Your browser doesn't support javascript.
loading
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
Engel, Camille; Valence, Stéphanie; Delplancq, Geoffroy; Maroofian, Reza; Accogli, Andrea; Agolini, Emanuele; Alkuraya, Fowzan S; Baglioni, Valentina; Bagnasco, Irene; Becmeur-Lefebvre, Mathilde; Bertini, Enrico; Borggraefe, Ingo; Brischoux-Boucher, Elise; Bruel, Ange-Line; Brusco, Alfredo; Bubshait, Dalal K; Cabrol, Christelle; Cilio, Maria Roberta; Cornet, Marie-Coralie; Coubes, Christine; Danhaive, Olivier; Delague, Valérie; Denommé-Pichon, Anne-Sophie; Di Giacomo, Marilena Carmela; Doco-Fenzy, Martine; Engels, Hartmut; Cremer, Kirsten; Gérard, Marion; Gleeson, Joseph G; Heron, Delphine; Goffeney, Joanna; Guimier, Anne; Harms, Frederike L; Houlden, Henry; Iacomino, Michele; Kaiyrzhanov, Rauan; Kamien, Benjamin; Karimiani, Ehsan Ghayoor; Kraus, Dror; Kuentz, Paul; Kutsche, Kerstin; Lederer, Damien; Massingham, Lauren; Mignot, Cyril; Morris-Rosendahl, Déborah; Nagarajan, Lakshmi; Odent, Sylvie; Ormières, Clothilde; Partlow, Jennifer Neil; Pasquier, Laurent.
Afiliación
  • Engel C; Centre de Génétique Humaine, Centre Hospitalier Régional Universitaire, Université de Franche-Comté, Besançon, France. cengel@chu-besancon.fr.
  • Valence S; Service de Neurologie Pédiatrique, Hôpital Armand Trousseau, APHP Sorbonne Université, Paris, France.
  • Delplancq G; Centre de Génétique Humaine, Centre Hospitalier Régional Universitaire, Université de Franche-Comté, Besançon, France.
  • Maroofian R; Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology, University College London, London, UK.
  • Accogli A; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada.
  • Agolini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Baglioni V; Department of Human Neurosciences, Institute of Child and Adolescent Neuropsychiatry, Sapienza University of Rome, Rome, Italy.
  • Bagnasco I; Division of Neuropsychiatry, Epilepsy Center for Children, Martini Hospital, 10141, Turin, Italy.
  • Becmeur-Lefebvre M; Service de Génétique Clinique, CHR d'Orléans, Orléans, France.
  • Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
  • Borggraefe I; Department of Pediatric Neurology, Developmental Medicine and Social Pediatrics, University of Munich, 80337, Munich, Germany.
  • Brischoux-Boucher E; Centre de Génétique Humaine, Centre Hospitalier Régional Universitaire, Université de Franche-Comté, Besançon, France.
  • Bruel AL; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.
  • Brusco A; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
  • Bubshait DK; Department of Medical Sciences, University of Torino, 10126, Turin, Italy.
  • Cabrol C; Department of Pediatrics, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.
  • Cilio MR; Centre de Génétique Humaine, Centre Hospitalier Régional Universitaire, Université de Franche-Comté, Besançon, France.
  • Cornet MC; Department of Pediatrics, Division of Pediatric Neurology Saint-Luc University Hospital, and Institute of Neuroscience (IoNS), Catholic University of Louvain, Brussels, Belgium.
  • Coubes C; Department of Pediatrics, Division of Neonatology, University of California San Francisco, San Francisco, CA, USA.
  • Danhaive O; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHU de Montpellier, Montpellier, France.
  • Delague V; Division of Neonatology, Saint-Luc university Hospital, and Institut of Clinical and Experimental Research (IREC), Bruxelles, Belgium.
  • Denommé-Pichon AS; Aix Marseille Univ, INSERM, Marseille Medical Genetics Center, MMG, Marseille, France.
  • Di Giacomo MC; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.
  • Doco-Fenzy M; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
  • Engels H; Medical Genetics Service and Laboratory of Cytogenetics, SIC Anatomia Patologica, "San Carlo" Hospital, 85100, Potenza, Italy.
  • Cremer K; CHU Reims, Service de Génétique, Reims, France.
  • Gérard M; CHU de Nantes, service de génétique médicale, Nantes, France.
  • Gleeson JG; L'institut du thorax, INSERM, UNIV Nantes, Nantes, France.
  • Heron D; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
  • Goffeney J; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
  • Guimier A; Clinical Genetics, Côte de Nacre University Hospital Center, Caen, France.
  • Harms FL; University of California San Diego, Department of Neurosciences, Rady Children's Institute for Genomic Medicine, San Diego, CA, 92037, USA.
  • Houlden H; Department of Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France.
  • Iacomino M; Service de neuropédiatrie, Centre Hospitalier Régional Universitaire, Université de Franche-Comté, Besançon, France.
  • Kaiyrzhanov R; Service de Médecine Génomique des Maladies Rares, Hôpital Necker Enfants Malades, Institut Imagine et Université Paris-Cité, Paris, France.
  • Kamien B; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Karimiani EG; Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology, University College London, London, UK.
  • Kraus D; Unit of Medical Genetics, IRCCS Instituto Giannina Gaslini, Genova, Italy.
  • Kuentz P; Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology, University College London, London, UK.
  • Kutsche K; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA, 6008, Australia.
  • Lederer D; Department of Molecular Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.
  • Massingham L; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, SW17 0RE, UK.
  • Mignot C; Department of Neurology, Schneider Children's Medical Center of Israel, Petah Tiqva, Israel.
  • Morris-Rosendahl D; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 6997801, Israel.
  • Nagarajan L; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.
  • Odent S; Oncobiologie Génétique Bioinformatique, PCBio, CHU Besançon, Besançon, France.
  • Ormières C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Partlow JN; Institute for Pathology and Genetics, 6040, Gosselies, Belgium.
  • Pasquier L; Division of Medical Genetics, Department of Pediatrics, Hasbro Children's Hospital, Providence, RI, USA.
Eur J Hum Genet ; 31(9): 1023-1031, 2023 09.
Article en En | MEDLINE | ID: mdl-37344571
Asunto(s)
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Enfermedades Neurodegenerativas / Epilepsia Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Francia
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Enfermedades Neurodegenerativas / Epilepsia Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Francia