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Journal Abstract Search

181 related items for PubMed ID: 38206414

  • 1. Macular dystrophy in Kabuki syndrome due to de novo KMT2D variants: refining the phenotype with multimodal imaging and follow-up over 10 years: insight into pathophysiology.
    Vaclavik V, Navarro A, Jacot-Guillarmod A, Bottani A, Sun YJ, Franco JA, Mahajan VB, Smirnov V, Bouvet-Drumare I.
    Graefes Arch Clin Exp Ophthalmol; 2024 Jun; 262(6):1737-1744. PubMed ID: 38206414
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  • 5. Multimodal imaging of benign yellow dot maculopathy.
    Murro V, Mucciolo DP, Giorgio D, Sodi A, Passerini I, Pacini B, Finocchio L, Virgili G, Rizzo S.
    Ophthalmic Genet; 2019 Apr; 40(2):135-140. PubMed ID: 30942106
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  • 7. Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome.
    Baldridge D, Spillmann RC, Wegner DJ, Wambach JA, White FV, Sisco K, Toler TL, Dickson PI, Cole FS, Shashi V, Grange DK.
    Am J Med Genet A; 2020 May; 182(5):1053-1065. PubMed ID: 32083401
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  • 9. Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy.
    Khan KN, Kasilian M, Mahroo OAR, Tanna P, Kalitzeos A, Robson AG, Tsunoda K, Iwata T, Moore AT, Fujinami K, Michaelides M.
    Ophthalmology; 2018 May; 125(5):735-746. PubMed ID: 29310964
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  • 11. 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
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  • 12. Structural-functional correlation using adaptive optics, visual fields, optical coherence tomography and multifocal electroretinogram in a case of torpedo maculopathy.
    Venkatesh R, Yadav NK, Sinha S, Mehta R, Akkali MC.
    Indian J Ophthalmol; 2019 Sep; 67(9):1502-1505. PubMed ID: 31436216
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  • 13. Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy.
    Hull S, Arno G, Robson AG, Broadgate S, Plagnol V, McKibbin M, Halford S, Michaelides M, Holder GE, Moore AT, Khan KN, Webster AR.
    JAMA Ophthalmol; 2016 Sep 01; 134(9):992-1000. PubMed ID: 27386845
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  • 14. Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.
    Long A, Sinkovskaya ES, Edmondson AC, Zackai E, Schrier Vergano SA.
    Am J Med Genet A; 2016 Dec 01; 170(12):3333-3337. PubMed ID: 27568880
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  • 17. Retinal Morphology in Sjögren-Larsson Syndrome on OCT: From Metabolic Crystalline Maculopathy to Early-Onset Macular Degeneration.
    Staps P, Cruysberg JRM, Roeleveld N, Willemsen MAAP, Theelen T.
    Ophthalmol Retina; 2019 Jun 01; 3(6):500-509. PubMed ID: 31174672
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  • 20. Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review.
    Xin C, Wang C, Wang Y, Zhao J, Wang L, Li R, Liu J.
    BMC Med Genet; 2018 Feb 27; 19(1):31. PubMed ID: 29482518
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