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MR Jay

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TOP 3
Dawn L Thiselton; Ilaria Zito; C Plant; MR Jay; Shirley V Hodgson; Alan C Bird; Shomi S Bhattacharya; Alison J Hardcastle
Novel frameshift mutations in the RP2 gene and polymorphic variants.
Christina J Flaxel; MR Jay; Dawn L Thiselton; M Nayudu; Alison J Hardcastle; A Wright; Alan C Bird
Difference between RP2 and RP3 phenotypes in X linked retinitis pigmentosa.
Alison J Hardcastle; Dawn L Thiselton; L Van Maldergem; bratin saha; MR Jay; C Plant; R Taylor; Alan C Bird; S Bhattacharya
Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study.

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All Publications

2000: Dawn L Thiselton; Ilaria Zito; C Plant; MR Jay; Shirley V Hodgson; Alan C Bird; Shomi S Bhattacharya; Alison J Hardcastle
Novel frameshift mutations in the RP2 gene and polymorphic variants.
Human mutation 2000;15(6):580.
1999: Christina J Flaxel; MR Jay; Dawn L Thiselton; M Nayudu; Alison J Hardcastle; A Wright; Alan C Bird
Difference between RP2 and RP3 phenotypes in X linked retinitis pigmentosa.
The British journal of ophthalmology 1999;83(10):1144-8.
1999: Alison J Hardcastle; Dawn L Thiselton; L Van Maldergem; bratin saha; MR Jay; C Plant; R Taylor; Alan C Bird; S Bhattacharya
Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study.
American journal of human genetics 1999;64(4):1210-5.
1997: Alison J Hardcastle; Z K David-Gray; MR Jay; Alan C Bird; Shomi S Bhattacharya
Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp.
Investigative ophthalmology & visual science 1997;38(13):2750-5.
1997: K Evans; CY Gregory; S D Wijesuriya; S Kermani; MR Jay; C Plant; Alan C Bird
Assessment of the phenotypic range seen in Doyne honeycomb retinal dystrophy.
Archives of ophthalmology 1997;115(7):904-10.
1996: M al-Maghtheh; Eranga N Vithana; Emma E Tarttelin; MR Jay; K Evans; T Moore; Shomi Bhattacharya; Chris F Inglehearn
Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype.
American journal of human genetics 1996;59(4):864-71.
1996: Alfons Meindl; K Dry; K Herrmann; F Manson; Alfredo Ciccodicola; A Edgar; M R Carvalho; H Achatz; Heide Hellebrand; A Lennon; Carmen Migliaccio; K Porter; Eberhart Zrenner; A Bird; MR Jay; B Lorenz; B Wittwer; Michele D'Urso; Thomas Meitinger; A Wright
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3).
Nature genetics 1996;13(1):35-42.
1996: MR Jay; C Plant; K Evans; C Y Gregory
Doyne revisited.
Eye (London, England) 1996;10 ( Pt 4)():469-72.
1995: MR Jay
Ophthalmic genetics: a genealogical guide to sources in England and Wales.
Journal of medical genetics 1995;32(12):946-50.
1995: K Evans; M al-Maghtheh; Frederick W Fitzke; Anthony T Moore; MR Jay; Chris F Inglehearn; Geoffrey B Arden; Alan C Bird
Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q.
The British journal of ophthalmology 1995;79(9):841-6.
1995: C Y Gregory; S Wijesuriya; K Evans; MR Jay; Alan C Bird; Shomi S Bhattacharya
Linkage refinement localises Sorsby fundus dystrophy between markers D22S275 and D22S278.
Journal of medical genetics 1995;32(3):240-1.
1995: R Y Kim; Frederick W Fitzke; Anthony T Moore; MR Jay; Chris F Inglehearn; Geoffrey B Arden; Shomi S Bhattacharya; Alan C Bird
Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression.
The British journal of ophthalmology 1995;79(1):23-7.
1994: M A Aldred; Peter Teague; MR Jay; S Bundey; R M Redmond; B Jay; A C Bird; S S Bhattacharya; Alan F Wright
Retinitis pigmentosa families showing apparent X linked inheritance but unlinked to the RP2 or RP3 loci.
Journal of medical genetics 1994;31(11):848-52.
1994: Peter Teague; M A Aldred; MR Jay; M Dempster; C Harrison; Andrew D Carothers; L J Hardwick; H J Evans; L Strain; D J Brock
Heterogeneity analysis in 40 X-linked retinitis pigmentosa families.
American journal of human genetics 1994;55(1):105-11.
