Levin AV - Search Results

1

Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach.

Petersen-Jones SM, Occelli LM, Winkler PA, Lee W, Sparrow JR, Tsukikawa M, Boye SL, Chiodo V, Capasso JE, Becirovic E, Schön C, Seeliger MW, Levin AV, Michalakis S, Hauswirth WW, Tsang SH. Petersen-Jones SM, et al. Among authors: levin av. J Clin Invest. 2018 Jan 2;128(1):190-206. doi: 10.1172/JCI95161. Epub 2017 Nov 20. J Clin Invest. 2018. PMID: 29202463 Free PMC article.

2

Novel ABCA4 mutation leads to loss of a conserved C-terminal motif: implications for predicting pathogenicity based on genetic testing.

Wangtiraumnuay N, Capasso J, Tsukikawa M, Levin A, Biswas-Fiss E. Wangtiraumnuay N, et al. Eur J Ophthalmol. 2018 Jan;28(1):123-126. doi: 10.5301/ejo.5001019. Epub 2018 Feb 19. Eur J Ophthalmol. 2018. PMID: 28885670 Free article.

3

CNGB1-related rod-cone dystrophy: A mutation review and update.

Nassisi M, Smirnov VM, Solis Hernandez C, Mohand-Saïd S, Condroyer C, Antonio A, Kühlewein L, Kempf M, Kohl S, Wissinger B, Nasser F, Ragi SD, Wang NK, Sparrow JR, Greenstein VC, Michalakis S, Mahroo OA, Ba-Abbad R, Michaelides M, Webster AR, Degli Esposti S, Saffren B, Capasso J, Levin A, Hauswirth WW, Dhaenens CM, Defoort-Dhellemmes S, Tsang SH, Zrenner E, Sahel JA, Petersen-Jones SM, Zeitz C, Audo I. Nassisi M, et al. Hum Mutat. 2021 Jun;42(6):641-666. doi: 10.1002/humu.24205. Epub 2021 May 16. Hum Mutat. 2021. PMID: 33847019 Free PMC article. Review.

4

Experiences of genetic testing among individuals with retinitis pigmentosa.

Krauss E, Macher J, Capasso J, Bernhardt B, Ali-KhanCatts Z, Levin A, Brandt R. Krauss E, et al. Ophthalmic Genet. 2022 Oct;43(5):633-640. doi: 10.1080/13816810.2022.2096243. Epub 2022 Jul 7. Ophthalmic Genet. 2022. PMID: 35796432

5

Intraretinal cystoid spaces in a patient with retinitis pigmentosa due to mutation in the MAK gene.

Lai YH, Capasso JE, Kaiser R, Levin AV. Lai YH, et al. Among authors: levin av. Ophthalmic Genet. 2016 Dec;37(4):424-426. doi: 10.3109/13816810.2015.1092046. Epub 2016 Feb 19. Ophthalmic Genet. 2016. PMID: 26894652

6

Paradoxical response to carbonic anhydrase inhibitors in patients with intraretinal cystoid spaces.

Guimaraes TAC, Capasso JE, Levin AV. Guimaraes TAC, et al. Among authors: levin av. Ophthalmic Genet. 2019 Jun;40(3):213-218. doi: 10.1080/13816810.2019.1622021. Epub 2019 Jul 2. Ophthalmic Genet. 2019. PMID: 31266384

7

Lyonization in ophthalmology.

Wuthisiri W, Lingao MD, Capasso JE, Levin AV. Wuthisiri W, et al. Among authors: levin av. Curr Opin Ophthalmol. 2013 Sep;24(5):389-97. doi: 10.1097/ICU.0b013e3283641f91. Curr Opin Ophthalmol. 2013. PMID: 23892913 Review.

8

Autosomal-dominant Leber Congenital Amaurosis Caused by a Heterozygous CRX Mutation in a Father and Son.

Arcot Sadagopan K, Battista R, Keep RB, Capasso JE, Levin AV. Arcot Sadagopan K, et al. Among authors: levin av. Ophthalmic Genet. 2015 Jun;36(2):156-9. doi: 10.3109/13816810.2013.838273. Epub 2013 Oct 4. Ophthalmic Genet. 2015. PMID: 24093488

9

Early onset ectopia lentis due to a FBN1 mutation with non-penetrance.

Zhang L, Lai YH, Capasso JE, Han S, Levin AV. Zhang L, et al. Among authors: levin av. Am J Med Genet A. 2015 Jun;167(6):1365-8. doi: 10.1002/ajmg.a.37035. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25900864

10

Ocular manifestations of PACS1 mutation.

Pefkianaki M, Schneider A, Capasso JE, Wasserman BN, Bardakjian T, Levin AV. Pefkianaki M, et al. Among authors: levin av. J AAPOS. 2018 Aug;22(4):323-325. doi: 10.1016/j.jaapos.2017.12.008. Epub 2018 Mar 14. J AAPOS. 2018. PMID: 29550517

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