Unraveling Chylomicron Retention Disease Enhances Insight into SAR1B GTPase Functions and Mechanisms of Actions, While Shedding Light of Intracellular Chylomicron Trafficking.

Autor: Levy E; Azrieli Research Center, CHU Ste-Justine and Department of Nutrition, Université de Montréal, Montreal, QC H3T 1C5, Canada., Fallet-Bianco C; Azrieli Research Center, CHU Ste-Justine and Pathology & Cell Biology, Université de Montréal, Montreal, QC H3T 1C5, Canada., Auclair N; Azrieli Research Center, CHU Ste-Justine and Pharmacology, Université de Montréal, Montreal, QC H3T 1C5, Canada., Patey N; Azrieli Research Center, CHU Ste-Justine and Pathology & Cell Biology, Université de Montréal, Montreal, QC H3T 1C5, Canada., Marcil V; Azrieli Research Center, CHU Ste-Justine and Department of Nutrition, Université de Montréal, Montreal, QC H3T 1C5, Canada., Sané AT; Azrieli Research Center, CHU Ste-Justine, Montreal, QC H3T 1C5, Canada., Spahis S; Azrieli Research Center, CHU Ste-Justine and Biochemistry & Molecular Medicine, Université de Montréal, Montreal, QC H3T 1C5, Canada.

Publikováno v: Biomedicines [Biomedicines] 2024 Jul 12; Vol. 12 (7). Date of Electronic Publication: 2024 Jul 12.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

mTOR Pathway Somatic Pathogenic Variants in Focal Malformations of Cortical Development: Novel Variants, Topographic Mapping, and Clinical Outcomes.

Autor: Krochmalnek E; From the Research Institute of the McGill University Health Centre (E.K., J.S.-O., N.A.-B., L.M., E.B., K.A.M., J.L.-L., J.-B.R., R.W.D., M.S.); Integrated Program in Neuroscience (E.K.), McGill University; Department of Specialized Medicine (A.A.), McGill University Health Centre; Department of Human Genetics (A.A., J.-B.R.), Faculty of Medicine; Goodman Cancer Centre (G.P., S.-H.K., N.S.), Department of Biochemistry, McGill University; Department of Pediatric Neurosurgery (T.B.-C., A.W.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal; Division of Pediatric Neurology (G.A., K.A.M., C.C.P., M.S.), Department of Pediatrics, McGill University, Montreal, Quebec, Canada; Department of Pediatrics (G.A.), Unaizah College of Medicine and Medical Sciences, Qassim University, Saudi Arabia; Department of Neurology and Neurosurgery (K.A.M., F.D., J.H., C.C.P., M.S.), McGill University Health Centre; Department of Pathology (J.K., S.A.), McGill University; Division of Neurosurgery (J.-P.F., J.A., R.W.D.), Department of Pediatric Surgery, McGill University Health Center; McGill University (B.R.); Department of Pathology (C.F.-B.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Quebec, Canada., Accogli A; From the Research Institute of the McGill University Health Centre (E.K., J.S.-O., N.A.-B., L.M., E.B., K.A.M., J.L.-L., J.-B.R., R.W.D., M.S.); Integrated Program in Neuroscience (E.K.), McGill University; Department of Specialized Medicine (A.A.), McGill University Health Centre; Department of Human Genetics (A.A., J.-B.R.), Faculty of Medicine; Goodman Cancer Centre (G.P., S.-H.K., N.S.), Department of Biochemistry, McGill University; Department of Pediatric Neurosurgery (T.B.-C., A.W.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal; Division of Pediatric Neurology (G.A., K.A.M., C.C.P., M.S.), Department of Pediatrics, McGill University, Montreal, Quebec, Canada; Department of Pediatrics (G.A.), Unaizah College of Medicine and Medical Sciences, Qassim University, Saudi Arabia; Department of Neurology and Neurosurgery (K.A.M., F.D., J.H., C.C.P., M.S.), McGill University Health Centre; Department of Pathology (J.K., S.A.), McGill University; Division of Neurosurgery (J.-P.F., J.A., R.W.D.), Department of Pediatric Surgery, McGill University Health Center; McGill University (B.R.); Department of Pathology (C.F.-B.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Quebec, Canada., St-Onge J; From the Research Institute of the McGill University Health Centre (E.K., J.S.-O., N.A.-B., L.M., E.B., K.A.M., J.L.-L., J.-B.R., R.W.D., M.S.); Integrated Program in Neuroscience (E.K.), McGill University; Department of Specialized Medicine (A.A.), McGill University Health Centre; Department of Human Genetics (A.A., J.-B.R.), Faculty of Medicine; Goodman Cancer Centre (G.P., S.-H.K., N.S.), Department of Biochemistry, McGill University; Department of Pediatric Neurosurgery (T.B.-C., A.W.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal; Division of Pediatric Neurology (G.A., K.A.M., C.C.P., M.S.), Department of Pediatrics, McGill University, Montreal, Quebec, Canada; Department of Pediatrics (G.A.), Unaizah College of Medicine and Medical Sciences, Qassim University, Saudi Arabia; Department of Neurology and Neurosurgery (K.A.M., F.D., J.H., C.C.P., M.S.), McGill University Health Centre; Department of Pathology (J.K., S.A.), McGill University; Division of Neurosurgery (J.-P.F., J.A., R.W.D.), Department of Pediatric Surgery, McGill University Health Center; McGill University (B.R.); Department of Pathology (C.F.-B.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Quebec, Canada., Addour-Boudrahem N; From the Research Institute of the McGill University Health Centre (E.K., J.S.-O., N.A.-B., L.M., E.B., K.A.M., J.L.-L., J.-B.R., R.W.D., M.S.); Integrated Program in Neuroscience (E.K.), McGill University; Department of Specialized Medicine (A.A.), McGill University Health Centre; Department of Human Genetics (A.A., J.-B.R.), Faculty of Medicine; Goodman Cancer Centre (G.P., S.-H.K., N.S.), Department of Biochemistry, McGill University; Department of Pediatric Neurosurgery (T.B.-C., A.W.