PubMed (OMIM) for id: 482486

Year	Number of Results
1999	1
2000	1
2001	2
2004	2
2005	1
2023	0

1

Lipofuscin accumulation, abnormal electrophysiology, and photoreceptor degeneration in mutant ELOVL4 transgenic mice: a model for macular degeneration.

Karan G, Lillo C, Yang Z, Cameron DJ, Locke KG, Zhao Y, Thirumalaichary S, Li C, Birch DG, Vollmer-Snarr HR, Williams DS, Zhang K. Karan G, et al. Proc Natl Acad Sci U S A. 2005 Mar 15;102(11):4164-9. doi: 10.1073/pnas.0407698102. Epub 2005 Mar 4. Proc Natl Acad Sci U S A. 2005. PMID: 15749821 Free PMC article.

2

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. Maugeri A, et al. Invest Ophthalmol Vis Sci. 2004 Dec;45(12):4263-7. doi: 10.1167/iovs.04-0078. Invest Ophthalmol Vis Sci. 2004. PMID: 15557430

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. Ambasudhan R, et al. Genomics. 2004 Apr;83(4):615-25. doi: 10.1016/j.ygeno.2003.10.004. Genomics. 2004. PMID: 15028284

4

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. Bernstein PS, et al. Invest Ophthalmol Vis Sci. 2001 Dec;42(13):3331-6. Invest Ophthalmol Vis Sci. 2001. PMID: 11726641

5

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. Zhang K, et al. Nat Genet. 2001 Jan;27(1):89-93. doi: 10.1038/83817. Nat Genet. 2001. PMID: 11138005

6

Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci.

Griesinger IB, Sieving PA, Ayyagari R. Griesinger IB, et al. Invest Ophthalmol Vis Sci. 2000 Jan;41(1):248-55. Invest Ophthalmol Vis Sci. 2000. PMID: 10634627

7

Autosomal dominant Stargardt-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14.

Edwards AO, Miedziak A, Vrabec T, Verhoeven J, Acott TS, Weleber RG, Donoso LA. Edwards AO, et al. Am J Ophthalmol. 1999 Apr;127(4):426-35. doi: 10.1016/s0002-9394(98)00331-6. Am J Ophthalmol. 1999. PMID: 10218695

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