Your browser doesn't support javascript.
loading
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.
Rodger, Catherine; Flex, Elisabetta; Allison, Rachel J; Sanchis-Juan, Alba; Hasenahuer, Marcia A; Cecchetti, Serena; French, Courtney E; Edgar, James R; Carpentieri, Giovanna; Ciolfi, Andrea; Pantaleoni, Francesca; Bruselles, Alessandro; Onesimo, Roberta; Zampino, Giuseppe; Marcon, Francesca; Siniscalchi, Ester; Lees, Melissa; Krishnakumar, Deepa; McCann, Emma; Yosifova, Dragana; Jarvis, Joanna; Kruer, Michael C; Marks, Warren; Campbell, Jonathan; Allen, Louise E; Gustincich, Stefano; Raymond, F Lucy; Tartaglia, Marco; Reid, Evan.
Afiliação
  • Rodger C; Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK; Department of Medical Genetics, University of Cambridge, Cambridge CB2 0QQ, UK.
  • Flex E; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome 00161, Italy.
  • Allison RJ; Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK; Department of Medical Genetics, University of Cambridge, Cambridge CB2 0QQ, UK.
  • Sanchis-Juan A; Department of Haematology, NHS Blood and Transplant Centre, University of Cambridge, Cambridge CB2 0XY, UK; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.
  • Hasenahuer MA; Department of Medical Genetics, University of Cambridge, Cambridge CB2 0QQ, UK; European Molecular Biology Laboratory - European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK.
  • Cecchetti S; Microscopy Area, Core Facilities, Istituto Superiore di Sanità, Rome 00161, Italy.
  • French CE; Department of Medical Genetics, University of Cambridge, Cambridge CB2 0QQ, UK.
  • Edgar JR; Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK; Department of Pathology, University of Cambridge, Cambridge CB2 1QP, UK.
  • Carpentieri G; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome 00161, Italy; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome 00146, Italy.
  • Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome 00146, Italy.
  • Pantaleoni F; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome 00146, Italy.
  • Bruselles A; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome 00161, Italy.
  • Onesimo R; Fondazione Policlinico Universitario A. Gemelli-IRCCS, Rome 00168, Italy.
  • Zampino G; Fondazione Policlinico Universitario A. Gemelli-IRCCS, Rome 00168, Italy; Università Cattolica del Sacro Cuore, Rome 00168, Italy.
  • Marcon F; Unit of Mechanisms, Biomarkers and Models, Department of Environment and Health, Istituto Superiore di Sanità, Rome 00161, Italy.
  • Siniscalchi E; Unit of Mechanisms, Biomarkers and Models, Department of Environment and Health, Istituto Superiore di Sanità, Rome 00161, Italy.
  • Lees M; Department of Clinical Genetics, Great Ormond Street Hospital, London WC1N 3JH, UK.
  • Krishnakumar D; Department of Paediatric Neurology, Cambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, UK.
  • McCann E; Department of Clinical Genetics, Liverpool Women's Hospital, Liverpool L8 7SS, UK.
  • Yosifova D; Department of Medical Genetics, Guys' and St Thomas' NHS Foundation Trust, London SE1 9RT, UK.
  • Jarvis J; Clinical Genetics, Birmingham Women's and Children's NHS Foundation Trust, Birmingham B15 2TG, UK.
  • Kruer MC; Phoenix Children's Hospital, Phoenix, AZ 76109, USA.
  • Marks W; Cook Children's Medical Centre, Fort Worth, TX 76104, USA.
  • Campbell J; Colchester Hospital, East Suffolk and North Essex NHS Foundation Trust, Essex CO4 5JL, UK.
  • Allen LE; Ophthalmology Department, Cambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, UK.
  • Gustincich S; Department of Neuroscience and Brain Technologies, Istituto Italiano di Tecnologia, Genova 16163, Italy; Area of Neuroscience, SISSA, Trieste 34136, Italy.
  • Raymond FL; Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK; Department of Medical Genetics, University of Cambridge, Cambridge CB2 0QQ, UK.
  • Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome 00146, Italy. Electronic address: marco.tartaglia@opbg.net.
  • Reid E; Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK; Department of Medical Genetics, University of Cambridge, Cambridge CB2 0QQ, UK. Electronic address: ealr4@cam.ac.uk.
Am J Hum Genet ; 107(6): 1129-1148, 2020 12 03.
Article em En | MEDLINE | ID: mdl-33186545
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / ATPases Vacuolares Próton-Translocadoras / Complexos Endossomais de Distribuição Requeridos para Transporte / Transtornos do Neurodesenvolvimento / ATPases Associadas a Diversas Atividades Celulares Limite: Animals / Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / ATPases Vacuolares Próton-Translocadoras / Complexos Endossomais de Distribuição Requeridos para Transporte / Transtornos do Neurodesenvolvimento / ATPases Associadas a Diversas Atividades Celulares Limite: Animals / Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Reino Unido