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal; Division of Pediatric Neurology (G.A., K.A.M., C.C.P., M.S.), Department of Pediatrics, McGill University, Montreal, Quebec, Canada; Department of Pediatrics (G.A.), Unaizah College of Medicine and Medical Sciences, Qassim University, Saudi Arabia; Department of Neurology and Neurosurgery (K.A.M., F.D., J.H., C.C.P., M.S.), McGill University Health Centre; Department of Pathology (J.K., S.A.), McGill University; Division of Neurosurgery (J.-P.F., J.A., R.W.D.), Department of Pediatric Surgery, McGill University Health Center; McGill University (B.R.); Department of Pathology (C.F.-B.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Quebec, Canada., Prakash G; From the Research Institute of the McGill University Health Centre (E.K., J.S.-O., N.A.-B., L.M., E.B., K.A.M., J.L.-L., J.-B.R., R.W.D., M.S.); Integrated Program in Neuroscience (E.K.), McGill University; Department of Specialized Medicine (A.A.), McGill University Health Centre; Department of Human Genetics (A.A., J.-B.R.), Faculty of Medicine; Goodman Cancer Centre (G.P., S.-H.K., N.S.), Department of Biochemistry, McGill University; Department of Pediatric Neurosurgery (T.B.-C., A.W.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal; Division of Pediatric Neurology (G.A., K.A.M., C.C.P., M.S.), Department of Pediatrics, McGill University, Montreal, Quebec, Canada; Department of Pediatrics (G.A.), Unaizah College of Medicine and Medical Sciences, Qassim University, Saudi Arabia; Department of Neurology and Neurosurgery (K.A.M., F.D., J.H., C.C.P., M.S.), McGill University Health Centre; Department of Pathology (J.K., S.A.), McGill University; Division of Neurosurgery (J.-P.F., J.A., R.W.D.), Department of Pediatric Surgery, McGill University Health Center; McGill University (B.R.); Department of Pathology (C.F.-B.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Quebec, Canada., Kim SH; From the Research Institute of the McGill University Health Centre (E.K., J.S.-O., N.A.-B., L.M., E.B., K.A.M., J.L.-L., J.-B.R., R.W.D., M.S.); Integrated Program in Neuroscience (E.K.), McGill University; Department of Specialized Medicine (A.A.), McGill University Health Centre; Department of Human Genetics (A.A., J.-B.R.), Faculty of Medicine; Goodman Cancer Centre (G.P., S.-H.K., N.S.), Department of Biochemistry, McGill University; Department of Pediatric Neurosurgery (T.B.-C., A.W.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal; Division of Pediatric Neurology (G.A., K.A.M., C.C.P., M.S.), Department of Pediatrics, McGill University, Montreal, Quebec, Canada; Department of Pediatrics (G.A.), Unaizah College of Medicine and Medical Sciences, Qassim University, Saudi Arabia; Department of Neurology and Neurosurgery (K.A.M., F.D., J.H., C.C.P., M.S.), McGill University Health Centre; Department of Pathology (J.K., S.A.), McGill University; Division of Neurosurgery (J.-P.F., J.A., R.W.D.), Department of Pediatric Surgery, McGill University Health Center; McGill University (B.R.); Department of Pathology (C.F.-B.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Quebec, Canada., Brunette-Clement T; From the Research Institute of the McGill University Health Centre (E.K., J.S.-O., N.A.-B., L.M., E.B., K.A.M., J.L.-L., J.-B.R., R.W.D., M.S.); Integrated Program in Neuroscience (E.K.), McGill University; Department of Specialized Medicine (A.A.), McGill University Health Centre; Department of Human Genetics (A.A., J.-B.R.), Faculty of Medicine; Goodman Cancer Centre (G.P., S.-H.K., N.S.), Department of Biochemistry, McGill University; Department of Pediatric Neurosurgery (T.B.-C., A.W.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal; Division of Pediatric Neurology (G.A., K.A.M., C.C.P., M.S.), Department of Pediatrics, McGill University, Montreal, Quebec, Canada; Department of Pediatrics (G.A.), Unaizah College of Medicine and Medical Sciences, Qassim University, Saudi Arabia; Department of Neurology and Neurosurgery (K.A.M., F.D., J.H., C.C.P., M.S.), McGill University Health Centre; Department of Pathology (J.K., S.A.), McGill University; Division of Neurosurgery (J.-P.F., J.A., R.W.D.), Department of Pediatric Surgery, McGill University Health Center; McGill University (B.R.); Department of Pathology (C.F.-B.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Quebec, Canada., Alhajaj G; From the Research Institute of the McGill University Health Centre (E.K., J.S.-O., N.A.-B., L.M., E.B., K.A.M., J.L.-L., J.-B.R., R.W.D., M.S.); Integrated Program in Neuroscience (E.K.), McGill University; Department of Specialized Medicine (A.A.), McGill University Health Centre; Department of Human Genetics (A.A., J.-B.R.), Faculty of Medicine; Goodman Cancer Centre (G.P., S.-H.K., N.S.), Department of Biochemistry, McGill University; Department of Pediatric Neurosurgery (T.B.-C., A.W.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal; Division of Pediatric Neurology (G.A., K.A.M., C.C.P., M.S.), Department of Pediatrics, McGill University, Montreal, Quebec, Canada; Department of Pediatrics (G.A.), Unaizah College of Medicine and Medical Sciences, Qassim University, Saudi Arabia; Department of Neurology and Neurosurgery (K.A.M., F.D., J.H., C.C.P., M.S.), McGill University Health Centre; Department of Pathology (J.K., S.A.), McGill University; Division of Neurosurgery (J.-P.F., J.A., R.W.D.), Department of Pediatric Surgery, McGill University Health Center; McGill University (B.R.); Department of Pathology (C.F.-B.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Quebec, Canada., Mougharbel L; From the Research Institute of the McGill University Health Centre (E.K., J.S.