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 *

167 related articles for article (PubMed ID: 35444405)

  • 21. Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review.
    Sallum JMF; Kaur VP; Shaikh J; Banhazi J; Spera C; Aouadj C; Viriato D; Fischer MD
    Adv Ther; 2022 Mar; 39(3):1179-1198. PubMed ID: 35098484
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases.
    Shah M; Shanks M; Packham E; Williams J; Haysmoore J; MacLaren RE; Németh AH; Clouston P; Downes SM
    Ophthalmic Genet; 2020 Aug; 41(4):331-337. PubMed ID: 32543920
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Updating the Genetic Landscape of Inherited Retinal Dystrophies.
    García Bohórquez B; Aller E; Rodríguez Muñoz A; Jaijo T; García García G; Millán JM
    Front Cell Dev Biol; 2021; 9():645600. PubMed ID: 34327195
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Gene therapy for inherited retinal diseases: progress and possibilities.
    Hu ML; Edwards TL; O'Hare F; Hickey DG; Wang JH; Liu Z; Ayton LN
    Clin Exp Optom; 2021 May; 104(4):444-454. PubMed ID: 33689657
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Descriptive Study of a Cohort of 488 Patients with Inherited Retinal Dystrophies.
    Coco-Martin RM; Diego-Alonso M; Orduz-Montaña WA; Sanabria MR; Sanchez-Tocino H
    Clin Ophthalmol; 2021; 15():1075-1084. PubMed ID: 33727790
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Collaborative Research and Development of a Novel, Patient-Centered Digital Platform (MyEyeSite) for Rare Inherited Retinal Disease Data: Acceptability and Feasibility Study.
    Gilbert RM; Sumodhee D; Pontikos N; Hollyhead C; Patrick A; Scarles S; Van Der Smissen S; Young RM; Nettleton N; Webster AR; Cammack J
    JMIR Form Res; 2022 Jan; 6(1):e21341. PubMed ID: 35099396
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Current Management of Inherited Retinal Degeneration Patients in Europe: Results of a 2-Year Follow-Up Multinational Survey by the European Vision Institute Clinical Research Network - EVICR.net.
    Lorenz B; Tavares J; van den Born LI; Marques JP; Pilotto E; Stingl K; Charbel Issa P; Leroux D; Dollfus H; Scholl HPN; ;
    Ophthalmic Res; 2023; 66(1):550-568. PubMed ID: 36592621
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Perception of genetic testing among patients with inherited retinal disease: Benefits and challenges in a Japanese population.
    Inaba A; Yoshida A; Maeda A; Kawai K; Kosugi S; Takahashi M
    J Genet Couns; 2022 Aug; 31(4):860-867. PubMed ID: 35106875
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene).
    Nguyen Q; Woof W; Kabiri N; Sen S; Daich Varela M; Cabral De Guimaraes TA; Shah M; Sumodhee D; Moghul I; Al-Khuzaei S; Liu Y; Hollyhead C; Tailor B; Lobo L; Veal C; Archer S; Furman J; Arno G; Gomes M; Fujinami K; Madhusudhan S; Mahroo OA; Webster AR; Balaskas K; Downes SM; Michaelides M; Pontikos N;
    BMJ Open; 2023 Mar; 13(3):e071043. PubMed ID: 36940949
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Current Management of Inherited Retinal Degeneration Patients in Europe: Results of a Multinational Survey by the European Vision Institute Clinical Research Network.
    Lorenz B; Tavares J; van den Born LI; Marques JP; Scholl HPN;
    Ophthalmic Res; 2021; 64(4):622-638. PubMed ID: 33465765
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Mutation spectrum and genotype-phenotype correlation of inherited retinal dystrophy in Taiwan.
    Chen ZJ; Lin KH; Lee SH; Shen RJ; Feng ZK; Wang XF; Huang XF; Huang ZQ; Jin ZB
    Clin Exp Ophthalmol; 2020 May; 48(4):486-499. PubMed ID: 31872526
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes.
    Astuti GDN; van den Born LI; Khan MI; Hamel CP; Bocquet B; Manes G; Quinodoz M; Ali M; Toomes C; McKibbin M; El-Asrag ME; Haer-Wigman L; Inglehearn CF; Black GCM; Hoyng CB; Cremers FPM; Roosing S
    Genes (Basel); 2018 Jan; 9(1):. PubMed ID: 29320387
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Retinal vessel oximetry in children with inherited retinal diseases.
    Della Volpe Waizel M; Scholl HPN; Valmaggia C; Todorova MG
    Acta Ophthalmol; 2021 Feb; 99(1):52-60. PubMed ID: 32573052
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year period.
    Weisschuh N; Obermaier CD; Battke F; Bernd A; Kuehlewein L; Nasser F; Zobor D; Zrenner E; Weber E; Wissinger B; Biskup S; Stingl K; Kohl S
    Hum Mutat; 2020 Sep; 41(9):1514-1527. PubMed ID: 32531858
    [TBL] [Abstract][Full Text] [Related]  

  • 35. The Impact of Inherited Retinal Diseases in the Republic of Ireland (ROI) and the United Kingdom (UK) from a Cost-of-Illness Perspective.
    Galvin O; Chi G; Brady L; Hippert C; Del Valle Rubido M; Daly A; Michaelides M
    Clin Ophthalmol; 2020; 14():707-719. PubMed ID: 32184557
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies.
    Di Iorio V; Karali M; Brunetti-Pierri R; Filippelli M; Di Fruscio G; Pizzo M; Mutarelli M; Nigro V; Testa F; Banfi S; Simonelli F
    Genes (Basel); 2017 Oct; 8(10):. PubMed ID: 29053603
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Current Management of Patients with RPE65 Mutation-Associated Inherited Retinal Degenerations in Europe: Results of a Multinational Survey by the European Vision Institute Clinical Research Network.
    Lorenz B; Tavares J; van den Born LI; Marques JP; Scholl HPN;
    Ophthalmic Res; 2021; 64(5):740-753. PubMed ID: 33684911
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Toward an elucidation of the molecular genetics of inherited retinal degenerations.
    Farrar GJ; Carrigan M; Dockery A; Millington-Ward S; Palfi A; Chadderton N; Humphries M; Kiang AS; Kenna PF; Humphries P
    Hum Mol Genet; 2017 Aug; 26(R1):R2-R11. PubMed ID: 28510639
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations.
    Stephenson KAJ; Zhu J; Wynne N; Dockery A; Cairns RM; Duignan E; Whelan L; Malone CP; Dempsey H; Collins K; Routledge S; Pandey R; Crossan E; Turner J; O'Byrne JJ; Brady L; Silvestri G; Kenna PF; Farrar GJ; Keegan DJ
    Orphanet J Rare Dis; 2021 May; 16(1):200. PubMed ID: 33952326
    [TBL] [Abstract][Full Text] [Related]  

  • 40. The phenotypic variability of HK1-associated retinal dystrophy.
    Yuan Z; Li B; Xu M; Chang EY; Li H; Yang L; Wu S; Soens ZT; Li Y; Wong LC; Lewis RA; Sui R; Chen R
    Sci Rep; 2017 Aug; 7(1):7051. PubMed ID: 28765615
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.