المؤلفون: Rauen KA; Department of Pediatics, Division of Genomic Medicine, University of California Davis, Sacramento, California., Alsaegh A; Genetics Department, Sultan Qaboos University and Hospital, Muscat, Oman., Ben-Shachar S; Genetics Institute, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Illinois., Berman Y; Department of Clinical Genetics, Royal North Shore Hospital, Sydney, Australia., Blakeley J; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland., Cordeiro I; Hospital Santa Maria, Lisbon, Portugal., Elgersma Y; Department of Neuroscience, Erasmus University Medical Center, Rotterdam, Netherlands., Evans DG; Manchester Center for Genomic Medicine, University of Manchester, Manchester, United Kingdom., Fisher MJ; Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Frayling IM; Institute of Medical Genetics, Cardiff University, Cardiff, United Kingdom., George J; Salford Royal NHS Foundation Trust, Manchester, United Kingdom., Huson SM; Manchester Center for Genomic Medicine, University of Manchester, Manchester, United Kingdom., Kerr B; Manchester Center for Genomic Medicine, University of Manchester, Manchester, United Kingdom., Khire U; Allomek Therapeutics, Farmington, Connecticut., Korf B; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama., Legius E; Center for Human Genetics, University Hospitals Leuven and KULeuven, Belgium., Messiaen L; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama., van Minkelen R; Department of Neuroscience, Erasmus University Medical Center, Rotterdam, Netherlands., Nampoothiri S; Amrita Institute of Medical Sciences, Kochi, Kerala, India., Ngeow J; Lee Kong Chian School of Medicine, Nanyang Technological University Singapore, Singapore, Singapore., Parada LF; Memorial Sloan Kettering Cancer Center, New York, New York., Phadke S; Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India., Pillai A; Amrita Institute of Medical Sciences, Kochi, Kerala, India., Plotkin SR; Department of Neurology, Harvard Medical School, Boston, Massachusetts., Puri R; Sir Ganga Ram Hospital, New Delhi, India., Raji A; Manchester Center for Genomic Medicine, University of Manchester, Manchester, United Kingdom., Ramesh V; Department of Neurology, Harvard Medical School, Boston, Massachusetts., Ratner N; Department of Pediatrics, University of Cincinnati, Cincinnati, Ohio., Shankar SP; Department of Pediatics, Division of Genomic Medicine, University of California Davis, Sacramento, California., Sharda S; MEDGENOME Labs, Bangalore, India., Tambe A; Royal Manchester Children's Hospital, Manchester, United Kingdom., Vikkula M; University of Louvain, Brussels, Belgium., Widemann BC; NCI Center for Cancer Research, Bethesda, Maryland., Wolkenstein P; Henri-Mondor University and Hospital, Paris, France., Upadhyaya M; Institute of Medical Genetics, Cardiff University, Cardiff, United Kingdom.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2019 Jun; Vol. 179 (6), pp. 1091-1097. Date of Electronic Publication: 2019 Mar 25.

نوع المنشور: Congress; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Association Studies*/methods , Genetic Predisposition to Disease*, Mitogen-Activated Protein Kinases/*genetics , Neurofibromatoses/*etiology , ras Proteins/*genetics, Biomarkers ; Disease Management ; Humans ; Mitogen-Activated Protein Kinases/metabolism ; Molecular Diagnostic Techniques ; Molecular Targeted Therapy ; Neurofibromatoses/diagnosis ; Neurofibromatoses/therapy ; Signal Transduction ; Translational Research, Biomedical ; ras Proteins/metabolism