-O., N.A.-B., L.M., E.B., K.A.M., J.L.-L., J.-B.R., R.W.D., M.S.); Integrated Program in Neuroscience (E.K.), McGill University; Department of Specialized Medicine (A.A.), McGill University Health Centre; Department of Human Genetics (A.A., J.-B.R.), Faculty of Medicine; Goodman Cancer Centre (G.P., S.-H.K., N.S.), Department of Biochemistry, McGill University; Department of Pediatric Neurosurgery (T.B.-C., A.W.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal; Division of Pediatric Neurology (G.A., K.A.M., C.C.P., M.S.), Department of Pediatrics, McGill University, Montreal, Quebec, Canada; Department of Pediatrics (G.A.), Unaizah College of Medicine and Medical Sciences, Qassim University, Saudi Arabia; Department of Neurology and Neurosurgery (K.A.M., F.D., J.H., C.C.P., M.S.), McGill University Health Centre; Department of Pathology (J.K., S.A.), McGill University; Division of Neurosurgery (J.-P.F., J.A., R.W.D.), Department of Pediatric Surgery, McGill University Health Center; McGill University (B.R.); Department of Pathology (C.F.-B.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Quebec, Canada., Bruneau E; From the Research Institute of the McGill University Health Centre (E.K., J.S.-O., N.A.-B., L.M., E.B., K.A.M., J.L.-L., J.-B.R., R.W.D., M.S.); Integrated Program in Neuroscience (E.K.), McGill University; Department of Specialized Medicine (A.A.), McGill University Health Centre; Department of Human Genetics (A.A., J.-B.R.), Faculty of Medicine; Goodman Cancer Centre (G.P., S.-H.K., N.S.), Department of Biochemistry, McGill University; Department of Pediatric Neurosurgery (T.B.-C., A.W.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal; Division of Pediatric Neurology (G.A., K.A.M., C.C.P., M.S.), Department of Pediatrics, McGill University, Montreal, Quebec, Canada; Department of Pediatrics (G.A.), Unaizah College of Medicine and Medical Sciences, Qassim University, Saudi Arabia; Department of Neurology and Neurosurgery (K.A.M., F.D., J.H., C.C.P., M.S.), McGill University Health Centre; Department of Pathology (J.K., S.A.), McGill University; Division of Neurosurgery (J.-P.F., J.A., R.W.D.), Department of Pediatric Surgery, McGill University Health Center; McGill University (B.R.); Department of Pathology (C.F.-B.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Quebec, Canada., Myers KA; From the Research Institute of the McGill University Health Centre (E.K., J.S.-O., N.A.-B., L.M., E.B., K.A.M., J.L.-L., J.-B.R., R.W.D., M.S.); Integrated Program in Neuroscience (E.K.), McGill University; Department of Specialized Medicine (A.A.), McGill University Health Centre; Department of Human Genetics (A.A., J.-B.R.), Faculty of Medicine; Goodman Cancer Centre (G.P., S.-H.K., N.S.), Department of Biochemistry, McGill University; Department of Pediatric Neurosurgery (T.B.-C., A.W.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal; Division of Pediatric Neurology (G.A., K.A.M., C.C.P., M.S.), Department of Pediatrics, McGill University, Montreal, Quebec, Canada; Department of Pediatrics (G.A.), Unaizah College of Medicine and Medical Sciences, Qassim University, Saudi Arabia; Department of Neurology and Neurosurgery (K.A.M., F.D., J.H., C.C.P., M.S.), McGill University Health Centre; Department of Pathology (J.K., S.A.), McGill University; Division of Neurosurgery (J.-P.F., J.A., R.W.D.), Department of Pediatric Surgery, McGill University Health Center; McGill University (B.R.); Department of Pathology (C.F.-B.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Quebec, Canada., Dubeau F; From the Research Institute of the McGill University Health Centre (E.K., J.S.-O., N.A.-B., L.M., E.B., K.A.M., J.L.-L., J.-B.R., R.W.D., M.S.); Integrated Program in Neuroscience (E.K.), McGill University; Department of Specialized Medicine (A.A.), McGill University Health Centre; Department of Human Genetics (A.A., J.-B.R.), Faculty of Medicine; Goodman Cancer Centre (G.P., S.-H.K., N.S.), Department of Biochemistry, McGill University; Department of Pediatric Neurosurgery (T.B.-C., A.W.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal; Division of Pediatric Neurology (G.A., K.A.M., C.C.P., M.S.), Department of Pediatrics, McGill University, Montreal, Quebec, Canada; Department of Pediatrics (G.A.), Unaizah College of Medicine and Medical Sciences, Qassim University, Saudi Arabia; Department of Neurology and Neurosurgery (K.A.M., F.D., J.H., C.C.P., M.S.), McGill University Health Centre; Department of Pathology (J.K., S.A.), McGill University; Division of Neurosurgery (J.-P.F., J.A., R.W.D.), Department of Pediatric Surgery, McGill University Health Center; McGill University (B.R.); Department of Pathology (C.F.-B.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Quebec, Canada., Karamchandani J; From the Research Institute of the McGill University Health Centre (E.K., J.S.-O., N.A.-B., L.M., E.B., K.A.M., J.L.-L., J.-B.R., R.W.D., M.S.); Integrated Program in Neuroscience (E.K.), McGill University; Department of Specialized Medicine (A.A.), McGill University Health Centre; Department of Human Genetics (A.A., J.-B.R.), Faculty of Medicine; Goodman Cancer Centre (G.P., S.-H.K., N.S.), Department of Biochemistry, McGill University; Department of Pediatric Neurosurgery (T.B.-C., A.W.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal; Division of Pediatric Neurology (G.A., K.A.M., C.C.P., M.S.), Department of Pediatrics, McGill University, Montreal, Quebec, Canada; Department of Pediatrics (G.A.), Unaizah College of Medicine and Medical Sciences, Qassim University, Saudi Arabia; Department of Neurology and Neurosurgery (K.A.M., F.D., J.H., C.C.P., M.S.), McGill University Health Centre; Department of Pathology (J.K., S.A.), McGill University; Division of Neurosurgery (J.