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 *

166 related articles for article (PubMed ID: 30065301)

  • 1. Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy.
    Katagiri S; Iwasa M; Hayashi T; Hosono K; Yamashita T; Kuniyoshi K; Ueno S; Kondo M; Ueyama H; Ogita H; Shichida Y; Inagaki H; Kurahashi H; Kondo H; Ohji M; Hotta Y; Nakano T
    Sci Rep; 2018 Jul; 8(1):11507. PubMed ID: 30065301
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report.
    Buena-Atienza E; Nasser F; Kohl S; Wissinger B
    BMC Med Genet; 2018 Jun; 19(1):107. PubMed ID: 29940872
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The landscape of submicroscopic structural variants at the
    Wissinger B; Baumann B; Buena-Atienza E; Ravesh Z; Cideciyan AV; Stingl K; Audo I; Meunier I; Bocquet B; Traboulsi EI; Hardcastle AJ; Gardner JC; Michaelides M; Branham KE; Rosenberg T; Andreasson S; Dollfus H; Birch D; Vincent AL; Martorell L; Català Mora J; Kellner U; Rüther K; Lorenz B; Preising MN; Manfredini E; Zarate YA; Vijzelaar R; Zrenner E; Jacobson SG; Kohl S
    Proc Natl Acad Sci U S A; 2022 Jul; 119(27):e2115538119. PubMed ID: 35759666
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Human L- and M-opsins restore M-cone function in a mouse model for human blue cone monochromacy.
    Deng WT; Li J; Zhu P; Chiodo VA; Smith WC; Freedman B; Baehr W; Pang J; Hauswirth WW
    Mol Vis; 2018; 24():17-28. PubMed ID: 29386880
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Blue cone monochromacy and gene therapy.
    Sechrest ER; Chmelik K; Tan WD; Deng WT
    Vision Res; 2023 Jul; 208():108221. PubMed ID: 37001420
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel
    Stingl K; Baumann B; De Angeli P; Vincent A; Héon E; Cordonnier M; De Baere E; Raskin S; Sato MT; Shiokawa N; Kohl S; Wissinger B
    Int J Mol Sci; 2022 Jun; 23(12):. PubMed ID: 35743313
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Blue Cone Monochromatism with Foveal Hypoplasia Caused by the Concomitant Effect of Variants in
    Iarossi G; Coppè AM; Passarelli C; Maltese PE; Sinibaldi L; Cappelli A; Cetola S; Novelli A; Buzzonetti L
    Int J Mol Sci; 2021 Aug; 22(16):. PubMed ID: 34445325
    [TBL] [Abstract][Full Text] [Related]  

