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Items: 17


A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration.

Carrigan M, Duignan E, Humphries P, Palfi A, Kenna PF, Farrar GJ.

Br J Ophthalmol. 2016 Apr;100(4):495-500. doi: 10.1136/bjophthalmol-2015-306939. Epub 2015 Oct 15.


Inherited retinal diseases in dogs: advances in gene/mutation discovery.

Miyadera K.

Dobutsu Iden Ikushu Kenkyu. 2014;42(2):79-89.


My career path for developing gene therapy for blinding diseases: the importance of mentors, collaborators, and opportunities.

Bennett J.

Hum Gene Ther. 2014 Aug;25(8):663-70. doi: 10.1089/hum.2014.2529. No abstract available.


Progress in gene therapy for neurological disorders.

Simonato M, Bennett J, Boulis NM, Castro MG, Fink DJ, Goins WF, Gray SJ, Lowenstein PR, Vandenberghe LH, Wilson TJ, Wolfe JH, Glorioso JC.

Nat Rev Neurol. 2013 May;9(5):277-91. doi: 10.1038/nrneurol.2013.56. Epub 2013 Apr 23. Review. Erratum in: Nat Rev Neurol. 2013 Jun;9(6):298.


Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies.

Miyadera K, Acland GM, Aguirre GD.

Mamm Genome. 2012 Feb;23(1-2):40-61. doi: 10.1007/s00335-011-9361-3. Epub 2011 Nov 8. Review.


Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects.

Pomares E, Riera M, Permanyer J, Méndez P, Castro-Navarro J, Andrés-Gutiérrez A, Marfany G, Gonzàlez-Duarte R.

Eur J Hum Genet. 2010 Jan;18(1):118-24. doi: 10.1038/ejhg.2009.114. Epub .


Improved retinal function in a mouse model of dominant retinitis pigmentosa following AAV-delivered gene therapy.

Chadderton N, Millington-Ward S, Palfi A, O'Reilly M, Tuohy G, Humphries MM, Li T, Humphries P, Kenna PF, Farrar GJ.

Mol Ther. 2009 Apr;17(4):593-9. doi: 10.1038/mt.2008.301. Epub 2009 Jan 27.


Proteomic analysis of the retina: removal of RPE alters outer segment assembly and retinal protein expression.

Wang X, Nookala S, Narayanan C, Giorgianni F, Beranova-Giorgianni S, McCollum G, Gerling I, Penn JS, Jablonski MM.

Glia. 2009 Mar;57(4):380-92. doi: 10.1002/glia.20765.


Clinical and molecular genetic characterisation of a family segregating autosomal dominant retinitis pigmentosa and sensorineural deafness.

Kenna P, Mansergh F, Millington-Ward S, Erven A, Kumar-Singh R, Brennan R, Farrar GJ, Humphries P.

Br J Ophthalmol. 1997 Mar;81(3):207-13.


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

Kumar-Singh R, Wang H, Humphries P, Farrar GJ.

Am J Hum Genet. 1993 Feb;52(2):319-26.


Hereditary retinopathies: insights into a complex genetic aetiology.

Humphries P.

Br J Ophthalmol. 1993 Aug;77(8):469-70. No abstract available.


Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression.

Kim RY, Fitzke FW, Moore AT, Jay M, Inglehearn C, Arden GB, Bhattacharya SS, Bird AC.

Br J Ophthalmol. 1995 Jan;79(1):23-7.


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.

Am J Hum Genet. 1992 Mar;50(3):634-9.


Recombination between rhodopsin and locus D3S47 (C17) in rhodopsin retinitis pigmentosa families.

Inglehearn CF, Lester DH, Bashir R, Atif U, Keen TJ, Sertedaki A, Lindsey J, Jay M, Bird AC, Farrar GJ, et al.

Am J Hum Genet. 1992 Mar;50(3):590-7.

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