Kelsell RE - Search Results

1

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

2

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

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

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.

5

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

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

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

8

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.

9

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.

10

Biochemical analysis of a dimerization domain mutation in RetGC-1 associated with dominant cone-rod dystrophy.

Tucker CL, Woodcock SC, Kelsell RE, Ramamurthy V, Hunt DM, Hurley JB. Tucker CL, et al. Among authors: kelsell re. Proc Natl Acad Sci U S A. 1999 Aug 3;96(16):9039-44. doi: 10.1073/pnas.96.16.9039. Proc Natl Acad Sci U S A. 1999. PMID: 10430891 Free PMC article.

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