  • 8. De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy.
    Buena-Atienza E; Rüther K; Baumann B; Bergholz R; Birch D; De Baere E; Dollfus H; Greally MT; Gustavsson P; Hamel CP; Heckenlively JR; Leroy BP; Plomp AS; Pott JW; Rose K; Rosenberg T; Stark Z; Verheij JB; Weleber R; Zobor D; Weisschuh N; Kohl S; Wissinger B
    Sci Rep; 2016 Jun; 6():28253. PubMed ID: 27339364
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Gene Therapy in
    Ma X; Sechrest ER; Fajardo D; Zhu P; Dyka F; Wang Y; Lobanova E; Boye SE; Baehr W; Deng WT
    Hum Gene Ther; 2022 Jul; 33(13-14):708-718. PubMed ID: 35272502
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy.
    Cideciyan AV; Hufnagel RB; Carroll J; Sumaroka A; Luo X; Schwartz SB; Dubra A; Land M; Michaelides M; Gardner JC; Hardcastle AJ; Moore AT; Sisk RA; Ahmed ZM; Kohl S; Wissinger B; Jacobson SG
    Hum Gene Ther; 2013 Dec; 24(12):993-1006. PubMed ID: 24067079
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Bilateral macular atrophy in blue cone monochromacy (BCM) with loss of the locus control region (LCR) and part of the red pigment gene.
    Ayyagari R; Kakuk LE; Coats CL; Bingham EL; Toda Y; Felius J; Sieving PA
    Mol Vis; 1999 Jul; 5():13. PubMed ID: 10427103
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Myopia and Late-Onset Progressive Cone Dystrophy Associate to LVAVA/MVAVA Exon 3 Interchange Haplotypes of Opsin Genes on Chromosome X.
    Orosz O; Rajta I; Vajas A; Takács L; Csutak A; Fodor M; Kolozsvári B; Resch M; Sényi K; Lesch B; Szabó V; Berta A; Balogh I; Losonczy G
    Invest Ophthalmol Vis Sci; 2017 Mar; 58(3):1834-1842. PubMed ID: 28358949
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel mutations in the OPN1LW and NR2R3 genes in a patient with blue cone monochromacy.
    Cai B; Li Z; Sun S; Wang L; Chen L; Yang J; Li X
    Ophthalmic Genet; 2019 Feb; 40(1):43-48. PubMed ID: 30614359
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic.
    Carroll J; Dubra A; Gardner JC; Mizrahi-Meissonnier L; Cooper RF; Dubis AM; Nordgren R; Genead M; Connor TB; Stepien KE; Sharon D; Hunt DM; Banin E; Hardcastle AJ; Moore AT; Williams DR; Fishman G; Neitz J; Neitz M; Michaelides M
    Invest Ophthalmol Vis Sci; 2012 Dec; 53(13):8006-15. PubMed ID: 23139274
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Evaluation of Retinal Structure and Visual Function in Blue Cone Monochromacy to Develop Clinical Endpoints for L-opsin Gene Therapy.
    Cideciyan AV; Roman AJ; Warner RL; Sumaroka A; Wu V; Jiang YY; Swider M; Garafalo AV; Viarbitskaya I; Russell RC; Kohl S; Wissinger B; Ripamonti C; Barbur JL; Bach M; Carroll J; Morgan JIW; Aleman TS
    Int J Mol Sci; 2024 Oct; 25(19):. PubMed ID: 39408969
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Blue cone monochromatism: a phenotype and genotype assessment with evidence of progressive loss of cone function in older individuals.
    Michaelides M; Johnson S; Simunovic MP; Bradshaw K; Holder G; Mollon JD; Moore AT; Hunt DM
    Eye (Lond); 2005 Jan; 19(1):2-10. PubMed ID: 15094734
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants.
    Gardner JC; Liew G; Quan YH; Ermetal B; Ueyama H; Davidson AE; Schwarz N; Kanuga N; Chana R; Maher ER; Webster AR; Holder GE; Robson AG; Cheetham ME; Liebelt J; Ruddle JB; Moore AT; Michaelides M; Hardcastle AJ
    Hum Mutat; 2014 Nov; 35(11):1354-62. PubMed ID: 25168334
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Reduced L- and M- and increased S-cone functions in an infant with thyroid hormone resistance due to mutations in the THRβ2 gene.
    Weiss AH; Kelly JP; Bisset D; Deeb SS
    Ophthalmic Genet; 2012 Dec; 33(4):187-95. PubMed ID: 22551329
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Gene conversion between red and defective green opsin gene in blue cone monochromacy.
    Reyniers E; Van Thienen MN; Meire F; De Boulle K; Devries K; Kestelijn P; Willems PJ
    Genomics; 1995 Sep; 29(2):323-8. PubMed ID: 8666378
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Gene-based Therapy in a Mouse Model of Blue Cone Monochromacy.
    Zhang Y; Deng WT; Du W; Zhu P; Li J; Xu F; Sun J; Gerstner CD; Baehr W; Boye SL; Zhao C; Hauswirth WW; Pang JJ
    Sci Rep; 2017 Jul; 7(1):6690. PubMed ID: 28751656
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.