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De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.
Holt, Richard J; Young, Rodrigo M; Crespo, Berta; Ceroni, Fabiola; Curry, Cynthia J; Bellacchio, Emanuele; Bax, Dorine A; Ciolfi, Andrea; Simon, Marleen; Fagerberg, Christina R; van Binsbergen, Ellen; De Luca, Alessandro; Memo, Luigi; Dobyns, William B; Mohammed, Alaa Afif; Clokie, Samuel J H; Zazo Seco, Celia; Jiang, Yong-Hui; Sørensen, Kristina P; Andersen, Helle; Sullivan, Jennifer; Powis, Zöe; Chassevent, Anna; Smith-Hicks, Constance; Petrovski, Slavé; Antoniadi, Thalia; Shashi, Vandana; Gelb, Bruce D; Wilson, Stephen W; Gerrelli, Dianne; Tartaglia, Marco; Chassaing, Nicolas; Calvas, Patrick; Ragge, Nicola K.
Afiliación
  • Holt RJ; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford OX3 0BP, UK.
  • Young RM; Department of Cell and Developmental Biology, Biosciences, University College London, Gower St, London WC1E 6BT, UK; Institute of Ophthalmology, University College London, 11-34 Bath Street, London EC1V 9EL, UK.
  • Crespo B; Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.
  • Ceroni F; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford OX3 0BP, UK.
  • Curry CJ; Genetic Medicine, University of California, San Francisco/Fresno, Fresno, CA 93701, USA.
  • Bellacchio E; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Scientific Institute for Research, Hospitalization, and Healthcare, 00146 Rome, Italy.
  • Bax DA; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford OX3 0BP, UK.
  • Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Scientific Institute for Research, Hospitalization, and Healthcare, 00146 Rome, Italy.
  • Simon M; Department of Genetics, University Medical Center Utrecht, 3508 GA Utrecht, the Netherlands.
  • Fagerberg CR; Department of Clinical Genetics, Odense University Hospital, 5000 Odense C, Denmark.
  • van Binsbergen E; Department of Genetics, University Medical Center Utrecht, 3508 GA Utrecht, the Netherlands.
  • De Luca A; Molecular Genetics Unit, Fondazione Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
  • Memo L; Unità Operativa Complessa di Pediatria e Patologia Neonatale, Ospedale San Martino, 32100 Belluno, Italy.
  • Dobyns WB; University of Washington, Seattle, WA 98195-6320, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle WA 98101, USA.
  • Mohammed AA; West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's National Health Service Foundation Trust, Mindelsohn Way, Edgbaston, Birmingham B15 2TG, UK; Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, 11562 Cairo, Egypt.
  • Clokie SJH; West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's National Health Service Foundation Trust, Mindelsohn Way, Edgbaston, Birmingham B15 2TG, UK.
  • Zazo Seco C; UDEAR, Université de Toulouse, UMRS 1056 Institut National de la Santé et de la Recherche Médicale-Université Paul Sabatier, 31059 Toulouse, France.
  • Jiang YH; Department of Pediatrics and Neurobiology, Program in Genetics and Genomics, Duke University School of Medicine, Durham, NC 27710, USA.
  • Sørensen KP; Department of Clinical Genetics, Odense University Hospital, 5000 Odense C, Denmark.
  • Andersen H; Hans Christian Andersen Children's Hospital, Odense University Hospital, 5000 Odense C, Odense, Denmark.
  • Sullivan J; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC 27710, USA.
  • Powis Z; Department of Clinical Affairs, Ambry Genetics, Aliso Viejo, CA 92656, USA.
  • Chassevent A; Department of Neurology, Division of Neurogenetics Kennedy Krieger Institute, Baltimore, MD 21205, USA.
  • Smith-Hicks C; Department of Neurology, Division of Neurogenetics Kennedy Krieger Institute, Baltimore, MD 21205, USA.
  • Petrovski S; Centre for Genomics Research, Discovery Sciences, Biopharmaceuticals R&D, AstraZeneca, Cambridge, CB4 0WG, UK; Department of Medicine, the University of Melbourne, Melbourne, VIC 3010, Australia.
  • Antoniadi T; West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's National Health Service Foundation Trust, Mindelsohn Way, Edgbaston, Birmingham B15 2TG, UK.
  • Shashi V; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC 27710, USA.
  • Gelb BD; Mindich Child Health and Development Institute, Department of Pediatrics, and Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
  • Wilson SW; Department of Cell and Developmental Biology, Biosciences, University College London, Gower St, London WC1E 6BT, UK.
  • Gerrelli D; Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.
  • Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Scientific Institute for Research, Hospitalization, and Healthcare, 00146 Rome, Italy.
  • Chassaing N; UDEAR, Université de Toulouse, UMRS 1056 Institut National de la Santé et de la Recherche Médicale-Université Paul Sabatier, 31059 Toulouse, France; Department of Medical Genetics, Purpan University Hospital, 31059 Toulouse, France.
  • Calvas P; UDEAR, Université de Toulouse, UMRS 1056 Institut National de la Santé et de la Recherche Médicale-Université Paul Sabatier, 31059 Toulouse, France; Department of Medical Genetics, Purpan University Hospital, 31059 Toulouse, France.
  • Ragge NK; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford OX3 0BP, UK; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's National Health Service Foundation Trust, Birmingham, B15 2TG, UK. Electronic address: nragge@brookes
Am J Hum Genet ; 105(3): 640-657, 2019 09 05.
Article en En | MEDLINE | ID: mdl-31402090
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Encéfalo / Anomalías del Ojo / Mutación Missense / Ubiquitina-Proteína Ligasas / Proteínas con Repetición de beta-Transducina / Dedos Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2019 Tipo del documento: Article País de afiliación: Reino Unido
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Encéfalo / Anomalías del Ojo / Mutación Missense / Ubiquitina-Proteína Ligasas / Proteínas con Repetición de beta-Transducina / Dedos Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2019 Tipo del documento: Article País de afiliación: Reino Unido