BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

171 related articles for article (PubMed ID: 15761389)

  • 1. Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness.
    Zeitz C; Minotti R; Feil S; Mátyás G; Cremers FP; Hoyng CB; Berger W
    Mol Vis; 2005 Mar; 11():179-83. PubMed ID: 15761389
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Novel CACNA1F mutations in Japanese patients with incomplete congenital stationary night blindness.
    Nakamura M; Ito S; Terasaki H; Miyake Y
    Invest Ophthalmol Vis Sci; 2001 Jun; 42(7):1610-6. PubMed ID: 11381068
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Genotyping microarray for CSNB-associated genes.
    Zeitz C; Labs S; Lorenz B; Forster U; Uksti J; Kroes HY; De Baere E; Leroy BP; Cremers FP; Wittmer M; van Genderen MM; Sahel JA; Audo I; Poloschek CM; Mohand-Saïd S; Fleischhauer JC; Hüffmeier U; Moskova-Doumanova V; Levin AV; Hamel CP; Leifert D; Munier FL; Schorderet DF; Zrenner E; Friedburg C; Wissinger B; Kohl S; Berger W
    Invest Ophthalmol Vis Sci; 2009 Dec; 50(12):5919-26. PubMed ID: 19578023
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Mutation screening of TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindness.
    Wang Q; Gao Y; Li S; Guo X; Zhang Q
    Int J Mol Med; 2012 Sep; 30(3):521-6. PubMed ID: 22735794
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel CACNA1F gene mutation causes Aland Island eye disease.
    Jalkanen R; Bech-Hansen NT; Tobias R; Sankila EM; Mäntyjärvi M; Forsius H; de la Chapelle A; Alitalo T
    Invest Ophthalmol Vis Sci; 2007 Jun; 48(6):2498-502. PubMed ID: 17525176
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.
    Wutz K; Sauer C; Zrenner E; Lorenz B; Alitalo T; Broghammer M; Hergersberg M; de la Chapelle A; Weber BH; Wissinger B; Meindl A; Pusch CM
    Eur J Hum Genet; 2002 Aug; 10(8):449-56. PubMed ID: 12111638
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.
    Vincent A; Wright T; Day MA; Westall CA; Héon E
    Mol Vis; 2011; 17():3262-70. PubMed ID: 22194652
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutations in the CACNA1F and NYX genes in British CSNBX families.
    Zito I; Allen LE; Patel RJ; Meindl A; Bradshaw K; Yates JR; Bird AC; Erskine L; Cheetham ME; Webster AR; Poopalasundaram S; Moore AT; Trump D; Hardcastle AJ
    Hum Mutat; 2003 Feb; 21(2):169. PubMed ID: 12552565
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene.
    Jacobi FK; Andréasson S; Langrova H; Meindl A; Zrenner E; Apfelstedt-Sylla E; Pusch CM
    Graefes Arch Clin Exp Ophthalmol; 2002 Oct; 240(10):822-8. PubMed ID: 12397430
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein.
    Pusch CM; Zeitz C; Brandau O; Pesch K; Achatz H; Feil S; Scharfe C; Maurer J; Jacobi FK; Pinckers A; Andreasson S; Hardcastle A; Wissinger B; Berger W; Meindl A
    Nat Genet; 2000 Nov; 26(3):324-7. PubMed ID: 11062472
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genotype-phenotype correlation in British families with X linked congenital stationary night blindness.
    Allen LE; Zito I; Bradshaw K; Patel RJ; Bird AC; Fitzke F; Yates JR; Trump D; Hardcastle AJ; Moore AT
    Br J Ophthalmol; 2003 Nov; 87(11):1413-20. PubMed ID: 14609846
    [TBL] [Abstract][Full Text] [Related]  

  • 15. An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.
    Strom TM; Nyakatura G; Apfelstedt-Sylla E; Hellebrand H; Lorenz B; Weber BH; Wutz K; Gutwillinger N; Rüther K; Drescher B; Sauer C; Zrenner E; Meitinger T; Rosenthal A; Meindl A
    Nat Genet; 1998 Jul; 19(3):260-3. PubMed ID: 9662399
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Slow and fast rod ERG pathways in patients with X-linked complete stationary night blindness carrying mutations in the NYX gene.
    Scholl HP; Langrová H; Pusch CM; Wissinger B; Zrenner E; Apfelstedt-Sylla E
    Invest Ophthalmol Vis Sci; 2001 Oct; 42(11):2728-36. PubMed ID: 11581222
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Primate Retinal Signaling Pathways: Suppressing ON-Pathway Activity in Monkey With Glutamate Analogues Mimics Human CSNB1-NYX Genetic Night Blindness.
    Khan NW; Kondo M; Hiriyanna KT; Jamison JA; Bush RA; Sieving PA
    J Neurophysiol; 2005 Jan; 93(1):481-92. PubMed ID: 15331616
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness.
    Bech-Hansen NT; Naylor MJ; Maybaum TA; Sparkes RL; Koop B; Birch DG; Bergen AA; Prinsen CF; Polomeno RC; Gal A; Drack AV; Musarella MA; Jacobson SG; Young RS; Weleber RG
    Nat Genet; 2000 Nov; 26(3):319-23. PubMed ID: 11062471
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Establishment of the concept of new clinical entities--complete and incomplete form of congenital stationary night blindness].
    Miyake Y
    Nippon Ganka Gakkai Zasshi; 2002 Dec; 106(12):737-55; discussion 756. PubMed ID: 12610835
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.
    Bech-Hansen NT; Naylor MJ; Maybaum TA; Pearce WG; Koop B; Fishman GA; Mets M; Musarella MA; Boycott KM
    Nat Genet; 1998 Jul; 19(3):264-7. PubMed ID: 9662400
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.