Research Topics
Species | John R W YatesSummaryAffiliation: University of Cambridge Country: UK Publications
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Publications
Tuberous sclerosisJohn R W Yates
Department of Medical Genetics, University of Cambridge, Cambridge, UK
Eur J Hum Genet 14:1065-73. 2006..There is now the exciting possibility of drug therapy for some of the manifestations of the disease...
Complement factor H variant Y402H is a major risk determinant for geographic atrophy and choroidal neovascularization in smokers and nonsmokersTiina Sepp
Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom
Invest Ophthalmol Vis Sci 47:536-40. 2006..K. population, to determine whether the association holds for both geographic atrophy (GA) and choroidal neovascularization (CNV), and to investigate interactions with smoking...
Complement C3 variant and the risk of age-related macular degenerationJohn R W Yates
Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Addenbrooke s Hospital, Cambridge, United Kingdom
N Engl J Med 357:553-61. 2007..Age-related macular degeneration is the most common cause of blindness in Western populations. Susceptibility is influenced by age and by genetic and environmental factors. Complement activation is implicated in the pathogenesis...
The Tuberous Sclerosis 2000 Study: presentation, initial assessments and implications for diagnosis and managementJohn R W Yates
Department of Medical Genetics, University of Cambridge, Cambridge, UK
Arch Dis Child 96:1020-5. 2011..The Tuberous Sclerosis 2000 Study is the first comprehensive longitudinal study of tuberous sclerosis (TS) and aims to identify factors that determine prognosis. Mode of presentation and findings at initial assessments are reported here...
Age-related macular degeneration: the importance of family history as a risk factorHumma Shahid
Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK
Br J Ophthalmol 96:427-31. 2012..This study quantifies the risk associated with family history, first, by a case-control study of reported family history and, second, by examining the siblings of AMD cases...
Charles Bonnet syndrome in age-related macular degeneration: the nature and frequency of images in subjects with end-stage diseaseJane C Khan
Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom
Ophthalmic Epidemiol 15:202-8. 2008..As part of a larger case-control study we assessed factors which may predispose to this phenomenon in Age-related macular degeneration (AMD)...
The Early Childhood Epilepsy Severity Scale (E-Chess)Ayla Humphrey
Department of Psychiatry, Developmental Psychiatry Section, University of Cambridge, Douglas House, Cambridge, UK
Epilepsy Res 79:139-45. 2008....
Monozygotic twins with tuberous sclerosis discordant for the severity of developmental deficitsAyla Humphrey
Developmental Psychiatry Section, University of Cambridge, Addenbrooke s Hospital, Cambridge, Institute of Psychiatry, London, UK
Neurology 62:795-8. 2004..The findings also raise questions about the mechanisms giving rise to autism in TS...
Biological markers of intellectual disability in tuberous sclerosisArmin Raznahan
Department of Child and Adolescent Psychiatry, Institute of Psychiatry, King s College London, UK
Psychol Med 37:1293-304. 2007..We have used univariate and multivariate analyses, including both CT and epilepsy measures as predictors, in an attempt to clarify the pattern of cross-sectional associations between these variables and ID in TS...
Nonsense-mediated RNA decay in the TSC1 gene suggests a useful tool pre- and post-positional cloningDharini Jeganathan
MRC Human Biochemical Genetics Unit, University College London, UK
Hum Genet 111:555-65. 2002..The advent of a dense SNP map of transcribed regions of the genome may allow a similar transcript imbalance assay in the assessment of candidate genes for diseases whose causes are still unknown...
