Browsing by Author Charlton, Amanda

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Issue DateTitleAuthor(s)Citation
2016Aganglionosis with the absence of hypertrophied nerve fibres predicts disease proximal to rectosigmoid colonSannappa Venkatraman, Soundappan; Cass, Daniel T.; Charlton, Amanda; Cohen, Ralph; Kwan, Edwin; Narayanan, Sarath; Childrens Hospital Westmead: Paediatrics & Child HealthAganglionosis with the absence of hypertrophied nerve fibres predicts disease proximal to rectosigmoid colon, Pediatric Surgery International, vol.32, 3, 2016,pp 221-226
2006Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: Clinical and pathological variability within a kindred.Ilkovski, B; North, Kathryn; Charlton, Amanda; Hutchinson, David O.; Laing, Nigel G.; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child HealthAutosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: Clinical and pathological variability within a kindred., Neuromuscular Disorders, vol.16,(2),2006,pp 113-121
2018Congenital titinopathy: Comprehensive characterisation and pathogenic insightsBournazos, Adam; Charlton, Amanda; Clarke, Nigel; Cooper, Sandra; Fitzsimons, Robin; Ghaoui, Roula; Jones, Kristi; Oates, Emily; O'Grady, Gina Louise; Peduto, Anthony; Sandaradura, Sarah; Waddell, Leigh Brook; Brammah, Susan; Donkervoort, Sandra; et al, Various; Farrar, Michelle A.; Sampaio, Hugo; Smith III, John; Swanson, Lindsay; Ware, James; Whiffin, Nicola; Yau, Kyle; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Westmead Clinical School: Imaging; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthCongenital titinopathy: Comprehensive characterisation and pathogenic insights, Annals of Neurology, vol.83, 6, 2018,pp 1106-1124
2012Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12ValCharlton, Amanda; Wilson, Meredith; Bradley, Lisa; Burkitt Wright, Emma; D'Amore, Angela; Firth, Helen; Gannon, Caroline; Kerr, Bronwyn; McConnell, Vivienne; Munyard, Paul; Park, Soo-Mi; Shorto, Jennifer; Turnpenny, P. D.; Plant Breeding Institute; Children's Hospital Westmead: Paediatrics & Child HealthNeonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val, American Journal of Medical Genetics. Part A, vol.158A, 5, 2012,pp 1102-1110
2015Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spineBest, Heather; Clarke, Nigel; Ilkovski, B; North, Kathryn; Oates, Emily; O'Grady, Gina Louise; Brammah, Susan; Charlton, Amanda; Hoffman, Eric P; Kaur, Simranpreet; Kesari, Akanchha; Punetha, Jaya; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research Ins; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthRecessive ACTA1 variant causes congenital muscular dystrophy with rigid spine, European Journal of Human Genetics, vol.23, 6, 2015,pp 883-886
2015Risk of malignancy for each Bethesda class in pediatric thyroid nodulesDelbridge, Leigh; Gill, Anthony; Norlen, O; Sarkis, Leba; Charlton, Amanda; Henwood, Tony; Shun, Albert; Northern Clinical School: Surgery; Northern Clinical School: Pathology; Central Clinical School: Department of Endocrinology at RPAH; MedicineRisk of malignancy for each Bethesda class in pediatric thyroid nodules, Journal of Pediatric Surgery, vol.50, 7, 2015,pp 1147-1149
2014Standardised reporting protocol for endoscopic resection for Barrett oesophagus associated neoplasia: expert consensus recommendationsBourke, Michael; Gill, Anthony; Brown, I; Charlton, Amanda; de Boer, W. B.; Eckstein, R; Epari, K; Kumarasinghe, M P; Lam, A K; Lauwers, G Y; Price, T.J.; Raftopoulos, S; Streutker, C; Western Clinical School: Medicine (Westmead); Northern Clinical School: PathologyStandardised reporting protocol for endoscopic resection for Barrett oesophagus associated neoplasia: expert consensus recommendations, Pathology, vol.N/A, N/A, 2014,pp N/A-N/A
2014Testicular microlithiasis: The importance of self-examinationSmith, Grahame; Charlton, Amanda; Price, Neil R; Simango, Itayi; Childrens Hospital Westmead: Paediatrics & Child HealthTesticular microlithiasis: The importance of self-examination, Journal of Paediatrics and Child Health, vol.50, 10, 2014,pp e102-e105