Kenna PF - Search Results

1

BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa.

Fadaie Z, Whelan L, Dockery A, Li CHZ, van den Born LI, Hoyng CB, Gilissen C, Corominas J, Rowlands C, Megaw R, Lampe AK, Cremers FPM, Farrar GJ, Ellingford JM, Kenna PF, Roosing S. Fadaie Z, et al. Among authors: kenna pf. J Med Genet. 2022 May;59(5):438-444. doi: 10.1136/jmedgenet-2020-107626. Epub 2021 Apr 28. J Med Genet. 2022. PMID: 33910932

2

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. Hum Mol Genet. 1992 Sep;1(6):411-5. doi: 10.1093/hmg/1.6.411. Hum Mol Genet. 1992. PMID: 1301915

3

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. Hum Mutat. 1992;1(3):240-7. doi: 10.1002/humu.1380010311. Hum Mutat. 1992. PMID: 1301931

4

Autosomal dominant retinitis pigmentosa: a novel mutation in the rhodopsin gene in the original 3q linked family.

Farrar GJ, Findlay JB, Kumar-Singh R, Kenna P, Humphries MM, Sharpe E, Humphries P. Farrar GJ, et al. Hum Mol Genet. 1992 Dec;1(9):769-71. doi: 10.1093/hmg/1.9.769. Hum Mol Genet. 1992. PMID: 1302614 No abstract available.

5

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. Genomics. 1992 Nov;14(3):805-7. doi: 10.1016/s0888-7543(05)80193-4. Genomics. 1992. PMID: 1427912

6

Evidence for nonallelic genetic heterogeneity in autosomal recessive retinitis pigmentosa.

Bleeker-Wagemakers LM, Gal A, Kumar-Singh R, van den Born LI, Li Y, Schwinger E, Sandkuijl LA, Bergen AA, Kenna P, Humphries P, et al. Bleeker-Wagemakers LM, et al. Genomics. 1992 Nov;14(3):811-2. doi: 10.1016/s0888-7543(05)80195-8. Genomics. 1992. PMID: 1427914

7

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. Am J Hum Genet. 1992 Mar;50(3):634-9. Am J Hum Genet. 1992. PMID: 1539599 Free PMC article.

8

On the molecular genetics of retinitis pigmentosa.

Humphries P, Kenna P, Farrar GJ. Humphries P, et al. Science. 1992 May 8;256(5058):804-8. doi: 10.1126/science.1589761. Science. 1992. PMID: 1589761 Review.

9

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. Nature. 1991 Dec 12;354(6353):478-80. doi: 10.1038/354478a0. Nature. 1991. PMID: 1749427

10

A sequence polymorphism in the human peripherin/RDS gene.

Farrar GJ, Kenna P, Jordan SA, Kumar-Singh R, Humphries P. Farrar GJ, et al. 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.

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