Allikmets R - Search Results

1

Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.

Cremers FPM, Lee W, Collin RWJ, Allikmets R. Cremers FPM, et al. Among authors: allikmets r. Prog Retin Eye Res. 2020 Nov;79:100861. doi: 10.1016/j.preteyeres.2020.100861. Epub 2020 Apr 9. Prog Retin Eye Res. 2020. PMID: 32278709 Free PMC article. Review.

2

Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.

Burke TR, Fishman GA, Zernant J, Schubert C, Tsang SH, Smith RT, Ayyagari R, Koenekoop RK, Umfress A, Ciccarelli ML, Baldi A, Iannaccone A, Cremers FP, Klaver CC, Allikmets R. Burke TR, et al. Among authors: allikmets r. Invest Ophthalmol Vis Sci. 2012 Jul 3;53(8):4458-67. doi: 10.1167/iovs.11-9166. Invest Ophthalmol Vis Sci. 2012. PMID: 22661473 Free PMC article.

3

Genetic and clinical analysis of ABCA4-associated disease in African American patients.

Zernant J, Collison FT, Lee W, Fishman GA, Noupuu K, Yuan B, Cai C, Lupski JR, Yannuzzi LA, Tsang SH, Allikmets R. Zernant J, et al. Among authors: allikmets r. Hum Mutat. 2014 Oct;35(10):1187-94. doi: 10.1002/humu.22626. Hum Mutat. 2014. PMID: 25066811 Free PMC article.

4

Structural and genetic assessment of the ABCA4-associated optical gap phenotype.

Nõupuu K, Lee W, Zernant J, Tsang SH, Allikmets R. Nõupuu K, et al. Among authors: allikmets r. Invest Ophthalmol Vis Sci. 2014 Oct 9;55(11):7217-26. doi: 10.1167/iovs.14-14674. Invest Ophthalmol Vis Sci. 2014. PMID: 25301883 Free PMC article.

5

Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes.

Lee W, Xie Y, Zernant J, Yuan B, Bearelly S, Tsang SH, Lupski JR, Allikmets R. Lee W, et al. Among authors: allikmets r. Hum Genet. 2016 Jan;135(1):9-19. doi: 10.1007/s00439-015-1605-y. Epub 2015 Nov 2. Hum Genet. 2016. PMID: 26527198 Free PMC article.

6

In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases.

Cornelis SS, Bax NM, Zernant J, Allikmets R, Fritsche LG, den Dunnen JT, Ajmal M, Hoyng CB, Cremers FP. Cornelis SS, et al. Among authors: allikmets r. Hum Mutat. 2017 Apr;38(4):400-408. doi: 10.1002/humu.23165. Epub 2017 Feb 3. Hum Mutat. 2017. PMID: 28044389

7

The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease.

Tanaka K, Lee W, Zernant J, Schuerch K, Ciccone L, Tsang SH, Sparrow JR, Allikmets R. Tanaka K, et al. Among authors: allikmets r. Ophthalmology. 2018 Jan;125(1):89-99. doi: 10.1016/j.ophtha.2017.07.019. Epub 2017 Sep 22. Ophthalmology. 2018. PMID: 28947085 Free PMC article.

8

Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease.

Albert S, Garanto A, Sangermano R, Khan M, Bax NM, Hoyng CB, Zernant J, Lee W, Allikmets R, Collin RWJ, Cremers FPM. Albert S, et al. Among authors: allikmets r. Am J Hum Genet. 2018 Apr 5;102(4):517-527. doi: 10.1016/j.ajhg.2018.02.008. Epub 2018 Mar 8. Am J Hum Genet. 2018. PMID: 29526278 Free PMC article.

9

A case-control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants.

Wolock CJ, Stong N, Ma CJ, Nagasaki T, Lee W, Tsang SH, Kamalakaran S, Goldstein DB, Allikmets R. Wolock CJ, et al. Among authors: allikmets r. Genet Med. 2019 Oct;21(10):2336-2344. doi: 10.1038/s41436-019-0495-0. Epub 2019 Mar 30. Genet Med. 2019. PMID: 30926958 Free PMC article.

10

Reevaluating the Association of Sex With ABCA4 Alleles in Patients With Stargardt Disease.

Lee W, Zernant J, Nagasaki T, Allikmets R. Lee W, et al. Among authors: allikmets r. JAMA Ophthalmol. 2021 Jun 1;139(6):654-657. doi: 10.1001/jamaophthalmol.2021.0460. JAMA Ophthalmol. 2021. PMID: 33792637 Free PMC article.

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