Humphries P - Search Results

1

Autosomal dominant retinitis pigmentosa (adRP): exclusion of a gene from three mapped loci provides evidence for the existence of a fourth locus.

Jordan SA, del Rio T, Soriano N, Garcia-Sandoval B, Kenna P, Ayuso C, Benitez J, Humphries P. Jordan SA, et al. Among authors: humphries p. Hum Mol Genet. 1992 Sep;1(6):411-5. doi: 10.1093/hmg/1.6.411. Hum Mol Genet. 1992. PMID: 1301915

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

On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa.

Aherne A, Kennan A, Kenna PF, McNally N, Lloyd DG, Alberts IL, Kiang AS, Humphries MM, Ayuso C, Engel PC, Gu JJ, Mitchell BS, Farrar GJ, Humphries P. Aherne A, et al. Among authors: humphries p, humphries mm. Hum Mol Genet. 2004 Mar 15;13(6):641-50. doi: 10.1093/hmg/ddh061. Hum Mol Genet. 2004. PMID: 14981049

4

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

5

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.

6

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

7

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.

8

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

9

Autosomal dominant retinitis pigmentosa: a new multi-allelic marker (D3S621) genetically linked to the disease locus (RP4).

Kumar-Singh R, Bradley DG, Farrar GJ, Lawler M, Jordan SA, Humphries P. Kumar-Singh R, et al. Among authors: humphries p. Hum Genet. 1995 Oct;96(4):502. doi: 10.1007/BF00191820. Hum Genet. 1995. PMID: 7557984 No abstract available.

10

A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex.

Humphries MM, Sheils DM, Farrar GJ, Kumar-Singh R, Kenna PF, Mansergh FC, Jordan SA, Young M, Humphries P. Humphries MM, et al. Among authors: humphries p. Hum Mutat. 1993;2(1):37-42. doi: 10.1002/humu.1380020107. Hum Mutat. 1993. PMID: 7682883

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