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Journal Abstract Search

308 related items for PubMed ID: 16543197

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  • 4. Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.
    den Hollander AI, Lopez I, Yzer S, Zonneveld MN, Janssen IM, Strom TM, Hehir-Kwa JY, Veltman JA, Arends ML, Meitinger T, Musarella MA, van den Born LI, Fishman GA, Maumenee IH, Rohrschneider K, Cremers FP, Koenekoop RK.
    Invest Ophthalmol Vis Sci; 2007 Dec; 48(12):5690-8. PubMed ID: 18055821
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  • 5. 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; 48(12):5653-61. PubMed ID: 18055816
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  • 6. Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.
    Mataftsi A, Schorderet DF, Chachoua L, Boussalah M, Nouri MT, Barthelmes D, Borruat FX, Munier FL.
    Invest Ophthalmol Vis Sci; 2007 Nov; 48(11):5160-7. PubMed ID: 17962469
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  • 7. Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene.
    Acar C, Mears AJ, Yashar BM, Maheshwary AS, Andreasson S, Baldi A, Sieving PA, Iannaccone A, Musarella MA, Jacobson SG, Swaroop A.
    Mol Vis; 2003 Jan 24; 9():14-7. PubMed ID: 12552256
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  • 8. Report of a novel mutation in CRB1 in a Lebanese family presenting retinal dystrophy.
    Jalkh N, Guissart C, Chouery E, Yammine T, El Ali N, Farah HA, Mégarbané A.
    Ophthalmic Genet; 2014 Mar 24; 35(1):57-62. PubMed ID: 23362850
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  • 9. 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 24; 42(11):e67. PubMed ID: 16272259
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  • 11. Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.
    Zernant J, Külm M, Dharmaraj S, den Hollander AI, Perrault I, Preising MN, Lorenz B, Kaplan J, Cremers FP, Maumenee I, Koenekoop RK, Allikmets R.
    Invest Ophthalmol Vis Sci; 2005 Sep 24; 46(9):3052-9. PubMed ID: 16123401
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  • 12. Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis.
    Rivolta C, Ayyagari R, Sieving PA, Berson EL, Dryja TP.
    Mol Vis; 2003 Feb 18; 9():49-51. PubMed ID: 12592226
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  • 13. CRB1 gene mutations are associated with keratoconus in patients with leber congenital amaurosis.
    McMahon TT, Kim LS, Fishman GA, Stone EM, Zhao XC, Yee RW, Malicki J.
    Invest Ophthalmol Vis Sci; 2009 Jul 18; 50(7):3185-7. PubMed ID: 19407021
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  • 14. 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
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  • 15. Clinical phenotypes in carriers of Leber congenital amaurosis mutations.
    Galvin JA, Fishman GA, Stone EM, Koenekoop RK.
    Ophthalmology; 2005 Feb 15; 112(2):349-56. PubMed ID: 15691574
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  • 16. Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
    Hanein S, Perrault I, Gerber S, Tanguy G, Barbet F, Ducroq D, Calvas P, Dollfus H, Hamel C, Lopponen T, Munier F, Santos L, Shalev S, Zafeiriou D, Dufier JL, Munnich A, Rozet JM, Kaplan J.
    Hum Mutat; 2004 Apr 15; 23(4):306-17. PubMed ID: 15024725
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  • 17. 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
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  • 18. Leber congenital amaurosis: genes, proteins and disease mechanisms.
    den Hollander AI, Roepman R, Koenekoop RK, Cremers FP.
    Prog Retin Eye Res; 2008 Jul 01; 27(4):391-419. PubMed ID: 18632300
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  • 19. 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 01; 46(1):322-8. PubMed ID: 15623792
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  • 20. A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis.
    Gerber S, Perrault I, Hanein S, Shalev S, Zlotogora J, Barbet F, Ducroq D, Dufier J, Munnich A, Rozet J, Kaplan J.
    Ophthalmic Genet; 2002 Dec 01; 23(4):225-35. PubMed ID: 12567265
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