R. Kelsell

发表

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

D. Hunt, A. Bird, A. Moore, 1998, Human molecular genetics.

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

J D Mollon, D M Hunt, F W Fitzke, 2000, Ophthalmology.

Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1).

U. Felbor, D. Hunt, A. Gehrig, 1998, Journal of medical genetics.

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

D. Hunt, A. Bird, M. Jay, 1998, American journal of human genetics.

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

A. Munnich, D. Hunt, E. Souied, 1998, American journal of human genetics.

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

D. Hunt, A. Bird, F. Fitzke, 2001, Archives of ophthalmology.

Hybridization and competition hybridization of Southern blots.

R. Kelsell, 1996, Methods in molecular biology.

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

J. Hurley, D. Hunt, V. Ramamurthy, 1999, Proceedings of the National Academy of Sciences of the United States of America.

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

D. Hunt, A. Bird, K. Evans, 1996, Ophthalmology.

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

D. Hunt, A. Bird, A. Moore, 1997, Human molecular genetics.

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

A. Bird, A. Moore, C. Gregory, 1995, Human molecular genetics.

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

D. Hunt, B. Edmunds, P. Francis, 2003, The British journal of ophthalmology.