-P.F., J.A., R.W.D.), Department of Pediatric Surgery, McGill University Health Center; McGill University (B.R.); Department of Pathology (C.F.-B.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Quebec, Canada., Farmer JP; From the Research Institute of the McGill University Health Centre (E.K., J.S.-O., N.A.-B., L.M., E.B., K.A.M., J.L.-L., J.-B.R., R.W.D., M.S.); Integrated Program in Neuroscience (E.K.), McGill University; Department of Specialized Medicine (A.A.), McGill University Health Centre; Department of Human Genetics (A.A., J.-B.R.), Faculty of Medicine; Goodman Cancer Centre (G.P., S.-H.K., N.S.), Department of Biochemistry, McGill University; Department of Pediatric Neurosurgery (T.B.-C., A.W.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal; Division of Pediatric Neurology (G.A., K.A.M., C.C.P., M.S.), Department of Pediatrics, McGill University, Montreal, Quebec, Canada; Department of Pediatrics (G.A.), Unaizah College of Medicine and Medical Sciences, Qassim University, Saudi Arabia; Department of Neurology and Neurosurgery (K.A.M., F.D., J.H., C.C.P., M.S.), McGill University Health Centre; Department of Pathology (J.K., S.A.), McGill University; Division of Neurosurgery (J.-P.F., J.A., R.W.D.), Department of Pediatric Surgery, McGill University Health Center; McGill University (B.R.); Department of Pathology (C.F.-B.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Quebec, Canada., Atkinson J; From the Research Institute of the McGill University Health Centre (E.K., J.S.-O., N.A.-B., L.M., E.B., K.A.M., J.L.-L., J.-B.R., R.W.D., M.S.); Integrated Program in Neuroscience (E.K.), McGill University; Department of Specialized Medicine (A.A.), McGill University Health Centre; Department of Human Genetics (A.A., J.-B.R.), Faculty of Medicine; Goodman Cancer Centre (G.P., S.-H.K., N.S.), Department of Biochemistry, McGill University; Department of Pediatric Neurosurgery (T.B.-C., A.W.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal; Division of Pediatric Neurology (G.A., K.A.M., C.C.P., M.S.), Department of Pediatrics, McGill University, Montreal, Quebec, Canada; Department of Pediatrics (G.A.), Unaizah College of Medicine and Medical Sciences, Qassim University, Saudi Arabia; Department of Neurology and Neurosurgery (K.A.M., F.D., J.H., C.C.P., M.S.), McGill University Health Centre; Department of Pathology (J.K., S.A.), McGill University; Division of Neurosurgery (J.-P.F., J.A., R.W.D.), Department of Pediatric Surgery, McGill University Health Center; McGill University (B.R.); Department of Pathology (C.F.-B.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Quebec, Canada., Hall J; From the Research Institute of the McGill University Health Centre (E.K., J.S.-O., N.A.-B., L.M., E.B., K.A.M., J.L.-L., J.-B.R., R.W.D., M.S.); Integrated Program in Neuroscience (E.K.), McGill University; Department of Specialized Medicine (A.A.), McGill University Health Centre; Department of Human Genetics (A.A., J.-B.R.), Faculty of Medicine; Goodman Cancer Centre (G.P., S.-H.K., N.S.), Department of Biochemistry, McGill University; Department of Pediatric Neurosurgery (T.B.-C., A.W.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal; Division of Pediatric Neurology (G.A., K.A.M., C.C.P., M.S.), Department of Pediatrics, McGill University, Montreal, Quebec, Canada; Department of Pediatrics (G.A.), Unaizah College of Medicine and Medical Sciences, Qassim University, Saudi Arabia; Department of Neurology and Neurosurgery (K.A.M., F.D., J.H., C.C.P., M.S.), McGill University Health Centre; Department of Pathology (J.K., S.A.), McGill University; Division of Neurosurgery (J.-P.F., J.A., R.W.D.), Department of Pediatric Surgery, McGill University Health Center; McGill University (B.R.); Department of Pathology (C.F.-B.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Quebec, Canada., Chantal Poulin C; From the Research Institute of the McGill University Health Centre (E.K., J.S.-O., N.A.-B., L.M., E.B., K.A.M., J.L.-L., J.-B.R., R.W.D., M.S.); Integrated Program in Neuroscience (E.K.), McGill University; Department of Specialized Medicine (A.A.), McGill University Health Centre; Department of Human Genetics (A.A., J.-B.R.), Faculty of Medicine; Goodman Cancer Centre (G.P., S.-H.K., N.S.), Department of Biochemistry, McGill University; Department of Pediatric Neurosurgery (T.B.-C., A.W.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal; Division of Pediatric Neurology (G.A., K.A.M., C.C.P., M.S.), Department of Pediatrics, McGill University, Montreal, Quebec, Canada; Department of Pediatrics (G.A.), Unaizah College of Medicine and Medical Sciences, Qassim University, Saudi Arabia; Department of Neurology and Neurosurgery (K.A.M., F.D., J.H., C.C.P., M.S.), McGill University Health Centre; Department of Pathology (J.K., S.A.), McGill University; Division of Neurosurgery (J.-P.F., J.A., R.W.D.), Department of Pediatric Surgery, McGill University Health Center; McGill University (B.R.); Department of Pathology (C.F.-B.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Quebec, Canada., Rosenblatt B; From the Research Institute of the McGill University Health Centre (E.K., J.S.-O., N.A.-B., L.M., E.B., K.A.M., J.L.-L., J.-B.R., R.W.D., M.S.); Integrated Program in Neuroscience (E.K.), McGill University; Department of Specialized Medicine (A.A.), McGill University Health Centre; Department of Human Genetics (A.A., J.