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 *

239 related articles for article (PubMed ID: 32881472)

  • 21. Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness.
    Neuillé M; Malaichamy S; Vadalà M; Michiels C; Condroyer C; Sachidanandam R; Srilekha S; Arokiasamy T; Letexier M; Démontant V; Sahel JA; Sen P; Audo I; Soumittra N; Zeitz C
    Clin Genet; 2016 Jun; 89(6):690-9. PubMed ID: 26822852
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.
    Sangermano R; Garanto A; Khan M; Runhart EH; Bauwens M; Bax NM; van den Born LI; Khan MI; Cornelis SS; Verheij JBGM; Pott JR; Thiadens AAHJ; Klaver CCW; Puech B; Meunier I; Naessens S; Arno G; Fakin A; Carss KJ; Raymond FL; Webster AR; Dhaenens CM; Stöhr H; Grassmann F; Weber BHF; Hoyng CB; De Baere E; Albert S; Collin RWJ; Cremers FPM
    Genet Med; 2019 Aug; 21(8):1751-1760. PubMed ID: 30643219
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Association of Missense Variants in VSX2 With a Peculiar Form of Congenital Stationary Night Blindness Affecting All Bipolar Cells.
    Smirnov VM; Robert MP; Condroyer C; Navarro J; Antonio A; Rozet JM; Sahel JA; Perrault I; Audo I; Zeitz C
    JAMA Ophthalmol; 2022 Dec; 140(12):1163-1173. PubMed ID: 36264558
    [TBL] [Abstract][Full Text] [Related]  

  • 24. ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.
    Bauwens M; Garanto A; Sangermano R; Naessens S; Weisschuh N; De Zaeytijd J; Khan M; Sadler F; Balikova I; Van Cauwenbergh C; Rosseel T; Bauwens J; De Leeneer K; De Jaegere S; Van Laethem T; De Vries M; Carss K; Arno G; Fakin A; Webster AR; de Ravel de l'Argentière TJL; Sznajer Y; Vuylsteke M; Kohl S; Wissinger B; Cherry T; Collin RWJ; Cremers FPM; Leroy BP; De Baere E
    Genet Med; 2019 Aug; 21(8):1761-1771. PubMed ID: 30670881
    [TBL] [Abstract][Full Text] [Related]  

  • 25. A novel mutation in the NR2E3 gene associated with Goldmann-Favre syndrome and vasoproliferative tumor of the retina.
    Manayath GJ; Namburi P; Periasamy S; Kale JA; Narendran V; Ganesh A
    Mol Vis; 2014; 20():724-31. PubMed ID: 24891813
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Differential dimerization of variants linked to enhanced S-cone sensitivity syndrome (ESCS) located in the NR2E3 ligand-binding domain.
    von Alpen D; Tran HV; Guex N; Venturini G; Munier FL; Schorderet DF; Haider NB; Escher P
    Hum Mutat; 2015 Jun; 36(6):599-610. PubMed ID: 25703721
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Clinical features and molecular genetics of patients with ABCA4-retinal dystrophies.
    Holtan JP; Aukrust I; Jansson RW; Berland S; Bruland O; Gjerde BL; Stokowy T; Bojovic O; Forsaa V; Austeng D; Rødahl E; Bredrup C; Knappskog PM; Bragadóttir R
    Acta Ophthalmol; 2021 Aug; 99(5):e733-e746. PubMed ID: 33258285
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Homozygosity for a Recessive Loss-of-Function Mutation of the NRL Gene Is Associated With a Variant of Enhanced S-Cone Syndrome.
    Newman H; Blumen SC; Braverman I; Hanna R; Tiosano B; Perlman I; Ben-Yosef T
    Invest Ophthalmol Vis Sci; 2016 Oct; 57(13):5361-5371. PubMed ID: 27732723
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Complete congenital stationary night blindness associated with a novel
    Hayashi T; Murakami Y; Mizobuchi K; Koyanagi Y; Sonoda KH; Nakano T
    Ophthalmic Genet; 2021 Aug; 42(4):412-419. PubMed ID: 33769208
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration.
    Sharon D; Sandberg MA; Caruso RC; Berson EL; Dryja TP
    Arch Ophthalmol; 2003 Sep; 121(9):1316-23. PubMed ID: 12963616
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant.
    Bax NM; Sangermano R; Roosing S; Thiadens AA; Hoefsloot LH; van den Born LI; Phan M; Klevering BJ; Westeneng-van Haaften C; Braun TA; Zonneveld-Vrieling MN; de Wijs I; Mutlu M; Stone EM; den Hollander AI; Klaver CC; Hoyng CB; Cremers FP
    Hum Mutat; 2015 Jan; 36(1):43-7. PubMed ID: 25363634
    [TBL] [Abstract][Full Text] [Related]  

  • 32. New truncation mutation of the NR2E3 gene in a Japanese patient with enhanced S-cone syndrome.
    Kuniyoshi K; Hayashi T; Sakuramoto H; Mishima H; Tsuneoka H; Tsunoda K; Iwata T; Shimomura Y
    Jpn J Ophthalmol; 2016 Nov; 60(6):476-485. PubMed ID: 27522502
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants.
    Kousal B; Dudakova L; Gaillyova R; Hejtmankova M; Diblik P; Michaelides M; Liskova P
    Graefes Arch Clin Exp Ophthalmol; 2016 Sep; 254(9):1833-9. PubMed ID: 27113771
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Novel Pathogenic Sequence Variants in
    Al-Khuzaei S; Broadgate S; Halford S; Jolly JK; Shanks M; Clouston P; Downes SM
    Genes (Basel); 2020 Oct; 11(11):. PubMed ID: 33138239
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations.
    AlTalbishi A; Zelinger L; Zeitz C; Hendler K; Namburi P; Audo I; Sheffer R; Yahalom C; Khateb S; Banin E; Sharon D
    Sci Rep; 2019 Aug; 9(1):12047. PubMed ID: 31427709
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. 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]  

  • 39. Nr2e3 functional domain ablation by CRISPR-Cas9D10A identifies a new isoform and generates retinitis pigmentosa and enhanced S-cone syndrome models.
    Aísa-Marín I; López-Iniesta MJ; Milla S; Lillo J; Navarro G; de la Villa P; Marfany G
    Neurobiol Dis; 2020 Dec; 146():105122. PubMed ID: 33007388
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Congenital Stationary Night Blindness: Clinical and Genetic Features.
    Kim AH; Liu PK; Chang YH; Kang EY; Wang HH; Chen N; Tseng YJ; Seo GH; Lee H; Liu L; Chao AN; Chen KJ; Hwang YS; Wu WC; Lai CC; Tsang SH; Hsiao MC; Wang NK
    Int J Mol Sci; 2022 Nov; 23(23):. PubMed ID: 36499293
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 12.