BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

197 related articles for article (PubMed ID: 20533046)

  • 1. [Achromatopsia].
    Poloschek CM; Kohl S
    Ophthalmologe; 2010 Jun; 107(6):571-80; quiz 581-2. PubMed ID: 20533046
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia.
    Azam M; Collin RW; Shah ST; Shah AA; Khan MI; Hussain A; Sadeque A; Strom TM; Thiadens AA; Roosing S; den Hollander AI; Cremers FP; Qamar R
    Mol Vis; 2010 Apr; 16():774-81. PubMed ID: 20454696
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Oligocone trichromacy: clinical and molecular genetic investigations.
    Andersen MK; Christoffersen NL; Sander B; Edmund C; Larsen M; Grau T; Wissinger B; Kohl S; Rosenberg T
    Invest Ophthalmol Vis Sci; 2010 Jan; 51(1):89-95. PubMed ID: 19797231
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Progressive cone dystrophy associated with mutation in CNGB3.
    Michaelides M; Aligianis IA; Ainsworth JR; Good P; Mollon JD; Maher ER; Moore AT; Hunt DM
    Invest Ophthalmol Vis Sci; 2004 Jun; 45(6):1975-82. PubMed ID: 15161866
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Optical coherence tomography in the diagnosis of achromatopsia].
    Burgueño-Montañés C; Colunga-Cueva M
    Arch Soc Esp Oftalmol; 2014 Feb; 89(2):70-3. PubMed ID: 24269402
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel mutations in the gene for α-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia.
    Kuniyoshi K; Muraki-Oda S; Ueyama H; Toyoda F; Sakuramoto H; Ogita H; Irifune M; Yamamoto S; Nakao A; Tsunoda K; Iwata T; Ohji M; Shimomura Y
    Jpn J Ophthalmol; 2016 May; 60(3):187-97. PubMed ID: 27040408
    [TBL] [Abstract][Full Text] [Related]  

  • 7. REPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIA.
    Langlo CS; Erker LR; Parker M; Patterson EJ; Higgins BP; Summerfelt P; Razeen MM; Collison FT; Fishman GA; Kay CN; Zhang J; Weleber RG; Yang P; Pennesi ME; Lam BL; Chulay JD; Dubra A; Hauswirth WW; Wilson DJ; Carroll J;
    Retina; 2017 Oct; 37(10):1956-1966. PubMed ID: 28145975
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Complete achromatopsia associated with skeletal anomalies: a new autosomal recessive syndrome.
    García-Ortiz JE; García-Cruz D; Mendoza-Topete R; Quiroz-Mercado H; García-Cruz MO; Sánchez-Corona J
    Genet Couns; 2004; 15(4):455-61. PubMed ID: 15658622
    [TBL] [Abstract][Full Text] [Related]  

  • 9. CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.
    Mayer AK; Van Cauwenbergh C; Rother C; Baumann B; Reuter P; De Baere E; Wissinger B; Kohl S;
    Hum Mutat; 2017 Nov; 38(11):1579-1591. PubMed ID: 28795510
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy.
    Thiadens AA; Roosing S; Collin RW; van Moll-Ramirez N; van Lith-Verhoeven JJ; van Schooneveld MJ; den Hollander AI; van den Born LI; Hoyng CB; Cremers FP; Klaver CC
    Ophthalmology; 2010 Apr; 117(4):825-30.e1. PubMed ID: 20079539
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Establishing baseline rod electroretinogram values in achromatopsia and cone dystrophy.
    Wang I; Khan NW; Branham K; Wissinger B; Kohl S; Heckenlively JR
    Doc Ophthalmol; 2012 Dec; 125(3):229-33. PubMed ID: 22903242
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Rod Monochromatism (Achromatopsia).
    Tsang SH; Sharma T
    Adv Exp Med Biol; 2018; 1085():119-123. PubMed ID: 30578497
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genetic basis of total colourblindness among the Pingelapese islanders.
    Sundin OH; Yang JM; Li Y; Zhu D; Hurd JN; Mitchell TN; Silva ED; Maumenee IH
    Nat Genet; 2000 Jul; 25(3):289-93. PubMed ID: 10888875
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Differential diagnosis of cone dystrophies].
    Sadowski B; Zrenner E
    Ophthalmologe; 1994 Dec; 91(6):719-29. PubMed ID: 7849422
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel CNGA3 mutations in Chinese patients with achromatopsia.
    Liang X; Dong F; Li H; Li H; Yang L; Sui R
    Br J Ophthalmol; 2015 Apr; 99(4):571-6. PubMed ID: 25637600
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of Novel Mutation in CNGA3 gene by Whole-Exome Sequencing and In-Silico Analyses for Genotype-Phenotype Assessment with Autosomal Recessive Achromatopsia in Pakistani families.
    Arshad MW; Lee Y; Malik MA; Khan J; Khan A; Kareem A; Kang C; Shabbir MI
    J Pak Med Assoc; 2019 Feb; 69(2):183-189. PubMed ID: 30804581
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Safety and Vision Outcomes of Subretinal Gene Therapy Targeting Cone Photoreceptors in Achromatopsia: A Nonrandomized Controlled Trial.
    Fischer MD; Michalakis S; Wilhelm B; Zobor D; Muehlfriedel R; Kohl S; Weisschuh N; Ochakovski GA; Klein R; Schoen C; Sothilingam V; Garcia-Garrido M; Kuehlewein L; Kahle N; Werner A; Dauletbekov D; Paquet-Durand F; Tsang S; Martus P; Peters T; Seeliger M; Bartz-Schmidt KU; Ueffing M; Zrenner E; Biel M; Wissinger B
    JAMA Ophthalmol; 2020 Jun; 138(6):643-651. PubMed ID: 32352493
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Blue cone monochromasia: diagnosis, genetic counseling and optical aids].
    Zrenner E; Magnussen S; Lorenz B
    Klin Monbl Augenheilkd; 1988 Nov; 193(5):510-7. PubMed ID: 3264866
    [TBL] [Abstract][Full Text] [Related]  

  • 19. ["Oligocone" trichromasy, a rare form of incomplete achromatopsia].
    Ehlich P; Sadowski B; Zrenner E
    Ophthalmologe; 1997 Nov; 94(11):801-6. PubMed ID: 9465713
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 10.