E. Sharp

发表

Autosomal dominant retinitis pigmentosa: exclusion of the gene from the short arm of chromosome 1 including the region surrounding the rhesus locus.

D. McConnell, S. Daiger, D. Bradley, 1989, American journal of human genetics.

Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q

P. Humphries, C. Ayuso, P. Kenna, 1993, Nature Genetics.

Autosomal dominant retinitis pigmentosa: exclusion of a gene from extensive regions of chromosomes 6, 13, 20, and 21.

D. McConnell, D. Bradley, P. Humphries, 1989, Genomics.

A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa

P. Humphries, P. Kenna, S. Jordan, 1991, Nature.

Autosomal dominant retinitis pigmentosa (ADRP): localization of an ADRP gene to the long arm of chromosome 3.

D. McConnell, S. Daiger, D. Bradley, 1989, Genomics.

Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline----histidine substitution (codon 23) in pedigrees from Europe.

M. Jay, S. Bhattacharya, D. Bradley, 1990, American journal of human genetics.

Autosomal dominant retinitis pigmentosa: linkage to rhodopsin and evidence for genetic heterogeneity.

H. Eiberg, D. Bradley, J. Trofatter, 1990, Genomics.

Autosomal dominant retinitis pigmentosa (adRP; RP6): cosegregation of RP6 and the peripherin-RDS locus in a late-onset family of Irish origin.

P. Humphries, P. Kenna, S. Jordan, 1992, American journal of human genetics.

Autosomal dominant retinitis pigmentosa: localization of a disease gene (RP6) to the short arm of chromosome 6.

P. Humphries, P. Kenna, S. Jordan, 1991, Genomics.

Epidermolysis bullosa: evidence for linkage to genetic markers on chromosome 1 in a family with the autosomal dominant simplex form.

D. Bradley, P. Kenna, E. Gaffney, 1990, Genomics.

EXTENSIVE GENETIC HETEROGENEITY IN AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA

S. Bhattacharya, C. Inglehearn, P. Hargrave, 1993 .

Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree.

P. Humphries, P. Kenna, S. Jordan, 1992, Genomics.

Autosomal dominant retinitis pigmentosa: a mutation in codon 178 of the rhodopsin gene in two families of Celtic origin.

P. Humphries, P. Kenna, S. Jordan, 1991, Genomics.

Linkage analysis of human chromosome 4: exclusion of autosomal dominant retinitis pigmentosa (ADRP) and detection of new linkage groups.

D. McConnell, S. Daiger, D. Bradley, 1989, Cytogenetics and cell genetics.

Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree.

P. Humphries, P. Kenna, S. Jordan, 1993, Genomics.

Fine mapping of the autosomal recessive retinitis pigmentosa locus (RP12) on chromosome 1q; exclusion of the phosducin gene (PDC).

A. Bergen, A. Westerveld, L. I. van den Born, 1996, Cytogenetics and Cell Genetics.