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De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.
Gregor, Anne; Sadleir, Lynette G; Asadollahi, Reza; Azzarello-Burri, Silvia; Battaglia, Agatino; Ousager, Lilian Bomme; Boonsawat, Paranchai; Bruel, Ange-Line; Buchert, Rebecca; Calpena, Eduardo; Cogné, Benjamin; Dallapiccola, Bruno; Distelmaier, Felix; Elmslie, Frances; Faivre, Laurence; Haack, Tobias B; Harrison, Victoria; Henderson, Alex; Hunt, David; Isidor, Bertrand; Joset, Pascal; Kumada, Satoko; Lachmeijer, Augusta M A; Lees, Melissa; Lynch, Sally Ann; Martinez, Francisco; Matsumoto, Naomichi; McDougall, Carey; Mefford, Heather C; Miyake, Noriko; Myers, Candace T; Moutton, Sébastien; Nesbitt, Addie; Novelli, Antonio; Orellana, Carmen; Rauch, Anita; Rosello, Monica; Saida, Ken; Santani, Avni B; Sarkar, Ajoy; Scheffer, Ingrid E; Shinawi, Marwan; Steindl, Katharina; Symonds, Joseph D; Zackai, Elaine H; Reis, André; Sticht, Heinrich; Zweier, Christiane.
Afiliação
  • Gregor A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.
  • Sadleir LG; Department of Paediatrics and Child Health, University of Otago, Wellington 6242, New Zealand.
  • Asadollahi R; Institute of Medical Genetics, University of Zurich, 8952 Schlieren-Zurich, Switzerland; radiz - "Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases University of Zurich," 8032 Zurich, Switzerland.
  • Azzarello-Burri S; Institute of Medical Genetics, University of Zurich, 8952 Schlieren-Zurich, Switzerland; radiz - "Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases University of Zurich," 8032 Zurich, Switzerland.
  • Battaglia A; Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry, 56128 Calambrone, Pisa, Italy.
  • Ousager LB; Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark.
  • Boonsawat P; Institute of Medical Genetics, University of Zurich, 8952 Schlieren-Zurich, Switzerland; radiz - "Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases University of Zurich," 8032 Zurich, Switzerland.
  • Bruel AL; INSERM U1231, LNC UMR1231 GAD, Burgundy University, 21079 Dijon, France.
  • Buchert R; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.
  • Calpena E; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK.
  • Cogné B; Department of Medical Genetics, CHU Nantes, 44093 Nantes, France; l'Institut du Thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France.
  • Dallapiccola B; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome 00146, Italy.
  • Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital Düsseldorf, Medical Faculty, Heinrich Heine University, 40225 Düsseldorf, Germany.
  • Elmslie F; South West Thames Regional Genetics Service, St. George's, University of London, London SW17 0RE, UK.
  • Faivre L; INSERM U1231, LNC UMR1231 GAD, Burgundy University, 21079 Dijon, France; Reference Center for Developmental Anomalies, Department of Medical Genetics, Dijon University Hospital, 21000 Dijon, France.
  • Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.
  • Harrison V; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton SO16 5YA, UK.
  • Henderson A; Northern Genetics Service, Newcastle upon Tyne Hospitals, Newcastle upon Tyne NE1 3BZ, UK.
  • Hunt D; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton SO16 5YA, UK.
  • Isidor B; Department of Medical Genetics, CHU Nantes, 44093 Nantes, France.
  • Joset P; Institute of Medical Genetics, University of Zurich, 8952 Schlieren-Zurich, Switzerland; radiz - "Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases University of Zurich," 8032 Zurich, Switzerland.
  • Kumada S; Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo 183-0042, Japan.
  • Lachmeijer AMA; Department of Genetics, University Medical Center Utrecht, PO Box 85090, 3508 AB Utrecht, the Netherlands.
  • Lees M; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street Hospital, London WC1N 3JH, UK.
  • Lynch SA; Dept of Clinical Genetics, Temple Street Children's Hospital Dublin 1, D12 V004 Dublin, Ireland.
  • Martinez F; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Avda Fernando Abril Martorell 106, 46026 Valencia, Spain.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • McDougall C; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Mefford HC; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  • Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Myers CT; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  • Moutton S; INSERM U1231, LNC UMR1231 GAD, Burgundy University, 21079 Dijon, France; Reference Center for Developmental Anomalies, Department of Medical Genetics, Dijon University Hospital, 21000 Dijon, France.
  • Nesbitt A; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Novelli A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome 00146, Italy.
  • Orellana C; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Avda Fernando Abril Martorell 106, 46026 Valencia, Spain.
  • Rauch A; Institute of Medical Genetics, University of Zurich, 8952 Schlieren-Zurich, Switzerland; radiz - "Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases University of Zurich," 8032 Zurich, Switzerland.
  • Rosello M; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Avda Fernando Abril Martorell 106, 46026 Valencia, Spain.
  • Saida K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Santani AB; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Sarkar A; Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, The Gables, Hucknall Road, Nottingham NG5 1PB, UK.
  • Scheffer IE; Departments of Medicine and Paediatrics, Austin Health and Royal Children's Hospital, The University of Melbourne, Parkville, VIC 3050, Australia.
  • Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.
  • Steindl K; Institute of Medical Genetics, University of Zurich, 8952 Schlieren-Zurich, Switzerland; radiz - "Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases University of Zurich," 8032 Zurich, Switzerland.
  • Symonds JD; Paediatric Neurosciences Research Group, Fraser of Allander Neurosciences Unit, Royal Hospital for Children, Glasgow G51 4TF, UK.
  • Zackai EH; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.
  • Sticht H; Institute of Biochemistry, Emil-Fischer Center, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.
  • Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany. Electronic address: christiane.zweier@uk-erlangen.de.
Am J Hum Genet ; 103(2): 305-316, 2018 08 02.
Article em En | MEDLINE | ID: mdl-30057029
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteína-Arginina N-Metiltransferases / Variação Genética / Proteínas F-Box / Transtornos do Neurodesenvolvimento Tipo de estudo: Prognostic_studies Limite: Child / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Alemanha
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteína-Arginina N-Metiltransferases / Variação Genética / Proteínas F-Box / Transtornos do Neurodesenvolvimento Tipo de estudo: Prognostic_studies Limite: Child / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Alemanha