Browsing by Author Leonard, Helen

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Issue DateTitleAuthor(s)Citation
2011Altered attainment of developmental milestones influences the age of diagnosis of rett syndromeEllaway, Carolyn; Bebbington, Ami; Downs, Jenny A.; Fehr, Stephanie; Leonard, Helen; Rowe, Peter; Children's Hospital Westmead: Paediatrics & Child HealthAltered attainment of developmental milestones influences the age of diagnosis of rett syndrome, Journal of Child Neurology, vol.26, 8, 2011,pp 980-987
2013Assessment and Management of Nutrition and Growth in Rett SyndromeEllaway, Carolyn; Abraham, Suzanne; Baikie, Gordon; Bathgate, Katherine; Downs, Jenny; Gerts, Suzanne; Jones, Mary; Lane, Jane; Leonard, Helen; Naseem, Nusrat; Percy, Alan K.; Ravikumara, Madhur; Children's Hospital Westmead: Paediatrics & Child HealthAssessment and Management of Nutrition and Growth in Rett Syndrome, Journal of Pediatric Gastroenterology and Nutrition, vol.57, 4, 2013,pp 451-460
2006The association between behavior and genotype in Rett syndrome using the Australian Rett syndrome database.Ellaway, Carolyn; de Klerk, Nicholas H.; Hall, Sonja E.; Jacoby, Peter; Leonard, Helen; Robertson, Laila; Children's Hospital Westmead: Paediatrics & Child HealthThe association between behavior and genotype in Rett syndrome using the Australian Rett syndrome database., American Journal of Medical Genetics Part B-Neuropsychiatric Genetics, vol.141B,(2),2006,pp 177-183
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
2011Autism and intellectual disability are differentially related to sociodemographic background at birthNassar, Natasha; Bebbington, Ami; Bourke, Jenny; Bower, Carol; Dixon, Glenys; Glasson, Emma J.; Jacoby, Peter; Leonard, Helen; Malacova, Eva; Stanley, Fiona J.; Whitehouse, Andrew; Northern Clinical School: Kolling InstituteAutism and intellectual disability are differentially related to sociodemographic background at birth, PLoS One, vol.6, 3, 2011,pp e17875 - 1-e17875 - 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
2010Characteristics of non-Aboriginal and Aboriginal children and families with substantiated child maltreatment: a population-based studyNassar, Natasha; Jacoby, Peter; Leonard, Helen; Mathews, Richard P.; O'Donnell, Melissa; Patterson, Yvonne G; Stanley, Fiona J.; Northern Clinical School: Kolling InstituteCharacteristics of non-Aboriginal and Aboriginal children and families with substantiated child maltreatment: a population-based study, International Journal of Epidemiology, vol.39, 3,pp 921-928
2016Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available EvidenceEllaway, Carolyn; Munns, Craig; et al, Various; Fyfe, Sue; Jefferson, Amanda; Leonard, Helen; Motil, Kathleen; Shapiro, Jay R; Siafarikas, Aris; Tarquinio, Daniel; Ward, Leanne; Woodhead, H. J.; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthClinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence, PloS One, vol.11, 2, 2016,pp 1-18
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
2011A comparison of autism prevalence trends in Denmark and Western AustraliaNassar, Natasha; Bourke, Jenny; Bower, Carolyn; de Klerk, Nicholas H.; Dixon, Glenys; Glasson, Emma J.; Leonard, Helen; Parner, Erik T.; Thorsen, Poul; Northern Clinical School: Kolling InstituteA comparison of autism prevalence trends in Denmark and Western Australia, Journal of Autism and Developmental Disorders, vol.41, 12, 2011,pp 1601-1608
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
2014Day occupation is associated with psychopathology for adolescents and young adults with Down syndromeEinfeld, Stewart; Riches, Vivienne; Bourke, Jenny; Foley, Kitty Rose; Girdler, S; Jacoby, Peter; Leonard, Helen; Disability and Community; Northern Clinical School: MedicineDay occupation is associated with psychopathology for adolescents and young adults with Down syndrome, BMC Psychiatry, vol.14, 1, 2014,pp 1-8
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
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
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
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
2017Expanding the clinical picture of the MECP2 Duplication syndromeEllaway, Carolyn; Downs, J; Leonard, Helen; Lim, Z; Wong, Kingsley; Childrens Hospital Westmead: Paediatrics & Child HealthExpanding the clinical picture of the MECP2 Duplication syndrome, Clinical Genetics, vol.91, 4, 2017,pp 557-563
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