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 *

137 related articles for article (PubMed ID: 36128853)

  • 1. Natural history and biomarkers of retinal dystrophy caused by the biallelic TULP1 variant c.148delG.
    Majander A; Sankila EM; Falck A; Vasara LK; Seitsonen S; Kulmala M; Haavisto AK; Avela K; Turunen JA
    Acta Ophthalmol; 2023 Mar; 101(2):215-221. PubMed ID: 36128853
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.
    Roosing S; van den Born LI; Hoyng CB; Thiadens AA; de Baere E; Collin RW; Koenekoop RK; Leroy BP; van Moll-Ramirez N; Venselaar H; Riemslag FC; Cremers FP; Klaver CC; den Hollander AI
    Ophthalmology; 2013 Jun; 120(6):1239-46. PubMed ID: 23499059
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy.
    Bodenbender JP; Marino V; Bethge L; Stingl K; Haack TB; Biskup S; Kohl S; Kühlewein L; Dell'Orco D; Weisschuh N
    Int J Mol Sci; 2023 Jan; 24(3):. PubMed ID: 36769033
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.
    Georgiou M; Robson AG; Jovanovic K; Guimarães TAC; Ali N; Pontikos N; Uwaydat SH; Mahroo OA; Cheetham ME; Webster AR; Hardcastle AJ; Michaelides M
    Ophthalmology; 2023 Apr; 130(4):413-422. PubMed ID: 36423731
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Outer retinal layers as predictors of visual acuity in retinitis pigmentosa: a cross-sectional study.
    Sousa K; Fernandes T; Gentil R; Mendonça L; Falcão M
    Graefes Arch Clin Exp Ophthalmol; 2019 Feb; 257(2):265-271. PubMed ID: 30456418
    [TBL] [Abstract][Full Text] [Related]  

  • 7. TULP1 mutations causing early-onset retinal degeneration: preserved but insensitive macular cones.
    Jacobson SG; Cideciyan AV; Huang WC; Sumaroka A; Roman AJ; Schwartz SB; Luo X; Sheplock R; Dauber JM; Swider M; Stone EM
    Invest Ophthalmol Vis Sci; 2014 Jul; 55(8):5354-64. PubMed ID: 25074776
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in
    Souzeau E; Thompson JA; McLaren TL; De Roach JN; Barnett CP; Lamey TM; Craig JE
    Mol Vis; 2018; 24():478-484. PubMed ID: 30090012
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The qualitative assessment of optical coherence tomography and the central retinal sensitivity in patients with retinitis pigmentosa.
    Hara A; Nakazawa M; Saito M; Suzuki Y
    PLoS One; 2020; 15(5):e0232700. PubMed ID: 32392207
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophy.
    Testa F; Melillo P; Di Iorio V; Iovino C; Farinaro F; Karali M; Banfi S; Rossi S; Della Corte M; Simonelli F
    Sci Rep; 2022 Oct; 12(1):17637. PubMed ID: 36271235
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A TULP1 founder mutation, p.Gln301*, underlies a recognisable congenital rod-cone dystrophy phenotype on the Arabian Peninsula.
    Khan AO; Bergmann C; Eisenberger T; Bolz HJ
    Br J Ophthalmol; 2015 Apr; 99(4):488-92. PubMed ID: 25342276
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Foveal Hypoplasia in
    Rodriguez-Martinez AC; Higgins BE; Tailor-Hamblin V; Malka S; Cheloni R; Collins AM; Bladen J; Henderson R; Moosajee M
    Int J Mol Sci; 2023 Sep; 24(18):. PubMed ID: 37762234
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Correlating optical coherence tomography biomarkers with visual acuity in nigerian retinitis pigmentosa patients.
    Okonkwo ON; Hassan AO; Ogbedo EN; Akanbi T; Umeh V; Agweye CT
    Niger J Clin Pract; 2022 Mar; 25(3):267-272. PubMed ID: 35295047
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Multimodal imaging of foveal cavitation in retinal dystrophies.
    Parodi MB; Cicinelli MV; Iacono P; Bolognesi G; Bandello F
    Graefes Arch Clin Exp Ophthalmol; 2017 Feb; 255(2):271-279. PubMed ID: 27491512
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Predictive value of spectral-domain optical coherence tomography features in assessment of visual prognosis in eyes with acute welding arc maculopathy.
    Zhang C; Dang G; Zhao T; Wang D; Su Y; Qu Y
    Int Ophthalmol; 2019 May; 39(5):1081-1088. PubMed ID: 29651692
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Retinitis Punctata Albescens and
    Bocquet B; El Alami Trebki H; Roux AF; Labesse G; Brabet P; Arndt C; Zanlonghi X; Defoort-Dhellemmes S; Hamroun D; Boulicot-Séguin C; Lequeux L; Picot MC; Huguet H; Audo I; Dhaenens CM; Kalatzis V; Meunier I
    Ophthalmol Sci; 2021 Sep; 1(3):100052. PubMed ID: 36247817
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel homozygous missense mutation p.P388S in
    Woodard DR; Xing C; Ganne P; Liang H; Mahindrakar A; Sankurathri C; Hulleman JD; Mootha VV
    Mol Vis; 2021; 27():179-190. PubMed ID: 33907372
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration.
    Lewis CA; Batlle IR; Batlle KG; Banerjee P; Cideciyan AV; Huang J; Alemán TS; Huang Y; Ott J; Gilliam TC; Knowles JA; Jacobson SG
    Invest Ophthalmol Vis Sci; 1999 Aug; 40(9):2106-14. PubMed ID: 10440267
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.
    Mataftsi A; Schorderet DF; Chachoua L; Boussalah M; Nouri MT; Barthelmes D; Borruat FX; Munier FL
    Invest Ophthalmol Vis Sci; 2007 Nov; 48(11):5160-7. PubMed ID: 17962469
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290.
    Valkenburg D; van Cauwenbergh C; Lorenz B; van Genderen MM; Bertelsen M; Pott JR; Coppieters F; de Zaeytijd J; Thiadens AAHJ; Klaver CCW; Kroes HY; van Schooneveld MJ; Preising M; Hoyng CB; Leroy BP; van den Born LI; Collin RWJ
    Invest Ophthalmol Vis Sci; 2018 Sep; 59(11):4384-4391. PubMed ID: 30193310
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.