Humphries P - Search Results

1

A sequence polymorphism in the human peripherin/RDS gene.

Farrar GJ, Kenna P, Jordan SA, Kumar-Singh R, Humphries P. Farrar GJ, et al. Among authors: humphries p. Nucleic Acids Res. 1991 Dec 25;19(24):6982. doi: 10.1093/nar/19.24.6982-a. Nucleic Acids Res. 1991. PMID: 1762948 Free PMC article.

2

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

3

RNAi-based suppression and replacement of rds-peripherin in retinal organotypic culture.

Palfi A, Ader M, Kiang AS, Millington-Ward S, Clark G, O'Reilly M, McMahon HP, Kenna PF, Humphries P, Farrar GJ. Palfi A, et al. Among authors: humphries p. Hum Mutat. 2006 Mar;27(3):260-8. doi: 10.1002/humu.20287. Hum Mutat. 2006. PMID: 16419083

4

Single nucleotide polymorphism in exon 2 of the BCP gene on 7q31-q35.

Jordan SA, Humphries P. Jordan SA, et al. Among authors: humphries p. Hum Mol Genet. 1994 Oct;3(10):1915. doi: 10.1093/hmg/3.10.1915. Hum Mol Genet. 1994. PMID: 7849733 No abstract available.

5

Three sequence polymorphisms in the PDC gene.

Mansergh FC, Jordan SA, Farrar GJ, Kumar-Singh R, Gal A, Bhattacharya S, Humphries P. Mansergh FC, et al. Among authors: humphries p. Hum Mol Genet. 1994 Nov;3(11):2077. Hum Mol Genet. 1994. PMID: 7874132 No abstract available.

6

Alu polymorphism in the human type I Keratin (KRT14) gene.

Humphries MM, Sheils DM, Jordan SA, Farrar GJ, Kumar-Singh R, Humphries P. Humphries MM, et al. Among authors: humphries p. Hum Mol Genet. 1992 Sep;1(6):453. doi: 10.1093/hmg/1.6.453. Hum Mol Genet. 1992. PMID: 1284533 No abstract available.

7

Polymorphic variation within "conserved" sequences at the 3' end of the human RDS gene which results in amino acid substitutions.

Jordan SA, Farrar GJ, Kenna P, Humphries P. Jordan SA, et al. Among authors: humphries p. Hum Mutat. 1992;1(3):240-7. doi: 10.1002/humu.1380010311. Hum Mutat. 1992. PMID: 1301931

8

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

Farrar GJ, Kenna P, Jordan SA, Kumar-Singh R, Humphries MM, Sharp EM, Sheils D, Humphries P. Farrar GJ, et al. Among authors: humphries p, humphries mm. Genomics. 1992 Nov;14(3):805-7. doi: 10.1016/s0888-7543(05)80193-4. Genomics. 1992. PMID: 1427912

9

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

Jordan SA, Farrar GJ, Kumar-Singh R, Kenna P, Humphries MM, Allamand V, Sharp EM, Humphries P. Jordan SA, et al. Among authors: humphries p, humphries mm. Am J Hum Genet. 1992 Mar;50(3):634-9. Am J Hum Genet. 1992. PMID: 1539599 Free PMC article.

10

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

Farrar GJ, Kenna P, Jordan SA, Kumar-Singh R, Humphries MM, Sharp EM, Sheils DM, Humphries P. Farrar GJ, et al. Among authors: humphries p, humphries mm. Nature. 1991 Dec 12;354(6353):478-80. doi: 10.1038/354478a0. Nature. 1991. PMID: 1749427

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