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Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Paul, Maimuna S; Duncan, Anna R; Genetti, Casie A; Pan, Hongling; Jackson, Adam; Grant, Patricia E; Shi, Jiahai; Pinelli, Michele; Brunetti-Pierri, Nicola; Garza-Flores, Alexandra; Shahani, Dave; Saneto, Russell P; Zampino, Giuseppe; Leoni, Chiara; Agolini, Emanuele; Novelli, Antonio; Blümlein, Ulrike; Haack, Tobias B; Heinritz, Wolfram; Matzker, Eva; Alhaddad, Bader; Abou Jamra, Rami; Bartolomaeus, Tobias; AlHamdan, Saber; Carapito, Raphael; Isidor, Bertrand; Bahram, Seiamak; Ritter, Alyssa; Izumi, Kosuke; Shakked, Ben Pode; Barel, Ortal; Ben Zeev, Bruria; Begtrup, Amber; Carere, Deanna Alexis; Mullegama, Sureni V; Palculict, Timothy Blake; Calame, Daniel G; Schwan, Katharina; Aycinena, Alicia R P; Traberg, Rasa; Douzgou, Sofia; Pirt, Harrison; Ismayilova, Naila; Banka, Siddharth; Chao, Hsiao-Tuan; Agrawal, Pankaj B.
Afiliação
  • Paul MS; Department of Pediatrics, Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.
  • Duncan AR; Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; Division of Neonatology and Newborn Medicine, Massachusetts General Hospital for Children, Boston, MA, USA.
  • Genetti CA; Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medic
  • Pan H; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Jackson A; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9WL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Mancheste
  • Grant PE; Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; Department of Radiology, Boston Children's Hospital, Boston, MA, USA.
  • Shi J; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
  • Pinelli M; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; Department of Translational Medicine, University of Naples "Federico II", Naples, Italy.
  • Brunetti-Pierri N; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; Department of Translational Medicine, University of Naples "Federico II", Naples, Italy.
  • Garza-Flores A; Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, TX, USA.
  • Shahani D; Department of Neurology and Epileptology, Cook Children's Hospital, Fort Worth, TX 76104, USA.
  • Saneto RP; Neuroscience Institute, Center for Integrative Brain Research, Departments of Pediatric Neurology and Neurology Seattle Children's Hospital, University of Washington, Seattle, WA, USA.
  • Zampino G; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, Rome, Italy; Catholic University of the Sacred Heart, Faculty of Medicine and Surgery, Rome, Italy.
  • Leoni C; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, Rome, Italy.
  • Agolini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Blümlein U; Department of Pediatrics, Carl-Thiem-Klinikum Cottbus, Cottbus, Germany.
  • Haack TB; Institute of Human Genetics, Technical University of Munich, 81675 Munich, Germany; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, 72076 Tuebingen, Germany.
  • Heinritz W; Praxis für Humangenetik Cottbus, 03048 Cottbus, Germany.
  • Matzker E; Department of Pediatrics, Carl-Thiem-Klinikum Cottbus, Cottbus, Germany.
  • Alhaddad B; Institute of Human Genetics, Technical University of Munich, 81675 Munich, Germany.
  • Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.
  • Bartolomaeus T; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.
  • AlHamdan S; Al Qrayya, Syria.
  • Carapito R; Laboratoire 'ImmunoRhumatologie Moléculaire, Plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), ITI TRANSPLANTEX NG, Université de Strasbourg, 67085 Strasbourg, France; Service d'Immuno
  • Isidor B; Service de Génétique Médicale, Hôpital Hôtel-Dieu, Centre Hospitalier Universitaire de Nantes, Nantes, France.
  • Bahram S; Laboratoire 'ImmunoRhumatologie Moléculaire, Plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), ITI TRANSPLANTEX NG, Université de Strasbourg, 67085 Strasbourg, France; Service d'Immuno
  • Ritter A; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Izumi K; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Shakked BP; Pediatric Neurology Department, The Edmond and Lilly Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Barel O; Pediatric Neurology Department, The Edmond and Lilly Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.
  • Ben Zeev B; Pediatric Neurology Department, The Edmond and Lilly Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Begtrup A; Clinical Genomics Program, GeneDx, Gaithersburg, MD 20877, USA.
  • Carere DA; Clinical Genomics Program, GeneDx, Gaithersburg, MD 20877, USA.
  • Mullegama SV; Clinical Genomics Program, GeneDx, Gaithersburg, MD 20877, USA.
  • Palculict TB; Clinical Genomics Program, GeneDx, Gaithersburg, MD 20877, USA.
  • Calame DG; Section of Pediatric Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Schwan K; Kaiser Permanente, San Francisco, CA, USA.
  • Aycinena ARP; Kaiser Permanente, San Francisco, CA, USA.
  • Traberg R; Department of Genetics and Molecular Medicine, Hospital of Lithuanian University of Health Sciences Kauno klinikos, Kaunas, Lithuania.
  • Douzgou S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9WL, UK; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
  • Pirt H; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9WL, UK.
  • Ismayilova N; Department of Paediatric Neurology, Chelsea and Westminster NHS Foundation Trust, London, UK.
  • Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9WL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Mancheste
  • Chao HT; Department of Pediatrics, Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houst
  • Agrawal PB; Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medic
Am J Hum Genet ; 110(1): 120-145, 2023 01 05.
Article em En | MEDLINE | ID: mdl-36528028
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Drosophila / Epilepsia / Transtornos do Neurodesenvolvimento / Deficiência Intelectual Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Drosophila / Epilepsia / Transtornos do Neurodesenvolvimento / Deficiência Intelectual Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article