Humphries P - Search Results

1

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

Farrar GJ, Jordan SA, Kenna P, Humphries MM, Kumar-Singh R, McWilliam P, Allamand V, Sharp E, Humphries P. Farrar GJ, et al. Among authors: humphries p, humphries mm. Genomics. 1991 Dec;11(4):870-4. doi: 10.1016/0888-7543(91)90009-4. Genomics. 1991. PMID: 1783395

2

Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice.

Kennan A, Aherne A, Palfi A, Humphries M, McKee A, Stitt A, Simpson DA, Demtroder K, Orntoft T, Ayuso C, Kenna PF, Farrar GJ, Humphries P. Kennan A, et al. Among authors: humphries m, humphries p. Hum Mol Genet. 2002 Mar 1;11(5):547-57. doi: 10.1093/hmg/11.5.547. Hum Mol Genet. 2002. PMID: 11875049

3

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

Tam LC, Kiang AS, Kennan A, Kenna PF, Chadderton N, Ader M, Palfi A, Aherne A, Ayuso C, Campbell M, Reynolds A, McKee A, Humphries MM, Farrar GJ, Humphries P. Tam LC, et al. Among authors: humphries p, humphries mm. Hum Mol Genet. 2008 Jul 15;17(14):2084-100. doi: 10.1093/hmg/ddn107. Epub 2008 Apr 1. Hum Mol Genet. 2008. PMID: 18385099

4

Prevention of autosomal dominant retinitis pigmentosa by systemic drug therapy targeting heat shock protein 90 (Hsp90).

Tam LC, Kiang AS, Campbell M, Keaney J, Farrar GJ, Humphries MM, Kenna PF, Humphries P. Tam LC, et al. Among authors: humphries p, humphries mm. Hum Mol Genet. 2010 Nov 15;19(22):4421-36. doi: 10.1093/hmg/ddq369. Epub 2010 Sep 2. Hum Mol Genet. 2010. PMID: 20817636 Free PMC article.

5

Properties and Therapeutic Implications of an Enigmatic D477G RPE65 Variant Associated with Autosomal Dominant Retinitis Pigmentosa.

Kiang AS, Kenna PF, Humphries MM, Ozaki E, Koenekoop RK, Campbell M, Farrar GJ, Humphries P. Kiang AS, et al. Among authors: humphries p, humphries mm. Genes (Basel). 2020 Nov 27;11(12):1420. doi: 10.3390/genes11121420. Genes (Basel). 2020. PMID: 33261050 Free PMC article. Review.

6

On the genetics of retinitis pigmentosa and on mutation-independent approaches to therapeutic intervention.

Farrar GJ, Kenna PF, Humphries P. Farrar GJ, et al. Among authors: humphries p. EMBO J. 2002 Mar 1;21(5):857-64. doi: 10.1093/emboj/21.5.857. EMBO J. 2002. PMID: 11867514 Free PMC article. Review.

7

Murine model of autosomal dominant retinitis pigmentosa generated by targeted deletion at codon 307 of the rds-peripherin gene.

McNally N, Kenna PF, Rancourt D, Ahmed T, Stitt A, Colledge WH, Lloyd DG, Palfi A, O'Neill B, Humphries MM, Humphries P, Farrar GJ. McNally N, et al. Among authors: humphries p, humphries mm. Hum Mol Genet. 2002 May 1;11(9):1005-16. doi: 10.1093/hmg/11.9.1005. Hum Mol Genet. 2002. PMID: 11978760

8

Improved retinal function in a mouse model of dominant retinitis pigmentosa following AAV-delivered gene therapy.

Chadderton N, Millington-Ward S, Palfi A, O'Reilly M, Tuohy G, Humphries MM, Li T, Humphries P, Kenna PF, Farrar GJ. Chadderton N, et al. Among authors: humphries p, humphries mm. Mol Ther. 2009 Apr;17(4):593-9. doi: 10.1038/mt.2008.301. Epub 2009 Jan 27. Mol Ther. 2009. PMID: 19174761 Free PMC article.

9

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

Bradley DG, Farrar GJ, Sharp EM, Kenna P, Humphries MM, McConnell DJ, Daiger SP, McWilliam P, Humphries P. Bradley DG, et al. Among authors: humphries p, humphries mm. Am J Hum Genet. 1989 Apr;44(4):570-6. Am J Hum Genet. 1989. PMID: 2564733 Free PMC article.

10

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

Farrar GJ, McWilliam P, Sharp EM, Kenna P, Bradley DG, Humphries MM, McConnell DJ, Humphries P. Farrar GJ, et al. Among authors: humphries p, humphries mm. Genomics. 1989 Oct;5(3):612-8. doi: 10.1016/0888-7543(89)90030-x. Genomics. 1989. PMID: 2613243

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