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Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
Parenti, Ilaria; Lehalle, Daphné; Nava, Caroline; Torti, Erin; Leitão, Elsa; Person, Richard; Mizuguchi, Takeshi; Matsumoto, Naomichi; Kato, Mitsuhiro; Nakamura, Kazuyuki; de Man, Stella A; Cope, Heidi; Shashi, Vandana; Friedman, Jennifer; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Muffels, Irena; van Hasselt, Peter M; Petit, Florence; Smol, Thomas; Le Guyader, Gwenaël; Bilan, Frédéric; Sorlin, Arthur; Vitobello, Antonio; Philippe, Christophe; van de Laar, Ingrid M B H; van Slegtenhorst, Marjon A; Campeau, Philippe M; Au, Ping Yee Billie; Nakashima, Mitsuko; Saitsu, Hirotomo; Yamamoto, Tatsuya; Nomura, Yumiko; Louie, Raymond J; Lyons, Michael J; Dobson, Amy; Plomp, Astrid S; Motazacker, M Mahdi; Kaiser, Frank J; Timberlake, Andrew T; Fuchs, Sabine A; Depienne, Christel; Mignot, Cyril.
Afiliación
  • Parenti I; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
  • Lehalle D; Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière and Hôpital Trousseau, APHP, Sorbonne Université, Paris, France.
  • Nava C; Institut du Cerveau (ICM), UMR S 1127, Inserm U1127, CNRS UMR 7225, Sorbonne Université, 75013, Paris, France.
  • Torti E; GeneDx, Gaithersburg, MD, USA.
  • Leitão E; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
  • Person R; GeneDx, Gaithersburg, MD, USA.
  • Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.
  • Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo, 142-8666, Japan.
  • Nakamura K; Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata, 990-9585, Japan.
  • de Man SA; Department of Pediatrics, Amphia Hospital, Breda, The Netherlands.
  • Cope H; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.
  • Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.
  • Friedman J; Departments of Neuroscience and Pediatrics, Division of Neurology, Rady Children's Hospital, UCSD, San Diego and Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
  • Joset P; Institute of Medical Genetics, University of Zurich, Schlieren, 8952, Zurich, Switzerland.
  • Steindl K; Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases University of Zurich, 8032, Zurich, Switzerland.
  • Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren, 8952, Zurich, Switzerland.
  • Muffels I; Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases University of Zurich, 8032, Zurich, Switzerland.
  • van Hasselt PM; Institute of Medical Genetics, University of Zurich, Schlieren, 8952, Zurich, Switzerland.
  • Petit F; Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases University of Zurich, 8032, Zurich, Switzerland.
  • Smol T; Department of Metabolic Diseases, University Medical Centre Utrecht, Utrecht, The Netherlands.
  • Le Guyader G; Department of Metabolic Diseases, University Medical Centre Utrecht, Utrecht, The Netherlands.
  • Bilan F; Clinique de Génétique, CHU Lille, 59000, Lille, France.
  • Sorlin A; Institut de Génétique Médicale, CHRU Lille, Université de Lille, Lille, France.
  • Vitobello A; Service de Génétique Médicale, CHU de Poitiers, Poitiers, France.
  • Philippe C; EA3808 NEUVACOD, University of Poitiers, Poitiers, France.
  • van de Laar IMBH; Service de Génétique Médicale, CHU de Poitiers, Poitiers, France.
  • van Slegtenhorst MA; EA3808 NEUVACOD, University of Poitiers, Poitiers, France.
  • Campeau PM; Unité Fonctionnelle d'Innovation Diagnostique des Maladies Rares, FHU-TRANSLAD, France Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon Bourgogne, CHU Dijon Bourgogne, Dijon, France.
  • Au PYB; INSERM-Université de Bourgogne UMR1231 GAD « Génétique Des Anomalies du Développement ¼, FHU-TRANSLAD, UFR Des Sciences de Santé, Dijon, France.
  • Nakashima M; Centre de Référence Maladies Rares «Anomalies du Développement et Syndromes Malformatifs ¼, Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
  • Saitsu H; Unité Fonctionnelle d'Innovation Diagnostique des Maladies Rares, FHU-TRANSLAD, France Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon Bourgogne, CHU Dijon Bourgogne, Dijon, France.
  • Yamamoto T; INSERM-Université de Bourgogne UMR1231 GAD « Génétique Des Anomalies du Développement ¼, FHU-TRANSLAD, UFR Des Sciences de Santé, Dijon, France.
  • Nomura Y; Unité Fonctionnelle d'Innovation Diagnostique des Maladies Rares, FHU-TRANSLAD, France Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon Bourgogne, CHU Dijon Bourgogne, Dijon, France.
  • Louie RJ; INSERM-Université de Bourgogne UMR1231 GAD « Génétique Des Anomalies du Développement ¼, FHU-TRANSLAD, UFR Des Sciences de Santé, Dijon, France.
  • Lyons MJ; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Dobson A; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Plomp AS; CHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada.
  • Motazacker MM; Sainte-Justine Hospital, University of Montreal, Montreal, QC, H3T 1C5, Canada.
  • Kaiser FJ; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, T2N 4N1, Canada.
  • Timberlake AT; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, 431-3192, Japan.
  • Fuchs SA; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, 431-3192, Japan.
  • Depienne C; Department of Pediatrics, Hirosaki University Graduate School of Medicine and School of Medicine, Hirosaki, 036-8562, Japan.
  • Mignot C; Department of Pediatrics, Hirosaki National Hospital, Hirosaki, 036-8545, Japan.
Hum Genet ; 140(7): 1109-1120, 2021 Jul.
Article en En | MEDLINE | ID: mdl-33944996
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: ADN Helicasas / Mutación Missense / Trastornos del Neurodesarrollo / Discapacidad Intelectual / Proteínas del Tejido Nervioso Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Hum Genet Año: 2021 Tipo del documento: Article País de afiliación: Alemania
Texto completo
Imprimir
XML
PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: ADN Helicasas / Mutación Missense / Trastornos del Neurodesarrollo / Discapacidad Intelectual / Proteínas del Tejido Nervioso Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Hum Genet Año: 2021 Tipo del documento: Article País de afiliación: Alemania