Browsing by Author Christodoulou, John

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Issue DateTitleAuthor(s)Citation
2007Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male probandBennetts, Bruce; Christodoulou, John; Slater, Katrina; Vasudevan, V; Williamson, Sarah; Bebbinton, Ami; Cloosterman, Desiree; Donald, Jennifer; Hardwick, Simon A; Leonard, Helen; Reuter, Kirsten; Smith, Robert; Williams, Simon R.; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child HealthDelineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband, European Journal of Human Genetics (2005), vol.15,(12),2007,pp 1218-1229
2003Describing the phenotype in Rett syndrome using a population database.Christodoulou, John; Ellaway, Carolyn; Colvin, Lyn; de Klerk, Nicholas H.; Fyfe, Susan; Leonard, Helen; Leonard, S; Msall, M.; Schiavello, T.; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthDescribing the phenotype in Rett syndrome using a population database., Archives of Disease in Childhood, vol.88,(1),2003,pp 38-43
2018Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathyArdern-Holmes, Simone; Bennetts, Bruce; Dale, Russell; Gill, Deepak; Ho, Gladys; Kothur, Kavitha; Lorentzos, Michelle; Menezes, Manoj; Procopis, Peter; Webster, Richard; Anthony, Jayne; Christodoulou, John; Farnsworth, Elizabeth; Gupta, Sachin; Holman, katherine; Troedson, Chris; Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Westmead Clinical School: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Clinical and Rehabilitation Sciences; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthDiagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy, Seizure, vol.59, N/A, 2018,pp 132-140
2005Distinct expression profiles of Mecp2 transcripts with different lengths of 3'UTR in the brain and visceral organs during mouse development.Christodoulou, John; Pelka, G; Tam, Patrick; Watson, Catherine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Childrens Medical Research InsDistinct expression profiles of Mecp2 transcripts with different lengths of 3'UTR in the brain and visceral organs during mouse development., Genomics, vol.85,(4),2005,pp 441-452
2010Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brainChristodoulou, John; Gibson, Joanne; Slobedman, Barry; El-Osta, Assam; Harikrishnan, K. N.; Minchenko, Dimitri; Stern, J. Lewis; Williamson, Sarah L; Childrens Hospital Westmead: Paediatrics & Child Health; Biological Sciences; Infectious DiseasesDownstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain, BMC Neuroscience, vol.11, 53, 2010,pp 53-1-53-16
2005Early onset seizures and Rett-like features associated with mutations in CDKL5.Christodoulou, John; Archer, Hayley L; Colley, James P; et, al; Evans, Julie C; Gecz, Jozef; Jardine, Philip E; Kerr, Alison; Nielsen, Jytte Bieber; Ravn, Kirstine; Williams, Elizabeth; Children's Hospital Westmead: Paediatrics & Child HealthEarly onset seizures and Rett-like features associated with mutations in CDKL5., European Journal of Human Genetics (2005), vol.13,(10),2005,pp 1113-20
2006Early progressive encephalopathy in boys and MECP2 mutations.Christodoulou, John; Ellaway, Carolyn; Jackson, J; Mansour, A; Dure, L. S.; et, al; Fabian, V.; Friez, M.; Kankirawatana, P.; Kiraly-Borri, C.; Lane, J. Michael; Leonard, Helen; Makris, C. M.; Scurlock, J.; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Medicine; Children's Hospital Westmead: Paediatrics & Child HealthEarly progressive encephalopathy in boys and MECP2 mutations., Neurology, vol.67,(1),2006,pp 164-166
2007The effects of large neutral amino acid supplements in PKU: An MRS and neuropsychological studyChristodoulou, John; Wilcken, Bridget; Ghosh-Jerath, Suparna; Green, Kathryn; Joy, Pamela; Kemp, Allan; Rae, Caroline; Rocca, Antonella; Schindeler, Suzanne; Thompson, Susan; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthThe effects of large neutral amino acid supplements in PKU: An MRS and neuropsychological study, Molecular Genetics and Metabolism (2005), vol.91,(N/A),2007,pp 48-54
2003Effects of MECP2 mutation type, location and X-inactivation in modulating Rett Syndrome phenotypeBennetts, Bruce; Christodoulou, John; Ellaway, Carolyn; Weaving, Linda; Davis, Mark; Delatycki, Martin; Laing, Nigel G.; Leonard, Helen; Thompson, Elizabeth M.; Thong, Meow-Keong; Williamson, Sarah L; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthEffects of MECP2 mutation type, location and X-inactivation in modulating Rett Syndrome phenotype, American Journal of Medical Genetics Part A, vol.118A,(N/A),2003,pp 103-114
