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Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy.
Hildebrand, Michael S; Griffin, Nicole G; Damiano, John A; Cops, Elisa J; Burgess, Rosemary; Ozturk, Ezgi; Jones, Nigel C; Leventer, Richard J; Freeman, Jeremy L; Harvey, A Simon; Sadleir, Lynette G; Scheffer, Ingrid E; Major, Heather; Darbro, Benjamin W; Allen, Andrew S; Goldstein, David B; Kerrigan, John F; Berkovic, Samuel F; Heinzen, Erin L.
Afiliação
  • Hildebrand MS; Epilepsy Research Center, Department of Medicine, The University of Melbourne and Austin Health, Heidelberg, VIC 3084, Australia.
  • Griffin NG; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.
  • Damiano JA; Epilepsy Research Center, Department of Medicine, The University of Melbourne and Austin Health, Heidelberg, VIC 3084, Australia.
  • Cops EJ; Epilepsy Research Center, Department of Medicine, The University of Melbourne and Austin Health, Heidelberg, VIC 3084, Australia.
  • Burgess R; Epilepsy Research Center, Department of Medicine, The University of Melbourne and Austin Health, Heidelberg, VIC 3084, Australia.
  • Ozturk E; Department of Medicine, The University of Melbourne and The Royal Melbourne Hospital, Parkville, VIC 3050, Australia.
  • Jones NC; Department of Medicine, The University of Melbourne and The Royal Melbourne Hospital, Parkville, VIC 3050, Australia.
  • Leventer RJ; Department of Neurology, The Royal Children's Hospital, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne and The Royal Children's Hospital, Parkville, VIC 3052, Australia; Murdoch Childrens Research Institute, The Royal Children's Hospital, Parkville, VIC 3052, Aust
  • Freeman JL; Department of Neurology, The Royal Children's Hospital, Parkville, VIC 3052, Australia.
  • Harvey AS; Department of Neurology, The Royal Children's Hospital, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne and The Royal Children's Hospital, Parkville, VIC 3052, Australia; Murdoch Childrens Research Institute, The Royal Children's Hospital, Parkville, VIC 3052, Aust
  • Sadleir LG; Department of Paediatrics and Child Health, University of Otago, Wellington 9016, New Zealand.
  • Scheffer IE; Epilepsy Research Center, Department of Medicine, The University of Melbourne and Austin Health, Heidelberg, VIC 3084, Australia; Department of Paediatrics, University of Melbourne and The Royal Children's Hospital, Parkville, VIC 3052, Australia; The Florey Institute of Neuroscience and Mental Heal
  • Major H; Department of Pediatrics, The University of Iowa, Iowa City, IA 52246, USA.
  • Darbro BW; Department of Pediatrics, The University of Iowa, Iowa City, IA 52246, USA.
  • Allen AS; Department of Biostatistics and Bioinformatics, Duke University, Durham, NC 27710, USA.
  • Goldstein DB; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.
  • Kerrigan JF; Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85013, USA.
  • Berkovic SF; Epilepsy Research Center, Department of Medicine, The University of Melbourne and Austin Health, Heidelberg, VIC 3084, Australia. Electronic address: s.berkovic@unimelb.edu.au.
  • Heinzen EL; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA; Department of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA. Electronic address: eh2682@cumc.columbia.edu.
Am J Hum Genet ; 99(2): 423-9, 2016 08 04.
Article em En | MEDLINE | ID: mdl-27453577
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transdução de Sinais / Epilepsias Parciais / Proteínas Hedgehog / Hamartoma / Doenças Hipotalâmicas / Mutação Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transdução de Sinais / Epilepsias Parciais / Proteínas Hedgehog / Hamartoma / Doenças Hipotalâmicas / Mutação Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article