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Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X.
Leitão, Elsa; Schröder, Christopher; Parenti, Ilaria; Dalle, Carine; Rastetter, Agnès; Kühnel, Theresa; Kuechler, Alma; Kaya, Sabine; Gérard, Bénédicte; Schaefer, Elise; Nava, Caroline; Drouot, Nathalie; Engel, Camille; Piard, Juliette; Duban-Bedu, Bénédicte; Villard, Laurent; Stegmann, Alexander P A; Vanhoutte, Els K; Verdonschot, Job A J; Kaiser, Frank J; Tran Mau-Them, Frédéric; Scala, Marcello; Striano, Pasquale; Frints, Suzanna G M; Argilli, Emanuela; Sherr, Elliott H; Elder, Fikret; Buratti, Julien; Keren, Boris; Mignot, Cyril; Héron, Delphine; Mandel, Jean-Louis; Gecz, Jozef; Kalscheuer, Vera M; Horsthemke, Bernhard; Piton, Amélie; Depienne, Christel.
Affiliation
  • Leitão E; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
  • Schröder C; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
  • Parenti I; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
  • Dalle C; Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, F-75013, Paris, France.
  • Rastetter A; Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, F-75013, Paris, France.
  • Kühnel T; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
  • Kuechler A; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
  • Kaya S; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
  • Gérard B; Unité de Génétique Moléculaire, IGMA, Hôpitaux Universitaire de Strasbourg, Strasbourg, France.
  • Schaefer E; Service de Génétique Médicale, IGMA, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Nava C; Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, F-75013, Paris, France.
  • Drouot N; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, 67400, France.
  • Engel C; Centre National de la Recherche Scientifique, UMR7104, Illkirch, 67400, France.
  • Piard J; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, 67400, France.
  • Duban-Bedu B; Université de Strasbourg, Illkirch, 67400, France.
  • Villard L; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, 67400, France.
  • Stegmann APA; Centre National de la Recherche Scientifique, UMR7104, Illkirch, 67400, France.
  • Vanhoutte EK; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, 67400, France.
  • Verdonschot JAJ; Université de Strasbourg, Illkirch, 67400, France.
  • Kaiser FJ; Centre de Génétique Humaine, CHU Besançon, Besançon, France.
  • Tran Mau-Them F; INSERM UMR1231, Equipe Génétique des Anomalies du Développement, Université de Bourgogne-Franche-Comté, Dijon, France.
  • Scala M; Centre de génétique chromosomique, Hôpital Saint-Vincent de Paul, Lille, France.
  • Striano P; Aix-Marseille University, INSERM, MMG, UMR-S 1251, Faculté de médecine, Marseille, France.
  • Frints SGM; Département de Génétique Médicale, APHM, Hôpital d'Enfants de La Timone, Marseille, France.
  • Argilli E; Department of Human Genetics, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.
  • Sherr EH; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands.
  • Elder F; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands.
  • Buratti J; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands.
  • Keren B; Cardiovascular Research Institute (CARIM), Departments of Cardiology, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Mignot C; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
  • Héron D; INSERM UMR1231, Equipe Génétique des Anomalies du Développement, Université de Bourgogne-Franche-Comté, Dijon, France.
  • Mandel JL; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France.
  • Gecz J; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.
  • Kalscheuer VM; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.
  • Horsthemke B; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.
  • Piton A; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.
  • Depienne C; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands.
Nat Commun ; 13(1): 6570, 2022 11 02.
Article in En | MEDLINE | ID: mdl-36323681
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Autism Spectrum Disorder / Intellectual Disability Type of study: Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Nat Commun Journal subject: BIOLOGIA / CIENCIA Year: 2022 Document type: Article Affiliation country:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Autism Spectrum Disorder / Intellectual Disability Type of study: Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Nat Commun Journal subject: BIOLOGIA / CIENCIA Year: 2022 Document type: Article Affiliation country: