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 *

137 related articles for article (PubMed ID: 32397729)

  • 1. Molecular genetic cause of achromatopsia in two patients of Czech origin.
    Hlavatá L; Ďuďáková Ľ; Moravíková J; Zobanová A; Kousal B; Lišková P
    Cesk Slov Oftalmol; 2019; 75(5):272-276. PubMed ID: 32397729
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. A deep intronic substitution in
    Aweidah H; Salameh M; Yahalom C; Blumenfeld A; Macarov M; Weisschuh N; Kohl S; Banin E; Sharon D
    Mol Vis; 2021; 27():588-600. PubMed ID: 34703197
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Retinal morphology of patients with achromatopsia during early childhood: implications for gene therapy.
    Yang P; Michaels KV; Courtney RJ; Wen Y; Greninger DA; Reznick L; Karr DJ; Wilson LB; Weleber RG; Pennesi ME
    JAMA Ophthalmol; 2014 Jul; 132(7):823-31. PubMed ID: 24676353
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Five novel CNGB3 gene mutations in Polish patients with achromatopsia.
    Wawrocka A; Kohl S; Baumann B; Walczak-Sztulpa J; Wicher K; Skorczyk-Werner A; Krawczynski MR
    Mol Vis; 2014; 20():1732-9. PubMed ID: 25558176
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.
    Kohl S; Baumann B; Broghammer M; Jägle H; Sieving P; Kellner U; Spegal R; Anastasi M; Zrenner E; Sharpe LT; Wissinger B
    Hum Mol Genet; 2000 Sep; 9(14):2107-16. PubMed ID: 10958649
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Spectral domain optical coherence tomography findings in CNGB3-associated achromatopsia and therapeutic implications.
    McClintock M; Peden MC; Kay CN
    Adv Exp Med Biol; 2014; 801():551-7. PubMed ID: 24664743
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
    Kohl S; Varsanyi B; Antunes GA; Baumann B; Hoyng CB; Jägle H; Rosenberg T; Kellner U; Lorenz B; Salati R; Jurklies B; Farkas A; Andreasson S; Weleber RG; Jacobson SG; Rudolph G; Castellan C; Dollfus H; Legius E; Anastasi M; Bitoun P; Lev D; Sieving PA; Munier FL; Zrenner E; Sharpe LT; Cremers FP; Wissinger B
    Eur J Hum Genet; 2005 Mar; 13(3):302-8. PubMed ID: 15657609
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical and genetic features of Hungarian achromatopsia patients.
    Varsányi B; Wissinger B; Kohl S; Koeppen K; Farkas A
    Mol Vis; 2005 Nov; 11():996-1001. PubMed ID: 16319819
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy.
    Zelinger L; Cideciyan AV; Kohl S; Schwartz SB; Rosenmann A; Eli D; Sumaroka A; Roman AJ; Luo X; Brown C; Rosin B; Blumenfeld A; Wissinger B; Jacobson SG; Banin E; Sharon D
    Ophthalmology; 2015 May; 122(5):997-1007. PubMed ID: 25616768
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study.
    Brunetti-Pierri R; Karali M; Melillo P; Di Iorio V; De Benedictis A; Iaccarino G; Testa F; Banfi S; Simonelli F
    Int J Mol Sci; 2021 Feb; 22(4):. PubMed ID: 33562422
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia.
    Goto-Omoto S; Hayashi T; Gekka T; Kubo A; Takeuchi T; Kitahara K
    Vis Neurosci; 2006; 23(3-4):395-402. PubMed ID: 16961972
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Molecular and clinical characterization of Thai patients with achromatopsia: identification of three novel disease-associated variants in the CNGA3 and CNGB3 genes.
    Jinda W; Tuekprakhon A; Thongnoppakhun W; Limwongse C; Trinavarat A; Atchaneeyasakul LO
    Int Ophthalmol; 2021 Jan; 41(1):121-134. PubMed ID: 32869108
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Gene Therapy for Achromatopsia.
    Baxter MF; Borchert GA
    Int J Mol Sci; 2024 Sep; 25(17):. PubMed ID: 39273686
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.