P. Humphries

发表

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.

Ribozyme-based therapeutic approaches for autosomal dominant retinitis pigmentosa.

M. O'Reilly, P. Humphries, G. Farrar, 2000, Investigative ophthalmology & visual science.

A mutation-independent therapeutic strategem for osteogenesis imperfecta.

P. Humphries, G. Farrar, P. Kenna, 1999, Antisense & nucleic acid drug development.

Structural and functional rescue of murine rod photoreceptors by human rhodopsin transgene.

P. Sieving, N. Khan, P. Humphries, 1999, Human molecular genetics.

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

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

Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-q32.1 in an inbred and genetically heterogeneous disease population.

L. Sandkuijl, A. Bergen, A. Westerveld, 1994, Genomics.

Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10).

Alison L. Reynolds, A. Kennan, A. Aherne, 2008, Human molecular genetics.

Enhancement of Outflow Facility in the Murine Eye by Targeting Selected Tight-Junctions of Schlemm’s Canal Endothelia

C. R. Ethier, C. O'brien, J. Callanan, 2017, Scientific Reports.

Systemic low-molecular weight drug delivery to pre-selected neuronal regions

Finnian Hanrahan, P. Humphries, O. Gobbo, 2011, EMBO molecular medicine.

Autosomal dominant retinitis pigmentosa: a novel mutation in the rhodopsin gene in the original 3q linked family.

P. Humphries, P. Kenna, R. Kumar‐Singh, 1992, Human molecular 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, 1992, Genomics.

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): localization of an ADRP gene to the long arm of chromosome 3.

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

Gene-Based Medicines Targeting Genetic Defects Directly and Molecular Pathologies Common to Multiple Forms of Disease

P. Humphries, G. Farrar, P. Kenna, 2012 .

Human nidogen gene: identification of multiple RFLP and exclusion as candidate gene in a family with epidermolysis bullosa (EBS2) with evidence for linkage to chromosome 1.

J. Uitto, P. Humphries, M. Humphries, 1990, The Journal of investigative dermatology.

The pathophysiology of cigarette smoking and age-related macular degeneration.

M. Cahill, P. Humphries, S. Ní Dhubhghaill, 2010, Advances in experimental medicine and biology.