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Journal Abstract Search

117 related items for PubMed ID: 12362048

  • 1. Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa.
    Paloma E, Martínez-Mir A, García-Sandoval B, Ayuso C, Vilageliu L, Gonzàlez-Duarte R, Balcells S.
    J Med Genet; 2002 Oct; 39(10):E66. PubMed ID: 12362048
    [No Abstract] [Full Text] [Related]

  • 2. Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.
    Zhang Q, Zulfiqar F, Riazuddin SA, Xiao X, Ahmad Z, Riazuddin S, Hejtmancik JF.
    Mol Vis; 2004 Nov 17; 10():884-9. PubMed ID: 15570217
    [Abstract] [Full Text] [Related]

  • 3. Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.
    Dryja TP, Finn JT, Peng YW, McGee TL, Berson EL, Yau KW.
    Proc Natl Acad Sci U S A; 1995 Oct 24; 92(22):10177-81. PubMed ID: 7479749
    [Abstract] [Full Text] [Related]

  • 4. Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa.
    Bareil C, Hamel CP, Delague V, Arnaud B, Demaille J, Claustres M.
    Hum Genet; 2001 Apr 24; 108(4):328-34. PubMed ID: 11379879
    [Abstract] [Full Text] [Related]

  • 5. Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase.
    Huang SH, Pittler SJ, Huang X, Oliveira L, Berson EL, Dryja TP.
    Nat Genet; 1995 Dec 24; 11(4):468-71. PubMed ID: 7493036
    [Abstract] [Full Text] [Related]

  • 6. A Novel CNGA1 Gene Mutation (c.G622A) of Autosomal Recessive Retinitis Pigmentosa Leads to the CNGA1 Protein Reduction on Membrane.
    Gao Q, Liu Y, Lei X, Deng Q, Tong Y, Du L, Shen Y.
    Biochem Genet; 2019 Aug 24; 57(4):540-554. PubMed ID: 30652268
    [Abstract] [Full Text] [Related]

  • 7. Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.
    Katagiri S, Akahori M, Sergeev Y, Yoshitake K, Ikeo K, Furuno M, Hayashi T, Kondo M, Ueno S, Tsunoda K, Shinoda K, Kuniyoshi K, Tsurusaki Y, Matsumoto N, Tsuneoka H, Iwata T.
    PLoS One; 2014 Aug 24; 9(9):e108721. PubMed ID: 25268133
    [Abstract] [Full Text] [Related]

  • 8. Identification of a novel homozygous variant in the CNGA1 gene in a Chinese family with autosomal recessive retinitis pigmentosa.
    Wang L, Zou T, Lin Y, Li L, Zhang P, Gong B, Hao J, Zhang H.
    Mol Med Rep; 2020 Sep 24; 22(3):2516-2520. PubMed ID: 32705276
    [Abstract] [Full Text] [Related]

  • 9. A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers.
    Kondo H, Qin M, Mizota A, Kondo M, Hayashi H, Hayashi K, Oshima K, Tahira T, Hayashi K.
    Invest Ophthalmol Vis Sci; 2004 Dec 24; 45(12):4433-9. PubMed ID: 15557452
    [Abstract] [Full Text] [Related]

  • 10. Identification of a novel R552O mutation in exon 13 of the beta-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa.
    Valverde D, Baiget M, Seminago R, del Rio E, García-Sandoval B, del Rio T, Bayés M, Balcells S, Martínez A, Grinberg D, Ayuso C.
    Hum Mutat; 1996 Dec 24; 8(4):393-4. PubMed ID: 8956055
    [No Abstract] [Full Text] [Related]

  • 11. Novel compound heterozygous mutations in CNGA1in a Chinese family affected with autosomal recessive retinitis pigmentosa by targeted sequencing.
    Wang M, Gan D, Huang X, Xu G.
    BMC Ophthalmol; 2016 Jul 08; 16():101. PubMed ID: 27391953
    [Abstract] [Full Text] [Related]

  • 12. A case of retinitis pigmentosa homozygous for a rare CNGA1 causal variant.
    Saito K, Gotoh N, Kang I, Shimada T, Usui T, Terao C.
    Sci Rep; 2021 Feb 25; 11(1):4681. PubMed ID: 33633220
    [Abstract] [Full Text] [Related]

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    [No Abstract] [Full Text] [Related]

  • 14. Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families.
    Srilekha S, Arokiasamy T, Srikrupa NN, Umashankar V, Meenakshi S, Sen P, Kapur S, Soumittra N.
    PLoS One; 2015 Feb 25; 10(7):e0131679. PubMed ID: 26147992
    [Abstract] [Full Text] [Related]

  • 15. Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa.
    Ksantini M, Lafont E, Bocquet B, Meunier I, Hamel CP.
    Eur J Ophthalmol; 2012 Feb 25; 22(4):647-53. PubMed ID: 22180149
    [Abstract] [Full Text] [Related]

  • 16. Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation.
    Bernal S, Ayuso C, Antiñolo G, Gimenez A, Borrego S, Trujillo MJ, Marcos I, Calaf M, Del Rio E, Baiget M.
    J Med Genet; 2003 Jan 25; 40(1):e8. PubMed ID: 12525556
    [No Abstract] [Full Text] [Related]

  • 17. Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase.
    Dvir L, Srour G, Abu-Ras R, Miller B, Shalev SA, Ben-Yosef T.
    Am J Hum Genet; 2010 Aug 13; 87(2):258-64. PubMed ID: 20655036
    [Abstract] [Full Text] [Related]

  • 18. Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa.
    Bernal S, Calaf M, Garcia-Hoyos M, Garcia-Sandoval B, Rosell J, Adan A, Ayuso C, Baiget M.
    J Med Genet; 2003 Jul 13; 40(7):e89. PubMed ID: 12843338
    [No Abstract] [Full Text] [Related]

  • 19. Analysis of the IRBP gene as a cause of RP in 45 ARRP Spanish families. Autosomal recessive retinitis pigmentosa. Interstitial retinol binding protein. Spanish Multicentric and Multidisciplinary Group for Research into Retinitis Pigmentosa.
    Valverde D, Vázquez-Gundín F, del Rio E, Calaf M, Fernández JL, Baiget M.
    Ophthalmic Genet; 1998 Dec 13; 19(4):197-202. PubMed ID: 9895244
    [Abstract] [Full Text] [Related]

  • 20. Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa.
    Corton M, Avila-Fernández A, Campello L, Sánchez M, Benavides B, López-Molina MI, Fernández-Sánchez L, Sánchez-Alcudia R, da Silva LRJ, Reyes N, Martín-Garrido E, Zurita O, Fernández-San José P, Pérez-Carro R, García-García F, Dopazo J, García-Sandoval B, Cuenca N, Ayuso C.
    Sci Rep; 2016 Oct 13; 6():35370. PubMed ID: 27734943
    [Abstract] [Full Text] [Related]

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