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 *

188 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 10.