-B.R.), Faculty of Medicine; Goodman Cancer Centre (G.P., S.-H.K., N.S.), Department of Biochemistry, McGill University; Department of Pediatric Neurosurgery (T.B.-C., A.W.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal; Division of Pediatric Neurology (G.A., K.A.M., C.C.P., M.S.), Department of Pediatrics, McGill University, Montreal, Quebec, Canada; Department of Pediatrics (G.A.), Unaizah College of Medicine and Medical Sciences, Qassim University, Saudi Arabia; Department of Neurology and Neurosurgery (K.A.M., F.D., J.H., C.C.P., M.S.), McGill University Health Centre; Department of Pathology (J.K., S.A.), McGill University; Division of Neurosurgery (J.-P.F., J.A., R.W.D.), Department of Pediatric Surgery, McGill University Health Center; McGill University (B.R.); Department of Pathology (C.F.-B.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Quebec, Canada., Lafond-Lapalme J; From the Research Institute of the McGill University Health Centre (E.K., J.S.-O., N.A.-B., L.M., E.B., K.A.M., J.L.-L., J.-B.R., R.W.D., M.S.); Integrated Program in Neuroscience (E.K.), McGill University; Department of Specialized Medicine (A.A.), McGill University Health Centre; Department of Human Genetics (A.A., J.-B.R.), Faculty of Medicine; Goodman Cancer Centre (G.P., S.-H.K., N.S.), Department of Biochemistry, McGill University; Department of Pediatric Neurosurgery (T.B.-C., A.W.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal; Division of Pediatric Neurology (G.A., K.A.M., C.C.P., M.S.), Department of Pediatrics, McGill University, Montreal, Quebec, Canada; Department of Pediatrics (G.A.), Unaizah College of Medicine and Medical Sciences, Qassim University, Saudi Arabia; Department of Neurology and Neurosurgery (K.A.M., F.D., J.H., C.C.P., M.S.), McGill University Health Centre; Department of Pathology (J.K., S.A.), McGill University; Division of Neurosurgery (J.-P.F., J.A., R.W.D.), Department of Pediatric Surgery, McGill University Health Center; McGill University (B.R.); Department of Pathology (C.F.-B.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Quebec, Canada., Weil A; From the Research Institute of the McGill University Health Centre (E.K., J.S.-O., N.A.-B., L.M., E.B., K.A.M., J.L.-L., J.-B.R., R.W.D., M.S.); Integrated Program in Neuroscience (E.K.), McGill University; Department of Specialized Medicine (A.A.), McGill University Health Centre; Department of Human Genetics (A.A., J.-B.R.), Faculty of Medicine; Goodman Cancer Centre (G.P., S.-H.K., N.S.), Department of Biochemistry, McGill University; Department of Pediatric Neurosurgery (T.B.-C., A.W.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal; Division of Pediatric Neurology (G.A., K.A.M., C.C.P., M.S.), Department of Pediatrics, McGill University, Montreal, Quebec, Canada; Department of Pediatrics (G.A.), Unaizah College of Medicine and Medical Sciences, Qassim University, Saudi Arabia; Department of Neurology and Neurosurgery (K.A.M., F.D., J.H., C.C.P., M.S.), McGill University Health Centre; Department of Pathology (J.K., S.A.), McGill University; Division of Neurosurgery (J.-P.F., J.A., R.W.D.), Department of Pediatric Surgery, McGill University Health Center; McGill University (B.R.); Department of Pathology (C.F.-B.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Quebec, Canada., Fallet-Bianco C; From the Research Institute of the McGill University Health Centre (E.K., J.S.-O., N.A.-B., L.M., E.B., K.A.M., J.L.-L., J.-B.R., R.W.D., M.S.); Integrated Program in Neuroscience (E.K.), McGill University; Department of Specialized Medicine (A.A.), McGill University Health Centre; Department of Human Genetics (A.A., J.-B.R.), Faculty of Medicine; Goodman Cancer Centre (G.P., S.-H.K., N.S.), Department of Biochemistry, McGill University; Department of Pediatric Neurosurgery (T.B.-C., A.W.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal; Division of Pediatric Neurology (G.A., K.A.M., C.C.P., M.S.), Department of Pediatrics, McGill University, Montreal, Quebec, Canada; Department of Pediatrics (G.A.), Unaizah College of Medicine and Medical Sciences, Qassim University, Saudi Arabia; Department of Neurology and Neurosurgery (K.A.M., F.D., J.H., C.C.P., M.S.), McGill University Health Centre; Department of Pathology (J.K., S.A.), McGill University; Division of Neurosurgery (J.-P.F., J.A., R.W.D.), Department of Pediatric Surgery, McGill University Health Center; McGill University (B.R.); Department of Pathology (C.F.-B.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Quebec, Canada., Albrecht S; From the Research Institute of the McGill University Health Centre (E.K., J.S.-O., N.A.-B., L.M., E.B., K.A.M., J.L.-L., J.-B.R., R.W.D., M.S.); Integrated Program in Neuroscience (E.K.), McGill University; Department of Specialized Medicine (A.A.), McGill University Health Centre; Department of Human Genetics (A.A., J.-B.R.), Faculty of Medicine; Goodman Cancer Centre (G.P., S.-H.K., N.S.), Department of Biochemistry, McGill University; Department of Pediatric Neurosurgery (T.B.-C., A.W.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal; Division of Pediatric Neurology (G.A., K.A.M., C.C.P., M.S.), Department of Pediatrics, McGill University, Montreal, Quebec, Canada; Department of Pediatrics (G.A.), Unaizah College of Medicine and Medical Sciences, Qassim University, Saudi Arabia; Department of Neurology and Neurosurgery (K.A.M., F.D., J.H., C.C.P., M.S.), McGill University Health Centre; Department of Pathology (J.K., S.A.), McGill University; Division of Neurosurgery (J.-P.F., J.A., R.W.D.), Department of Pediatric Surgery, McGill University Health Center; McGill University (B.R.); Department of Pathology (C.F.