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263 related items for PubMed ID: 18334942

  • 1. Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa.
    Riveiro-Alvarez R, Vallespin E, Wilke R, Garcia-Sandoval B, Cantalapiedra D, Aguirre-Lamban J, Avila-Fernandez A, Gimenez A, Trujillo-Tiebas MJ, Ayuso C.
    Mol Vis; 2008 Feb 04; 14():262-7. PubMed ID: 18334942
    [Abstract] [Full Text] [Related]

  • 2. Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family.
    Jonsson F, Burstedt MS, Sandgren O, Norberg A, Golovleva I.
    Eur J Hum Genet; 2013 Nov 04; 21(11):1266-71. PubMed ID: 23443024
    [Abstract] [Full Text] [Related]

  • 3. Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.
    Riveiro-Alvarez R, Lopez-Martinez MA, Zernant J, Aguirre-Lamban J, Cantalapiedra D, Avila-Fernandez A, Gimenez A, Lopez-Molina MI, Garcia-Sandoval B, Blanco-Kelly F, Corton M, Tatu S, Fernandez-San Jose P, Trujillo-Tiebas MJ, Ramos C, Allikmets R, Ayuso C.
    Ophthalmology; 2013 Nov 04; 120(11):2332-7. PubMed ID: 23755871
    [Abstract] [Full Text] [Related]

  • 4. 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 04; 48(12):5653-61. PubMed ID: 18055816
    [Abstract] [Full Text] [Related]

  • 5. ABCA4 gene mutations in Japanese patients with Stargardt disease and retinitis pigmentosa.
    Fukui T, Yamamoto S, Nakano K, Tsujikawa M, Morimura H, Nishida K, Ohguro N, Fujikado T, Irifune M, Kuniyoshi K, Okada AA, Hirakata A, Miyake Y, Tano Y.
    Invest Ophthalmol Vis Sci; 2002 Sep 04; 43(9):2819-24. PubMed ID: 12202497
    [Abstract] [Full Text] [Related]

  • 6. Three families displaying the combination of Stargardt's disease with cone-rod dystrophy or retinitis pigmentosa.
    Klevering BJ, Maugeri A, Wagner A, Go SL, Vink C, Cremers FP, Hoyng CB.
    Ophthalmology; 2004 Mar 04; 111(3):546-53. PubMed ID: 15019334
    [Abstract] [Full Text] [Related]

  • 7. Molecular scanning of the ABCA4 gene in Spanish patients with retinitis pigmentosa and Stargardt disease: identification of novel mutations.
    Stenirri S, Battistella S, Soriani N, Bernal S, Baiget M, Ferrari M, Cremonesi L.
    Eur J Ophthalmol; 2007 Mar 04; 17(5):749-54. PubMed ID: 17932850
    [Abstract] [Full Text] [Related]

  • 8. Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants.
    Aguirre-Lamban J, Riveiro-Alvarez R, Maia-Lopes S, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, Ramos C, Ayuso C.
    Br J Ophthalmol; 2009 May 04; 93(5):614-21. PubMed ID: 19028736
    [Abstract] [Full Text] [Related]

  • 9. Comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning in the ABCA4 gene.
    Aguirre-Lamban J, Riveiro-Alvarez R, Garcia-Hoyos M, Cantalapiedra D, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, Ramos C, Ayuso C.
    Invest Ophthalmol Vis Sci; 2010 May 04; 51(5):2615-9. PubMed ID: 19959634
    [Abstract] [Full Text] [Related]

  • 10. 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 04; 42(11):e67. PubMed ID: 16272259
    [Abstract] [Full Text] [Related]

  • 11. Evaluation of the common variants of the ABCA4 gene in families with Stargardt disease and autosomal recessive retinitis pigmentosa.
    Shastry BS.
    Int J Mol Med; 2008 Jun 04; 21(6):715-20. PubMed ID: 18506364
    [Abstract] [Full Text] [Related]

  • 12. The expanding roles of ABCA4 and CRB1 in inherited blindness.
    Cremers FP, Maugeri A, den Hollander AI, Hoyng CB.
    Novartis Found Symp; 2004 Jun 04; 255():68-79; discussion 79-84, 177-8. PubMed ID: 14750597
    [Abstract] [Full Text] [Related]

  • 13. Clinical and genetic investigations of three Moroccan families with retinitis pigmentosa phenotypes.
    Bouzidi A, Charif M, Bouzidi A, Amalou G, Kandil M, Barakat A, Lenaers G.
    Mol Vis; 2021 Jun 04; 27():17-25. PubMed ID: 33633436
    [Abstract] [Full Text] [Related]

  • 14. Analysis of ABCA4 in mixed Spanish families segregating different retinal dystrophies.
    Paloma E, Coco R, Martínez-Mir A, Vilageliu L, Balcells S, Gonzàlez-Duarte R.
    Hum Mutat; 2002 Dec 04; 20(6):476. PubMed ID: 12442277
    [Abstract] [Full Text] [Related]

  • 15. Genetic heterogeneity and clinical outcome in a Swedish family with retinal degeneration caused by mutations in CRB1 and ABCA4 genes.
    Jonsson F, Burstedt MS, Sandgren O, Norberg A, Golovleva I.
    Adv Exp Med Biol; 2014 Dec 04; 801():177-83. PubMed ID: 24664696
    [Abstract] [Full Text] [Related]

  • 16. Identification of CRB1 mutations in two Chinese consanguineous families exhibiting autosomal recessive retinitis pigmentosa.
    Guo X, Li J, Wang Q, Shu Y, Wang J, Chen L, Zhang H, Shi Y, Yang J, Lu F, Jiang L, Qu C, Gong B.
    Mol Med Rep; 2019 Sep 04; 20(3):2922-2928. PubMed ID: 31322236
    [Abstract] [Full Text] [Related]

  • 17. Inherited retinal dystrophies in a Kuwaiti tribe.
    Pandova MG, Abduljalil T, Elshafey AE, Abdelmoaty SMA, Albastawisy HI, Bastaki LA, Alsaleh H, Kozak I, AlMerjan JI.
    Ophthalmic Genet; 2022 Aug 04; 43(4):438-445. PubMed ID: 35272565
    [Abstract] [Full Text] [Related]

  • 18. Molecular analysis of the ABCA4 gene in Turkish patients with Stargardt disease and retinitis pigmentosa.
    Ozgül RK, Durukan H, Turan A, Oner C, Ogüs A, Farber DB.
    Hum Mutat; 2004 May 04; 23(5):523. PubMed ID: 15108289
    [Abstract] [Full Text] [Related]

  • 19. Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.
    Beheshtian M, Saee Rad S, Babanejad M, Mohseni M, Hashemi H, Eshghabadi A, Hajizadeh F, Akbari MR, Kahrizi K, Riazi Esfahani M, Najmabadi H.
    Arch Iran Med; 2015 Nov 04; 18(11):776-85. PubMed ID: 26497376
    [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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