Your browser doesn't support javascript.
loading
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Weerts, Marjolein J A; Lanko, Kristina; Guzmán-Vega, Francisco J; Jackson, Adam; Ramakrishnan, Reshmi; Cardona-Londoño, Kelly J; Peña-Guerra, Karla A; van Bever, Yolande; van Paassen, Barbara W; Kievit, Anneke; van Slegtenhorst, Marjon; Allen, Nicholas M; Kehoe, Caroline M; Robinson, Hannah K; Pang, Lewis; Banu, Selina H; Zaman, Mashaya; Efthymiou, Stephanie; Houlden, Henry; Järvelä, Irma; Lauronen, Leena; Määttä, Tuomo; Schrauwen, Isabelle; Leal, Suzanne M; Ruivenkamp, Claudia A L; Barge-Schaapveld, Daniela Q C M; Peeters-Scholte, Cacha M P C D; Galehdari, Hamid; Mazaheri, Neda; Sisodiya, Sanjay M; Harrison, Victoria; Sun, Angela; Thies, Jenny; Pedroza, Luis Alberto; Lara-Taranchenko, Yana; Chinn, Ivan K; Lupski, James R; Garza-Flores, Alexandra; McGlothlin, Jeffery; Yang, Lin; Huang, Shaoping; Wang, Xiaodong; Jewett, Tamison; Rosso, Gretchen; Lin, Xi; Mohammed, Shehla; Merritt, J Lawrence; Mirzaa, Ghayda M; Timms, Andrew E; Scheck, Joshua.
Afiliación
  • Weerts MJA; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Lanko K; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Guzmán-Vega FJ; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal, Saudi Arabia.
  • Jackson A; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.
  • Ramakrishnan R; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Cardona-Londoño KJ; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal, Saudi Arabia.
  • Peña-Guerra KA; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal, Saudi Arabia.
  • van Bever Y; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal, Saudi Arabia.
  • van Paassen BW; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Kievit A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Allen NM; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Kehoe CM; Department of Paediatrics, National University of Ireland Galway, Galway, Ireland.
  • Robinson HK; Department of Paediatrics, National University of Ireland Galway, Galway, Ireland.
  • Pang L; Exeter Genomics Laboratory, RILD Building, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • Banu SH; Exeter Genomics Laboratory, RILD Building, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • Zaman M; Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Dhaka, Bangladesh.
  • Efthymiou S; Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Dhaka, Bangladesh.
  • Houlden H; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
  • Järvelä I; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
  • Lauronen L; Department of Medical Genetics, University of Helsinki, Helsinki, Finland.
  • Määttä T; Department of Clinical Neurophysiology, New Children´s Hospital, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital (HUH), Helsinki, Finland.
  • Schrauwen I; Disability Services, Joint Authority for Kainuu, Kajaani, Finland.
  • Leal SM; Center for Statistical Genetics, Sergievsky Center, Taub Institute for Alzheimer's Disease and the Aging Brain, Department of Neurology, Columbia University Medical Center, New York, NY, USA.
  • Ruivenkamp CAL; Center for Statistical Genetics, Sergievsky Center, Taub Institute for Alzheimer's Disease and the Aging Brain, Department of Neurology, Columbia University Medical Center, New York, NY, USA.
  • Barge-Schaapveld DQCM; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Peeters-Scholte CMPCD; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Galehdari H; Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.
  • Mazaheri N; Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
  • Sisodiya SM; Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
  • Harrison V; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.
  • Sun A; Chalfont Centre for Epilepsy, London, Bucks, UK.
  • Thies J; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.
  • Pedroza LA; Department of Pediatrics, Division of Genetic Medicine, University of Washington School of Medicine, Seattle, Washington, USA.
  • Lara-Taranchenko Y; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA.
  • Chinn IK; Department of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, New York, USA.
  • Lupski JR; Universidad San Francisco de Quito, Colegio de ciencias de la salud-Hospital de los Valles, Quito, Ecuador.
  • Garza-Flores A; Department of Pediatrics, Section of Immunology, Allergy, and Retrovirology, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA.
  • McGlothlin J; Center for Human Immunobiology of Texas Children's Hospital/Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
  • Yang L; Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Huang S; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
  • Wang X; Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, USA.
  • Jewett T; Cook Children's Genetics, Cook Children's Physician Network, Cook Children's Hospital, Fort Worth, TX, USA.
  • Rosso G; Cook Children's Neurosciences, Cook Children's Physician Network, Cook Children's Hospital, Fort Worth, TX, USA.
  • Lin X; Department of Pediatrics, The Second Affiliated Hospital of Xi 'an Jiaotong University, Xi'an, China.
  • Mohammed S; Department of Pediatrics, The Second Affiliated Hospital of Xi 'an Jiaotong University, Xi'an, China.
  • Merritt JL; Cipher Gene Ltd, Beijing, China.
  • Mirzaa GM; Department of Pediatrics, Section on Medical Genetics, Wake Forest School of Medicine, Winston-Salem, NC, USA.
  • Timms AE; Department of Pediatrics, Section on Medical Genetics, Wake Forest School of Medicine, Winston-Salem, NC, USA.
  • Scheck J; Pediatrics Department, The First Affiliated Hospital of Fujian Medical University, Fuzhou, China.
Genet Med ; 23(11): 2122-2137, 2021 11.
Article en En | MEDLINE | ID: mdl-34345025
Asunto(s)
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: N-Metiltransferasa de Histona-Lisina / Epilepsia / Trastornos del Neurodesarrollo / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies Límite: Humans / Male Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Países Bajos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: N-Metiltransferasa de Histona-Lisina / Epilepsia / Trastornos del Neurodesarrollo / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies Límite: Humans / Male Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Países Bajos