-B.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Quebec, Canada., Sonenberg N; From the Research Institute of the McGill University Health Centre (E.K., J.S.-O., N.A.-B., L.M., E.B., K.A.M., J.L.-L., J.-B.R., R.W.D., M.S.); Integrated Program in Neuroscience (E.K.), McGill University; Department of Specialized Medicine (A.A.), McGill University Health Centre; Department of Human Genetics (A.A., J.-B.R.), Faculty of Medicine; Goodman Cancer Centre (G.P., S.-H.K., N.S.), Department of Biochemistry, McGill University; Department of Pediatric Neurosurgery (T.B.-C., A.W.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal; Division of Pediatric Neurology (G.A., K.A.M., C.C.P., M.S.), Department of Pediatrics, McGill University, Montreal, Quebec, Canada; Department of Pediatrics (G.A.), Unaizah College of Medicine and Medical Sciences, Qassim University, Saudi Arabia; Department of Neurology and Neurosurgery (K.A.M., F.D., J.H., C.C.P., M.S.), McGill University Health Centre; Department of Pathology (J.K., S.A.), McGill University; Division of Neurosurgery (J.-P.F., J.A., R.W.D.), Department of Pediatric Surgery, McGill University Health Center; McGill University (B.R.); Department of Pathology (C.F.-B.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Quebec, Canada., Riviere JB; From the Research Institute of the McGill University Health Centre (E.K., J.S.-O., N.A.-B., L.M., E.B., K.A.M., J.L.-L., J.-B.R., R.W.D., M.S.); Integrated Program in Neuroscience (E.K.), McGill University; Department of Specialized Medicine (A.A.), McGill University Health Centre; Department of Human Genetics (A.A., J.-B.R.), Faculty of Medicine; Goodman Cancer Centre (G.P., S.-H.K., N.S.), Department of Biochemistry, McGill University; Department of Pediatric Neurosurgery (T.B.-C., A.W.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal; Division of Pediatric Neurology (G.A., K.A.M., C.C.P., M.S.), Department of Pediatrics, McGill University, Montreal, Quebec, Canada; Department of Pediatrics (G.A.), Unaizah College of Medicine and Medical Sciences, Qassim University, Saudi Arabia; Department of Neurology and Neurosurgery (K.A.M., F.D., J.H., C.C.P., M.S.), McGill University Health Centre; Department of Pathology (J.K., S.A.), McGill University; Division of Neurosurgery (J.-P.F., J.A., R.W.D.), Department of Pediatric Surgery, McGill University Health Center; McGill University (B.R.); Department of Pathology (C.F.-B.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Quebec, Canada., Dudley RW; From the Research Institute of the McGill University Health Centre (E.K., J.S.-O., N.A.-B., L.M., E.B., K.A.M., J.L.-L., J.-B.R., R.W.D., M.S.); Integrated Program in Neuroscience (E.K.), McGill University; Department of Specialized Medicine (A.A.), McGill University Health Centre; Department of Human Genetics (A.A., J.-B.R.), Faculty of Medicine; Goodman Cancer Centre (G.P., S.-H.K., N.S.), Department of Biochemistry, McGill University; Department of Pediatric Neurosurgery (T.B.-C., A.W.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal; Division of Pediatric Neurology (G.A., K.A.M., C.C.P., M.S.), Department of Pediatrics, McGill University, Montreal, Quebec, Canada; Department of Pediatrics (G.A.), Unaizah College of Medicine and Medical Sciences, Qassim University, Saudi Arabia; Department of Neurology and Neurosurgery (K.A.M., F.D., J.H., C.C.P., M.S.), McGill University Health Centre; Department of Pathology (J.K., S.A.), McGill University; Division of Neurosurgery (J.-P.F., J.A., R.W.D.), Department of Pediatric Surgery, McGill University Health Center; McGill University (B.R.); Department of Pathology (C.F.-B.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Quebec, Canada., Srour M; From the Research Institute of the McGill University Health Centre (E.K., J.S.-O., N.A.-B., L.M., E.B., K.A.M., J.L.-L., J.-B.R., R.W.D., M.S.); Integrated Program in Neuroscience (E.K.), McGill University; Department of Specialized Medicine (A.A.), McGill University Health Centre; Department of Human Genetics (A.A., J.-B.R.), Faculty of Medicine; Goodman Cancer Centre (G.P., S.-H.K., N.S.), Department of Biochemistry, McGill University; Department of Pediatric Neurosurgery (T.B.-C., A.W.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal; Division of Pediatric Neurology (G.A., K.A.M., C.C.P., M.S.), Department of Pediatrics, McGill University, Montreal, Quebec, Canada; Department of Pediatrics (G.A.), Unaizah College of Medicine and Medical Sciences, Qassim University, Saudi Arabia; Department of Neurology and Neurosurgery (K.A.M., F.D., J.H., C.C.P., M.S.), McGill University Health Centre; Department of Pathology (J.K., S.A.), McGill University; Division of Neurosurgery (J.-P.F., J.A., R.W.D.), Department of Pediatric Surgery, McGill University Health Center; McGill University (B.R.); Department of Pathology (C.F.-B.), Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Quebec, Canada.

Publikováno v: Neurology. Genetics [Neurol Genet] 2023 Oct 26; Vol. 9 (6), pp. e200103. Date of Electronic Publication: 2023 Oct 26 (Print Publication: 2023).

Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): Report of 16 fetal cases

Autor: Bessières-Grattagliano, B., Foliguet, B., Devisme, L., Loeuillet, L., Marcorelles, P., Bonnière, M., Laquerrière, A., Fallet-Bianco, C., Martinovic, J., Zrelli, S., Leticee, N., Cayol, V., Etchevers, H.C., Vekemans, M., Attie-Bitach, T., Encha-Razavi, F.

Publikováno v: In European Journal of Medical Genetics 2009 52(6):386-392

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.

