Browsing by Author Ellaway, Carolyn

Jump to: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
or enter first few letters:  
Showing results 1 to 20 of 38  next >
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
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
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
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
2012Combined Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation in Mucopolysacharidosis Type VISillence, David; Waters, Karen; Donaldson, S.; Ellaway, Carolyn; Shaw, Peter J.; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthCombined Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation in Mucopolysacharidosis Type VI in JIMD Reports - Case and Research Reports, 2011/2, Springer, 2012, pp. 103-106
2010Contiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiencyBennetts, Bruce; Ellaway, Carolyn; Peters, Gregory; Wilcken, Bridget; Balasubramaniam, S; Rudduck, Christina; 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 HealthContiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiency, Molecular Genetics and Metabolism, vol.99, 1,pp 34-41
2015CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapyBhattacharya, Kaustuv; Ellaway, Carolyn; Bali, Deeksha S; Berrier, Kathryn L; Botha, Eleanor G; et al, Various; Goldstein, Jennifer; Kazi, Zoheb B; Prater, Sean N; Rehder, Catherine W; Stefanescu, Mihaela C; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthCRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy, Genetics in Medicine, vol.17, 11, 2015,pp 912-918
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
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
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
2008Dietary L-Tyrosine Supplementation in Nemaline MyopathyNorth, Kathryn; Ellaway, Carolyn; Iannaccone, Susan; Ketteridge, David; Kornberg, Andrew; Roddick, Laurence; Rudge, Sian; Ryan, M; Sy, Catherine; Children's Hospital Westmead: Paediatrics & Child HealthDietary L-Tyrosine Supplementation in Nemaline Myopathy, Journal of Child Neurology, vol.23,(6),2008,pp 609-613
2006Dietary L-tyrosine supplementation in nemaline myopathyEllaway, Carolyn; Kornberg, Andrew; North, Kathryn; Ryan, Monique; Iannaccone, Susan; Ketteridge, David; Roddick, Laurence; Rudge, Sian; Silberstein, Jon; Sy, Catherine; Children's Hospital Westmead: Paediatrics & Child Health; Medicine Faculty Office; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthDietary L-tyrosine supplementation in nemaline myopathy, Neuromuscular Disorders, vol.16,(S1),2006,pp S88-S88
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
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
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