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Akademický článek

Recapitulation of Skewed X-Inactivation in Female Ornithine Transcarbamylase-Deficient Primary Human Hepatocytes in the FRG Mouse: A Novel System for Developing Epigenetic Therapies.

Autor: Cunningham SC; Gene Therapy Research Unit, Faculty of Medicine and Health, Children's Medical Research Institute, The University of Sydney and Sydney Children's Hospitals Network, Westmead, Australia., van Dijk EB; Gene Therapy Research Unit, Faculty of Medicine and Health, Children's Medical Research Institute, The University of Sydney and Sydney Children's Hospitals Network, Westmead, Australia., Zhu E; Gene Therapy Research Unit, Faculty of Medicine and Health, Children's Medical Research Institute, The University of Sydney and Sydney Children's Hospitals Network, Westmead, Australia., Sugden M; Gene Therapy Research Unit, Faculty of Medicine and Health, Children's Medical Research Institute, The University of Sydney and Sydney Children's Hospitals Network, Westmead, Australia., Mandwie M; Gene Therapy Research Unit, Faculty of Medicine and Health, Children's Medical Research Institute, The University of Sydney and Sydney Children's Hospitals Network, Westmead, Australia., Siew S; Department of Gastroenterology, James Fairfax Institute of Paediatric Nutrition, Sydney Children's Hospitals Network, Westmead, Australia.; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, Australia., Devanapalli B; NSW Biochemical Genetics Service, The Children's Hospital at Westmead, Westmead, Australia., Tolun AA; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, Australia.; NSW Biochemical Genetics Service, The Children's Hospital at Westmead, Westmead, Australia., Klein A; Australian e-Health Research Centre, Commonwealth Scientific and Industrial Research Organisation (CSIRO), Sydney, Australia., Wilson L; Australian e-Health Research Centre, Commonwealth Scientific and Industrial Research Organisation (CSIRO), Sydney, Australia.; Department of Biomedical Sciences, Macquarie University, Macquarie Park, Australia., Aryamanesh N; Embryology Research Unit, Bioinformatics Group, Children's Medical Research Institute, University of Sydney, Westmead, Australia., Gissen P; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, University College London, London, United Kingdom., Baruteau J; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, University College London, London, United Kingdom., Bhattacharya K; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, Australia.; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney, Australia., Alexander IE; Gene Therapy Research Unit, Faculty of Medicine and Health, Children's Medical Research Institute, The University of Sydney and Sydney Children's Hospitals Network, Westmead, Australia.; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, Australia.

Publikováno v: Human gene therapy [Hum Gene Ther] 2023 Sep; Vol. 34 (17-18), pp. 917-926. Date of Electronic Publication: 2023 Sep 11.

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Akademický článek

Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders.

Autor: Evesson FJ; Kids Neuroscience Centre, Kids Research Institute, The Children's Hospital at Westmead, Westmead, NSW, Australia.; Functional Neuromics, Children's Medical Research Institute, The University of Sydney, Westmead, NSW, Australia., Dziaduch G; Kids Neuroscience Centre, Kids Research Institute, The Children's Hospital at Westmead, Westmead, NSW, Australia.; Functional Neuromics, Children's Medical Research Institute, The University of Sydney, Westmead, NSW, Australia., Bryen SJ; Kids Neuroscience Centre, Kids Research Institute, The Children's Hospital at Westmead, Westmead, NSW, Australia.; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, NSW, Australia., Moore F; NSW Biochemical Genetics Service, The Children's Hospital at Westmead, Westmead, NSW, Australia., Pittman S; Department of Neurology, Washington University School of Medicine, Saint Louis, MO, USA., Devanapalli B; NSW Biochemical Genetics Service, The Children's Hospital at Westmead, Westmead, NSW, Australia., Waddell LB; Kids Neuroscience Centre, Kids Research Institute, The Children's Hospital at Westmead, Westmead, NSW, Australia.; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, NSW, Australia., Ryan MM; Royal Children's Hospital, Murdoch Children's Research Institute and University of Melbourne, Melbourne, Australia., Menezes MP; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, NSW, Australia.; Department of Neurology, Children's Hospital at Westmead, Westmead, NSW, Australia., Weihl CC; Department of Neurology, Washington University School of Medicine, Saint Louis, MO, USA., Tolun AA; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, NSW, Australia.; NSW Biochemical Genetics Service, The Children's Hospital at Westmead, Westmead, NSW, Australia., Zaidman C; Department of Neurology, Divisions of Child Neurology and Neuromuscle, Washington University in St. Louis School of Medicine, St. Louis, MO, USA., Young H; Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, Australia., Adès LC; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, NSW, Australia.; Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, Australia., Cooper ST; Kids Neuroscience Centre, Kids Research Institute, The Children's Hospital at Westmead, Westmead, NSW, Australia.; Functional Neuromics, Children's Medical Research Institute, The University of Sydney, Westmead, NSW, Australia.; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, NSW, Australia.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2023 Jun 05; Vol. 32 (12), pp. 2084-2092.

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Keeping you on your toes: Smith-Lemli-Opitz Syndrome is an easily missed cause of developmental delays.

Autor: Coupe S; NSW Biochemical Genetics Service The Children's Hospital at Westmead Westmead New South Wales Australia., Hertzog A; NSW Biochemical Genetics Service The Children's Hospital at Westmead Westmead New South Wales Australia.; Faculty of Medicine and Health University of Sydney Westmead New South Wales Australia., Foran C; NSW Biochemical Genetics Service The Children's Hospital at Westmead Westmead New South Wales Australia., Tolun AA; NSW Biochemical Genetics Service The Children's Hospital at Westmead Westmead New South Wales Australia.; Faculty of Medicine and Health University of Sydney Westmead New South Wales Australia., Suthern M; Paediatric Department Wagga Wagga Base Hospital Wagga Wagga New South Wales Australia.; Rural Clinical School, Faculty of Medicine and Health University of New South Wales Wagga Wagga New South Wales Australia., Chung CWT; Department of Clinical Genetics Liverpool Hospital Liverpool New South Wales Australia.; School of Women's and Children's Health University of New South Wales Sydney New South Wales Australia., Ellaway C; Faculty of Medicine and Health University of Sydney Westmead New South Wales Australia.; Genetic Metabolic Disorders Service The Children's Hospital at Westmead Westmead New South Wales Australia.

Publikováno v: Clinical case reports [Clin Case Rep] 2023 Feb 19; Vol. 11 (2), pp. e6920. Date of Electronic Publication: 2023 Feb 19 (Print Publication: 2023).

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