Autor: Laquerriere A; Normandie Univ, UNIROUEN, INSERM U1245; Rouen University Hospital, Department of Pathology, Normandy Centre for Genomic and Personalized Medicine, Rouen, France., Jaber D; Institut National de la Santé et de la Recherche Médicale (Inserm), UMR-1195, Université Paris Saclay, Le Kremlin-Bicetre, France., Abiusi E; Institut National de la Santé et de la Recherche Médicale (Inserm), UMR-1195, Université Paris Saclay, Le Kremlin-Bicetre, France.; Fondazione Policlinico Universitario A. Gemelli Istituto di Ricovero e Cura a Carattere Scientifico and Sezione di Medicina Genomica, Dipartimento di Scienze della Vita e Sanità Pubblica, Università Cattolica del Sacro Cuore, Rome, Italy., Maluenda J; Institut National de la Santé et de la Recherche Médicale (Inserm), UMR-1195, Université Paris Saclay, Le Kremlin-Bicetre, France., Mejlachowicz D; Institut National de la Santé et de la Recherche Médicale (Inserm), UMR-1195, Université Paris Saclay, Le Kremlin-Bicetre, France., Vivanti A; Institut National de la Santé et de la Recherche Médicale (Inserm), UMR-1195, Université Paris Saclay, Le Kremlin-Bicetre, France., Dieterich K; Univ. Grenoble Alpes, Inserm, U1209, CHU Grenoble Alpes, Grenoble, France., Stoeva R; Institut National de la Santé et de la Recherche Médicale (Inserm), UMR-1195, Université Paris Saclay, Le Kremlin-Bicetre, France.; Department of Medical Genetics, Le Mans Hospital, Le Mans, France., Quevarec L; Institut National de la Santé et de la Recherche Médicale (Inserm), UMR-1195, Université Paris Saclay, Le Kremlin-Bicetre, France., Nolent F; Institut National de la Santé et de la Recherche Médicale (Inserm), UMR-1195, Université Paris Saclay, Le Kremlin-Bicetre, France., Biancalana V; Laboratoire Diagnostic Génétique, CHRU, Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U964, CNRS UMR 7104, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Illkirch, France., Latour P; Centre de Biologie Est, Hospices Civils de Lyon, Bron, France., Sternberg D; Service de Biochimie Métabolique et Centre de Génétique, APHP. Sorbonne Université, GH Pitié-Salpêtrière; Centre of Research in Myology, Sorbonne University, UMRS 974, Paris, France., Capri Y; Département de Génétique, Assistance publique-Hopitaux de Paris (AP-HP), Hopital Robert Debré, Paris, France., Verloes A; Département de Génétique, Assistance publique-Hopitaux de Paris (AP-HP), Hopital Robert Debré, Paris, France., Bessieres B; Unité d'Embryofoetopathologie, Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, APHP, Paris, France., Loeuillet L; Unité d'Embryofoetopathologie, Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, APHP, Paris, France., Attie-Bitach T; Unité d'Embryofoetopathologie, Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, APHP, Paris, France., Martinovic J; Institut National de la Santé et de la Recherche Médicale (Inserm), UMR-1195, Université Paris Saclay, Le Kremlin-Bicetre, France.; Unité d'Embryofoetopathologie, Hôpital Antoine Béclère, APHP, Clamart, France., Blesson S; Service de Génétique, Unité de Génétique Clinique, CHRU de Tours, Hôpital Bretonneau, Tours, France., Petit F; Service de Génétique Clinique Guy Fontaine, CHU Lille, Lille, France., Beneteau C; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes; Institut du Thorax, INSERM, CNRS, Université de Nantes, Nantes, France., Whalen S; UF de Génétique clinique et Centre de Référence Maladies Rares des Anomalies du Développement et Syndromes Malformatifs, APHP. Sorbonne Université, Hôpital Armand Trousseau, Paris, France., Marguet F; Normandie Univ, UNIROUEN, INSERM U1245; Rouen University Hospital, Department of Pathology, Normandy Centre for Genomic and Personalized Medicine, Rouen, France., Bouligand J; Laboratoire de Génétique moléculaire, Pharmacogénétique et Hormonologie, Hôpital Bicêtre, APHP Université Paris Saclay, Le Kremlin-Bicêtre; Inserm UMR_S 1185, Faculté de médecine Paris Saclay, Université Paris Saclay, Le Kremlin-Bicêtre, France., Héron D; Département de Génétique, APHP Sorbonne Université, Hôpital Pitié-Salpêtrière et Trousseau, PARIS, France., Viot G; Unité de Génétique, Clinique de la Muette, Paris, France., Amiel J; Service de Génétique Clinique, Centre de référence pour les maladies osseuses constitutionnelles APHP, Hôpital Necker-Enfants Malades; Université de Paris, UMR1163, INSERM, Institut Imagine, Paris, France., Amram D; Unité de Génétique Clinique, Centre Hospitalier Intercommunal de Créteil, Créteil, France., Bellesme C; Department of Pediatric Neurology, APHP-Bicêtre Hospital, Le Kremlin-Bicêtre, France., Bucourt M; Service d'Histologie, Embryologie, et Cytogénétique, Hôpital Jean Verdier, APHP, Bondy, France., Faivre L; Centre de Génétique et Centre de référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon; UMR-Inserm 1231 GAD team, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, Dijon, France., Jouk PS; Univ. Grenoble Alpes, Inserm, U1209, CHU Grenoble Alpes, Grenoble, France., Khung S; Unité Fonctionnelle de Fœtopathologie, Hôpital Universitaire Robert Debré; Inserm UMR 1141, Paris, France., Sigaudy S; Département de Génétique Médicale, Hôpital Timone Enfant, Marseille, France., Delezoide AL; Unité Fonctionnelle de Fœtopathologie, Hôpital Universitaire Robert Debré; Inserm UMR 1141, Paris, France., Goldenberg A; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France., Jacquemont ML; UF de Génétique Médicale, CHU la Réunion, site GHSR, Ile de La Réunion, Saint-Pierre, France., Lambert L; Service Génétique Clinique, CHRU Nancy, Nancy, France., Layet V; Consultations de Génétique, Groupe Hospitalier du Havre, Le Havre, France., Lyonnet S; Imagine Institute, INSERM UMR 1163, Université de Paris; Fédération de Génétique Médicale, Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, Paris, France., Munnich A; Imagine Institute, INSERM UMR 1163, Université de Paris; Fédération de Génétique Médicale, Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, Paris, France., Van Maldergem L; Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France., Piard J; Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France., Guimiot F; Unité Fonctionnelle