Browsing by Author Christodoulou, John

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Issue DateTitleAuthor(s)Citation
201314q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotypeChristodoulou, John; Collins, Felicity; Ellaway, Carolyn; Ho, Gladys; Peters, Gregory; Bettella, Elise; Darmanian, Artur; Fagan, Kerry; Hackett, A; Knapman, Alisa; McKenzie, Fiona; 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 Health; Children's Hospital Westmead: Paediatrics & Child Health14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype, European Journal of Human Genetics, vol.21, 5, 2013,pp 522-527
2002Acylcarnitine profiles in fibroblasts from patients with respiratory chain defects can resemble those from patients with mitochondrial fatty acid Oxidation disordersCarpenter, Kevin; Christodoulou, John; Sim, Keow; Wilcken, Bridget; Hammond, Judith; 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 HealthAcylcarnitine profiles in fibroblasts from patients with respiratory chain defects can resemble those from patients with mitochondrial fatty acid Oxidation disorders, Metabolism-Clinical And Experimental, vol.51,(3),2002,pp 366-371
2003Adaptation of a mitochndrial complex III assay for automation: examination of reproducibility and precisionChristodoulou, John; Minchenko, D; Williams, Andrew; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Central Clinical School: MedicineAdaptation of a mitochndrial complex III assay for automation: examination of reproducibility and precision, Clinical Chemistry (Washington, DC): international journal of molecular diagnostics and laboratory medicine, vol.11,(N/A),2003,pp 330-332
2016Affective dysfunction in a mouse model of Rett syndrome: Therapeutic effects of environmental stimulation and physical activityChristodoulou, John; Tam, Patrick; Gray, Laura; Hannan, Anthony; Kondo, Mari; Leang, Sook-Kwan; Pelka, Gregory J; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Medical Research Institute (CMRI)Affective dysfunction in a mouse model of Rett syndrome: Therapeutic effects of environmental stimulation and physical activity, Developmental Neurobiology, vol.76, 2, 2016,pp 209-224
2010Alleviating Transcriptional Inhibition of the Norepinephrine Slc6a2 Transporter Gene in Depolarized NeuronsChristodoulou, John; Pelka, Gregory; Tam, Patrick; Bayles, Richard; Cappai, Roberto; Ciccotosto, Giuseppe D.; El-Osta, Assam; Harikrishnan, K. N.; Maxwell, Scott; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research Ins; Childrens Medical Research Institute (CMRI)Alleviating Transcriptional Inhibition of the Norepinephrine Slc6a2 Transporter Gene in Depolarized Neurons, The Journal of Neuroscience, vol.30, 4, 2010,pp 1494-1501
2002Allogeneic bone marrow transplantation: cure for familial Mediterranean feverBennetts, Bruce; Christodoulou, John; Curtin, Julie; Shaw, Peter; Mansour, Albert; Milledge, John; Roscioli, Tony; Williamson, Sarah; 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 HealthAllogeneic bone marrow transplantation: cure for familial Mediterranean fever, Blood, vol.100,(3),2002,pp 774-777
2007Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1Christodoulou, John; Ouvrier, Robert; Banning, Martijn J G; de Brouwer, Arjan P. M.; Donald, Jennifer A; Duley, John; Egmont-Peterson, Michael; Hamel, Ben C J; Lugtenberg, Dorien; Nabuurs, Sander B; Roeffen, Melissa; van Bokhoven, Hans; van Kuilenburg, Andre B P; Weaving, Linda; Wevers, Ron A.; Williams, Kelly; Zoetekouw, Lida; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthArts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1, American Journal of Human Genetics, vol.81,(3),2007,pp 507-518
2017Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delaysChristodoulou, John; Deverell, Marie; Elliott, Elizabeth; Johnson, Sandra Lucille; Zurynski, Yvonne; Dalkeith, T; Leonard, Helen; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthAustralian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays, Orphanet Journal of Rare Diseases, vol.12, 1, 2017,pp 1-9
2001A case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screeningBadawi, Nadia; Christodoulou, John; Ellaway, Carolyn; Raffaele, L; Leonard, Helen; 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 HealthA case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screening, Clinical Dysmorphology, vol.10, 3,pp 185-188
