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Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus.
Frazier, Ann E; Compton, Alison G; Kishita, Yoshihito; Hock, Daniella H; Welch, AnneMarie E; Amarasekera, Sumudu S C; Rius, Rocio; Formosa, Luke E; Imai-Okazaki, Atsuko; Francis, David; Wang, Min; Lake, Nicole J; Tregoning, Simone; Jabbari, Jafar S; Lucattini, Alexis; Nitta, Kazuhiro R; Ohtake, Akira; Murayama, Kei; Amor, David J; McGillivray, George; Wong, Flora Y; van der Knaap, Marjo S; Jeroen Vermeulen, R; Wiltshire, Esko J; Fletcher, Janice M; Lewis, Barry; Baynam, Gareth; Ellaway, Carolyn; Balasubramaniam, Shanti; Bhattacharya, Kaustuv; Freckmann, Mary-Louise; Arbuckle, Susan; Rodriguez, Michael; Taft, Ryan J; Sadedin, Simon; Cowley, Mark J; Minoche, André E; Calvo, Sarah E; Mootha, Vamsi K; Ryan, Michael T; Okazaki, Yasushi; Stroud, David A; Simons, Cas; Christodoulou, John; Thorburn, David R.
Afiliação
  • Frazier AE; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
  • Compton AG; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.
  • Kishita Y; These authors contributed equally: A.E. Frazier, A.G. Compton.
  • Hock DH; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
  • Welch AE; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.
  • Amarasekera SSC; These authors contributed equally: A.E. Frazier, A.G. Compton.
  • Rius R; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, 113-8421, Japan.
  • Formosa LE; Department of Biochemistry and Molecular Biology and Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Melbourne, VIC 3052, Australia.
  • Imai-Okazaki A; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
  • Francis D; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
  • Wang M; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.
  • Lake NJ; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
  • Tregoning S; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.
  • Jabbari JS; Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, VIC 3800, Australia.
  • Lucattini A; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, 113-8421, Japan.
  • Nitta KR; Division of Genomic Medicine Research, Medical Genomics Center, National Center for Global Health and Medicine, Tokyo 162-8655, Japan.
  • Ohtake A; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
  • Murayama K; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
  • Amor DJ; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
  • McGillivray G; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.
  • Wong FY; Department of Genetics, Yale School of Medicine, New Haven, CT 06510, USA.
  • van der Knaap MS; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
  • Jeroen Vermeulen R; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
  • Wiltshire EJ; Australian Genome Research Facility Ltd, Victorian Comprehensive Cancer Centre, Melbourne VIC 3052, Australia.
  • Fletcher JM; Australian Genome Research Facility Ltd, Victorian Comprehensive Cancer Centre, Melbourne VIC 3052, Australia.
  • Lewis B; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, 113-8421, Japan.
  • Baynam G; Department of Pediatrics & Clinical Genomics, Saitama Medical University Hospital, Saitama, 350-0495, Japan.
  • Ellaway C; Department of Metabolism, Chiba Children's Hospital, Chiba, 266-0007, Japan.
  • Balasubramaniam S; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
  • Bhattacharya K; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.
  • Freckmann ML; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
  • Arbuckle S; Ritchie Centre, Hudson Institute of Medical Research; Department of Paediatrics, Monash University; and Monash Newborn, Monash Children's Hospital, Melbourne, VIC 3168, Australia.
  • Rodriguez M; Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience, 1081 HV Amsterdam, The Netherlands.
  • Taft RJ; Functional Genomics, Center for Neurogenomics and Cognitive Research, Vrije Universiteit and Amsterdam Neuroscience, 1081 HV Amsterdam, The Netherlands.
  • Sadedin S; Department of Neurology, Maastricht University Medical Center, 6229 HX, Maastricht, The Netherlands.
  • Cowley MJ; Department of Paediatrics and Child Health, University of Otago Wellington and Capital and Coast District Health Board, Wellington 6021, New Zealand.
  • Minoche AE; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia.
  • Calvo SE; Department of Clinical Biochemistry, PathWest Laboratory Medicine Western Australia, Nedlands, WA 6009, Australia.
  • Mootha VK; Western Australian Register of Developmental Anomalies and Genetic Services of Western Australia and King Edward Memorial Hospital for Women Perth, Subiaco, WA 6008, Australia.
  • Ryan MT; Telethon Kids Institute and School of Paediatrics and Child Health, The University of Western Australia, Perth, WA 6009, Australia.
  • Okazaki Y; Genetic Metabolic Disorders Service, Sydney Children's Hospital Network, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.
  • Stroud DA; Disciplines of Genomic Medicine and Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW 2145, Australia.
  • Simons C; Genetic Metabolic Disorders Service, Sydney Children's Hospital Network, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.
  • Christodoulou J; Genetic Metabolic Disorders Service, Sydney Children's Hospital Network, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.
  • Thorburn DR; Disciplines of Genomic Medicine and Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW 2145, Australia.
Med ; 2(1): 49-73, 2021 01 15.
Article em En | MEDLINE | ID: mdl-33575671
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Mitocondriais / Insuficiência Cardíaca / Cardiomiopatias Tipo de estudo: Prognostic_studies Limite: Child / Humans País como assunto: America do norte / Oceania Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Mitocondriais / Insuficiência Cardíaca / Cardiomiopatias Tipo de estudo: Prognostic_studies Limite: Child / Humans País como assunto: America do norte / Oceania Idioma: En Ano de publicação: 2021 Tipo de documento: Article