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Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.
Thomas, Quentin; Motta, Marialetizia; Gautier, Thierry; Zaki, Maha S; Ciolfi, Andrea; Paccaud, Julien; Girodon, François; Boespflug-Tanguy, Odile; Besnard, Thomas; Kerkhof, Jennifer; McConkey, Haley; Masson, Aymeric; Denommé-Pichon, Anne-Sophie; Cogné, Benjamin; Trochu, Eva; Vignard, Virginie; El It, Fatima; Rodan, Lance H; Alkhateeb, Mohammad Ayman; Jamra, Rami Abou; Duplomb, Laurence; Tisserant, Emilie; Duffourd, Yannis; Bruel, Ange-Line; Jackson, Adam; Banka, Siddharth; McEntagart, Meriel; Saggar, Anand; Gleeson, Joseph G; Sievert, David; Bae, Hyunwoo; Lee, Beom Hee; Kwon, Kisang; Seo, Go Hun; Lee, Hane; Saeed, Anjum; Anjum, Nadeem; Cheema, Huma; Alawbathani, Salem; Khan, Imran; Pinto-Basto, Jorge; Teoh, Joyce; Wong, Jasmine; Sahari, Umar Bin Mohamad; Houlden, Henry; Zhelcheska, Kristina; Pannetier, Melanie; Awad, Mona A; Lesieur-Sebellin, Marion; Barcia, Giulia.
Afiliación
  • Thomas Q; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France. Electronic address: quentin.thomas@chu-dijon.fr.
  • Motta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
  • Gautier T; University Grenoble Alpes, Inserm, CNRS, Institute for Advanced Biosciences, 38000 Grenoble, France.
  • Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt; Armed Forces College of Medicine, Cairo, Egypt.
  • Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
  • Paccaud J; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France.
  • Girodon F; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Biology Division, Department of Biological Hematology, Dijon Hospital, 21000 Dijon, France.
  • Boespflug-Tanguy O; Université Paris Cité, UMR 1141 NeuroDiderot, Inserm, 75019 Paris, France; Service de Neuropédiatrie, reference center for leukodystrophies, APHP, Hopital Robert Debré, 75019 Paris, France.
  • Besnard T; Service de Génétique Médicale, CHU Nantes, Nantes, France; Université de Nantes, CHU Nantes, CNRS, Inserm, l'Institut du Thorax, 44000 Nantes, France.
  • Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada.
  • McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada.
  • Masson A; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France.
  • Denommé-Pichon AS; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
  • Cogné B; Service de Génétique Médicale, CHU Nantes, Nantes, France; Université de Nantes, CHU Nantes, CNRS, Inserm, l'Institut du Thorax, 44000 Nantes, France.
  • Trochu E; Service de Génétique Médicale, CHU Nantes, Nantes, France.
  • Vignard V; Université de Nantes, CHU Nantes, CNRS, Inserm, l'Institut du Thorax, 44000 Nantes, France.
  • El It F; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France.
  • Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Alkhateeb MA; Women Wellness and Research Center Hamad Medical Corporation, Doha, Qatar.
  • Jamra RA; Institute of Human Genetics, University Medical Center, Leipzig, Germany.
  • Duplomb L; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France.
  • Tisserant E; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France.
  • Duffourd Y; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France.
  • Bruel AL; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
  • Jackson A; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manch
  • Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manch
  • McEntagart M; Medical Genetics, St George's University Hospitals NHS FT, London SW17 0RE, UK.
  • Saggar A; Medical Genetics, St George's University Hospitals NHS FT, London SW17 0RE, UK; The Portland Hospital, 205-209 Great Portland St, London W1W 5AH, UK.
  • Gleeson JG; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, San Diego, La Jolla, CA 92093, USA.
  • Sievert D; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
  • Bae H; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea.
  • Lee BH; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea.
  • Kwon K; 3billion, Inc, Seoul, South Korea.
  • Seo GH; 3billion, Inc, Seoul, South Korea.
  • Lee H; 3billion, Inc, Seoul, South Korea.
  • Saeed A; Children's Hospital and University of Child Health Lahore, Lahore, Pakistan.
  • Anjum N; Children's Hospital and University of Child Health Lahore, Lahore, Pakistan.
  • Cheema H; Children's Hospital and University of Child Health Lahore, Lahore, Pakistan.
  • Alawbathani S; CENTOGENE GmbH, 18055 Rostock, Germany.
  • Khan I; CENTOGENE GmbH, 18055 Rostock, Germany.
  • Pinto-Basto J; CENTOGENE GmbH, 18055 Rostock, Germany.
  • Teoh J; Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore, A(∗)STAR, Singapore, Singapore.
  • Wong J; Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore, A(∗)STAR, Singapore, Singapore.
  • Sahari UBM; Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore, A(∗)STAR, Singapore, Singapore.
  • Houlden H; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Zhelcheska K; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Pannetier M; Service d'Hématologie cellulaire et hémostase bioclinique, CHU Rennes, Rennes, France.
  • Awad MA; Clinical and Chemical Pathology Department, Medical Research and Clinical Studies Institute National Research Centre, Cairo, Egypt.
  • Lesieur-Sebellin M; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfant Malades, AP-HP, Paris, France.
  • Barcia G; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfant Malades, AP-HP, Paris, France.
Am J Hum Genet ; 109(10): 1909-1922, 2022 10 06.
Article en En | MEDLINE | ID: mdl-36044892
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Anomalía de Pelger-Huët / Discapacidad Intelectual / Anomalías Musculoesqueléticas Tipo de estudio: Prognostic_studies Límite: Child / Humans Idioma: En Revista: Am J Hum Genet Año: 2022 Tipo del documento: Article
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Anomalía de Pelger-Huët / Discapacidad Intelectual / Anomalías Musculoesqueléticas Tipo de estudio: Prognostic_studies Límite: Child / Humans Idioma: En Revista: Am J Hum Genet Año: 2022 Tipo del documento: Article