Kelsell RE - Search Results

1

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. Among authors: kelsell re. Ophthalmology. 2000 Jan;107(1):55-61. doi: 10.1016/s0161-6420(99)00038-x. Ophthalmology. 2000. PMID: 10647719

2

Clinical features of progressive bifocal chorioretinal atrophy: a retinal dystrophy linked to chromosome 6q.

Godley BF, Tiffin PA, Evans K, Kelsell RE, Hunt DM, Bird AC. Godley BF, et al. Among authors: kelsell re. Ophthalmology. 1996 Jun;103(6):893-8. doi: 10.1016/s0161-6420(96)30590-3. Ophthalmology. 1996. PMID: 8643244

3

Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p.

Kelsell RE, Evans K, Gregory CY, Moore AT, Bird AC, Hunt DM. Kelsell RE, et al. Hum Mol Genet. 1997 Apr;6(4):597-600. doi: 10.1093/hmg/6.4.597. Hum Mol Genet. 1997. PMID: 9097965

4

Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.

Kelsell RE, Gregory-Evans K, Payne AM, Perrault I, Kaplan J, Yang RB, Garbers DL, Bird AC, Moore AT, Hunt DM. Kelsell RE, et al. Hum Mol Genet. 1998 Jul;7(7):1179-84. doi: 10.1093/hmg/7.7.1179. Hum Mol Genet. 1998. PMID: 9618177

5

Phenotype of a British North Carolina macular dystrophy family linked to chromosome 6q.

Reichel MB, Kelsell RE, Fan J, Gregory CY, Evans K, Moore AT, Hunt DM, Fitzke FW, Bird AC. Reichel MB, et al. Among authors: kelsell re. Br J Ophthalmol. 1998 Oct;82(10):1162-8. doi: 10.1136/bjo.82.10.1162. Br J Ophthalmol. 1998. PMID: 9924305 Free PMC article.

6

Autosomal dominant cone-rod dystrophy with mutations in the guanylate cyclase 2D gene encoding retinal guanylate cyclase-1.

Downes SM, Payne AM, Kelsell RE, Fitzke FW, Holder GE, Hunt DM, Moore AT, Bird AC. Downes SM, et al. Among authors: kelsell re. Arch Ophthalmol. 2001 Nov;119(11):1667-73. doi: 10.1001/archopht.119.11.1667. Arch Ophthalmol. 2001. PMID: 11709018

7

Genetic linkage analysis of a novel syndrome comprising North Carolina-like macular dystrophy and progressive sensorineural hearing loss.

Francis PJ, Johnson S, Edmunds B, Kelsell RE, Sheridan E, Garrett C, Holder GE, Hunt DM, Moore AT. Francis PJ, et al. Among authors: kelsell re. Br J Ophthalmol. 2003 Jul;87(7):893-8. doi: 10.1136/bjo.87.7.893. Br J Ophthalmol. 2003. PMID: 12812894 Free PMC article.

8

Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q.

Kelsell RE, Godley BF, Evans K, Tiffin PA, Gregory CY, Plant C, Moore AT, Bird AC, Hunt DM. Kelsell RE, et al. Hum Mol Genet. 1995 Sep;4(9):1653-6. doi: 10.1093/hmg/4.9.1653. Hum Mol Genet. 1995. PMID: 8541856

9

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.

10

A retGC-1 mutation in autosomal dominant cone-rod dystrophy.

Perrault I, Rozet JM, Gerber S, Kelsell RE, Souied E, Cabot A, Hunt DM, Munnich A, Kaplan J. Perrault I, et al. Among authors: kelsell re. Am J Hum Genet. 1998 Aug;63(2):651-4. doi: 10.1086/301985. Am J Hum Genet. 1998. PMID: 9683616 Free PMC article. No abstract available.

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