Gregory-Evans C - Search Results

1

Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans.

Berry V, Gregory-Evans C, Emmett W, Waseem N, Raby J, Prescott D, Moore AT, Bhattacharya SS. Berry V, et al. Eur J Hum Genet. 2013 Dec;21(12):1356-60. doi: 10.1038/ejhg.2013.52. Epub 2013 Mar 27. Eur J Hum Genet. 2013. PMID: 23531866 Free PMC article.

2

Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor.

Freund CL, Gregory-Evans CY, Furukawa T, Papaioannou M, Looser J, Ploder L, Bellingham J, Ng D, Herbrick JA, Duncan A, Scherer SW, Tsui LC, Loutradis-Anagnostou A, Jacobson SG, Cepko CL, Bhattacharya SS, McInnes RR. Freund CL, et al. Cell. 1997 Nov 14;91(4):543-53. doi: 10.1016/s0092-8674(00)80440-7. Cell. 1997. PMID: 9390563 Free article.

3

A new family of Greek origin maps to the CRD locus for autosomal dominant cone-rod dystrophy on 19q.

Papaioannou M, Bessant D, Payne A, Bellingham J, Rougas C, Loutradis-Anagnostou A, Gregory-Evans C, Balassopoulou A, Bhattacharya S. Papaioannou M, et al. J Med Genet. 1998 May;35(5):429-31. doi: 10.1136/jmg.35.5.429. J Med Genet. 1998. PMID: 9610810 Free PMC article.

4

Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q.

Kelsell RE, Gregory-Evans K, Gregory-Evans CY, Holder GE, Jay MR, Weber BH, Moore AT, Bird AC, Hunt DM. Kelsell RE, et al. Am J Hum Genet. 1998 Jul;63(1):274-9. doi: 10.1086/301905. Am J Hum Genet. 1998. PMID: 9634506 Free PMC article. No abstract available.

5

Refined genetic and physical positioning of the gene for Doyne honeycomb retinal dystrophy (DHRD).

Kermani S, Gregory-Evans K, Tarttelin EE, Bellingham J, Plant C, Bird AC, Fox M, Bhattacharya SS, Gregory-Evans CY. Kermani S, et al. Hum Genet. 1999 Jan;104(1):77-82. doi: 10.1007/s004390050913. Hum Genet. 1999. PMID: 10071196

6

Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase.

Gregory-Evans K, Kelsell RE, Gregory-Evans CY, Downes SM, Fitzke FW, Holder GE, Simunovic M, Mollon JD, Taylor R, Hunt DM, Bird AC, Moore AT. Gregory-Evans K, et al. Ophthalmology. 2000 Jan;107(1):55-61. doi: 10.1016/s0161-6420(99)00038-x. Ophthalmology. 2000. PMID: 10647719

7

Molecular genetic heterogeneity in autosomal dominant drusen.

Tarttelin EE, Gregory-Evans CY, Bird AC, Weleber RG, Klein ML, Blackburn J, Gregory-Evans K. Tarttelin EE, et al. J Med Genet. 2001 Jun;38(6):381-4. doi: 10.1136/jmg.38.6.381. J Med Genet. 2001. PMID: 11389162 Free PMC article.

8

Assignment of BCL2L11 to human chromosome band 2p13 with somatic cell and radiation hybrids.

Murray S, Halford S, Ebenezer ND, Gregory-Evans CY, Bhattacharya SS. Murray S, et al. Cytogenet Cell Genet. 2001;92(3-4):353. doi: 10.1159/000056930. Cytogenet Cell Genet. 2001. PMID: 11435715 No abstract available.

9

SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma.

Gregory-Evans CY, Moosajee M, Hodges MD, Mackay DS, Game L, Vargesson N, Bloch-Zupan A, Rüschendorf F, Santos-Pinto L, Wackens G, Gregory-Evans K. Gregory-Evans CY, et al. Hum Mol Genet. 2007 Oct 15;16(20):2482-93. doi: 10.1093/hmg/ddm204. Epub 2007 Jul 25. Hum Mol Genet. 2007. PMID: 17656375

10

Incidence and patterns of detection and management of childhood-onset hereditary retinal disorders in the UK.

Hamblion EL, Moore AT, Rahi JS; British Childhood Onset Hereditary Retinal Disorders Network. Hamblion EL, et al. Br J Ophthalmol. 2012 Mar;96(3):360-5. doi: 10.1136/bjo.2010.201178. Epub 2011 Jun 7. Br J Ophthalmol. 2012. PMID: 21653210

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