Heon E - Search Results

1

DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.

Vig A, Poulter JA, Ottaviani D, Tavares E, Toropova K, Tracewska AM, Mollica A, Kang J, Kehelwathugoda O, Paton T, Maynes JT, Wheway G, Arno G; Genomics England Research Consortium; Khan KN, McKibbin M, Toomes C, Ali M, Di Scipio M, Li S, Ellingford J, Black G, Webster A, Rydzanicz M, Stawiński P, Płoski R, Vincent A, Cheetham ME, Inglehearn CF, Roberts A, Heon E. Vig A, et al. Among authors: heon e. Genet Med. 2020 Dec;22(12):2041-2051. doi: 10.1038/s41436-020-0915-1. Epub 2020 Aug 5. Genet Med. 2020. PMID: 32753734 Free PMC article.

2

A molecular perspective on corneal dystrophies.

Vincent AL, Rootman D, Munier FL, Héon E. Vincent AL, et al. Among authors: heon e. Dev Ophthalmol. 2003;37:50-66. doi: 10.1159/000072038. Dev Ophthalmol. 2003. PMID: 12876829 Review.

3

Vincent A, McAlister C, Vandenhoven C, Héon E. Vincent A, et al. Among authors: heon e. Eye (Lond). 2011 Jan;25(1):113-8. doi: 10.1038/eye.2010.165. Epub 2010 Nov 12. Eye (Lond). 2011. PMID: 21072067 Free PMC article.

4

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. Among authors: heon e. Ophthalmic Genet. 2011 Jun;32(2):107-13. doi: 10.3109/13816810.2010.544366. Epub 2011 Jan 26. Ophthalmic Genet. 2011. PMID: 21268679

5

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. Among authors: heon e. Mol Vis. 2011;17:3262-70. Epub 2011 Dec 15. Mol Vis. 2011. PMID: 22194652 Free PMC article.

6

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. Among authors: heon e. Retina. 2012 Sep;32(8):1643-51. doi: 10.1097/IAE.0b013e318240a574. Retina. 2012. PMID: 22277927

7

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: heon e. Ophthalmic Genet. 2012 Sep;33(3):150-4. doi: 10.3109/13816810.2012.689411. Epub 2012 May 24. Ophthalmic Genet. 2012. PMID: 22626039

8

Outer retinal structural anomaly due to frameshift mutation in CACNA1F gene.

Vincent A, Héon E. Vincent A, et al. Among authors: heon e. Eye (Lond). 2012 Sep;26(9):1278-80. doi: 10.1038/eye.2012.125. Epub 2012 Jun 29. Eye (Lond). 2012. PMID: 22744390 Free PMC article. No abstract available.

9

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. Among authors: heon e. 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.

10

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. Among authors: heon e. 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

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