Ayyagari R - Search Results

1

Analysis of the ABCA4 genomic locus in Stargardt disease.

Zernant J, Xie YA, Ayuso C, Riveiro-Alvarez R, Lopez-Martinez MA, Simonelli F, Testa F, Gorin MB, Strom SP, Bertelsen M, Rosenberg T, Boone PM, Yuan B, Ayyagari R, Nagy PL, Tsang SH, Gouras P, Collison FT, Lupski JR, Fishman GA, Allikmets R. Zernant J, et al. Among authors: ayyagari r. Hum Mol Genet. 2014 Dec 20;23(25):6797-806. doi: 10.1093/hmg/ddu396. Epub 2014 Jul 31. Hum Mol Genet. 2014. PMID: 25082829 Free PMC article.

2

Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change.

Hiriyanna KT, Bingham EL, Yashar BM, Ayyagari R, Fishman G, Small KW, Weinberg DV, Weleber RG, Lewis RA, Andreasson S, Richards JE, Sieving PA. Hiriyanna KT, et al. Among authors: ayyagari r. Hum Mutat. 1999;14(5):423-7. doi: 10.1002/(SICI)1098-1004(199911)14:5<423::AID-HUMU8>3.0.CO;2-D. Hum Mutat. 1999. PMID: 10533068 Free article.

3

A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract.

Ren Z, Li A, Shastry BS, Padma T, Ayyagari R, Scott MH, Parks MM, Kaiser-Kupfer MI, Hejtmancik JF. Ren Z, et al. Among authors: ayyagari r. Hum Genet. 2000 May;106(5):531-7. doi: 10.1007/s004390000289. Hum Genet. 2000. PMID: 10914683 Free article.

4

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. Among authors: ayyagari r. Nat Genet. 2001 Jan;27(1):89-93. doi: 10.1038/83817. Nat Genet. 2001. PMID: 11138005

5

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. Ophthalmic Genet. 2001 Dec;22(4):233-9. doi: 10.1076/opge.22.4.233.2219. Ophthalmic Genet. 2001. PMID: 11803489

6

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. Genomics. 2002 Aug;80(2):166-71. doi: 10.1006/geno.2002.6815. Genomics. 2002. PMID: 12160730

7

Early-onset macular degeneration with drusen in a cynomolgus monkey (Macaca fascicularis) pedigree: exclusion of 13 candidate genes and loci.

Umeda S, Ayyagari R, Allikmets R, Suzuki MT, Karoukis AJ, Ambasudhan R, Zernant J, Okamoto H, Ono F, Terao K, Mizota A, Yoshikawa Y, Tanaka Y, Iwata T. Umeda S, et al. Among authors: ayyagari r. Invest Ophthalmol Vis Sci. 2005 Feb;46(2):683-91. doi: 10.1167/iovs.04-1031. Invest Ophthalmol Vis Sci. 2005. PMID: 15671300

8

Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3-p21.2 between D1S2896 and D1S457 but outside ABCA4.

Zhang Q, Zulfiqar F, Xiao X, Riazuddin SA, Ayyagari R, Sabar F, Caruso R, Sieving PA, Riazuddin S, Hejtmancik JF. Zhang Q, et al. Among authors: ayyagari r. Hum Genet. 2005 Dec;118(3-4):356-65. doi: 10.1007/s00439-005-0054-4. Epub 2005 Sep 28. Hum Genet. 2005. PMID: 16189710 Free article.

9

Molecular and phenotypic analysis of a family with autosomal recessive cone-rod dystrophy and Stargardt disease.

Yzer S, van den Born LI, Zonneveld MN, Lopez I, Ayyagari R, Teye-Botchway L, Mota-Vieira L, Cremers FP, Koenekoop RK. Yzer S, et al. Among authors: ayyagari r. Mol Vis. 2007 Aug 31;13:1568-72. Mol Vis. 2007. PMID: 17893657

10

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.

Louie CM, Caridi G, Lopes VS, Brancati F, Kispert A, Lancaster MA, Schlossman AM, Otto EA, Leitges M, Gröne HJ, Lopez I, Gudiseva HV, O'Toole JF, Vallespin E, Ayyagari R, Ayuso C, Cremers FP, den Hollander AI, Koenekoop RK, Dallapiccola B, Ghiggeri GM, Hildebrandt F, Valente EM, Williams DS, Gleeson JG. Louie CM, et al. Among authors: ayyagari r. Nat Genet. 2010 Feb;42(2):175-80. doi: 10.1038/ng.519. Epub 2010 Jan 17. Nat Genet. 2010. PMID: 20081859 Free PMC article.

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