de Fœtopathologie, Hôpital Universitaire Robert Debré; Inserm UMR 1141, Paris, France., Landrieu P; Department of Pediatric Neurology, APHP-Bicêtre Hospital, Le Kremlin-Bicêtre, France., Letard P; Service d'Histologie, Embryologie, et Cytogénétique, Hôpital Jean Verdier, APHP, Bondy, France., Pelluard F; UMR U1053, INSERM et Université de Bordeaux; Unité de fœtopathologie, Service de pathologie, CHU de Bordeaux, Bordeaux, France., Perrin L; Département de Génétique, Assistance publique-Hopitaux de Paris (AP-HP), Hopital Robert Debré, Paris, France., Saint-Frison MH; Unité Fonctionnelle de Fœtopathologie, Hôpital Universitaire Robert Debré; Inserm UMR 1141, Paris, France., Topaloglu H; Yeditepe University Deparment of Pediatrics, Istanbul, Turkey., Trestard L; Service de Pédiatrie, Hôpital du Belvédère, Rouen, France., Vincent-Delorme C; Service de Génétique Clinique Guy Fontaine, CHU Lille, Lille, France., Amthor H; Neuromuscular Reference Centre, Pediatric Department, University Hospital Raymond Poincaré, Garches, France., Barnerias C; Service de Neuropédiatrie, CR Neuromusculaire Necker, Hôpital Necker- Enfants Malades, Paris, France., Benachi A; Institut National de la Santé et de la Recherche Médicale (Inserm), UMR-1195, Université Paris Saclay, Le Kremlin-Bicetre, France.; Service de Gynécologie-Obstétrique, Hôpital Antoine Béclère, AP-HP, Clamart, France., Bieth E; Service de Génétique Médicale, Hopital Purpan, Toulouse, France., Boucher E; Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France., Cormier-Daire V; Service de Génétique Clinique, Centre de référence pour les maladies osseuses constitutionnelles APHP, Hôpital Necker-Enfants Malades; Université de Paris, UMR1163, INSERM, Institut Imagine, Paris, France., Delahaye-Duriez A; Service d'Histologie, Embryologie, et Cytogénétique, Hôpital Jean Verdier, APHP, Bondy, France.; Université de Paris, NeuroDiderot, Inserm, Paris, France., Desguerre I; Service de Neuropédiatrie, CR Neuromusculaire Necker, Hôpital Necker- Enfants Malades, Paris, France., Eymard B; Sorbonne Université, GH Pitié-Salpêtrière, Paris, France., Francannet C; Service de génétique médicale et centre de référence des anomalies du développement et des déficits intellectuels rares, CHU de Clermont-Ferrand, Clermont-Ferrand, France., Grotto S; Maternité Port-Royal, AP-HP, Hôpital Cochin, Paris, France., Lacombe D; Service de Génétique Médicale, CHU Bordeaux, Hopital Pellegrin, Bordeaux, France., Laffargue F; Service de génétique médicale et centre de référence des anomalies du développement et des déficits intellectuels rares, CHU de Clermont-Ferrand, Clermont-Ferrand, France., Legendre M; Service de Génétique Médicale, CHU Bordeaux, Hopital Pellegrin, Bordeaux, France., Martin-Coignard D; Department of Medical Genetics, Le Mans Hospital, Le Mans, France., Mégarbané A; Department of Human Genetics, Gilbert and Rose-Marie Ghagoury School of Medicine, Lebanese American University, Byblos, Lebanon., Mercier S; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes; Institut du Thorax, INSERM, CNRS, Université de Nantes, Nantes, France., Nizon M; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes; Institut du Thorax, INSERM, CNRS, Université de Nantes, Nantes, France., Rigonnot L; Service de gynécologie obstétrique, Centre Hospitalier Sud Francilien, Corbeil Essonnes, France., Prieur F; Service de Génétique Clinique, CHU de Saint Etienne, Saint-Etienne, France., Quélin C; Service de Génétique Clinique, CLAD Ouest, CHU Rennes, F-35033 RENNES, France., Ranjatoelina-Randrianaivo H; UF de Génétique Médicale, CHU la Réunion, site GHSR, Ile de La Réunion, Saint-Pierre, France., Resta N; Department of Biomedical Sciences and Human Oncology (DIMO), Medical Genetics, University of Bari 'Aldo Moro', Bari, Italy., Toutain A; Service de Génétique, Centre Hospitalier Universitaire de Tours; UMR 1253, iBrain, Université de Tours, Inserm, Tours, France., Verhelst H; Department of Pediatrics, Division of Pediatric Neurology, Ghent University Hospital, Ghent, Belgium., Vincent M; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes; Institut du Thorax, INSERM, CNRS, Université de Nantes, Nantes, France., Colin E; Service de Génétique Médicale, CHU d'Angers, Angers, France., Fallet-Bianco C; Service de Pathologie, CHU Sainte-Justine-Université de Montréal, Montréal, Ontario, Canada., Granier M; Neonatology and Neonatal Intensive Care Unit, Centre Hospitalier Sud Francilien, Corbeil Essonnes, France., Grigorescu R; Unité de Génétique du Développement fœtal, Département de Génétique et Embryologie médicales, CHU Paris Est, Hôpital d'Enfants Armand-Trousseau, Paris, France., Saada J; Service de Gynécologie-Obstétrique, Hôpital Antoine Béclère, AP-HP, Clamart, France., Gonzales M; Unité d'Embryofoetopathologie, Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, APHP, Paris, France., Guiochon-Mantel A; Laboratoire de Génétique moléculaire, Pharmacogénétique et Hormonologie, Hôpital Bicêtre, APHP Université Paris Saclay, Le Kremlin-Bicêtre; Inserm UMR_S 1185, Faculté de médecine Paris Saclay, Université Paris Saclay, Le Kremlin-Bicêtre, France., Bessereau JL; Univ Lyon, Université Claude Bernard Lyon 1, CNRS UMR 5310, INSERM U 1217, Institut NeuroMyoGène, Lyon, France., Tawk M; Institut National de la Santé et de la Recherche Médicale (Inserm), UMR-1195, Université Paris Saclay, Le Kremlin-Bicetre, France., Gut I; CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST); Universitat Pompeu Fabra (UPF), Barcelona, Spain., Gitiaux C; Unité de Neurophysiologie Clinique, Centre de référence des maladies neuromusculaires, Hôpital Necker Enfants Malades, APHP, Université de Paris, Paris, France., Melki J; Institut National de la Santé et de la Recherche Médicale (Inserm), UMR-1195, Université Paris Saclay, Le Kremlin-Bicetre, France judith.melki@inserm.fr.; Unité de Génétique Médicale, Centre de référence des anomalies du développement et syndromes malformatifs d'Île-de-France, APHP, Le Kremlin Bicêtre, France.

Publikováno v: Journal of medical genetics [J Med Genet] 2022 Jun; Vol. 59 (6), pp. 559-567. Date of Electronic Publication: 2021 Apr 05.