1994: Sarah L Owens; Frederick W Fitzke; Chris F Inglehearn; MR Jay; T Jeffrey Keen; Geoffrey B Arden; Shomi S Bhattacharya; Alan C Bird
Ocular manifestations in autosomal dominant retinitis pigmentosa with a Lys-296-Glu rhodopsin mutation at the retinal binding site.
The British journal of ophthalmology 1994;78(5):353-8.
1994: M al-Maghtheh; Chris F Inglehearn; T Jeffrey Keen; K Evans; Anthony T Moore; MR Jay; Alan C Bird; Shomi S Bhattacharya
Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19.
Human molecular genetics 1994;3(2):351-4.
1994: J J Wroblewski; J A Wells; A Eckstein; Frederick W Fitzke; C Jubb; T Jeffrey Keen; Chris F Inglehearn; Shomi Bhattacharya; Geoffrey B Arden; MR Jay
Macular dystrophy associated with mutations at codon 172 in the human retinal degeneration slow gene.
Ophthalmology 1994;101(1):12-22.
1994: M al-Maghtheh; Chris F Inglehearn; P Lunt; MR Jay; A Bird; Shomi Bhattacharya
Two new rhodopsin transversion mutations (L40R; M216K) in families with autosomal dominant retinitis pigmentosa.
Human mutation 1994;3(4):409-10.
1993: R Y Kim; M al-Maghtheh; Frederick W Fitzke; Geoffrey B Arden; MR Jay; Shomi S Bhattacharya; Alan C Bird
Dominant retinitis pigmentosa associated with two rhodopsin gene mutations. Leu-40-Arg and an insertion disrupting the 5'-splice junction of exon 5.
Archives of ophthalmology 1993;111(11):1518-24.
1993: Anthony T Moore; Frederick W Fitzke; MR Jay; Geoffrey B Arden; Chris F Inglehearn; T Jeffrey Keen; Shomi S Bhattacharya; Alan C Bird
Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychophysical, and molecular genetic study.
The British journal of ophthalmology 1993;77(8):473-9.
1993: Chris F Inglehearn; S A Carter; T Jeffrey Keen; J Lindsey; A M Stephenson; Rumaisa Bashir; M al-Maghtheh; Anthony T Moore; MR Jay; Alan C Bird
A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p.
Nature genetics 1993;4(1):51-3.
1993: J Wells; J Wroblewski; J Keen; Chris F Inglehearn; C Jubb; A Eckstein; MR Jay; Geoffrey B Arden; Shomi Bhattacharya; Frederick W Fitzke
Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.
Nature genetics 1993;3(3):213-8.
1993: R M Redmond; J I Vaughan; MR Jay; B Jay
In-utero diagnosis of Norrie disease by ultrasonography.
Ophthalmic paediatrics and genetics 1993;14(1):1-3.
1992: MR Jay; Alan C Bird; A N Moore; B Jay
Nine generations of a family with autosomal dominant retinitis pigmentosa and evidence of variable expressivity from census records.
Journal of medical genetics 1992;29(12):906-10.
1992: M A Aldred; K L Dry; D M Sharp; D B Van Dorp; J Brown; L J Hardwick; D H Lester; F E Pryde; Peter Teague; MR Jay
Linkage analysis in X-linked congenital stationary night blindness.
Genomics 1992;14(1):99-104.
1992: Rumaisa Bashir; Chris F Inglehearn; T Jeffrey Keen; J Lindsey; U Atif; S A Carter; A M Stephenson; A Jackson; MR Jay; Alan C Bird
Exclusion of chromosome 6 and 8 locations in nonrhodopsin autosomal dominant retinitis pigmentosa families: further locus heterogeneity in adRP.
Genomics 1992;14(1):191-3.
1992: Chris F Inglehearn; T Jeffrey Keen; Rumaisa Bashir; MR Jay; Frederick W Fitzke; Alan C Bird; A Crombie; Shomi Bhattacharya
A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa.
Human molecular genetics 1992;1(1):41-5.
1992: Chris F Inglehearn; D H Lester; Rumaisa Bashir; U Atif; T Jeffrey Keen; A Sertedaki; J Lindsey; MR Jay; Alan C Bird; G Jane Farrar
Recombination between rhodopsin and locus D3S47 (C17) in rhodopsin retinitis pigmentosa families.
American journal of human genetics 1992;50(3):590-7.
1991: S M Holloway; L Strain; A E Shrimpton; Alan F Wright; M A Aldred; D Brosnahan; H Hammer; MR Jay; D J Brock
Risk calculation in retinitis pigmentosa.
American journal of human genetics 1991;49(5):1094-8.
