BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

149 related articles for article (PubMed ID: 34781300)

  • 1. Genetic Analysis of Consanguineous Pakistani Families with Congenital Stationary Night Blindness.
    Azhar Baig HM; Ansar M; Iqbal A; Naeem MA; Quinodoz M; Calzetti G; Iqbal M; Rivolta C
    Ophthalmic Res; 2022; 65(1):104-110. PubMed ID: 34781300
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness.
    Naeem MA; Gottsch AD; Ullah I; Khan SN; Husnain T; Butt NH; Qazi ZA; Akram J; Riazuddin S; Ayyagari R; Hejtmancik JF; Riazuddin SA
    Mol Vis; 2015; 21():1261-71. PubMed ID: 26628857
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutation screening of the LRIT3, CABP4, and GPR179 genes in Chinese patients with Schubert-Bornschein congenital stationary night blindness.
    Dan H; Song X; Li J; Xing Y; Li T
    Ophthalmic Genet; 2017; 38(3):206-210. PubMed ID: 27428514
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Congenital stationary night blindness: an update and review of the disease spectrum in Saudi Arabia.
    Almutairi F; Almeshari N; Ahmad K; Magliyah MS; Schatz P
    Acta Ophthalmol; 2021 Sep; 99(6):581-591. PubMed ID: 33369259
    [TBL] [Abstract][Full Text] [Related]  

  • 6. GNAT1 associated with autosomal recessive congenital stationary night blindness.
    Naeem MA; Chavali VR; Ali S; Iqbal M; Riazuddin S; Khan SN; Husnain T; Sieving PA; Ayyagari R; Riazuddin S; Hejtmancik JF; Riazuddin SA
    Invest Ophthalmol Vis Sci; 2012 Mar; 53(3):1353-61. PubMed ID: 22190596
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8.
    Scanga HL; Liasis A; Pihlblad MS; Nischal KK
    Ophthalmic Genet; 2021 Oct; 42(5):588-592. PubMed ID: 34165036
    [No Abstract]   [Full Text] [Related]  

  • 9. Molecular profiling of complete congenital stationary night blindness: a pilot study on an Indian cohort.
    Malaichamy S; Sen P; Sachidanandam R; Arokiasamy T; Lancelot ME; Audo I; Zeitz C; Soumittra N
    Mol Vis; 2014; 20():341-51. PubMed ID: 24715752
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.
    Vincent A; Audo I; Tavares E; Maynes JT; Tumber A; Wright T; Li S; Michiels C; ; Condroyer C; MacDonald H; Verdet R; Sahel JA; Hamel CP; Zeitz C; Héon E
    Am J Hum Genet; 2016 May; 98(5):1011-1019. PubMed ID: 27063057
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families.
    Ajmal M; Khan MI; Neveling K; Khan YM; Ali SH; Ahmed W; Iqbal MS; Azam M; den Hollander AI; Collin RW; Qamar R; Cremers FP
    Mol Vis; 2012; 18():1558-71. PubMed ID: 22736946
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel frameshift mutation in
    Ivanova ME; Zolnikova IV; Gorgisheli KV; Atarshchikov DS; Ghosh P; Barh D
    Ophthalmic Genet; 2019 Dec; 40(6):558-563. PubMed ID: 31826698
    [No Abstract]   [Full Text] [Related]  

  • 13. Congenital stationary night blindness with hypoplastic discs, negative electroretinogram and thinning of the inner nuclear layer.
    Al Oreany AA; Al Hadlaq A; Schatz P
    Graefes Arch Clin Exp Ophthalmol; 2016 Oct; 254(10):1951-1956. PubMed ID: 27084085
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutations in NYX of individuals with high myopia, but without night blindness.
    Zhang Q; Xiao X; Li S; Jia X; Yang Z; Huang S; Caruso RC; Guan T; Sergeev Y; Guo X; Hejtmancik JF
    Mol Vis; 2007 Mar; 13():330-6. PubMed ID: 17392683
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.
    Bijveld MM; Florijn RJ; Bergen AA; van den Born LI; Kamermans M; Prick L; Riemslag FC; van Schooneveld MJ; Kappers AM; van Genderen MM
    Ophthalmology; 2013 Oct; 120(10):2072-81. PubMed ID: 23714322
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A common NYX mutation in Flemish patients with X linked CSNB.
    Leroy BP; Budde BS; Wittmer M; De Baere E; Berger W; Zeitz C
    Br J Ophthalmol; 2009 May; 93(5):692-6. PubMed ID: 18617546
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. Riggs-type dominant congenital stationary night blindness: ERG findings, a new GNAT1 mutation and a systemic association.
    Marmor MF; Zeitz C
    Doc Ophthalmol; 2018 Aug; 137(1):57-62. PubMed ID: 30051303
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness.
    Dai S; Ying M; Wang K; Wang L; Han R; Hao P; Li N
    Sci Rep; 2015 Aug; 5():12679. PubMed ID: 26234941
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.