BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

175 related articles for article (PubMed ID: 33057649)

  • 21. RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa.
    Jayasundera T; Branham KE; Othman M; Rhoades WR; Karoukis AJ; Khanna H; Swaroop A; Heckenlively JR
    Arch Ophthalmol; 2010 Jul; 128(7):915-23. PubMed ID: 20625056
    [TBL] [Abstract][Full Text] [Related]  

  • 22. High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis Pigmentosa.
    Bellingrath JS; Ochakovski GA; Seitz IP; Kohl S; Zrenner E; Hanig N; Prokisch H; Weber BH; Downes SM; Ramsden S; MacLaren RE; Fischer MD
    Invest Ophthalmol Vis Sci; 2017 Sep; 58(11):4457-4466. PubMed ID: 28863407
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Long-term clinical course of 2 Japanese patients with PRPF31-related retinitis pigmentosa.
    Kurata K; Hosono K; Hotta Y
    Jpn J Ophthalmol; 2018 Mar; 62(2):186-193. PubMed ID: 29305715
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations.
    Di Iorio V; Karali M; Melillo P; Testa F; Brunetti-Pierri R; Musacchia F; Condroyer C; Neidhardt J; Audo I; Zeitz C; Banfi S; Simonelli F
    Invest Ophthalmol Vis Sci; 2020 Dec; 61(14):36. PubMed ID: 33372982
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Early-Onset X-Linked Retinitis Pigmentosa in a Heterozygous Female Harboring an Intronic Donor Splice Site Mutation in the Retinitis Pigmentosa GTPase Regulator Gene.
    Shifera AS; Kay CN
    Ophthalmic Genet; 2015; 36(3):251-6. PubMed ID: 24428633
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis.
    Avila-Fernandez A; Corton M; Nishiguchi KM; Muñoz-Sanz N; Benavides-Mori B; Blanco-Kelly F; Riveiro-Alvarez R; Garcia-Sandoval B; Rivolta C; Ayuso C
    Ophthalmology; 2012 Dec; 119(12):2616-21. PubMed ID: 22917891
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Co-Existence of Novel PDE6A Mutations and A Recurrent RPGR Mutation: A Potential Explanation for Phenotypic Diversity in Female RPGR Mutation Carriers.
    Chen X; Sheng X; Liu G; Liu Y; Li H; Xie P; Liu Q; Yan B; Zhao C
    Curr Mol Med; 2018; 18(5):306-311. PubMed ID: 30289068
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Clinical and Electrophysiologic Characteristics of a Large Kindred with X-Linked Retinitis Pigmentosa Associated with the RPGR Locus.
    Tzu JH; Arguello T; Berrocal AM; Berrocal M; Weisman AD; Liu M; Hess D; Caputo M; Goldberg JL; Feuer WJ; Stone EM; Lam BL
    Ophthalmic Genet; 2015; 36(4):321-6. PubMed ID: 24555744
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Unique combination of clinical features in a large cohort of 100 patients with retinitis pigmentosa caused by FAM161A mutations.
    Beryozkin A; Khateb S; Idrobo-Robalino CA; Khan MI; Cremers FPM; Obolensky A; Hanany M; Mezer E; Chowers I; Newman H; Ben-Yosef T; Sharon D; Banin E
    Sci Rep; 2020 Sep; 10(1):15156. PubMed ID: 32938956
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Detailed comparison of phenotype between male patients carrying variants in exons 1-14 and ORF15 of RPGR.
    Zou X; Fang S; Wu S; Li H; Sun Z; Zhu T; Wei X; Sui R
    Exp Eye Res; 2020 Sep; 198():108147. PubMed ID: 32702353
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort.
    Zobor D; Zobor G; Hipp S; Baumann B; Weisschuh N; Biskup S; Sliesoraityte I; Zrenner E; Kohl S
    Invest Ophthalmol Vis Sci; 2018 Jun; 59(7):3041-3052. PubMed ID: 30025130
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Sector Retinitis Pigmentosa: Extending the Molecular Genetics Basis and Elucidating the Natural History.
    Georgiou M; Grewal PS; Narayan A; Alser M; Ali N; Fujinami K; Webster AR; Michaelides M
    Am J Ophthalmol; 2021 Jan; 221():299-310. PubMed ID: 32795431
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1).
    Berson EL; Grimsby JL; Adams SM; McGee TL; Sweklo E; Pierce EA; Sandberg MA; Dryja TP
    Invest Ophthalmol Vis Sci; 2001 Sep; 42(10):2217-24. PubMed ID: 11527933
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Variable expressivity in patients with autosomal recessive retinitis pigmentosa associated with the gene
    Radojevic B; Jones K; Klein M; Mauro-Herrera M; Kingsley R; Birch DG; Bennett LD
    Ophthalmic Genet; 2021 Feb; 42(1):15-22. PubMed ID: 33465333
    [TBL] [Abstract][Full Text] [Related]  

  • 35. P.arg102ser is a common Pde6a mutation causing autosomal recessive retinitis pigmentosa in Pakistani families.
    Khan AA; Waryah YM; Iqbal M; Azhar Baig HM; Rafique M; Waryah AM
    J Pak Med Assoc; 2021 Mar; 71(3):816-821. PubMed ID: 34057927
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Changes in Retinal Sensitivity Associated With Cotoretigene Toliparvovec in X-Linked Retinitis Pigmentosa With RPGR Gene Variations.
    von Krusenstiern L; Liu J; Liao E; Gow JA; Chen G; Ong T; Lotery AJ; Jalil A; Lam BL; MacLaren RE;
    JAMA Ophthalmol; 2023 Mar; 141(3):275-283. PubMed ID: 36757689
    [TBL] [Abstract][Full Text] [Related]  

  • 37. CEP290 Mutation Spectrum and Delineation of the Associated Phenotype in a Large German Cohort: A Monocentric Study.
    Feldhaus B; Weisschuh N; Nasser F; den Hollander AI; Cremers FPM; Zrenner E; Kohl S; Zobor D
    Am J Ophthalmol; 2020 Mar; 211():142-150. PubMed ID: 31734136
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Phenotypic expression of autosomal dominant retinitis pigmentosa in a Swedish family expressing a Phe-211-Leu variant of peripherin/RDS.
    Ekström U; Ponjavic V; Abrahamson M; Nilsson-Ehle P; Andrëasson S; Stenström I; Ehinger B
    Ophthalmic Genet; 1998 Mar; 19(1):27-37. PubMed ID: 9587927
    [TBL] [Abstract][Full Text] [Related]  

  • 39. X-Chromosome Inactivation Is a Biomarker of Clinical Severity in Female Carriers of RPGR-Associated X-Linked Retinitis Pigmentosa.
    Fahim AT; Sullivan LS; Bowne SJ; Jones KD; Wheaton DKH; Khan NW; Heckenlively JR; Jayasundera KT; Branham KH; Andrews CA; Othman MI; Karoukis AJ; Birch DG; Daiger SP
    Ophthalmol Retina; 2020 May; 4(5):510-520. PubMed ID: 31953110
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort.
    Smirnov VM; Nassisi M; Solis Hernandez C; Méjécase C; El Shamieh S; Condroyer C; Antonio A; Meunier I; Andrieu C; Defoort-Dhellemmes S; Mohand-Said S; Sahel JA; Audo I; Zeitz C
    JAMA Ophthalmol; 2021 Mar; 139(3):278-291. PubMed ID: 33507216
    [TBL] [Abstract][Full Text] [Related]  

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