Tavares E - Search Results

1

Prevalence of Choroidal Abnormalities and Lisch Nodules in Children Meeting Clinical and Molecular Diagnosis of Neurofibromatosis Type 1.

Flores Pimentel M, Heath A, Wan MJ, Hussein R, Leahy KE, MacDonald H, Tavares E, VandenHoven C, MacNeill K, Kannu P, Parkin PC, Heon E, Reginald A, Vincent A. Flores Pimentel M, et al. Among authors: tavares e. Transl Vis Sci Technol. 2022 Feb 1;11(2):10. doi: 10.1167/tvst.11.2.10. Transl Vis Sci Technol. 2022. PMID: 35119474 Free PMC article.

2

Unique retinal signaling defect in GNB5-related disease.

Shao Z, Tumber A, Maynes J, Tavares E, Kannu P, Heon E, Vincent A. Shao Z, et al. Among authors: tavares e. Doc Ophthalmol. 2020 Jun;140(3):273-277. doi: 10.1007/s10633-019-09735-1. Epub 2019 Nov 12. Doc Ophthalmol. 2020. PMID: 31720979

3

Optic Atrophy and Inner Retinal Thinning in CACNA1F-related Congenital Stationary Night Blindness.

Leahy KE, Wright T, Grudzinska Pechhacker MK, Audo I, Tumber A, Tavares E, MacDonald H, Locke J, VandenHoven C, Zeitz C, Heon E, Buncic JR, Vincent A. Leahy KE, et al. Among authors: tavares e. Genes (Basel). 2021 Feb 25;12(3):330. doi: 10.3390/genes12030330. Genes (Basel). 2021. PMID: 33668843 Free PMC article.

4

FLVCR1-related disease as a rare cause of retinitis pigmentosa and hereditary sensory autonomic neuropathy.

Grudzinska Pechhacker MK, Yoon G, Hazrati LN, Maynes J, MacDonald H, Tavares E, Vincent A, Heon E. Grudzinska Pechhacker MK, et al. Among authors: tavares e. Eur J Med Genet. 2020 Nov;63(11):104037. doi: 10.1016/j.ejmg.2020.104037. Epub 2020 Aug 19. Eur J Med Genet. 2020. PMID: 32822874

5

IFT80 mutations cause a novel complex ciliopathy phenotype with retinal degeneration.

Moran J, G Sanderson K, Maynes J, Vig A, Batmanabane V, Kannu P, Tavares E, Vincent A, Héon E. Moran J, et al. Among authors: tavares e. Clin Genet. 2018 Oct;94(3-4):368-372. doi: 10.1111/cge.13408. Epub 2018 Jul 17. Clin Genet. 2018. PMID: 29923190

6

Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis.

Vincent A, Ng J, Gerth-Kahlert C, Tavares E, Maynes JT, Wright T, Tiwari A, Tumber A, Li S, Hanson JV, Bahr A, MacDonald H, Bähr L, Westall C, Berger W, Cremers FP, den Hollander AI, Héon E. Vincent A, et al. Among authors: tavares e. Invest Ophthalmol Vis Sci. 2016 May 1;57(6):2637-46. doi: 10.1167/iovs.15-18281. Invest Ophthalmol Vis Sci. 2016. PMID: 27258436 Free article.

7

Retrotransposon insertion as a novel mutational event in Bardet-Biedl syndrome.

Tavares E, Tang CY, Vig A, Li S, Billingsley G, Sung W, Vincent A, Thiruvahindrapuram B, Héon E. Tavares E, et al. Mol Genet Genomic Med. 2019 Feb;7(2):e00521. doi: 10.1002/mgg3.521. Epub 2018 Nov 28. Mol Genet Genomic Med. 2019. PMID: 30484961 Free PMC article.

8

CRB1-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency.

Grudzinska Pechhacker MK, Di Scipio M, Vig A, Tumber A, Roslin N, Tavares E, Vincent A, Hèon E. Grudzinska Pechhacker MK, et al. Among authors: tavares e. Ophthalmic Genet. 2020 Oct;41(5):457-464. doi: 10.1080/13816810.2020.1790013. Epub 2020 Jul 20. Ophthalmic Genet. 2020. PMID: 32689861

9

Unilateral cataract and congenital stationary night blindness in a child with novel variants in TRPM1.

Saleh E, Pechhacker MG, Vig A, Mehta M, Maynes J, Tumber A, Tavares E, Vincent A, Mireskandari K, Heon E. Saleh E, et al. Among authors: tavares e. J AAPOS. 2022 Aug;26(4):202-205. doi: 10.1016/j.jaapos.2022.03.013. Epub 2022 Jul 21. J AAPOS. 2022. PMID: 35872165 Free article.

10

Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing Overlapping Phenotypes.

Shao Z, Masuho I, Tumber A, Maynes JT, Tavares E, Ali A, Hewson S, Schulze A, Kannu P, Martemyanov KA, Vincent A. Shao Z, et al. Among authors: tavares e. Genes (Basel). 2021 Aug 29;12(9):1352. doi: 10.3390/genes12091352. Genes (Basel). 2021. PMID: 34573334 Free PMC article.

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