BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

135 related articles for article (PubMed ID: 31900015)

  • 1. Macular maldevelopment in
    Ritter M; Arno G; Ba-Abbad R; Holder GE; Webster AR
    Ophthalmic Genet; 2019 Dec; 40(6):564-569. PubMed ID: 31900015
    [No Abstract]   [Full Text] [Related]  

  • 2. Characterization of Retinal Structure in ATF6-Associated Achromatopsia.
    Mastey RR; Georgiou M; Langlo CS; Kalitzeos A; Patterson EJ; Kane T; Singh N; Vincent A; Moore AT; Tsang SH; Lin JH; Young MP; Hartnett ME; Héon E; Kohl S; Michaelides M; Carroll J
    Invest Ophthalmol Vis Sci; 2019 Jun; 60(7):2631-2640. PubMed ID: 31237654
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel MFRP gene variant in a family with posterior microphthalmos, retinitis pigmentosa, foveoschisis, and foveal hypoplasia.
    Godinho G; Madeira C; Grangeia A; Neves-Cardoso P; Santos-Silva R; Brandão E; Carneiro Â; Falcão-Reis F; Estrela-Silva S
    Ophthalmic Genet; 2020 Oct; 41(5):474-479. PubMed ID: 32703043
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Retinal morphology of patients with achromatopsia during early childhood: implications for gene therapy.
    Yang P; Michaels KV; Courtney RJ; Wen Y; Greninger DA; Reznick L; Karr DJ; Wilson LB; Weleber RG; Pennesi ME
    JAMA Ophthalmol; 2014 Jul; 132(7):823-31. PubMed ID: 24676353
    [TBL] [Abstract][Full Text] [Related]  

  • 6. CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function.
    Khan NW; Wissinger B; Kohl S; Sieving PA
    Invest Ophthalmol Vis Sci; 2007 Aug; 48(8):3864-71. PubMed ID: 17652762
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel
    Wu S; Yu Y; Wang Y; Zhang L; Fang X; Ye P; Ma J
    Ophthalmic Genet; 2024 Apr; 45(2):153-158. PubMed ID: 38419580
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Unique retinal signaling defect in GNB5-related disease.
    Shao Z; Tumber A; Maynes J; Tavares E; Kannu P; Heon E; Vincent A
    Doc Ophthalmol; 2020 Jun; 140(3):273-277. PubMed ID: 31720979
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Isolated foveal hypoplasia without nystagmus.
    Giocanti-Aurégan A; Witmer MT; Radcliffe NM; D'Amico DJ
    Int Ophthalmol; 2014 Aug; 34(4):877-80. PubMed ID: 24442758
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Foveal cavitation as an optical coherence tomography finding in central cone dysfunction.
    Leng T; Marmor MF; Kellner U; Thompson DA; Renner AB; Moore W; Sowden JC
    Retina; 2012 Jul; 32(7):1411-9. PubMed ID: 22466470
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Correlation between electroretinography, foveal anatomy and visual acuity in albinism.
    Hu Z; Wang K; Bertsch M; Dunn T; Kehoe T; Kemerley AD; Helms M; Bhattarai S; Pfeifer W; Scheetz TE; Drack AV
    Doc Ophthalmol; 2019 Aug; 139(1):21-32. PubMed ID: 30927186
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Oligocone trichromacy: clinical and molecular genetic investigations.
    Andersen MK; Christoffersen NL; Sander B; Edmund C; Larsen M; Grau T; Wissinger B; Kohl S; Rosenberg T
    Invest Ophthalmol Vis Sci; 2010 Jan; 51(1):89-95. PubMed ID: 19797231
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Potential of handheld optical coherence tomography to determine cause of infantile nystagmus in children by using foveal morphology.
    Lee H; Sheth V; Bibi M; Maconachie G; Patel A; McLean RJ; Michaelides M; Thomas MG; Proudlock FA; Gottlob I
    Ophthalmology; 2013 Dec; 120(12):2714-2724. PubMed ID: 24161406
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation.
    Perez Y; Gradstein L; Flusser H; Markus B; Cohen I; Langer Y; Marcus M; Lifshitz T; Kadir R; Birk OS
    Eur J Hum Genet; 2014 May; 22(5):703-6. PubMed ID: 24045842
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 'Congenital' nystagmus may hide various ophthalmic diagnoses.
    Holmström G; Bondeson ML; Eriksson U; Åkerblom H; Larsson E
    Acta Ophthalmol; 2014 Aug; 92(5):412-6. PubMed ID: 23889849
    [TBL] [Abstract][Full Text] [Related]  

  • 16. SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization.
    Kuht HJ; Han J; Maconachie GDE; Park SE; Lee ST; McLean R; Sheth V; Hisaund M; Dawar B; Sylvius N; Mahmood U; Proudlock FA; Gottlob I; Lim HT; Thomas MG
    Hum Mol Genet; 2020 Nov; 29(18):2989-3002. PubMed ID: 32744312
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A phenotype-genotype correlation study of X-linked retinoschisis.
    Vincent A; Robson AG; Neveu MM; Wright GA; Moore AT; Webster AR; Holder GE
    Ophthalmology; 2013 Jul; 120(7):1454-64. PubMed ID: 23453514
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Dome-shaped macula in oculocutaneous albinism.
    Kumar V; Molla K; Chandra P; Kumar A
    BMJ Case Rep; 2016 Apr; 2016():. PubMed ID: 27118754
    [No Abstract]   [Full Text] [Related]  

  • 19. Electroretinography and optical coherence tomography reveal abnormal post-photoreceptoral activity and altered retinal lamination in patients with enhanced S-cone syndrome.
    Sustar M; Perovšek D; Cima I; Stirn-Kranjc B; Hawlina M; Brecelj J
    Doc Ophthalmol; 2015 Jun; 130(3):165-77. PubMed ID: 25663266
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Optical coherence tomography studies provides new insights into diagnosis and prognosis of infantile nystagmus: a review.
    Thomas MG; Gottlob I
    Strabismus; 2012 Dec; 20(4):175-80. PubMed ID: 23211143
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.