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Journal Abstract Search

446 related items for PubMed ID: 11138005

  • 1. A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy.
    Zhang K, Kniazeva M, Han M, Li W, Yu Z, Yang Z, Li Y, Metzker ML, Allikmets R, Zack DJ, Kakuk LE, Lagali PS, Wong PW, MacDonald IM, Sieving PA, Figueroa DJ, Austin CP, Gould RJ, Ayyagari R, Petrukhin K.
    Nat Genet; 2001 Jan; 27(1):89-93. PubMed ID: 11138005
    [Abstract] [Full Text] [Related]

  • 2. A novel gene for autosomal dominant Stargardt-like macular dystrophy with homology to the SUR4 protein family.
    Edwards AO, Donoso LA, Ritter R.
    Invest Ophthalmol Vis Sci; 2001 Oct; 42(11):2652-63. PubMed ID: 11581213
    [Abstract] [Full Text] [Related]

  • 3. Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein.
    Ambasudhan R, Wang X, Jablonski MM, Thompson DA, Lagali PS, Wong PW, Sieving PA, Ayyagari R.
    Genomics; 2004 Apr; 83(4):615-25. PubMed ID: 15028284
    [Abstract] [Full Text] [Related]

  • 4. Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci.
    Griesinger IB, Sieving PA, Ayyagari R.
    Invest Ophthalmol Vis Sci; 2000 Jan; 41(1):248-55. PubMed ID: 10634627
    [Abstract] [Full Text] [Related]

  • 5. Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene.
    Bernstein PS, Tammur J, Singh N, Hutchinson A, Dixon M, Pappas CM, Zabriskie NA, Zhang K, Petrukhin K, Leppert M, Allikmets R.
    Invest Ophthalmol Vis Sci; 2001 Dec; 42(13):3331-6. PubMed ID: 11726641
    [Abstract] [Full Text] [Related]

  • 6. A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy.
    Maugeri A, Meire F, Hoyng CB, Vink C, Van Regemorter N, Karan G, Yang Z, Cremers FP, Zhang K.
    Invest Ophthalmol Vis Sci; 2004 Dec; 45(12):4263-7. PubMed ID: 15557430
    [Abstract] [Full Text] [Related]

  • 7. Stargardt-like macular dystrophy protein ELOVL4 exerts a dominant negative effect by recruiting wild-type protein into aggresomes.
    Vasireddy V, Vijayasarathy C, Huang J, Wang XF, Jablonski MM, Petty HR, Sieving PA, Ayyagari R.
    Mol Vis; 2005 Aug 30; 11():665-76. PubMed ID: 16163264
    [Abstract] [Full Text] [Related]

  • 8. Identification of the gene responsible for Best macular dystrophy.
    Petrukhin K, Koisti MJ, Bakall B, Li W, Xie G, Marknell T, Sandgren O, Forsman K, Holmgren G, Andreasson S, Vujic M, Bergen AA, McGarty-Dugan V, Figueroa D, Austin CP, Metzker ML, Caskey CT, Wadelius C.
    Nat Genet; 1998 Jul 30; 19(3):241-7. PubMed ID: 9662395
    [Abstract] [Full Text] [Related]

  • 9. Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration.
    Gamundi MJ, Hernan I, Maseras M, Baiget M, Ayuso C, Borrego S, Antiñolo G, Millán JM, Valverde D, Carballo M.
    Mol Vis; 2005 Nov 02; 11():922-8. PubMed ID: 16280978
    [Abstract] [Full Text] [Related]

  • 10. Production of ELOVL4 transgenic pigs: a large animal model for Stargardt-like macular degeneration.
    Sommer JR, Estrada JL, Collins EB, Bedell M, Alexander CA, Yang Z, Hughes G, Mir B, Gilger BC, Grob S, Wei X, Piedrahita JA, Shaw PX, Petters RM, Zhang K.
    Br J Ophthalmol; 2011 Dec 02; 95(12):1749-54. PubMed ID: 21873315
    [Abstract] [Full Text] [Related]

  • 11. Autosomal dominant Stargardt-like macular dystrophy: identification of a new family with a mutation in the ELOVL4 gene.
    Vrabec TR, Tantri A, Edwards A, Frost A, Donoso LA.
    Am J Ophthalmol; 2003 Sep 02; 136(3):542-5. PubMed ID: 12967813
    [Abstract] [Full Text] [Related]

  • 12. Association of adipose and red blood cell lipids with severity of dominant Stargardt macular dystrophy (STGD3) secondary to an ELOVL4 mutation.
    Hubbard AF, Askew EW, Singh N, Leppert M, Bernstein PS.
    Arch Ophthalmol; 2006 Feb 02; 124(2):257-63. PubMed ID: 16476896
    [Abstract] [Full Text] [Related]

  • 13. Genetics and molecular pathology of Stargardt-like macular degeneration.
    Vasireddy V, Wong P, Ayyagari R.
    Prog Retin Eye Res; 2010 May 02; 29(3):191-207. PubMed ID: 20096366
    [Abstract] [Full Text] [Related]

  • 14. Mutant ELOVL4 that causes autosomal dominant stargardt-3 macular dystrophy is misrouted to rod outer segment disks.
    Agbaga MP, Tam BM, Wong JS, Yang LL, Anderson RE, Moritz OL.
    Invest Ophthalmol Vis Sci; 2014 May 15; 55(6):3669-80. PubMed ID: 24833735
    [Abstract] [Full Text] [Related]

  • 15. Loss of ER retention and sequestration of the wild-type ELOVL4 by Stargardt disease dominant negative mutants.
    Karan G, Yang Z, Howes K, Zhao Y, Chen Y, Cameron DJ, Lin Y, Pearson E, Zhang K.
    Mol Vis; 2005 Aug 30; 11():657-64. PubMed ID: 16145543
    [Abstract] [Full Text] [Related]

  • 16. Elovl4 haploinsufficiency does not induce early onset retinal degeneration in mice.
    Li W, Chen Y, Cameron DJ, Wang C, Karan G, Yang Z, Zhao Y, Pearson E, Chen H, Deng C, Howes K, Zhang K.
    Vision Res; 2007 Mar 30; 47(5):714-22. PubMed ID: 17254625
    [Abstract] [Full Text] [Related]

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  • 18. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.
    Alexander C, Votruba M, Pesch UE, Thiselton DL, Mayer S, Moore A, Rodriguez M, Kellner U, Leo-Kottler B, Auburger G, Bhattacharya SS, Wissinger B.
    Nat Genet; 2000 Oct 30; 26(2):211-5. PubMed ID: 11017080
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