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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

322 related articles for article (PubMed ID: 33877487)

  • 1. Long-term follow-up of a patient with JAG1-associated retinopathy.
    Cheema MR; Stone LG; Sellar PW; Quinn S; Clark SC; Martin RJ; O'Brien JM; Warriner C; Browning AC
    Doc Ophthalmol; 2021 Oct; 143(2):237-247. PubMed ID: 33877487
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Intraretinal hemorrhages and detailed retinal phenotype of three patients with Alagille syndrome.
    Law C; Pattathil N; Simpson H; Ward MJ; Lampen S; Kamath B; Aleman TS
    Ophthalmic Genet; 2024 Oct; 45(5):522-531. PubMed ID: 38956866
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 134(9):992-1000. PubMed ID: 27386845
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Multimodal imaging and functional correlations identify unusual cases of macular retinal pigment epithelium hypopigmentation occurring without functional loss.
    Boulanger-Scemama E; Akesbi J; Tick S; Mohand-Said S; Sahel JA; Audo I
    Doc Ophthalmol; 2017 Aug; 135(1):77-83. PubMed ID: 28593392
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Macular atrophy in
    Paez-Escamilla M; Scanga HL; Liasis A; Nischal KK
    Ophthalmic Genet; 2022 Apr; 43(2):230-234. PubMed ID: 34886763
    [TBL] [Abstract][Full Text] [Related]  

  • 6. THREE-YEAR FOLLOW-UP OF PROGRESSIVE CHORIORETINAL ATROPHY IN ATYPICAL ALAGILLE SYNDROME: A CASE REPORT.
    Umemura K; Fujita K; Kamei M
    Retin Cases Brief Rep; 2024 Mar; 18(2):247-250. PubMed ID: 36730824
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Morphologic characteristics of the outer retina in cone dystrophy on spectral-domain optical coherence tomography.
    Cho SC; Woo SJ; Park KH; Hwang JM
    Korean J Ophthalmol; 2013 Feb; 27(1):19-27. PubMed ID: 23372375
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB-Mediated Autoinflammatory Disease with Retinal Dystrophy.
    Huryn LA; Kozycki CT; Serpen JY; Zein WM; Ullah E; Iannaccone A; Williams LB; Sobrin L; Brooks BP; Sen HN; Hufnagel RB; Kastner DL; Kodati S
    Ophthalmology; 2023 Apr; 130(4):423-432. PubMed ID: 36332842
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Retinal dystrophy associated with a single-base deletion mutation in mitochondrial DNA 3271 in patient with MELAS syndrome.
    Ozawa K; Mochizuki K; Manabe Y; Yoshikura N; Shimohata T; Nishino I; Goto YI
    Doc Ophthalmol; 2019 Apr; 138(2):147-152. PubMed ID: 30701423
    [TBL] [Abstract][Full Text] [Related]  

  • 10. RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping.
    Georgiou M; Fujinami K; Robson AG; Fujinami-Yokokawa Y; Shakarchi AF; Ji MH; Uwaydat SH; Kim A; Kolesnikova M; Arno G; Pontikos N; Mahroo OA; Tsang SH; Webster AR; Michaelides M
    Am J Ophthalmol; 2024 Feb; 258():119-129. PubMed ID: 37806543
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome.
    Ballios BG; Mandola A; Tayyib A; Tumber A; Garkaby J; Vong L; Heon E; Roifman CM; Vincent A
    Eye (Lond); 2023 Dec; 37(18):3734-3742. PubMed ID: 37225827
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Seroreactivity against retinal proteins in a case of POC1B gene associated cone dystrophy with normal funduscopic appearance: a systematic approach to diagnosis.
    Yanık Ö; Batıoğlu F; Sahin Y; Demirel S; Özmert E
    Ophthalmic Genet; 2023 Aug; 44(4):389-395. PubMed ID: 36094084
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Enhanced S-cone syndrome with preserved macular structure and severely depressed retinal function.
    Cima I; Brecelj J; Sustar M; Coppieters F; Leroy BP; De Baere E; Hawlina M
    Doc Ophthalmol; 2012 Oct; 125(2):161-8. PubMed ID: 22711506
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Macular staphyloma in patients affected by Joubert syndrome with retinal dystrophy: a new finding detected by SD-OCT.
    Toma C; Ruberto G; Marzi F; Vandelli G; Signorini S; Valente EM; Antonini M; Bertone C; Bianchi PE
    Doc Ophthalmol; 2018 Aug; 137(1):25-36. PubMed ID: 29987673
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Detailed functional and structural phenotype of Bietti crystalline dystrophy associated with mutations in CYP4V2 complicated by choroidal neovascularization.
    Fuerst NM; Serrano L; Han G; Morgan JI; Maguire AM; Leroy BP; Kim BJ; Aleman TS
    Ophthalmic Genet; 2016 Dec; 37(4):445-452. PubMed ID: 27028354
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Spectral domain optical coherence tomography findings in bilateral peripheral cone dystrophy.
    Baek J; Lee HK; Kim US
    Doc Ophthalmol; 2013 Jun; 126(3):247-51. PubMed ID: 23456543
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Dominant cystoid macular dystrophy.
    Saksens NT; van Huet RA; van Lith-Verhoeven JJ; den Hollander AI; Hoyng CB; Boon CJ
    Ophthalmology; 2015 Jan; 122(1):180-91. PubMed ID: 25267528
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia.
    Katagiri S; Hayashi T; Yoshitake K; Akahori M; Ikeo K; Gekka T; Tsuneoka H; Iwata T
    Ophthalmic Genet; 2016; 37(1):68-75. PubMed ID: 25113443
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene.
    Nasser F; Weisschuh N; Maffei P; Milan G; Heller C; Zrenner E; Kohl S; Kuehlewein L
    Acta Ophthalmol; 2018 Jun; 96(4):e445-e454. PubMed ID: 29193673
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Detailed phenotype and long-term follow-up of
    Rao NT; Sumaroka A; Santos AJ; Parchinski KM; Weber ML; Maguire AM; Cideciyan AV; Aleman TS
    Ophthalmic Genet; 2024 Oct; 45(5):506-515. PubMed ID: 38956823
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.