BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

173 related articles for article (PubMed ID: 33057649)

  • 1. Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial.
    Kuehlewein L; Zobor D; Andreasson SO; Ayuso C; Banfi S; Bocquet B; Bernd AS; Biskup S; Boon CJF; Downes SM; Fischer MD; Holz FG; Kellner U; Leroy BP; Meunier I; Nasser F; Rosenberg T; Rudolph G; Stingl K; Thiadens AAHJ; Wilhelm B; Wissinger B; Zrenner E; Kohl S; Weisschuh N;
    JAMA Ophthalmol; 2020 Dec; 138(12):1241-1250. PubMed ID: 33057649
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Central Visual Function and Genotype-Phenotype Correlations in PDE6A-Associated Retinitis Pigmentosa.
    Kuehlewein L; Straßer T; Blumenstock G; Stingl K; Fischer MD; Wilhelm B; Zrenner E; Wissinger B; Kohl S; Weisschuh N; Zobor D;
    Invest Ophthalmol Vis Sci; 2022 May; 63(5):9. PubMed ID: 35533076
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical Phenotype of
    Kuehlewein L; Zobor D; Stingl K; Kempf M; Nasser F; Bernd A; Biskup S; Cremers FPM; Khan MI; Mazzola P; Schäferhoff K; Heinrich T; Haack TB; Wissinger B; Zrenner E; Weisschuh N; Kohl S
    Int J Mol Sci; 2021 Feb; 22(5):. PubMed ID: 33673512
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Increased Plasma cGMP in a Family With Autosomal Recessive Retinitis Pigmentosa Due to Homozygous Mutations in the PDE6A Gene.
    Kjellström U; Veiga-Crespo P; Andréasson S; Ekström P
    Invest Ophthalmol Vis Sci; 2016 Nov; 57(14):6048-6057. PubMed ID: 27820873
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families.
    Khan SY; Ali S; Naeem MA; Khan SN; Husnain T; Butt NH; Qazi ZA; Akram J; Riazuddin S; Ayyagari R; Hejtmancik JF; Riazuddin SA
    Mol Vis; 2015; 21():871-82. PubMed ID: 26321862
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Phenotypic Features of Oguchi Disease and Retinitis Pigmentosa in Patients with S-Antigen Mutations: A Long-Term Follow-up Study.
    Nishiguchi KM; Ikeda Y; Fujita K; Kunikata H; Akiho M; Hashimoto K; Hosono K; Kurata K; Koyanagi Y; Akiyama M; Suzuki T; Kawasaki R; Wada Y; Hotta Y; Sonoda KH; Murakami A; Nakazawa M; Nakazawa T; Abe T
    Ophthalmology; 2019 Nov; 126(11):1557-1566. PubMed ID: 31257036
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Novel variants in PDE6A and PDE6B genes and its phenotypes in patients with retinitis pigmentosa in Chinese families.
    Li Y; Li R; Dai H; Li G
    BMC Ophthalmol; 2022 Jan; 22(1):27. PubMed ID: 35033039
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Retinitis pigmentosa: impact of different Pde6a point mutations on the disease phenotype.
    Sothilingam V; Garcia Garrido M; Jiao K; Buena-Atienza E; Sahaboglu A; Trifunović D; Balendran S; Koepfli T; Mühlfriedel R; Schön C; Biel M; Heckmann A; Beck SC; Michalakis S; Wissinger B; Seeliger MW; Paquet-Durand F
    Hum Mol Genet; 2015 Oct; 24(19):5486-99. PubMed ID: 26188004
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study.
    Talib M; van Schooneveld MJ; van Genderen MM; Wijnholds J; Florijn RJ; Ten Brink JB; Schalij-Delfos NE; Dagnelie G; Cremers FPM; Wolterbeek R; Fiocco M; Thiadens AA; Hoyng CB; Klaver CC; Bergen AA; Boon CJF
    Ophthalmology; 2017 Jun; 124(6):884-895. PubMed ID: 28341475
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Clinical and genetic findings in Italian patients with sector retinitis pigmentosa.
    Verdina T; Greenstein VC; Tsang SH; Murro V; Mucciolo DP; Passerini I; Mastropasqua R; Cavallini GM; Virgili G; Giansanti F; Sodi A
    Mol Vis; 2021; 27():78-94. PubMed ID: 33688152
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical and genetic investigations of three Moroccan families with retinitis pigmentosa phenotypes.
    Bouzidi A; Charif M; Bouzidi A; Amalou G; Kandil M; Barakat A; Lenaers G
    Mol Vis; 2021; 27():17-25. PubMed ID: 33633436
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.
    Pierrache LHM; Kimchi A; Ratnapriya R; Roberts L; Astuti GDN; Obolensky A; Beryozkin A; Tjon-Fo-Sang MJH; Schuil J; Klaver CCW; Bongers EMHF; Haer-Wigman L; Schalij N; Breuning MH; Fischer GM; Banin E; Ramesar RS; Swaroop A; van den Born LI; Sharon D; Cremers FPM
    Ophthalmology; 2017 Jul; 124(7):992-1003. PubMed ID: 28412069
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel mutation and phenotypes in phosphodiesterase 6 deficiency.
    Tsang SH; Tsui I; Chou CL; Zernant J; Haamer E; Iranmanesh R; Tosi J; Allikmets R
    Am J Ophthalmol; 2008 Nov; 146(5):780-8. PubMed ID: 18723146
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A new PDE6A missense variant p.Arg544Gln in rod-cone dystrophy.
    Hayashi T; Mizobuchi K; Kameya S; Yoshitake K; Iwata T; Nakano T
    Doc Ophthalmol; 2021 Aug; 143(1):107-114. PubMed ID: 33611760
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Next-generation sequencing revealed a novel mutation in the gene encoding the beta subunit of rod phosphodiesterase.
    Shen S; Sujirakul T; Tsang SH
    Ophthalmic Genet; 2014 Sep; 35(3):142-50. PubMed ID: 24828262
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Next-generation sequencing--based genetic testing and phenotype correlation in retinitis pigmentosa patients from India.
    Sen P; Srikrupa N; Maitra P; Srilekha S; Porkodi P; Gnanasekaran H; Bhende M; Khetan V; Mathavan S; Bhende P; Ratra D; Raman R; Rao C; Sripriya S
    Indian J Ophthalmol; 2023 Jun; 71(6):2512-2520. PubMed ID: 37322672
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations.
    Sandberg MA; Rosner B; Weigel-DiFranco C; Dryja TP; Berson EL
    Invest Ophthalmol Vis Sci; 2007 Mar; 48(3):1298-304. PubMed ID: 17325176
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Advancing Gene Therapy for PDE6A Retinitis Pigmentosa.
    Petersen-Jones SM; Occelli LM; Biel M; Michalakis S
    Adv Exp Med Biol; 2019; 1185():103-107. PubMed ID: 31884596
    [TBL] [Abstract][Full Text] [Related]  

  • 20. LONG-TERM FOLLOW-UP OF PATIENTS WITH RETINITIS PIGMENTOSA TYPE 12 CAUSED BY CRB1 MUTATIONS: A Severe Phenotype With Considerable Interindividual Variability.
    Mathijssen IB; Florijn RJ; van den Born LI; Zekveld-Vroon RC; Ten Brink JB; Plomp AS; Baas F; Meijers-Heijboer H; Bergen AA; van Schooneveld MJ
    Retina; 2017 Jan; 37(1):161-172. PubMed ID: 27380427
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.