Browsing by Author Ravine, David

Jump to: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
or enter first few letters:  
Showing results 1 to 10 of 10
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
2017Cytokine levels and associations with symptom severity in male and female children with autism spectrum disorderGlozier, Nicholas; Guastella, Adam; Hickie, Ian; Masi, Anne; Alvares, Gail; Beilby, John P; Breen, Edmond; Hui, Jennie; Hunt, Anna; Ravine, David; Whitehouse, Andrew; Wray, John; Central Clinical School: Psychological Medicine; School of Medical Sciences: Brain and Mind Centre; Central Clinical School: Psychiatry; School of Medical Sciences: Brain and Mind CentreCytokine levels and associations with symptom severity in male and female children with autism spectrum disorder, Molecular Autism, vol.8, 1, 2017,pp 1-11
2008The diagnosis of autism in a female: could it be Rett syndrome?Ellaway, Carolyn; Anderson, Alison; Bebbington, Ami; de Klerk, Nick; Kaufmann, Walter E; Kulkarni, Alpana; Leonard, Helen; Ravine, David; Young, Deidra; Children's Hospital Westmead: Paediatrics & Child HealthThe diagnosis of autism in a female: could it be Rett syndrome?, European Journal of Pediatrics, vol.167,(6),2008,pp 661-669
2006Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2.Christodoulou, John; Vasudevan, V; Williamson, Sarah; de Lagarde, D.; Leonard, Helen; Macleod, P.; Ravine, David; Saxena, Alka; Thompson, Elizabeth M.; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child HealthLost in translation: translational interference from a recurrent mutation in exon 1 of MECP2., Journal of Medical Genetics 2005, vol.43,(6),2006,pp 470-477
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
2005p.R270X MECP2 mutation and mortality in Rett syndromeChristodoulou, John; Archer, Hayley L.; Bailey, Mark E.S.; de Klerk, Nick; Jian, Le; Kerr, Alison; Laurvick, Crystal; Leonard, Helen; Ravine, David; Children's Hospital Westmead: Paediatrics & Child Healthp.R270X MECP2 mutation and mortality in Rett syndrome, European Journal of Human Genetics (2005), vol.13,(11),2005,pp 1235-1238
2006Predictors of seizure onset in Rett syndrome.Christodoulou, John; Williamson, Sarah; Anderson, Alison; Bower, Carolyn; de Klerk, Nicholas H.; Jian, Le; Leonard, Helen; Nagarajan, Lakshmi; Ravine, David; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthPredictors of seizure onset in Rett syndrome., The Journal of Pediatrics, vol.149,(4),2006,pp 542-547
2006Rett syndrome in Australia: A review of the epidemiology.Christodoulou, John; Ellaway, Carolyn; Williamson, Sarah; Bower, Carolyn; de Klerk, Nick; Laurvick, Crystal; Leonard, Helen; Ravine, David; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthRett syndrome in Australia: A review of the epidemiology., The Journal of Pediatrics, vol.148,(3),2006,pp 347-352
2007Seizures in Rett syndrome: An overview from a one-year calendar studyChristodoulou, John; de Klerk, Nicholas H.; Jian, Le; Leonard, H; Leonard, Helen; Nagarajan, Lakshmi; Ravine, David; Children's Hospital Westmead: Paediatrics & Child HealthSeizures in Rett syndrome: An overview from a one-year calendar study, European Journal of Paediatric Neurology, vol.11,(5),2007,pp 310-317
2010Updating the profile of C-terminal MECP2 deletions in Rett syndromeChristodoulou, John; Anderson, Alison; Bahi-Buisson, Nadia; Bebbington, Ami; Ben Zeev, B; Ho, G; Jacoby, Peter; Leonard, Helen; Percy, Alan K.; Pineda, M; Ravine, David; Smeets, E; Children's Hospital Westmead: Paediatrics & Child HealthUpdating the profile of C-terminal MECP2 deletions in Rett syndrome, Journal of Medical Genetics, vol.47, N/A,pp 242-248