2013The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathyChristodoulou, John; Ho, Gladys; Wilson, Meredith; Bao, Xinhua; de Klerk, Nicholas H.; Downs, Jenny; Fehr, Stephanie; Leonard, Helen; Murgia, Alessandra; Polli, Roberta; Psoni, Stavroula; Sartori, Stefano; Vecchi, Marilena; Williams, Simon; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthThe CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy, European Journal of Human Genetics, vol.21, 3, 2013,pp 266-273
2007Coexistent MEFV and CIAS1 mutations manifesting as familial Mediterranean fever plus deafnessChaitow, Jeffrey; Christodoulou, John; Singh-Grewal, Davinder; Aksentijevich, Ivona; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthCoexistent MEFV and CIAS1 mutations manifesting as familial Mediterranean fever plus deafness, Annals of the Rheumatic Diseases (Print), vol.66, 11,pp 1541-1541
2009The common BDNF polymorphism may be a modifier of disease severity in Rett syndromeChristodoulou, John; Ho, Gladys; Bebbington, Ami; Ben Zeev, B; De Klerk, Nicholas H.; Gak, E; Leonard, Helen; Vecksler, M; Children's Hospital Westmead: Paediatrics & Child Health; Biological SciencesThe common BDNF polymorphism may be a modifier of disease severity in Rett syndrome, Neurology, vol.72, N/A,pp 1242-1247
2017Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunctionBhattacharya, Kaustuv; Christodoulou, John; Gold, Wendy; Nafisinia, Michael; Riley, Lisa; Broderick, Carolyn; Simons, Cas; Thorburn, David; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthCompound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction, PloS One, vol.12, 6, 2017,pp 1-12
2006Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.Christodoulou, John; Bzduch, Vladimir; deGrauw, Ton J.; Dinopoulos, Agirios; et, al; Fekete, Gyorgy; Gail, Chuck; Kalmanchey, Rozalia; Kato, Kumi; Kure, Shigeo; Trojovsky, Alex; Children's Hospital Westmead: Paediatrics & Child HealthComprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia., Human Mutation, vol.27,(4),2006,pp 343-352
2009Congenital disorder of glycosylation type Ia: Heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiencyBhattacharya, Kaustuv; Carpenter, Kevin; Christodoulou, John; Silink, Martin; Clayton, P.; Fietz, M.; Howard, Neville J.; Shanti, B.; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthCongenital disorder of glycosylation type Ia: Heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency, Journal of Inherited Metabolic Disease (JIMD), vol.Short Report #166 - online,(N/A),2009,pp 1-11
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
2008Costeff optic atrophy syndrome: New clinical case and novel molecular findingsChristodoulou, John; Ho, G; Walter, John; Children's Hospital Westmead: Paediatrics & Child HealthCosteff optic atrophy syndrome: New clinical case and novel molecular findings, Journal of Inherited Metabolic Disease (JIMD), vol.134,(N/A),2008,pp Online-N/A
2010Cyclin-Dependent Kinase-Like 5 (CDKL5) Mutation Screening in Rett Syndrome and Related DisordersBennetts, Bruce; Christodoulou, John; Cloosterman, Desiree; Ellaway, Carolyn; Ho, Gladys; White, Rose; Bienvenu, Thierry; Cox, Timothy; Darmanian, Artur; Fischer, Alexandra; Fullston, Tod; Gecz, Jozef; Kalra, Veena; Nectoux, Juliette; Scheffer, Ingrid; Schmidt, Swetlana; Tong, Xing Zhang; Yendle, Simone; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Western Clinical School: Medicine (Westmead); Children's Hospital Westmead: Paediatrics & Child Health; Biological Sciences; Central Clinical School: OfficeCyclin-Dependent Kinase-Like 5 (CDKL5) Mutation Screening in Rett Syndrome and Related Disorders, Twin Research and Human Genetics, vol.13, 2,pp 168-178
2015Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defectChristodoulou, John; Clarke, Nigel; Guo, Yiran; Liang, Jinlong; Menezes, Manoj; Menezes, Minal; Andrews, P Ian; et al, Various; Keating, Brendan; Li, Dong; Liu, Xuanzhu; Riley, Lisa G.; Shen, Yulan; Thorburn, David R.; Tian, Lifeng; Wang, Fengxiang; Webster, Richard; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Genetic Medicine; Children's Hospital Westmead: Genetic Medicine; Clinical and Rehabilitation Sciences; Childrens Hospital Westmead: Paediatrics & Child HealthDelayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect, Neuromuscular Disorders, vol.25, N/A, 2015,pp 257-261
2015Deletion of protein tyrosine phosphatase, non-receptor type 4 (PTPN4) in twins with a Rett syndrome-like phenotypeChristodoulou, John; Ellaway, Carolyn; Peters, Gregory; Tam, Patrick; Pelka, Gregory J; Williamson, Sarah L; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research InsDeletion of protein tyrosine phosphatase, non-receptor type 4 (PTPN4) in twins with a Rett syndrome-like phenotype, European Journal of Human Genetics, vol.23, 9, 2015,pp 1171-1175