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Performance of the eHealth decision support tool, MIPOGG, for recognising children with Li-Fraumeni, DICER1, Constitutional mismatch repair deficiency and Gorlin syndromes.

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作者单位: Department of Human Genetics, McGill University, Montreal, Québec, Canada.;Genetic Counselling Services, Sudbury Regional Hospital, Sudbury, Ontario, Canada. [1] Department of Paediatric Haematology-Oncology, Children's Health Ireland, Dublin, Ireland.;Department of Pediatrics, Division of Hematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada. [2] Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada. [3] Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada.;Hereditary Cancer Program, BC Cancer Agency, Vancouver, British Columbia, Canada. [4] Division of Pediatric Hematology-Oncology, Centre intégré universitaire de santé et de services sociaux de l'Estrie Centre hospitalier universitaire de Sherbrooke, Sherbrooke, Quebec, Canada. [5] Department of Genetics and Genome Biology, University of Toronto, Toronto, Ontario, Canada. [6] Department of Pediatric Hematology-Oncology, London Health Sciences Centre, London, Ontario, Canada. [7] Charles-Bruneau Cancer Centre, Pediatric Hematology-Oncology Division, Centre Hospitalier Universitaire Sainte-Justine Centre de Recherche, Montreal, Québec, Canada. [8] Charles-Bruneau Cancer Centre, Pediatric Hematology-Oncology Division, Centre Hospitalier Universitaire Sainte-Justine Centre de Recherche, Montreal, Québec, Canada.;Division of Hematology/Oncology, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada. [9] Division of Pediatric Hematology/Oncology/BMT, BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada. [10] Pediatric Hematology/Oncology, University of Saskatchewan, Saskatoon, Saskatchewan, Canada. [11] Division of Hematology/Oncology, Department of Pediatrics, IWK Health Centre, Halifax, Nova Scotia, Canada. [12] Division of Pediatric Hematology/Oncology, McMaster Children's Hospital, Hamilton, Ontario, Canada. [13] Department of Pediatrics, Division of Hematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada.;Department of Haematology, King Abdulaziz University, Jeddah, Makkah, Saudi Arabia. [14] Department of Human Genetics, McGill University, Montreal, Québec, Canada.;Division of Hematology-Oncology, Department of Pediatrics, McGill University Health Centre, Montreal, Québec, Canada. [15] Division of Hematology/Oncology, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada. [16] Section of Pediatric Hematology, Oncology and Bone Marrow Transplantation, Alberta Children's Hospital, Calgary, Alberta, Canada. [17] Department of Pediatrics, Centre mère-enfant Soleil du CHU de Québec-Université Laval, Quebec City, Quebec, Canada. [18] Centre de recherche du CHUS, Centre intégré universitaire de santé et de services sociaux de l'Estrie Centre hospitalier universitaire de Sherbrooke, Sherbrooke, Quebec, Canada. [19] Department of Pediatrics, Division of Hematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada.;Division of Hematology/Oncology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel. [20] Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada. [21] Paediatric Haematology/Oncology Programme, Bristol Royal Hospital for Children, Bristol, UK. [22] Centre for Outcomes Research and Evaluation, Research Institute of the McGill University Health Centre, Montreal, Québec, Canada. [23] Department of Medicine, University Laval, Québec, Québec, Canada. [24] Division of Pediatric Hematology-Oncology, Centre intégré universitaire de santé et de services sociaux de l'Estrie Centre hospitalier universitaire de Sherbrooke, Sherbrooke, Quebec, Canada.;Charles-Bruneau Cancer Centre, Pediatric Hematology-Oncology Division, Centre Hospitalier Universitaire Sainte-Justine Centre de Recherche, Montreal, Québec, Canada. [25] Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, Ontario, Canada. [26] Department of Pediatrics, Division of Hematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada.;Pediatric Oncology and Hematology, University Children's Hospital Bern, University of Bern, Bern, Switzerland. [27] Department of Pediatrics, Division of Hematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada. [28] Departments of Human Genetics, Oncology and Medicine, McGill University, Montreal, Quebec, Canada. [29] Department of Human Genetics, McGill University, Montreal, Québec, Canada lara.reichman@muhc.mcgill.ca.;Department of Child Health and Human Development, Research Institute of the McGill University Health Centre, Montreal, Québec, Canada. [30] Division of Hematology-Oncology, Department of Pediatrics, McGill University Health Centre, Montreal, Québec, Canada.;Department of Child Health and Human Development, Research Institute of the McGill University Health Centre, Montreal, Québec, Canada. [31]
DOI 10.1136/jmg-2023-109376
PMID 37460202
发布时间 2024-12-11
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