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Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing.
Evans, D Gareth; Hartley, Claire L; Smith, Philip T; King, Andrew T; Bowers, Naomi L; Tobi, Simon; Wallace, Andrew J; Perry, Mary; Anup, Raji; Lloyd, Simon K W; Rutherford, Scott A; Hammerbeck-Ward, Charlotte; Pathmanaban, Omar N; Stapleton, Emma; Freeman, Simon R; Kellett, Mark; Halliday, Dorothy; Parry, Allyson; Gair, Juliette J; Axon, Patrick; Laitt, Roger; Thomas, Owen; Afridi, Shazia K; Obholzer, Rupert; Duff, Chris; Stivaros, Stavros M; Vassallo, Grace; Harkness, Elaine F; Smith, Miriam J.
Afiliação
  • Evans DG; NW Genomic Laboratory hub, Manchester Centre for Genomic Medicine, St Mary's Hospital, Division of Evolution and Genomic Science, University of Manchester, Manchester, UK. gareth.evans@mft.nhs.uk.
  • Hartley CL; NW Genomic Laboratory hub, Manchester Centre for Genomic Medicine, St Mary's Hospital, Division of Evolution and Genomic Science, University of Manchester, Manchester, UK.
  • Smith PT; NW Genomic Laboratory hub, Manchester Centre for Genomic Medicine, St Mary's Hospital, Division of Evolution and Genomic Science, University of Manchester, Manchester, UK.
  • King AT; Department of Neurosurgery, Manchester Centre for Clinical Neurosciences, Salford Royal Foundation Trust, Manchester, UK.
  • Bowers NL; NW Genomic Laboratory hub, Manchester Centre for Genomic Medicine, St Mary's Hospital, Division of Evolution and Genomic Science, University of Manchester, Manchester, UK.
  • Tobi S; NW Genomic Laboratory hub, Manchester Centre for Genomic Medicine, St Mary's Hospital, Division of Evolution and Genomic Science, University of Manchester, Manchester, UK.
  • Wallace AJ; NW Genomic Laboratory hub, Manchester Centre for Genomic Medicine, St Mary's Hospital, Division of Evolution and Genomic Science, University of Manchester, Manchester, UK.
  • Perry M; NW Genomic Laboratory hub, Manchester Centre for Genomic Medicine, St Mary's Hospital, Division of Evolution and Genomic Science, University of Manchester, Manchester, UK.
  • Anup R; NW Genomic Laboratory hub, Manchester Centre for Genomic Medicine, St Mary's Hospital, Division of Evolution and Genomic Science, University of Manchester, Manchester, UK.
  • Lloyd SKW; Department of Otolaryngology, Manchester Royal Infirmary, University of Manchester, Manchester, UK.
  • Rutherford SA; Salford Royal Foundation Trust, Manchester, UK.
  • Hammerbeck-Ward C; Department of Neurosurgery, Manchester Centre for Clinical Neurosciences, Salford Royal Foundation Trust, Manchester, UK.
  • Pathmanaban ON; Department of Neurosurgery, Manchester Centre for Clinical Neurosciences, Salford Royal Foundation Trust, Manchester, UK.
  • Stapleton E; Department of Neurosurgery, Manchester Centre for Clinical Neurosciences, Salford Royal Foundation Trust, Manchester, UK.
  • Freeman SR; Department of Otolaryngology, Manchester Royal Infirmary, University of Manchester, Manchester, UK.
  • Kellett M; Salford Royal Foundation Trust, Manchester, UK.
  • Halliday D; Department of Otolaryngology, Manchester Royal Infirmary, University of Manchester, Manchester, UK.
  • Parry A; Salford Royal Foundation Trust, Manchester, UK.
  • Gair JJ; Department of Neurology, Manchester Centre for Clinical Neurosciences, Salford Royal Foundation Trust, Manchester, UK.
  • Axon P; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Trust, Oxford, UK.
  • Laitt R; Neurosciences, Oxford University Hospitals NHS Trust, Oxford, UK.
  • Thomas O; Department of Otolaryngology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
  • Afridi SK; Department of Otolaryngology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
  • Obholzer R; Department of Neuroradiology, Manchester Centre for Clinical Neurosciences, Salford Royal Foundation Trust, Manchester, UK.
  • Duff C; Department of Neurology, Guy's and St Thomas' NHS Foundation Trust, London, UK.
  • Stivaros SM; Department of Neurology, Guy's and St Thomas' NHS Foundation Trust, London, UK.
  • Harkness EF; Department of Plastic Surgery, Manchester Universities Foundation Trust, Manchester, UK.
  • Smith MJ; Department of Paediatric Neurology, Manchester Universities Foundation Trust, Manchester, UK.
Genet Med ; 22(1): 53-59, 2020 01.
Article em En | MEDLINE | ID: mdl-31273341
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neurofibromatose 2 / Neurofibromina 2 / Sequenciamento de Nucleotídeos em Larga Escala / Mosaicismo Tipo de estudo: Incidence_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2020 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neurofibromatose 2 / Neurofibromina 2 / Sequenciamento de Nucleotídeos em Larga Escala / Mosaicismo Tipo de estudo: Incidence_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2020 Tipo de documento: Article