F; Ramachandran R; Hood DC; Tsang SH; Sparrow JR; Greenstein VC
    Retina; 2018 Jan; 38(1):118-127. PubMed ID: 28590963
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy.
    Michaelides M; Wilkie SE; Jenkins S; Holder GE; Hunt DM; Moore AT; Webster AR
    Ophthalmology; 2005 Aug; 112(8):1442-7. PubMed ID: 15953638
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame.
    Paunescu K; Preising MN; Janke B; Wissinger B; Lorenz B
    Ophthalmology; 2007 Jul; 114(7):1348-1357.e1. PubMed ID: 17320181
    [TBL] [Abstract][Full Text] [Related]  

  • 19. SEROUS RETINOPATHY ASSOCIATED WITH CISPLATIN TREATMENT.
    Langevin S; Chang JS; Chang S
    Retin Cases Brief Rep; 2019 Summer; 13(3):211-214. PubMed ID: 28333855
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Nonparaneoplastic autoimmune retinopathy presenting with peripheral retinal vasoocclusion: case report.
    Lin CJ; Chen SN; Hwang JF; Tseng CC; Li KH
    Retin Cases Brief Rep; 2013; 7(1):41-5. PubMed ID: 25390519
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.