Genomes and Genes
Dawn L Thiselton
Affiliation: National Institute for Medical Research
- A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effectD L Thiselton
Department of Molecular Genetics, Institute of Ophthalmology, University College London, EC1 V 9EL, UK
Hum Genet 109:498-502. 2001....
- An integrated, functionally annotated gene map of the DXS8026-ELK1 interval on human Xp11.3-Xp11.23: potential hotspot for neurogenetic disordersDawn L Thiselton
Department of Molecular Genetics, Institute of Ophthalmology, University College, London, EC1V 9EL, UK
Genomics 79:560-72. 2002..3-Xp11.23 interval and provides a powerful integrated resource for functional characterization of this clonally unstable, yet gene-rich and clinically significant region of proximal Xp...
- A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophyDawn L Thiselton
Department of Molecular Genetics, Institute of Ophthalmology, London, United Kingdom
Invest Ophthalmol Vis Sci 43:1715-24. 2002....
- A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 geneTin Aung
Singapore National Eye Centre, Singapore
Hum Genet 110:52-6. 2002..04, P=0.00001 after correcting for testing four genotypes). These results indicate that polymorphisms in the OPA1 gene are associated with NTG and may be a marker for the disease...
- AKT1 is associated with schizophrenia across multiple symptom dimensions in the Irish study of high density schizophrenia familiesDawn L Thiselton
Department of Psychiatry, Virginia Commonwealth University, Richmond, Virginia 23298 0424, USA
Biol Psychiatry 63:449-57. 2008..The AKT1 gene has also been implicated in schizophrenia by association studies and decreased protein expression in the brains of schizophrenic patients...