1991: T Jeffrey Keen; Chris F Inglehearn; D H Lester; Rumaisa Bashir; MR Jay; Alan C Bird; B Jay; Shomi S Bhattacharya
Autosomal dominant retinitis pigmentosa: four new mutations in rhodopsin, one of them in the retinal attachment site.
Genomics 1991;11(1):199-205.
1991: Alan F Wright; S S Bhattacharya; M A Aldred; MR Jay; Andrew D Carothers; N S Thomas; A C Bird; B Jay; H J Evans
Genetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred.
Journal of medical genetics 1991;28(7):453-7.
1991: MR Jay
The use of diagnostic registers.
Ophthalmic paediatrics and genetics 1991;12(2):65-71.
1991: Chris F Inglehearn; Rumaisa Bashir; D H Lester; MR Jay; Alan C Bird; Shomi S Bhattacharya
A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa.
American journal of human genetics 1991;48(1):26-30.
1990: D H Lester; Chris F Inglehearn; Rumaisa Bashir; H Ackford; L Esakowitz; MR Jay; Alan C Bird; A F Wright; Surinder S Papiha; Shomi S Bhattacharya
Linkage to D3S47 (C17) in one large autosomal dominant retinitis pigmentosa family and exclusion in another: confirmation of genetic heterogeneity.
American journal of human genetics 1990;47(3):536-41.
1990: Alan F Wright; Robert L Nussbaum; S S Bhattacharya; MR Jay; J G Lesko; H J Evans; B Jay
Linkage studies and deletion screening in choroideremia.
Journal of medical genetics 1990;27(8):496-8.
1990: Chris F Inglehearn; MR Jay; D H Lester; Rumaisa Bashir; B Jay; Alan C Bird; A F Wright; H J Evans; Surinder S Papiha; Shomi S Bhattacharya
No evidence for linkage between late onset autosomal dominant retinitis pigmentosa and chromosome 3 locus D3S47 (C17): evidence for genetic heterogeneity.
Genomics 1990;6(1):168-73.
1990: Chris F Inglehearn; Surinder S Papiha; MR Jay; A F Wright; A T Moore; Shomi S Bhattacharya
Linkage of internal minisatellite loci on chromosome 1 and exclusion of autosomal dominant retinitis pigmentosa proximal to rhesus.
Journal of medical genetics 1990;27(1):14-6.
1989: S Lindsay; MR Jay; D J Bower; G Adam; Chris F Inglehearn; P G Sealey; Surinder S Papiha; Shomi S Bhattacharya
X-linked retinitis pigmentosa: a molecular genetic approach to isolating the defective genes.
Progress in clinical and biological research 1989;314():83-97.
1988: C Mitchell; K Nicolaides; J Kingston; J Hungerford; MR Jay; John Kenneth Cowell
Prenatal exclusion of hereditary retinoblastoma.
Lancet 1988;1(8589):826.
1988: MR Jay; John Kenneth Cowell; J Hungerford
Register of retinoblastoma: preliminary results.
Eye (London, England) 1988;2 ( Pt 1)():102-5.
1987: Alan F Wright; S S Bhattacharya; J F Clayton; M Dempster; P Tippett; C M McKeown; MR Jay; B Jay; A C Bird
Linkage relationships between X-linked retinitis pigmentosa and nine short-arm markers: exclusion of the disease locus from Xp21 and localization to between DXS7 and DXS14.
American journal of human genetics 1987;41(4):635-44.
1986: MR Jay; Alan F Wright; J F Clayton; M Deans; M Dempster; S S Bhattacharya; B Jay
A genetic linkage study of choroideremia.
Ophthalmic paediatrics and genetics 1986;7(3):201-4.
1986: J F Clayton; Alan F Wright; MR Jay; C M McKeown; M Dempster; B S Jay; A C Bird; S S Bhattacharya
Genetic linkage between X-linked retinitis pigmentosa and DNA probe DXS7 (L1.28): further linkage data, heterogeneity testing, and risk estimation.
Human genetics 1986;74(2):168-71.
1984: S S Bhattacharya; Alan F Wright; J F Clayton; W H Price; C I Phillips; C M McKeown; MR Jay; A C Bird; P L Pearson; E M Southern
Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28.
Nature 1984;309(5965):253-5.
1983: Alan F Wright; S Bhattacharya; W H Price; C I Phillips; C McKeown; S J Crews; MR Jay; A C Bird
DNA probes in X-linked retinitis pigmentosa.
Transactions of the ophthalmological societies of the United Kingdom 1983;103 ( Pt 4)():467-74.