Vincent A - Search Results

1

Shedding light on myopia by studying complete congenital stationary night blindness.

Zeitz C, Roger JE, Audo I, Michiels C, Sánchez-Farías N, Varin J, Frederiksen H, Wilmet B, Callebert J, Gimenez ML, Bouzidi N, Blond F, Guilllonneau X, Fouquet S, Léveillard T, Smirnov V, Vincent A, Héon E, Sahel JA, Kloeckener-Gruissem B, Sennlaub F, Morgans CW, Duvoisin RM, Tkatchenko AV, Picaud S. Zeitz C, et al. Among authors: vincent a. Prog Retin Eye Res. 2023 Mar;93:101155. doi: 10.1016/j.preteyeres.2022.101155. Epub 2023 Jan 19. Prog Retin Eye Res. 2023. PMID: 36669906 Free article. Review.

2

Oligocone trichromacy is part of the spectrum of CNGA3-related cone system disorders.

Vincent A, Wright T, Billingsley G, Westall C, Héon E. Vincent A, et al. Ophthalmic Genet. 2011 Jun;32(2):107-13. doi: 10.3109/13816810.2010.544366. Epub 2011 Jan 26. Ophthalmic Genet. 2011. PMID: 21268679

3

A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.

Vincent A, Wright T, Day MA, Westall CA, Héon E. Vincent A, et al. Mol Vis. 2011;17:3262-70. Epub 2011 Dec 15. Mol Vis. 2011. PMID: 22194652 Free PMC article.

4

The characterization of retinal phenotype in a family with C1QTNF5-related late-onset retinal degeneration.

Vincent A, Munier FL, Vandenhoven CC, Wright T, Westall CA, Héon E. Vincent A, et al. Retina. 2012 Sep;32(8):1643-51. doi: 10.1097/IAE.0b013e318240a574. Retina. 2012. PMID: 22277927

5

Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly.

Billingsley G, Vincent A, Deveault C, Héon E. Billingsley G, et al. Among authors: vincent a. Ophthalmic Genet. 2012 Sep;33(3):150-4. doi: 10.3109/13816810.2012.689411. Epub 2012 May 24. Ophthalmic Genet. 2012. PMID: 22626039

6

Phenotypic characteristics including in vivo cone photoreceptor mosaic in KCNV2-related "cone dystrophy with supernormal rod electroretinogram".

Vincent A, Wright T, Garcia-Sanchez Y, Kisilak M, Campbell M, Westall C, Héon E. Vincent A, et al. Invest Ophthalmol Vis Sci. 2013 Jan 30;54(1):898-908. doi: 10.1167/iovs.12-10971. Invest Ophthalmol Vis Sci. 2013. PMID: 23221069 Free PMC article.

7

OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium.

Vincent A, Forster N, Maynes JT, Paton TA, Billingsley G, Roslin NM, Ali A, Sutherland J, Wright T, Westall CA, Paterson AD, Marshall CR; FORGE Canada Consortium; Héon E. Vincent A, et al. J Med Genet. 2014 Dec;51(12):797-805. doi: 10.1136/jmedgenet-2014-102620. Epub 2014 Oct 7. J Med Genet. 2014. PMID: 25293953

8

Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21).

Heon E, Kim G, Qin S, Garrison JE, Tavares E, Vincent A, Nuangchamnong N, Scott CA, Slusarski DC, Sheffield VC. Heon E, et al. Among authors: vincent a. Hum Mol Genet. 2016 Jun 1;25(11):2283-2294. doi: 10.1093/hmg/ddw096. Epub 2016 Mar 22. Hum Mol Genet. 2016. PMID: 27008867 Free PMC article.

9

Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.

Vincent A, Audo I, Tavares E, Maynes JT, Tumber A, Wright T, Li S, Michiels C; GNB3 Consortium; Condroyer C, MacDonald H, Verdet R, Sahel JA, Hamel CP, Zeitz C, Héon E. Vincent A, et al. Am J Hum Genet. 2016 May 5;98(5):1011-1019. doi: 10.1016/j.ajhg.2016.03.021. Epub 2016 Apr 7. Am J Hum Genet. 2016. PMID: 27063057 Free PMC article.

10

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. Among authors: vincent a. 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.

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