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A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy.
Nat Genet. 2001 Jan;27(1):89-93. doi: 10.1038/83817.
Nat Genet. 2001.
PMID: 11138005
Evaluation of the ELOVL4 gene in patients with age-related macular degeneration.
Ayyagari R, Zhang K, Hutchinson A, Yu Z, Swaroop A, Kakuk LE, Seddon JM, Bernstein PS, Lewis RA, Tammur J, Yang Z, Li Y, Zhang H, Yashar BM, Liu J, Petrukhin K, Sieving PA, Allikmets R.
Ayyagari R, et al. Among authors: kakuk le.
Ophthalmic Genet. 2001 Dec;22(4):233-9. doi: 10.1076/opge.22.4.233.2219.
Ophthalmic Genet. 2001.
PMID: 11803489
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Evolutionarily conserved ELOVL4 gene expression in the vertebrate retina.
Lagali PS, Liu J, Ambasudhan R, Kakuk LE, Bernstein SL, Seigel GM, Wong PW, Ayyagari R.
Lagali PS, et al. Among authors: kakuk le.
Invest Ophthalmol Vis Sci. 2003 Jul;44(7):2841-50. doi: 10.1167/iovs.02-0991.
Invest Ophthalmol Vis Sci. 2003.
PMID: 12824221
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Bilateral macular atrophy in blue cone monochromacy (BCM) with loss of the locus control region (LCR) and part of the red pigment gene.
Ayyagari R, Kakuk LE, Coats CL, Bingham EL, Toda Y, Felius J, Sieving PA.
Ayyagari R, et al. Among authors: kakuk le.
Mol Vis. 1999 Jul 28;5:13.
Mol Vis. 1999.
PMID: 10427103
Free article.
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Spectrum of color gene deletions and phenotype in patients with blue cone monochromacy.
Ayyagari R, Kakuk LE, Bingham EL, Szczesny JJ, Kemp J, Toda Y, Felius J, Sieving PA.
Ayyagari R, et al. Among authors: kakuk le.
Hum Genet. 2000 Jul;107(1):75-82. doi: 10.1007/s004390000338.
Hum Genet. 2000.
PMID: 10982039
Free article.
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Identification and characterization of C6orf37, a novel candidate human retinal disease gene on chromosome 6q14.
Lagali PS, Kakuk LE, Griesinger IB, Wong PW, Ayyagari R.
Lagali PS, et al. Among authors: kakuk le.
Biochem Biophys Res Commun. 2002 Apr 26;293(1):356-65. doi: 10.1016/S0006-291X(02)00228-0.
Biochem Biophys Res Commun. 2002.
PMID: 12054608
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Bestrophin gene mutations in patients with Best vitelliform macular dystrophy.
Caldwell GM, Kakuk LE, Griesinger IB, Simpson SA, Nowak NJ, Small KW, Maumenee IH, Rosenfeld PJ, Sieving PA, Shows TB, Ayyagari R.
Caldwell GM, et al. Among authors: kakuk le.
Genomics. 1999 May 15;58(1):98-101. doi: 10.1006/geno.1999.5808.
Genomics. 1999.
PMID: 10331951
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X-linked recessive atrophic macular degeneration from RPGR mutation.
Ayyagari R, Demirci FY, Liu J, Bingham EL, Stringham H, Kakuk LE, Boehnke M, Gorin MB, Richards JE, Sieving PA.
Ayyagari R, et al. Among authors: kakuk le.
Genomics. 2002 Aug;80(2):166-71. doi: 10.1006/geno.2002.6815.
Genomics. 2002.
PMID: 12160730
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