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303 results

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Page 1
Toward an elucidation of the molecular genetics of inherited retinal degenerations.
Farrar GJ, Carrigan M, Dockery A, Millington-Ward S, Palfi A, Chadderton N, Humphries M, Kiang AS, Kenna PF, Humphries P. Farrar GJ, et al. Among authors: humphries m, humphries p. Hum Mol Genet. 2017 Aug 1;26(R1):R2-R11. doi: 10.1093/hmg/ddx185. Hum Mol Genet. 2017. PMID: 28510639 Free PMC article. Review.
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
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
RNA interference-mediated suppression and replacement of human rhodopsin in vivo.
O'Reilly M, Palfi A, Chadderton N, Millington-Ward S, Ader M, Cronin T, Tuohy T, Auricchio A, Hildinger M, Tivnan A, McNally N, Humphries MM, Kiang AS, Humphries P, Kenna PF, Farrar GJ. O'Reilly M, et al. Among authors: humphries p, humphries mm. Am J Hum Genet. 2007 Jul;81(1):127-35. doi: 10.1086/519025. Epub 2007 May 23. Am J Hum Genet. 2007. PMID: 17564969 Free PMC article.
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
303 results