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ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder.
Oates, Stephanie; Absoud, Michael; Goyal, Sushma; Bayley, Sophie; Baulcomb, Jennifer; Sims, Annemarie; Riddett, Amy; Allis, Katrina; Brasch-Andersen, Charlotte; Balasubramanian, Meena; Bai, Renkui; Callewaert, Bert; Hüffmeier, Ulrike; Le Duc, Diana; Radtke, Maximilian; Korff, Christian; Kennedy, Joanna; Low, Karen; Møller, Rikke S; Nielsen, Jens Erik Klint; Popp, Bernt; Quteineh, Lina; Rønde, Gitte; Schönewolf-Greulich, Bitten; Shillington, Amelle; Taylor, Matthew Rg; Todd, Emily; Torring, Pernille M; Tümer, Zeynep; Vasileiou, Georgia; Yates, T Michael; Zweier, Christiane; Rosch, Richard; Basson, M Albert; Pal, Deb K.
Afiliación
  • Oates S; Department of Paediatric Neuroscience, King's College Hospital, London, UK.
  • Absoud M; Department of Basic and Clinical Neurosciences, Institute of Psychiatry, Psychology & Neuroscience, Kings College London, London, UK.
  • Goyal S; Newcomen Children's Neurosciences Centre, Evelina London Children's Hospital, London, UK.
  • Bayley S; Department of Women and Children's Health, Faculty of Life Sciences and Medicine, King's College London, London, UK.
  • Baulcomb J; Newcomen Children's Neurosciences Centre, Evelina London Children's Hospital, London, UK.
  • Sims A; Department of Basic and Clinical Neurosciences, Institute of Psychiatry, Psychology & Neuroscience, Kings College London, London, UK.
  • Riddett A; Newcomen Children's Neurosciences Centre, Evelina London Children's Hospital, London, UK.
  • Allis K; Newcomen Children's Neurosciences Centre, Evelina London Children's Hospital, London, UK.
  • Brasch-Andersen C; Newcomen Children's Neurosciences Centre, Evelina London Children's Hospital, London, UK.
  • Balasubramanian M; Genetic Counselor, Mitochondrial and Metabolic Genetics, GeneDx, Gaithersburg, Maryland, USA.
  • Bai R; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
  • Callewaert B; Human Genetics, Department of Clinical Research, University of Southern Denmark, Odense, Denmark.
  • Hüffmeier U; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
  • Le Duc D; Academic Unit of Child Health, Department of Oncology & Metabolism, University of Sheffield, Sheffield, UK.
  • Radtke M; Genetic Counselor, Mitochondrial and Metabolic Genetics, GeneDx, Gaithersburg, Maryland, USA.
  • Korff C; Centre for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Kennedy J; Institute of Human Genetics, Friedrich-Alexander Universitat of Erlangen-Nurnberg, Erlangen, Germany.
  • Low K; Institute of Human Genetics, University of Leipzig Medical Centre, Leipzig, Germany.
  • Møller RS; Institute of Human Genetics, University of Leipzig Medical Centre, Leipzig, Germany.
  • Nielsen JEK; Pediatric Neurology Unit, University Hospitals, Geneva, Switzerland.
  • Popp B; Department of Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.
  • Quteineh L; Department of Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.
  • Rønde G; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.
  • Schönewolf-Greulich B; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.
  • Shillington A; Department of Clinical Genetics, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.
  • Taylor MR; Institute of Human Genetics, Friedrich-Alexander Universitat of Erlangen-Nurnberg, Erlangen, Germany.
  • Todd E; Pediatric Neurology Unit, University Hospitals, Geneva, Switzerland.
  • Torring PM; Service of Genetic Medicine, Geneva University Hospitals, Geneva, Switzerland.
  • Tümer Z; Department of Clinical Genetics, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.
  • Vasileiou G; Department of Clinical Genetics, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.
  • Yates TM; Pediatric Genetics, Cincinnati Children's Hospital Medical Centre, USA.
  • Zweier C; University of Colorado Anschutz Medical Campus, Adult Medical Genetics Program, Aurora, Colorado, USA.
  • Rosch R; University of Colorado Anschutz Medical Campus, Adult Medical Genetics Program, Aurora, Colorado, USA.
  • Basson MA; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
  • Pal DK; Department of Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.
Clin Genet ; 100(4): 412-429, 2021 10.
Article en En | MEDLINE | ID: mdl-34216016
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Variación Genética / Proteínas de Ciclo Celular / Proteínas de Unión al ADN / Epilepsia / Proteínas Co-Represoras / Trastornos del Neurodesarrollo Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Clin Genet Año: 2021 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Variación Genética / Proteínas de Ciclo Celular / Proteínas de Unión al ADN / Epilepsia / Proteínas Co-Represoras / Trastornos del Neurodesarrollo Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Clin Genet Año: 2021 Tipo del documento: Article