BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

411 related articles for article (PubMed ID: 31574917)

  • 1. Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies.
    Boulanger-Scemama E; Mohand-Saïd S; El Shamieh S; Démontant V; Condroyer C; Antonio A; Michiels C; Boyard F; Saraiva JP; Letexier M; Sahel JA; Zeitz C; Audo I
    Int J Mol Sci; 2019 Sep; 20(19):. PubMed ID: 31574917
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Genotypes Predispose Phenotypes-Clinical Features and Genetic Spectrum of
    Sung YC; Yang CH; Yang CM; Lin CW; Huang DS; Huang YS; Hu FR; Chen PL; Chen TC
    Genes (Basel); 2020 Nov; 11(12):. PubMed ID: 33261146
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Quantitative Fundus Autofluorescence and Genetic Associations in Macular, Cone, and Cone-Rod Dystrophies.
    Gliem M; Müller PL; Birtel J; Herrmann P; McGuinness MB; Holz FG; Charbel Issa P
    Ophthalmol Retina; 2020 Jul; 4(7):737-749. PubMed ID: 32646556
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Characterization of the cone-rod dystrophy retinal phenotype caused by novel homozygous DRAM2 mutations.
    Abad-Morales V; Burés-Jelstrup A; Navarro R; Ruiz-Nogales S; Méndez-Vendrell P; Corcóstegui B; Pomares E
    Exp Eye Res; 2019 Oct; 187():107752. PubMed ID: 31394102
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Case Report: Multimodal Imaging Features of an ABCA4 Cone Dystrophy.
    Monferrer-Adsuara C; Montero-Hernández J; Castro-Navarro V; Remolí-Sargues L; Cervera-Taulet E
    Optom Vis Sci; 2022 Feb; 99(2):195-201. PubMed ID: 34897229
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Phenotypic diversity in autosomal-dominant cone-rod dystrophy elucidated by adaptive optics retinal imaging.
    Song H; Rossi EA; Stone E; Latchney L; Williams D; Dubra A; Chung M
    Br J Ophthalmol; 2018 Jan; 102(1):136-141. PubMed ID: 29074494
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Multimodal Imaging in Autosomal Dominant Cone-Rod Dystrophy Caused by Novel CRX Variant.
    D'Esposito F; Cennamo G; de Crecchio G; Maltese PE; Cecchin S; Bertelli M; Ziccardi L; Esposito Veneruso P; Magli A; Cennamo G; Cordeiro MF
    Ophthalmic Res; 2018; 60(3):169-175. PubMed ID: 30078014
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Clinical, Genotypic, and Imaging Characterization of the Spectrum of ABCA4 Retinopathies.
    Romano F; Lamanna F; Boon CJF; Siligato A; Kalra G; Agarwal A; Medori C; Bertelli M; Pellegrini M; Invernizzi A; Staurenghi G; Salvetti AP
    Ophthalmol Retina; 2024 May; 8(5):509-519. PubMed ID: 37924945
    [TBL] [Abstract][Full Text] [Related]  

  • 9. PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT.
    Khateb S; Mohand-Saïd S; Nassisi M; Bonnet C; Roux AF; Andrieu C; Antonio A; Condroyer C; Zeitz C; Devisme C; Loundon N; Marlin S; Petit C; Bodaghi B; Sahel JA; Audo I
    Retina; 2020 Aug; 40(8):1603-1615. PubMed ID: 31479088
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype.
    Hull S; Arno G; Plagnol V; Chamney S; Russell-Eggitt I; Thompson D; Ramsden SC; Black GC; Robson AG; Holder GE; Moore AT; Webster AR
    Invest Ophthalmol Vis Sci; 2014 Sep; 55(10):6934-44. PubMed ID: 25270190
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Variants at codon 838 in the
    Sun Z; Wu S; Zhu T; Li H; Wei X; Du H; Sui R
    Ophthalmic Genet; 2020 Dec; 41(6):548-555. PubMed ID: 32811265
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B.
    Khateb S; Nassisi M; Bujakowska KM; Méjécase C; Condroyer C; Antonio A; Foussard M; Démontant V; Mohand-Saïd S; Sahel JA; Zeitz C; Audo I
    JAMA Ophthalmol; 2019 Jun; 137(6):669-679. PubMed ID: 30998820
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel
    Smirnov V; Grunewald O; Muller J; Zeitz C; Obermaier CD; Devos A; Pelletier V; Bocquet B; Andrieu C; Bacquet JL; Lebredonchel E; Mohand-Saïd S; Defoort-Dhellemmes S; Sahel JA; Dollfus H; Zanlonghi X; Audo I; Meunier I; Boulanger-Scemama E; Dhaenens CM
    Int J Mol Sci; 2021 Jun; 22(12):. PubMed ID: 34203883
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants.
    Del Pozo-Valero M; Riveiro-Alvarez R; Blanco-Kelly F; Aguirre-Lamban J; Martin-Merida I; Iancu IF; Swafiri S; Lorda-Sanchez I; Rodriguez-Pinilla E; Trujillo-Tiebas MJ; Jimenez-Rolando B; Carreño E; Mahillo-Fernandez I; Rivolta C; Corton M; Avila-Fernandez A; Garcia-Sandoval B; Ayuso C
    Am J Ophthalmol; 2020 Nov; 219():195-204. PubMed ID: 32619608
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel pathogenic variants in Tubulin Tyrosine Like 5 (
    Kolawole OU; Gregory-Evans CY; Bikoo R; Huang AZ; Gregory-Evans K
    Mol Vis; 2023; 29():329-337. PubMed ID: 38264610
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Cone dystrophy or macular dystrophy associated with novel autosomal dominant
    Manes G; Mamouni S; Hérald E; Richard AC; Sénéchal A; Aouad K; Bocquet B; Meunier I; Hamel CP
    Mol Vis; 2017; 23():198-209. PubMed ID: 28442884
    [TBL] [Abstract][Full Text] [Related]  

  • 17. High-resolution optical coherence tomography imaging in KCNV2 retinopathy.
    Sergouniotis PI; Holder GE; Robson AG; Michaelides M; Webster AR; Moore AT
    Br J Ophthalmol; 2012 Feb; 96(2):213-7. PubMed ID: 21558291
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene.
    Hipp S; Zobor G; Glöckle N; Mohr J; Kohl S; Zrenner E; Weisschuh N; Zobor D
    Acta Ophthalmol; 2015 Jun; 93(4):e281-6. PubMed ID: 25429852
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Genotype-Phenotype Correlations in Patients with CRB1 Mutations].
    Papadopoulou Laiou C; Preising MN; Bolz HJ; Lorenz B
    Klin Monbl Augenheilkd; 2017 Mar; 234(3):289-302. PubMed ID: 28355663
    [No Abstract]   [Full Text] [Related]  

  • 20. Phenotypic and Genetic Alterations in Adult-Onset Cone and Cone-Rod Dystrophy.
    Kim DJ; Woo SJ; Joo K
    Ophthalmic Res; 2024; 67(1):9-22. PubMed ID: 38091967
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 21.