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Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.
Coolen, Marion; Altin, Nami; Rajamani, Karthyayani; Pereira, Eva; Siquier-Pernet, Karine; Puig Lombardi, Emilia; Moreno, Nadjeda; Barcia, Giulia; Yvert, Marianne; Laquerrière, Annie; Pouliet, Aurore; Nitschké, Patrick; Boddaert, Nathalie; Rausell, Antonio; Razavi, Féréchté; Afenjar, Alexandra; Billette de Villemeur, Thierry; Al-Maawali, Almundher; Al-Thihli, Khalid; Baptista, Julia; Beleza-Meireles, Ana; Garel, Catherine; Legendre, Marine; Gelot, Antoinette; Burglen, Lydie; Moutton, Sébastien; Cantagrel, Vincent.
Afiliação
  • Coolen M; Université Paris Cité, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, Paris 75015, France. Electronic address: marion.coolen@inserm.fr.
  • Altin N; Université Paris Cité, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, Paris 75015, France.
  • Rajamani K; Université Paris Cité, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, Paris 75015, France.
  • Pereira E; Université Paris Cité, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, Paris 75015, France.
  • Siquier-Pernet K; Université Paris Cité, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, Paris 75015, France.
  • Puig Lombardi E; Université Paris Cité, Bioinformatics Core Facility, Imagine Institute, INSERM UMR 1163, Paris 75015, France.
  • Moreno N; HDBR Developmental Biology and Cancer, UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.
  • Barcia G; Université Paris Cité, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, Paris 75015, France; Département de Génétique Médicale, AP-HP, Hôpital Necker-Enfants Malades, Paris 75015, France.
  • Yvert M; Centre Pluridisciplinaire de Diagnostic Prénatal, Pôle Mère Enfant, Maison de Santé Protestante Bordeaux Bagatelle, Talence 33400, France.
  • Laquerrière A; Normandie Univ, UNIROUEN, INSERM U1245; Rouen University Hospital, Department of Pathology, Normandy Centre for Genomic and Personalized Medicine, Rouen 76183, France.
  • Pouliet A; Université Paris Cité, Genomics Platform, Imagine Institute, INSERM UMR 1163, Paris 75015, France.
  • Nitschké P; Université Paris Cité, Bioinformatics Core Facility, Imagine Institute, INSERM UMR 1163, Paris 75015, France.
  • Boddaert N; Département de Radiologie Pédiatrique, INSERM UMR 1163 and INSERM U1299, Institut Imagine, AP-HP, Hôpital Necker-Enfants Malades, Paris 75015, France.
  • Rausell A; Université Paris Cité, INSERM UMR1163, Imagine Institute, Clinical Bioinformatics Laboratory and Molecular Genetics Service, Service de Médecine Génomique des Maladies Rares, AP-HP, Hôpital Necker-Enfants Malades, Paris 75015, France.
  • Razavi F; Unité d'Embryofœtopathologie, Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, AP-HP, Paris 75015, France.
  • Afenjar A; Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Département de Génétique, AP-HP, Sorbonne Université, Hôpital Trousseau, Paris 75012, France.
  • Billette de Villemeur T; Sorbonne Université, Service de Neuropédiatrie - Pathologie du Développement, Centre de Référence Déficiences Intellectuelles de Causes Rares et Polyhandicap, Hôpital Trousseau AP-HP, Paris 75012, France.
  • Al-Maawali A; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat 123, Oman; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat 123, Oman.
  • Al-Thihli K; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat 123, Oman; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat 123, Oman.
  • Baptista J; Exeter Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter EX2 5DW, UK; Peninsula Medical School, Faculty of Health, University of Plymouth, Plymouth PL6 8BT, UK.
  • Beleza-Meireles A; Clinical Genetics Department, University Hospitals Bristol and Weston, Bristol BS1 3NU, UK.
  • Garel C; Service de Radiologie Pédiatrique, Hôpital Armand-Trousseau, Médecine Sorbonne Université, AP-HP, Paris 75012, France.
  • Legendre M; Service de Génétique Médicale, CHU Bordeaux, Pellegrin Hospital, Bordeaux 33300, France.
  • Gelot A; Neuropathology, Department of Pathology, Trousseau Hospital, AP-HP, Paris 75012, France; INMED, Aix-Marseille University, INSERM UMR 1249, Marseille 13009, France.
  • Burglen L; Université Paris Cité, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, Paris 75015, France; Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Département de Génétique, AP-HP, Sorbonne Université, Hôpital Trousseau, Paris 75012, France.
  • Moutton S; Centre Pluridisciplinaire de Diagnostic Prénatal, Pôle Mère Enfant, Maison de Santé Protestante Bordeaux Bagatelle, Talence 33400, France.
  • Cantagrel V; Université Paris Cité, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, Paris 75015, France. Electronic address: vincent.cantagrel@inserm.fr.
Am J Hum Genet ; 109(5): 909-927, 2022 05 05.
Article em En | MEDLINE | ID: mdl-35390279
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Peixe-Zebra / Encefalopatias Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Peixe-Zebra / Encefalopatias Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2022 Tipo de documento: Article