Vincent A - Search Results

1

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.

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

BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

Deveault C, Billingsley G, Duncan JL, Bin J, Theal R, Vincent A, Fieggen KJ, Gerth C, Noordeh N, Traboulsi EI, Fishman GA, Chitayat D, Knueppel T, Millán JM, Munier FL, Kennedy D, Jacobson SG, Innes AM, Mitchell GA, Boycott K, Héon E. Deveault C, et al. Among authors: vincent a. Hum Mutat. 2011 Jun;32(6):610-9. doi: 10.1002/humu.21480. Epub 2011 Mar 22. Hum Mutat. 2011. PMID: 21344540

4

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.

5

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

6

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

7

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.

8

Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes.

Sergeev YV, Vitale S, Sieving PA, Vincent A, Robson AG, Moore AT, Webster AR, Holder GE. Sergeev YV, et al. Among authors: vincent a. Hum Mol Genet. 2013 Dec 1;22(23):4756-67. doi: 10.1093/hmg/ddt329. Epub 2013 Jul 11. Hum Mol Genet. 2013. PMID: 23847049 Free PMC article.

9

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

10

A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.

Lenassi E, Vincent A, Li Z, Saihan Z, Coffey AJ, Steele-Stallard HB, Moore AT, Steel KP, Luxon LM, Héon E, Bitner-Glindzicz M, Webster AR. Lenassi E, et al. Among authors: vincent a. Eur J Hum Genet. 2015 Oct;23(10):1318-27. doi: 10.1038/ejhg.2014.283. Epub 2015 Feb 4. Eur J Hum Genet. 2015. PMID: 25649381 Free PMC article.

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