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SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Bogaert, Elke; Garde, Aurore; Gautier, Thierry; Rooney, Kathleen; Duffourd, Yannis; LeBlanc, Pontus; van Reempts, Emma; Tran Mau-Them, Frederic; Wentzensen, Ingrid M; Au, Kit Sing; Richardson, Kate; Northrup, Hope; Gatinois, Vincent; Geneviève, David; Louie, Raymond J; Lyons, Michael J; Laulund, Lone Walentin; Brasch-Andersen, Charlotte; Maxel Juul, Trine; El It, Fatima; Marle, Nathalie; Callier, Patrick; Relator, Raissa; Haghshenas, Sadegheh; McConkey, Haley; Kerkhof, Jennifer; Cesario, Claudia; Novelli, Antonio; Brunetti-Pierri, Nicola; Pinelli, Michele; Pennamen, Perrine; Naudion, Sophie; Legendre, Marine; Courdier, Cécile; Trimouille, Aurelien; Fenzy, Martine Doco; Pais, Lynn; Yeung, Alison; Nugent, Kimberly; Roeder, Elizabeth R; Mitani, Tadahiro; Posey, Jennifer E; Calame, Daniel; Yonath, Hagith; Rosenfeld, Jill A; Musante, Luciana; Faletra, Flavio; Montanari, Francesca; Sartor, Giovanna; Vancini, Alessandra.
Affiliation
  • Bogaert E; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, 9000 Ghent, Belgium.
  • Garde A; UMR1231 GAD, Inserm - Université de Bourgogne, Dijon, France; Centre de Référence Maladies Rares "Anomalies du Développement et Syndromes Malformatifs", Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.
  • Gautier T; University Grenoble Alpes, Inserm U1209, CNRS UMR 5309, Institute for Advanced Biosciences (IAB), 38000 Grenoble, France.
  • Rooney K; Department of Pathology and Laboratory Medicine, Western University, London, ON N5A 3K7, Canada; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.
  • Duffourd Y; UMR1231 GAD, Inserm - Université de Bourgogne, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.
  • LeBlanc P; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, 9000 Ghent, Belgium.
  • van Reempts E; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, 9000 Ghent, Belgium.
  • Tran Mau-Them F; UMR1231 GAD, Inserm - Université de Bourgogne, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France.
  • Wentzensen IM; GeneDx, Gaithersburg, MD, USA.
  • Au KS; Division of Medical Genetics, Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston), Houston, TX, USA; Children's Memorial Hermann Hospital, Houston, TX, USA.
  • Richardson K; Division of Medical Genetics, Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston), Houston, TX, USA; Children's Memorial Hermann Hospital, Houston, TX, USA.
  • Northrup H; Division of Medical Genetics, Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston), Houston, TX, USA; Children's Memorial Hermann Hospital, Houston, TX, USA.
  • Gatinois V; Unité de Génétique Chromosomique, CHU Montpellier, Montpellier, France.
  • Geneviève D; Montpellier University, Inserm U1183, Montpellier, France; Reference center for rare disease developmental anomaly malformative syndrome, Department of Medical Genetics, Montpellier Hospital, Montpellier, France.
  • Louie RJ; Greenwood Genetic Center, Greenwood, SC, USA.
  • Lyons MJ; Greenwood Genetic Center, Greenwood, SC, USA.
  • Laulund LW; Department of Paediatrics, Odense University Hospital, Odense, Denmark.
  • Brasch-Andersen C; Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark; Human Genetics, Department of Clinical Research, Health Faculty, University of Southern Denmark, 5000 Odense, Denmark.
  • Maxel Juul T; Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark.
  • El It F; UMR1231 GAD, Inserm - Université de Bourgogne, Dijon, France.
  • Marle N; Laboratoire de Génétique Chromosomique et Moléculaire, Pôle de Biologie, CHU de Dijon, Dijon, France.
  • Callier P; UMR1231 GAD, Inserm - Université de Bourgogne, Dijon, France; Laboratoire de Génétique Chromosomique et Moléculaire, Pôle de Biologie, CHU de Dijon, Dijon, France.
  • Relator R; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.
  • Haghshenas S; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.
  • McConkey H; Department of Pathology and Laboratory Medicine, Western University, London, ON N5A 3K7, Canada; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.
  • Kerkhof J; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.
  • Cesario C; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Novelli A; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Brunetti-Pierri N; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; Department of Translational Medicine, University of Naples Federico II, Naples, Italy.
  • Pinelli M; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; Department of Translational Medicine, University of Naples Federico II, Naples, Italy.
  • Pennamen P; Medical Genetics Department, CHU Bordeaux, Bordeaux, France.
  • Naudion S; Medical Genetics Department, CHU Bordeaux, Bordeaux, France.
  • Legendre M; Medical Genetics Department, CHU Bordeaux, Bordeaux, France.
  • Courdier C; Medical Genetics Department, CHU Bordeaux, Bordeaux, France.
  • Trimouille A; INSERM U1211, Laboratoire MRGM, Bordeaux University, Bordeaux, France; Pathology Department, CHU Bordeaux, Bordeaux, France.
  • Fenzy MD; Service de génétique, CHU de Reims, Reims, France; Service de génétique médicale, CHU de Nantes, Nantes, France; L'institut du thorax, INSERM, CNRS, UNIV Nantes, CHU de Nantes, Nantes, France.
  • Pais L; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Yeung A; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia.
  • Nugent K; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Roeder ER; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Calame D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA.
  • Yonath H; Internal Medicine A, Danek Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Baylor Genetics Laboratories, Houston, TX, USA.
  • Musante L; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
  • Faletra F; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
  • Montanari F; UO Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
  • Sartor G; UO Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
  • Vancini A; Neonatal Intensive Care Unit, Maggiore Hospital, Bologna, Italy.
Am J Hum Genet ; 110(5): 790-808, 2023 05 04.
Article de En | MEDLINE | ID: mdl-37071997
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Troubles du développement neurologique / Déficience intellectuelle Type d'étude: Prognostic_studies / Risk_factors_studies Limites: Child / Female / Humans / Male Langue: En Journal: Am J Hum Genet Année: 2023 Type de document: Article Pays d'affiliation: Belgique Pays de publication: États-Unis d'Amérique
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Troubles du développement neurologique / Déficience intellectuelle Type d'étude: Prognostic_studies / Risk_factors_studies Limites: Child / Female / Humans / Male Langue: En Journal: Am J Hum Genet Année: 2023 Type de document: Article Pays d'affiliation: Belgique Pays de publication: États-Unis d'Amérique