Browsing by Author Ho, Gladys

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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
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
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
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
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
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
2016Functional abilities in children and adults with the CDKL5 disorderChristodoulou, John; Ho, Gladys; de Klerk, Nicholas; Downs, Jenny; Fehr, Stephanie; Forbes, David A; Leonard, Helen; Williams, Simon; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthFunctional abilities in children and adults with the CDKL5 disorder, American Journal of Medical Genetics, Part A, vol.170, 11, 2016,pp 2860-2869
2016Functional abilities in children and adults with the CDKL5 disorderChristodoulou, John; Ho, Gladys; de Klerk, Nicholas; Downs, Jenny; Fehr, Stephanie; Forbes, David A; Leonard, Helen; Williams, Simon; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthFunctional abilities in children and adults with the CDKL5 disorder, American Journal of Medical Genetics, Part A, vol.170, 11, 2016,pp 2860-2869
2013In vitro read-through of phenylalanine hydroxylase (PAH) nonsense mutations using aminoglycosides: A potential therapy for phenylketonuriaChristodoulou, John; Ho, Gladys; Reichardt, Juergen; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthIn vitro read-through of phenylalanine hydroxylase (PAH) nonsense mutations using aminoglycosides: A potential therapy for phenylketonuria, Journal of Inherited Metabolic Disease (JIMD), vol.36, 6, 2013,pp 955-959
2006Inefficient task partitioning among nonhygienic honeybees, Apis mellifera L., and implications for disease transmissionHo, Gladys; Arathi, H S; Spivak, Marla; Biological SciencesInefficient task partitioning among nonhygienic honeybees, Apis mellifera L., and implications for disease transmission, Animal Behaviour, vol.72,(2),2006,pp 431-438
2017Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disordersAlexander, Stephen; Bennetts, Bruce; Mallawaarachchi, Amali; McCarthy, Hugh; Farnsworth, Elizabeth; Fletcher, Jeffery T.; Ho, Gladys; Holman, katherine; Mallett, Andrew; Patel, Chirag; Quinlan, Catherine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Medicine; Childrens Hospital Westmead: Paediatrics & Child HealthMassively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders, Kidney International, vol.92, 6, 2017,pp 1493-1506
2011Maternal Riboflavin Deficiency, Resulting in Transient Neonatal-Onset Glutaric Aciduria Type 2, Is Caused by a Microdeletion in the Riboflavin Transporter Gene GPR172BCarpenter, Kevin; Christodoulou, John; Ho, Gladys; Peters, Gregory; Inui, Ken-Ichi; Masuda, Satohiro; Mitchell, John J.; Olsen, R. K. J.; Rhead, William; Sim, K. G.; Yonezawa, Atsushi; 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 HealthMaternal Riboflavin Deficiency, Resulting in Transient Neonatal-Onset Glutaric Aciduria Type 2, Is Caused by a Microdeletion in the Riboflavin Transporter Gene GPR172B, Human Mutation, vol.32, 1, 2011,pp E1976-E1984
2014The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) ResponsivenessAlexander, Ian; Bhattacharya, Kaustuv; Christodoulou, John; Ellaway, Carolyn; Ho, Gladys; Wilcken, Bridget; Dennison, Barbara; Thompson, Sue; 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 Health; Childrens Hospital Westmead: Paediatrics & Child HealthThe Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness, JIMD Reports, vol.14, N/A, 2014,pp 55-65
2017RettBASE: Rett syndrome database updateChristodoulou, John; Ho, Gladys; Krishnaraj, Rahul; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthRettBASE: Rett syndrome database update, Human Mutation, vol.38, 8, 2017,pp 922-931
2012The spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screeningChristodoulou, John; Ho, Gladys; Chappa, Georgia; Dionysiou, Maria; Drousiotou, Anthi; Georgiou, Theodoros; Nicolaides, Paola; Nicolaou, Alexia; Stylianidou, Goula; Vogazianos, Marios; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthThe spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screening, Clinical Biochemistry, vol.45, 78, 2012,pp 588-592
2016Sporadic and Familial Congenital Cataracts: Mutational Spectrum and new Diagnoses using Next-Generation SequencingBennetts, Bruce; Billson, Frank; Cheng, Anson; Christodoulou, John; Flaherty, Maree; Fraser, Clare; Grigg, John; Jamieson, Robyn; Ma, Alan; Martin, Frank; Prokudin, Ivan; Farnsworth, Elizabeth; Ho, Gladys; Holman, katherine; Mowat, David; Smith, James; Childrens Hospital Westmead: Paediatrics & Child Health; Central Clinical School: Clinical Ophthal & Eye Health; Central Clinical School: Save Sight & Eye Health Inst.; Childrens Hospital Westmead: Paediatrics & Child Health; Central Clinical School: Clinical Ophthal & Eye Health; Central Clinical School: Save Sight & Eye Health Inst.; Central Clinical School: Clinical Ophthal & Eye Health; Childrens Medical Research Institute (CMRI); Children's Hospital Westmead: Genetic Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Medical Research Institute (CMRI)Sporadic and Familial Congenital Cataracts: Mutational Spectrum and new Diagnoses using Next-Generation Sequencing, Human Mutation, vol.37, 4, 2016,pp 371-384
2015There is variability in the attainment of developmental milestones in the CDKL5 disorderChristodoulou, John; de Klerk, Nicholas; Downs, Jenny; Fehr, Stephanie; Forbes, David A; Ho, Gladys; Leonard, Helen; Williams, Simon; Childrens Hospital Westmead: Paediatrics & Child HealthThere is variability in the attainment of developmental milestones in the CDKL5 disorder, Journal of Neurodevelopmental Disorders, vol.7, 1, 2015,pp 2-N/A
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