BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

157 related articles for article (PubMed ID: 32817297)

  • 1. Pathogenic variants in
    Olivier G; Corton M; Intartaglia D; Verbakel SK; Sergouniotis PI; Le Meur G; Dhaenens CM; Naacke H; Avila-Fernández A; Hoyng CB; Klevering J; Bocquet B; Roubertie A; Sénéchal A; Banfi S; Muller A; Hamel CL; Black GC; Conte I; Roosing S; Zanlonghi X; Ayuso C; Meunier I; Manes G
    J Med Genet; 2021 Aug; 58(8):570-578. PubMed ID: 32817297
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations in IMPG1 cause vitelliform macular dystrophies.
    Manes G; Meunier I; Avila-Fernández A; Banfi S; Le Meur G; Zanlonghi X; Corton M; Simonelli F; Brabet P; Labesse G; Audo I; Mohand-Said S; Zeitz C; Sahel JA; Weber M; Dollfus H; Dhaenens CM; Allorge D; De Baere E; Koenekoop RK; Kohl S; Cremers FP; Hollyfield JG; Sénéchal A; Hebrard M; Bocquet B; Ayuso García C; Hamel CP
    Am J Hum Genet; 2013 Sep; 93(3):571-8. PubMed ID: 23993198
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.
    Meunier I; Manes G; Bocquet B; Marquette V; Baudoin C; Puech B; Defoort-Dhellemmes S; Audo I; Verdet R; Arndt C; Zanlonghi X; Le Meur G; Dhaenens CM; Hamel CP
    Ophthalmology; 2014 Dec; 121(12):2406-14. PubMed ID: 25085631
    [TBL] [Abstract][Full Text] [Related]  

  • 4. SPACR Encoded by
    Olivier G; Brabet P; Pirot N; Broyon M; Guillou L; Cazevieille C; Sar C; Quiles M; Sarzi E; Pequignot M; Andreo E; Roubertie A; Meunier I; Muller A; Kalatzis V; Manes G
    Genes (Basel); 2022 Aug; 13(9):. PubMed ID: 36140676
    [TBL] [Abstract][Full Text] [Related]  

  • 5. RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy.
    Davidson AE; Sergouniotis PI; Mackay DS; Wright GA; Waseem NH; Michaelides M; Holder GE; Robson AG; Moore AT; Plagnol V; Webster AR
    Hum Mutat; 2013 Mar; 34(3):506-14. PubMed ID: 23281133
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Molecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locus.
    Abd El-Aziz MM; El-Ashry MF; Barragan I; Marcos I; Borrego S; Antiñolo G; Bhattacharya SS
    Curr Eye Res; 2005 Dec; 30(12):1081-7. PubMed ID: 16354621
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Expanding the retinal phenotype of
    Riera M; Abad-Morales V; Navarro R; Ruiz-Nogales S; Méndez-Vendrell P; Corcostegui B; Pomares E
    Br J Ophthalmol; 2020 Feb; 104(2):173-181. PubMed ID: 31079053
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Whole exome sequencing reveals novel
    Xiao X; Cao Y; Chen S; Chen M; Mai X; Zheng Y; Zhuang X; Ng TK; Chen H
    Mol Vis; 2019; 25():35-46. PubMed ID: 30804660
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Proteoglycan IMPG2 Shapes the Interphotoreceptor Matrix and Modulates Vision.
    Salido EM; Ramamurthy V
    J Neurosci; 2020 May; 40(20):4059-4072. PubMed ID: 32265257
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.
    Jones KD; Wheaton DK; Bowne SJ; Sullivan LS; Birch DG; Chen R; Daiger SP
    Mol Vis; 2017; 23():470-481. PubMed ID: 28761320
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.
    Méndez-Vidal C; González-Del Pozo M; Vela-Boza A; Santoyo-López J; López-Domingo FJ; Vázquez-Marouschek C; Dopazo J; Borrego S; Antiñolo G
    Mol Vis; 2013; 19():2187-95. PubMed ID: 24227914
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel
    Ribarich N; Rivolta MC; Sacconi R; Querques G
    Eur J Ophthalmol; 2024 Mar; 34(2):NP1-NP4. PubMed ID: 37661650
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Homozygous variants in
    de Bruijn SE; Verbakel SK; de Vrieze E; Kremer H; Cremers FPM; Hoyng CB; van den Born LI; Roosing S
    J Med Genet; 2018 Oct; 55(10):705-712. PubMed ID: 30120214
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.
    Van de Sompele S; Smith C; Karali M; Corton M; Van Schil K; Peelman F; Cherry T; Rosseel T; Verdin H; Derolez J; Van Laethem T; Khan KN; McKibbin M; Toomes C; Ali M; Torella A; Testa F; Jimenez B; Simonelli F; De Zaeytijd J; Van den Ende J; Leroy BP; Coppieters F; Ayuso C; Inglehearn CF; Banfi S; De Baere E
    Genet Med; 2019 Jun; 21(6):1319-1329. PubMed ID: 30377383
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Evaluation of the common variants of the ABCA4 gene in families with Stargardt disease and autosomal recessive retinitis pigmentosa.
    Shastry BS
    Int J Mol Med; 2008 Jun; 21(6):715-20. PubMed ID: 18506364
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Extending the Spectrum of EYS-Associated Retinal Disease to Macular Dystrophy.
    Pierrache LHM; Messchaert M; Thiadens AAHJ; Haer-Wigman L; de Jong-Hesse Y; van Zelst-Stams WAG; Collin RWJ; Klaver CCW; van den Born LI
    Invest Ophthalmol Vis Sci; 2019 May; 60(6):2049-2063. PubMed ID: 31074760
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly).
    Katagiri S; Hayashi T; Mizobuchi K; Yoshitake K; Iwata T; Nakano T
    Ophthalmic Genet; 2018 Jun; 39(3):357-365. PubMed ID: 29630435
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.
    Arno G; Agrawal SA; Eblimit A; Bellingham J; Xu M; Wang F; Chakarova C; Parfitt DA; Lane A; Burgoyne T; Hull S; Carss KJ; Fiorentino A; Hayes MJ; Munro PM; Nicols R; Pontikos N; Holder GE; ; Asomugha C; Raymond FL; Moore AT; Plagnol V; Michaelides M; Hardcastle AJ; Li Y; Cukras C; Webster AR; Cheetham ME; Chen R
    Am J Hum Genet; 2016 Dec; 99(6):1305-1315. PubMed ID: 27889058
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.
    Bandah-Rozenfeld D; Collin RW; Banin E; van den Born LI; Coene KL; Siemiatkowska AM; Zelinger L; Khan MI; Lefeber DJ; Erdinest I; Testa F; Simonelli F; Voesenek K; Blokland EA; Strom TM; Klaver CC; Qamar R; Banfi S; Cremers FP; Sharon D; den Hollander AI
    Am J Hum Genet; 2010 Aug; 87(2):199-208. PubMed ID: 20673862
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions.
    Brandl C; Schulz HL; Charbel Issa P; Birtel J; Bergholz R; Lange C; Dahlke C; Zobor D; Weber BHF; Stöhr H
    Genes (Basel); 2017 Jun; 8(7):. PubMed ID: 28644393
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.