2015Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: A prospective cohort studyChristodoulou, John; Belaidi, Abdel; Bowha, Stephen; Derks, Terry; et al, Various; Font-Montgomery, Esperanza; Hennermann, Julia; Jameson, Elisabeth; K├Ânig, K; McGregor, Tracy; Schwahn, Bernd; Spronsen, Francjan; Childrens Hospital Westmead: Paediatrics & Child HealthEfficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: A prospective cohort study, The Lancet, vol.386, 10007, 2015,pp 1955-1963
2004Enlarged Temporal Lobes In Turner Syndrome: An X-Chromosome Effect?Christodoulou, John; Cowell, Christopher; Joy, Pamela; Rae, Caroline; Coltheart, Max; Harasty, Jenny A; Kemp, Allan; Kuan, Stacey; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Molecular & Microbial BioscienEnlarged Temporal Lobes In Turner Syndrome: An X-Chromosome Effect?, Cerebral Cortex, vol.14,(2),2004,pp 156-164
2008Environmental enrichment ameliorates a motor coordination deficit in a mouse model of Rett syndrome - Mecp2 gene dosage effects and BDNF expressionChristodoulou, John; Tam, Patrick; Gray, Laura; Hannan, Anthony; Kondo, Mari; Pelka, Gregory J; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research InsEnvironmental enrichment ameliorates a motor coordination deficit in a mouse model of Rett syndrome - Mecp2 gene dosage effects and BDNF expression, European Journal of Neuroscience, vol.27,(12),2008,pp 3342-3350
2010Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.Christodoulou, John; Al Raisi, Zahyia; Bayly, Marta; Berkovic, Samuel F.; Brown, Natasha; Desai, Tarishi; Dibbens, Leanne; et al, various; Haan, Eric; Hynes, Kim; Smith, Raffaella; Tarpey, Patrick; Turner, Samantha; Children's Hospital Westmead: Paediatrics & Child HealthEpilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families., Journal of Medical Genetics, vol.47, 3,pp 211-216
2009Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 YearsCarpenter, Kevin; Christodoulou, John; Ellaway, Carolyn; Wilcken, Bridget; Wiley, Veronica; Bowling, Francis; Cowley, David; Fletcher, Janice; Haas, Marion; Joy, Pamela; Kirk, E. P. E.; Lewis, Barry; McGill, Jim; Peters, Heidi; Pitt, James; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthExpanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years, Pediatrics, vol.124, 2,pp e241-e248
2014Experience of Gastrostomy Using a Quality Care Framework: The Example of Rett SyndromeChristodoulou, John; Ellaway, Carolyn; Elliott, Elizabeth; Downs, Jenny A.; Jacoby, Peter; Leonard, Helen; Ravikumara, Madhur; Wong, Kingsley; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthExperience of Gastrostomy Using a Quality Care Framework: The Example of Rett Syndrome, MD - Medicine (Baltimore), vol.93, 28, 2014,pp 1-9
2016Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian DiseaseChristodoulou, John; Dehainault, Catherine; Eyre-Walker, Adam C.; Gauthier-Villars, Marion; Ho, Gladys; Houdayer, Claude; Lohman, Dietmar; Onadim, Zerrin O.; Parfait, Beatrice; Price, Elizabeth Ann; Smith, Thomas; Van Minkelen, Rick; Childrens Hospital Westmead: Paediatrics & Child HealthExtensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian Disease, Human Mutation, vol.37, 5, 2016,pp 488-494
2016Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian DiseaseChristodoulou, John; Dehainault, Catherine; Eyre-Walker, Adam C.; Gauthier-Villars, Marion; Ho, Gladys; Houdayer, Claude; Lohman, Dietmar; Onadim, Zerrin O.; Parfait, Beatrice; Price, Elizabeth Ann; Smith, Thomas; Van Minkelen, Rick; Childrens Hospital Westmead: Paediatrics & Child HealthExtensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian Disease, Human Mutation, vol.37, 5, 2016,pp 488-494
2016Family satisfaction following spinal fusion in Rett syndromeChristodoulou, John; Ellaway, Carolyn; Bunting, Catherine; Downs, Jenny; Jacoby, Peter; Leonard, Helen; Torode, Ian; Wong, Kingsley; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthFamily satisfaction following spinal fusion in Rett syndrome, Developmental Neurorehabilitation, vol.19, 1, 2016,pp 31-37
2002Flow cytometry in the study of mitochondrial respiratory chain disordersChristodoulou, John; Williams, Andrew; Donald, Jennifer; Kirby, Denise M.; Setterfield, Karen; Thorburn, David R.; Trounce, Ian; Children's Hospital Westmead: Paediatrics & Child Health; Central Clinical School: MedicineFlow cytometry in the study of mitochondrial respiratory chain disorders, Mitochondrion, vol.1, 5,pp 437-445
2014A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh SyndromeChristodoulou, John; Procopis, Peter; Wilcken, Bridget; Compton, Alison; Dasvarma, Ayan; et al, Various; Gandolfo, Luke; Lim, Sze Chern; Marum, Justine; McKenzie, Matthew; Peters, Heidi; Smith, Katherine; Stroud, David; Tucker, Elena; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthA Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome, American Journal of Human Genetics, vol.94, 2, 2014,pp 209-222