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A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.

Autor: Gallon R; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom., Mühlegger B; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Wenzel SS; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Sheth H; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom., Hayes C; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom., Aretz S; Institute of Human Genetics, Biomedical Centre, University Hospital Bonn, Bonn, Germany., Dahan K; Centre de génétique humaine, Institut de pathologie et génétique (IPG), Gosselies, Belgium., Foulkes W; Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada.; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.; Department of Medical Genetics, McGill University Health Centre, Montreal, Quebec, Canada.; Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal, Quebec, Canada., Kratz CP; Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany., Ripperger T; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Azizi AA; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria., Baris Feldman H; The Genetics Institute, Rambam Health Care Campus, and The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel., Chong AL; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.; Department of Medical Genetics, McGill University Health Centre, Montreal, Quebec, Canada.; Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal, Quebec, Canada., Demirsoy U; Department of Pediatric Oncology, Kocaeli University, Kocaeli, Turkey., Florkin B; Department of Pediatrics, CHR Citadelle Hospital, University of Liège, Liège, Belgium., Imschweiler T; Pediatric Oncology, Helios-Klinikum, Krefeld, Germany., Januszkiewicz-Lewandowska D; Department of Pediatric Oncology, Hematology and Transplantation, Poznań University of Medical Sciences, Poznań, Poland., Lobitz S; Department of Pediatric Oncology/Pediatric Hematology, Kliniken der Stadt Köln gGmbH, Children's Hospital Amsterdamer Strasse, Köln, Germany., Nathrath M; Pediatric Hematology and Oncology, Klinikum Kassel, Kassel, Germany.; Department of Pediatrics, Pediatric Oncology Center , Technische Universität München, Munich, Germany., Pander HJ; Institut für Klinische Genetik, Olgahospital, Stuttgart, Germany., Perez-Alonso V; Pediatrics Department, University Hospital Doce de Octubre, i+12 Research Institute, Madrid, Spain., Perne C; Institute of Human Genetics, Biomedical Centre, University Hospital Bonn, Bonn, Germany., Ragab I; Pediatrics Department, Hematology-Oncology Unit, Faculty of Medicine, Ain Shams University, Cairo, Egypt., Rosenbaum T; Department of Pediatrics, Sana Kliniken Duisburg, Duisburg, Germany., Rueda D; Hereditary Cancer Laboratory, University Hospital Doce de Octubre, i+12 Research Institute, Madrid, Spain., Seidel MG; Research Unit Pediatric Hematology and Immunology, Division of Pediatric Hematology-Oncology, Department of Pediatrics and Adolescent Medicine, Medical University Graz, Graz, Austria., Suerink M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands., Taeubner J; Department of Pediatric Oncology, Hematology and Clinical Immunology, University Children´s Hospital, Medical Faculty, Heinrich Heine University, Duesseldorf, Germany., Zimmermann SY; Department of Pediatric Hematology and Oncology, Children's Hospital, University Hospital, Frankfurt, Germany., Zschocke J; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Borthwick GM; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom., Burn J; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom., Jackson MS; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom., Santibanez-Koref M; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom., Wimmer K; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.

Publikováno v: Human mutation [Hum Mutat] 2019 May; Vol. 40 (5), pp. 649-655. Date of Electronic Publication: 2019 Mar 06.