Humphries P - Search Results

1

Polymorphisms and rare sequence variants at the ROM1 locus.

Bascom RA, Liu L, Humphries P, Fishman GA, Murray JC, McInnes RR. Bascom RA, et al. Among authors: humphries p. Hum Mol Genet. 1993 Nov;2(11):1975-7. doi: 10.1093/hmg/2.11.1975. Hum Mol Genet. 1993. PMID: 7904211

2

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.

3

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

4

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.

5

Exclusion of the involvement of all known retinitis pigmentosa loci in the disease present in a family of Irish origin provides evidence for a sixth autosomal dominant locus (RP8).

Kumar-Singh R, Farrar GJ, Mansergh F, Kenna P, Bhattacharya S, Gal A, Humphries P. Kumar-Singh R, et al. Among authors: humphries p. Hum Mol Genet. 1993 Jul;2(7):875-8. doi: 10.1093/hmg/2.7.875. Hum Mol Genet. 1993. PMID: 8364569

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

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

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.

9

Autosomal dominant retinitis pigmentosa: no evidence for nonallelic genetic heterogeneity on 3q.

Kumar-Singh R, Wang H, Humphries P, Farrar GJ. Kumar-Singh R, et al. Among authors: humphries p. Am J Hum Genet. 1993 Feb;52(2):319-26. Am J Hum Genet. 1993. PMID: 8430695 Free PMC article.

10

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

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