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From process to progress-2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis.
Ferner, Rosalie E; Bakker, Annette; Elgersma, Ype; Evans, D Gareth R; Giovannini, Marco; Legius, Eric; Lloyd, Alison; Messiaen, Ludwine M; Plotkin, Scott; Reilly, Karlyne M; Schindeler, Aaron; Smith, Miriam J; Ullrich, Nicole J; Widemann, Brigitte; Sherman, Larry S.
Afiliação
  • Ferner RE; Department of Neurology, Neurofibromatosis Centre, Guy's and St. Thomas' NHS Foundation Trust, and King's College London, London, UK.
  • Bakker A; Children's Tumor Foundation, New York, New York.
  • Elgersma Y; Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Evans DGR; Centre for Genomic Medicine, St. Mary's Hospital, Manchester, UK.
  • Giovannini M; Manchester Academic Health Sciences Centre (MAHSC), Division of Evolution and Genomic Science, University of Manchester, Manchester, UK.
  • Legius E; Department of Head and Neck Surgery, University of California, Los Angeles.
  • Lloyd A; Department of Human Genetics, University Hospital Leuven, Leuven, Herestraat, Belgium.
  • Messiaen LM; Laboratory for Molecular Cell Biology, University College London, London, UK.
  • Plotkin S; Medical Genomics Laboratory, Department of Genetics, University of Alabama, Birmingham, Alabama.
  • Reilly KM; Department of Neurology and Cancer Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.
  • Schindeler A; Rare Tumors Initiative, Center for Cancer Research, National Institutes of Health, Bethesda, Maryland.
  • Smith MJ; Orthopaedic Research & Biotechnology, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.
  • Ullrich NJ; Centre for Genomic Medicine, St. Mary's Hospital, Manchester, UK.
  • Widemann B; Manchester Academic Health Sciences Centre (MAHSC), Division of Evolution and Genomic Science, University of Manchester, Manchester, UK.
  • Sherman LS; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Am J Med Genet A ; 179(6): 1098-1106, 2019 06.
Article em En | MEDLINE | ID: mdl-30908866
ABSTRACT
The neurofibromatoses are inherited, tumor suppressor disorders that are characterized by multiple, benign peripheral nerve sheath tumors and other nervous system tumors. Each disease is associated with a distinct genetic mutation and with a different pathogenesis and clinical course. Neurofibromatosis 1 (NF1) is common and epitomized by multiple neurofibromas with widespread complications. NF2 and schwannomatosis are rare diseases that are typified by multiple schwannomas that are particularly painful in people with schwannomatosis. Since 1985, the Children's Tumor Foundation (formerly the National Neurofibromatosis Foundation) has hosted an international Neurofibromatosis Conference, bringing together international participants who are focused on NF research and clinical care. The 2017 Conference, held in Washington, DC, was among the largest gatherings of NF researchers to date and included presentations from clinicians and basic scientists, highlighting new data regarding the molecular and cellular mechanisms underlying each of these diseases as well as results from clinical studies and clinical trials. This article summarizes the findings presented at the meeting and represents the current state-of-the art for NF research.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Neoplasias Cutâneas / Neurofibromatose 2 / Neurofibromatose 1 / Neurofibromatoses / Neurilemoma Tipo de estudo: Diagnostic_studies Limite: Animals / Humans Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Reino Unido

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Neoplasias Cutâneas / Neurofibromatose 2 / Neurofibromatose 1 / Neurofibromatoses / Neurilemoma Tipo de estudo: Diagnostic_studies Limite: Animals / Humans Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Reino Unido