المؤلفون: Bahi-Buisson N; 1 Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France2 Inserm, U1016, Paris, France3 Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Paris, France4 INSERM UMR-1163, Embryology and genetics of congenital malformations, Paris, France5 Service de Neurologie pédiatrique, Assistance Publique-Hôpitaux de Paris (AP-HP), hôpital Necker, Paris, France nadia.bahi-buisson@nck.aphp.fr., Poirier K; 1 Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France2 Inserm, U1016, Paris, France., Fourniol F; 6 CRUK London Research Institute, London, UK., Saillour Y; 1 Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France2 Inserm, U1016, Paris, France., Valence S; 1 Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France2 Inserm, U1016, Paris, France., Lebrun N; 1 Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France2 Inserm, U1016, Paris, France., Hully M; 5 Service de Neurologie pédiatrique, Assistance Publique-Hôpitaux de Paris (AP-HP), hôpital Necker, Paris, France., Bianco CF; 7 Université de Montreal-CHU Sainte Justine, Montreal (QC), Canada., Boddaert N; 8 Service de Radiologie Pédiatrique, AP-HP, hôpital Necker, Paris, France9 Inserm, U797-INSERM-CEA, Service Hospitalier Frédéric Joliot, CEA, 4, place du General Leclerc, 91406, Orsay, France., Elie C; 10 BioInformatic Department-AP-HP, hôpital Necker-Enfants Malades, Paris, France., Lascelles K; 11 Evelina Children's Hospital, St Thomas Hospital, London, UK., Souville I; 12 Service de Biologie Moleculaire et Genetique, Pavillon Cassini AP-HP, Hôpital Cochin, Paris, France., Beldjord C; 12 Service de Biologie Moleculaire et Genetique, Pavillon Cassini AP-HP, Hôpital Cochin, Paris, France., Chelly J; 1 Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France2 Inserm, U1016, Paris, France.

مؤلفون مشاركون: LIS-Tubulinopathies Consortium

المصدر: Brain : a journal of neurology [Brain] 2014 Jun; Vol. 137 (Pt 6), pp. 1676-700.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

مواضيع طبية MeSH: Agenesis of Corpus Callosum/*diagnosis , Lissencephaly/*diagnosis , Malformations of Cortical Development/*diagnosis , Microcephaly/*diagnosis , Mutation/*genetics , Tubulin/*genetics, Adolescent ; Adult ; Agenesis of Corpus Callosum/epidemiology ; Agenesis of Corpus Callosum/genetics ; Cerebellum/abnormalities ; Child ; Child, Preschool ; Developmental Disabilities/diagnosis ; Developmental Disabilities/epidemiology ; Developmental Disabilities/genetics ; Female ; Humans ; Infant ; Lissencephaly/epidemiology ; Male ; Malformations of Cortical Development/epidemiology ; Microcephaly/epidemiology ; Microcephaly/genetics ; Nervous System Malformations/diagnosis ; Nervous System Malformations/epidemiology ; Nervous System Malformations/genetics ; Phenotype ; Young Adult

SCR Disease Name: Cerebellar Hypoplasia