Browsing by Author Clarke, Angus

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Showing results 1 to 7 of 7
Issue DateTitleAuthor(s)Citation
2007Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation.Christodoulou, John; Williamson, Sarah; Archer, Hayley; Bailey, Mark E; Charman, Tony; Clarke, Angus; Colvin, Lyn; de Klerk, Nicholas H.; Evans, Julie; Leonard, Helen; Ravine, David; Sampson, Julian; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthCorrelation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation., Journal of Medical Genetics 2005, vol.44,(2),2007,pp 148-152
2015For your interest? The ethical acceptability of using non-invasive prenatal testing to test 'purely for information'Newson, Ainsley; Clarke, Angus; Deans, Zuzana; School of Public Health: Public HealthFor your interest? The ethical acceptability of using non-invasive prenatal testing to test 'purely for information', Bioethics, vol.29, 1, 2015,pp 19-25
2004Mutations Of Cdkl5 Cause A Severe Neurodevelopmental Disorder With Infantile Spasms And Mental Retardation.Bennetts, Bruce; Christodoulou, John; Ellaway, Carolyn; Lahooti, Hooshang; Pelka, G; Tam, Patrick; Watson, Catherine; Weaving, Linda; Williamson, Susan; Archer, Hayley; Clarke, Angus; Evans, Julie; Friend, Kathie L; Gecz, Jozef; Leonard, Helen; McKenzie, Olivia L D; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Nepean Clinical School: Medicine; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child Health; Medicine Faculty OfficeMutations Of Cdkl5 Cause A Severe Neurodevelopmental Disorder With Infantile Spasms And Mental Retardation., American Journal of Human Genetics, vol.75,(N/A),2004,pp 1079-1093
2006NTNG1 mutations are a rare cause of Rett syndrome.Christodoulou, John; Ravine, David; Archer, Hayley L.; Clarke, Angus; Evans, Julie C; Grove, Lucy; Kerr, Alison; Lazarou, Lazarus; Leonard, Helen; Millar, David S.; Pilz, Daniela T; Sampson, Julien; Thompson, Peter W.; Verity, Christopher; Whatley, Sharon; Children's Hospital Westmead: Paediatrics & Child Health; Medicine Faculty OfficeNTNG1 mutations are a rare cause of Rett syndrome., American journal of medical genetics Part A, vol.140A,(7),2006,pp 691-694
2010Rett syndrome: revised diagnostic criteria and nomenclatureChristodoulou, John; Bahi-Buisson, Nadia; Bailey, Mark E.S.; Clarke, Angus; Glaze, Daniel G.; Huppke, Peter; Kaufmann, Walter E; Leonard, Helen; Neul, Jeffrey L.; Percy, Alan K.; Renieri, Alessandra; Schanen, N. Carolyn; Zappella, Michele; Children's Hospital Westmead: Paediatrics & Child HealthRett syndrome: revised diagnostic criteria and nomenclature, Annals of Neurology, vol.68, 6,pp 944-950
2017Somatic mutations in salivary duct carcinoma and potential therapeutic targetsBoyer, Michael; Clark, Jonathan; Clarke, Angus; Gupta, Ruta; Khoo, Timothy; Mahon, Kate; O'Toole, Sandra; Palme, Carsten Erich; Yu, Bing; Cowley, Mark J.; Dinger, Marcel; Kraitsek, Spiridoula; Luk, Peter P.; Selinger, Christina; Smith, Joel A.; Central Clinical School: Medicine; Central Clinical School: Surgery; Central Clinical School: Medicine; Central Clinical School: Pathology; Central Clinical School: Medicine; School of Public Health: Public Health; Central Clinical School: Pathology; Western Clinical School: Surgery; Central Clinical School: MedicineSomatic mutations in salivary duct carcinoma and potential therapeutic targets, Oncotarget, vol.8, 44, 2017,pp 75893-75903
2012Transcription factor 4 and myocyte enhancer factor 2C mutations are not common causes of Rett syndromeArmani, Roksana; Christodoulou, John; Ho, Gladys; Archer, Hayley L.; Clarke, Angus; Cloosterman, Desiree; Vasudevan, Pradeep; Williamson, Sarah L; Yang, Nan; Zweier, Christiane; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthTranscription factor 4 and myocyte enhancer factor 2C mutations are not common causes of Rett syndrome, American Journal of Medical Genetics. Part A, vol.158A, 4, 2012,pp 713-719