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442 related items for PubMed ID: 15459956

  • 1. CRB1 mutation spectrum in inherited retinal dystrophies.
    den Hollander AI, Davis J, van der Velde-Visser SD, Zonneveld MN, Pierrottet CO, Koenekoop RK, Kellner U, van den Born LI, Heckenlively JR, Hoyng CB, Handford PA, Roepman R, Cremers FP.
    Hum Mutat; 2004 Nov; 24(5):355-69. PubMed ID: 15459956
    [Abstract] [Full Text] [Related]

  • 2. Mutations in CRB1 are a relatively common cause of autosomal recessive early-onset retinal degeneration in the Israeli and Palestinian populations.
    Beryozkin A, Zelinger L, Bandah-Rozenfeld D, Harel A, Strom TA, Merin S, Chowers I, Banin E, Sharon D.
    Invest Ophthalmol Vis Sci; 2013 Mar 01; 54(3):2068-75. PubMed ID: 23449718
    [Abstract] [Full Text] [Related]

  • 3. CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of leber congenital amaurosis.
    Yzer S, Fishman GA, Racine J, Al-Zuhaibi S, Chakor H, Dorfman A, Szlyk J, Lachapelle P, van den Born LI, Allikmets R, Lopez I, Cremers FP, Koenekoop RK.
    Invest Ophthalmol Vis Sci; 2006 Sep 01; 47(9):3736-44. PubMed ID: 16936081
    [Abstract] [Full Text] [Related]

  • 4. A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis.
    Abouzeid H, Li Y, Maumenee IH, Dharmaraj S, Sundin O.
    Ophthalmic Genet; 2006 Mar 01; 27(1):15-20. PubMed ID: 16543197
    [Abstract] [Full Text] [Related]

  • 5. CRB1 mutations in inherited retinal dystrophies.
    Bujakowska K, Audo I, Mohand-Saïd S, Lancelot ME, Antonio A, Germain A, Léveillard T, Letexier M, Saraiva JP, Lonjou C, Carpentier W, Sahel JA, Bhattacharya SS, Zeitz C.
    Hum Mutat; 2012 Feb 01; 33(2):306-15. PubMed ID: 22065545
    [Abstract] [Full Text] [Related]

  • 6. CRB2 acts as a modifying factor of CRB1-related retinal dystrophies in mice.
    Pellissier LP, Lundvig DM, Tanimoto N, Klooster J, Vos RM, Richard F, Sothilingam V, Garcia Garrido M, Le Bivic A, Seeliger MW, Wijnholds J.
    Hum Mol Genet; 2014 Jul 15; 23(14):3759-71. PubMed ID: 24565864
    [Abstract] [Full Text] [Related]

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  • 8. Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1.
    Henderson RH, Mackay DS, Li Z, Moradi P, Sergouniotis P, Russell-Eggitt I, Thompson DA, Robson AG, Holder GE, Webster AR, Moore AT.
    Br J Ophthalmol; 2011 Jun 15; 95(6):811-7. PubMed ID: 20956273
    [Abstract] [Full Text] [Related]

  • 9. The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes.
    Motta FL, Salles MV, Costa KA, Filippelli-Silva R, Martin RP, Sallum JMF.
    Sci Rep; 2017 Aug 17; 7(1):8654. PubMed ID: 28819299
    [Abstract] [Full Text] [Related]

  • 10. Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene.
    den Hollander AI, Heckenlively JR, van den Born LI, de Kok YJ, van der Velde-Visser SD, Kellner U, Jurklies B, van Schooneveld MJ, Blankenagel A, Rohrschneider K, Wissinger B, Cruysberg JR, Deutman AF, Brunner HG, Apfelstedt-Sylla E, Hoyng CB, Cremers FP.
    Am J Hum Genet; 2001 Jul 17; 69(1):198-203. PubMed ID: 11389483
    [Abstract] [Full Text] [Related]

