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Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Cali, Elisa; Suri, Mohnish; Scala, Marcello; Ferla, Matteo P; Alavi, Shahryar; Faqeih, Eissa Ali; Bijlsma, Emilia K; Wigby, Kristen M; Baralle, Diana; Mehrjardi, Mohammad Y V; Schwab, Jennifer; Platzer, Konrad; Steindl, Katharina; Hashem, Mais; Jones, Marilyn; Niyazov, Dmitriy M; Jacober, Jennifer; Littlejohn, Rebecca Okashah; Weis, Denisa; Zadeh, Neda; Rodan, Lance; Goldenberg, Alice; Lecoquierre, François; Dutra-Clarke, Marina; Horvath, Gabriella; Young, Dana; Orenstein, Naama; Bawazeer, Shahad; Vulto-van Silfhout, Anneke T; Herenger, Yvan; Dehghani, Mohammadreza; Seyedhassani, Seyed Mohammad; Bahreini, Amir; Nasab, Mahya E; Ercan-Sencicek, A Gulhan; Firoozfar, Zahra; Movahedinia, Mojtaba; Efthymiou, Stephanie; Striano, Pasquale; Karimiani, Ehsan Ghayoor; Salpietro, Vincenzo; Taylor, Jenny C; Redman, Melody; Stegmann, Alexander P A; Laner, Andreas; Abdel-Salam, Ghada; Li, Megan; Bengala, Mario; Müller, Amelie Johanna; Digilio, Maria C.
Afiliação
  • Cali E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
  • Suri M; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham, United Kingdom.
  • Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Ferla MP; Genomic Medicine theme, Oxford Biomedical Research Centre, NIHR, Oxford, Oxfordshire, United Kingdom; Wellcome Centre for Human Genetics, Oxford University, Oxford, Oxfordshire, United Kingdom.
  • Alavi S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom; Department of Cell and Molecular Biology and Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran; Palindrome, Isfahan, Iran.
  • Faqeih EA; Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical, City, Riyadh, Saudi Arabia.
  • Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Wigby KM; Division of Medical Genetics, Department of Pediatrics, University of California, and Rady Children's Hospital, San Diego, CA.
  • Baralle D; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom; Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton, United Kingdom.
  • Mehrjardi MYV; Medical Genetics Research Center, Shahid Sadoughi University of Medical Science, Yazd, Iran.
  • Schwab J; Division of Human Genetics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital/Rhode Island Hospital, Providence, RI.
  • Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
  • Steindl K; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
  • Hashem M; Department of Translational Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Jones M; Division of Medical Genetics, Department of Pediatrics, University of California, and Rady Children's Hospital, San Diego, CA.
  • Niyazov DM; Section of Medical Genetics, Department of Pediatrics, Ochsner Health System and University of Queensland, New Orleans, LA.
  • Jacober J; Section of Medical Genetics, Department of Pediatrics, Ochsner Health System and University of Queensland, New Orleans, LA.
  • Littlejohn RO; Department of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, San Antonio, TX.
  • Weis D; Department of Medical Genetics, Kepler University Hospital Med Campus IV, Johannes Kepler University, Linz, Austria.
  • Zadeh N; Children's Hospital of Orange County, Orange, CA; Genetics Center, Orange, California.
  • Rodan L; Department of Neurology, Boston Children's Hospital, Boston, MA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.
  • Goldenberg A; Department of Genetics and Reference Center for Developmental Disorders, Normandie University, UNIROUEN, CHU Rouen, Inserm U1245, FHU G4 Génomique, Rouen, France.
  • Lecoquierre F; Department of Genetics and Reference Center for Developmental Disorders, Normandie University, UNIROUEN, CHU Rouen, Inserm U1245, FHU G4 Génomique, Rouen, France.
  • Dutra-Clarke M; Division of Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA.
  • Horvath G; BC Children's Hospital Research Institute, BC Children's Hospital, Vancouver, British Columbia, Canada; Department of Pediatrics, University of British Columbia, Vancouver, Canada.
  • Young D; Adult Metabolic Diseases Clinic, Vancouver General Hospital, Vancouver, Canada.
  • Orenstein N; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Bawazeer S; Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical, City, Riyadh, Saudi Arabia.
  • Vulto-van Silfhout AT; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Herenger Y; Genetica AG, Zürich, Switzerland.
  • Dehghani M; Medical Genetics Research Center, Shahid Sadoughi University of Medical Science, Yazd, Iran.
  • Seyedhassani SM; Dr. Seyedhassani Medical Genetic Center, Yazd, Iran.
  • Bahreini A; Palindrome, Isfahan, Iran; KaryoGen, Isfahan, Iran; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, PA.
  • Nasab ME; Dr. Seyedhassani Medical Genetic Center, Yazd, Iran.
  • Ercan-Sencicek AG; Department of Neurosurgery, Program on Neurogenetics, Yale School of Medicine, Yale University, New Haven, CT; Masonic Medical Research Institute, Utica, NY.
  • Firoozfar Z; Department of Cell and Molecular Biology and Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran; Palindrome, Isfahan, Iran.
  • Movahedinia M; Children Growth Disorder Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
  • Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.
  • Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Karimiani EG; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran; Molecular and Clinical Sciences Institute, St. George's, University of London, London, United Kingdom; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran.
  • Salpietro V; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy; Pediatric Neurology and Musc
  • Taylor JC; Genomic Medicine theme, Oxford Biomedical Research Centre, NIHR, Oxford, Oxfordshire, United Kingdom; Wellcome Centre for Human Genetics, Oxford University, Oxford, Oxfordshire, United Kingdom.
  • Redman M; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, United Kingdom.
  • Stegmann APA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Laner A; MGZ - Medizinisch Genetisches Zentrum, Munich, Germany.
  • Abdel-Salam G; Human Genetics and Genome Research Division, Department of Clinical Genetics, National Research Centre, Cairo, Egypt.
  • Li M; Invitae, San Francisco, CA.
  • Bengala M; Laboratory of Medical Genetics, Tor Vergata Hospital, Rome, Italy.
  • Müller AJ; Autophagy Laboratory, Department of Molecular Biology, Interfaculty Institute of Cell Biology, Eberhard Karls University Tuebingen, Tuebingen, Germany.
  • Digilio MC; Medical Genetics Department, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Genet Med ; 25(1): 135-142, 2023 01.
Article em En | MEDLINE | ID: mdl-36399134
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Nanismo / Braquidactilia / Transtornos do Neurodesenvolvimento / Deficiência Intelectual / Anormalidades Musculoesqueléticas Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Nanismo / Braquidactilia / Transtornos do Neurodesenvolvimento / Deficiência Intelectual / Anormalidades Musculoesqueléticas Idioma: En Ano de publicação: 2023 Tipo de documento: Article