  • 11. MPP5 recruits MPP4 to the CRB1 complex in photoreceptors.
    Kantardzhieva A, Gosens I, Alexeeva S, Punte IM, Versteeg I, Krieger E, Neefjes-Mol CA, den Hollander AI, Letteboer SJ, Klooster J, Cremers FP, Roepman R, Wijnholds J.
    Invest Ophthalmol Vis Sci; 2005 Jun 17; 46(6):2192-201. PubMed ID: 15914641
    [Abstract] [Full Text] [Related]

  • 12. [Role of Crumbs proteins in the control of epithelial cell and photoreceptor morphogenesis].
    Lemmers C, Médina E, Lane-Guermonprez L, Arsanto JP, Le Bivic A.
    Med Sci (Paris); 2004 Jun 17; 20(6-7):663-7. PubMed ID: 15329816
    [Abstract] [Full Text] [Related]

  • 13. Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray.
    Vallespin E, Cantalapiedra D, Riveiro-Alvarez R, Wilke R, Aguirre-Lamban J, Avila-Fernandez A, Lopez-Martinez MA, Gimenez A, Trujillo-Tiebas MJ, Ramos C, Ayuso C.
    Invest Ophthalmol Vis Sci; 2007 Dec 17; 48(12):5653-61. PubMed ID: 18055816
    [Abstract] [Full Text] [Related]

  • 14. Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene.
    McKay GJ, Clarke S, Davis JA, Simpson DA, Silvestri G.
    Invest Ophthalmol Vis Sci; 2005 Jan 17; 46(1):322-8. PubMed ID: 15623792
    [Abstract] [Full Text] [Related]

  • 15. Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa.
    Booij JC, Florijn RJ, ten Brink JB, Loves W, Meire F, van Schooneveld MJ, de Jong PT, Bergen AA.
    J Med Genet; 2005 Nov 17; 42(11):e67. PubMed ID: 16272259
    [Abstract] [Full Text] [Related]

  • 16. Detection of CRB1 mutations in families with retinal dystrophy through phenotype-oriented mutational screening.
    Li S, Shen T, Xiao X, Guo X, Zhang Q.
    Int J Mol Med; 2014 Apr 17; 33(4):913-8. PubMed ID: 24535598
    [Abstract] [Full Text] [Related]

  • 17. Pals1/Mpp5 is required for correct localization of Crb1 at the subapical region in polarized Muller glia cells.
    van Rossum AG, Aartsen WM, Meuleman J, Klooster J, Malysheva A, Versteeg I, Arsanto JP, Le Bivic A, Wijnholds J.
    Hum Mol Genet; 2006 Sep 15; 15(18):2659-72. PubMed ID: 16885194
    [Abstract] [Full Text] [Related]

  • 18. Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis.
    van den Hurk JA, Rashbass P, Roepman R, Davis J, Voesenek KE, Arends ML, Zonneveld MN, van Roekel MH, Cameron K, Rohrschneider K, Heckenlively JR, Koenekoop RK, Hoyng CB, Cremers FP, den Hollander AI.
    Mol Vis; 2005 Apr 15; 11():263-73. PubMed ID: 15851977
    [Abstract] [Full Text] [Related]

  • 19. Coat's like vasculopathy in leber congenital amaurosis secondary to homozygous mutations in CRB1: a case report and discussion of the management options.
    Hasan SM, Azmeh A, Mostafa O, Megarbane A.
    BMC Res Notes; 2016 Feb 13; 9():91. PubMed ID: 26872607
    [Abstract] [Full Text] [Related]

  • 20. CRB1-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms.
    Mairot K, Smirnov V, Bocquet B, Labesse G, Arndt C, Defoort-Dhellemmes S, Zanlonghi X, Hamroun D, Denis D, Picot MC, David T, Grunewald O, Pégart M, Huguet H, Roux AF, Kalatzis V, Dhaenens CM, Meunier I.
    Int J Mol Sci; 2021 Nov 23; 22(23):. PubMed ID: 34884448
    [Abstract] [Full Text] [Related]

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