title: Functional characterization of multiple DICER1 mutations in an adolescent.
authors.affiliation: Department of Medical Genetics, Lady Davis Institute Jewish General Hospital, McGill UniversityMontréal, QuebecCanadaDepartment Endocrinology and Diabetes, Lady Cilento Children's HospitalBrisbane, QueenslandAustraliaSchool of Medicine, University of QueenslandBrisbane, QueenslandAustraliaQueensland Children's Medical Research InstituteBrisbane, QueenslandAustraliaDepartment of Histopathology, King Edward Memorial HospitalPerthAustraliaJohn Hunter Children's HospitalLookout Road, Newcastle, New South WalesAustraliaSchool of Medicine and Public Health, Hunter Medical Research Institute, University of NewcastleRankin Park, New South WalesAustraliaSchool of Paediatrics and Child Health, University of Western AustraliaCrawley, Western AustraliaAustraliaDepartment of Paediatric Endocrinology and Diabetes, Princess Margaret Hospital for Children, Child and Adolescent Health ServiceSubiaco, Western AustraliaAustraliaGenetics and Epigenetics in Health and Disease Genetics and Genomic Medicine Programme UCL Institute of Child Health Great Ormond Street Hospital for ChildrenLondonUKThe Scripps Research Institute3215 Merryfield Row, San Diego, CaliforniaUSADepartments of Oncology and Experimental Medicine, McGill UniversityMontréal, QuebecCanadaProgram in Cancer Genetics, Departments of Oncology and Human Genetics, McGill UniversityMontréal, Quebec, H3T 1E2Canada.
authors.forename: M K
authors.initials: MK
authors.lastname: Wu
authors.affiliation: Department of Medical Genetics, Lady Davis Institute Jewish General Hospital, McGill UniversityMontréal, QuebecCanadaDepartment Endocrinology and Diabetes, Lady Cilento Children's HospitalBrisbane, QueenslandAustraliaSchool of Medicine, University of QueenslandBrisbane, QueenslandAustraliaQueensland Children's Medical Research InstituteBrisbane, QueenslandAustraliaDepartment of Histopathology, King Edward Memorial HospitalPerthAustraliaJohn Hunter Children's HospitalLookout Road, Newcastle, New South WalesAustraliaSchool of Medicine and Public Health, Hunter Medical Research Institute, University of NewcastleRankin Park, New South WalesAustraliaSchool of Paediatrics and Child Health, University of Western AustraliaCrawley, Western AustraliaAustraliaDepartment of Paediatric Endocrinology and Diabetes, Princess Margaret Hospital for Children, Child and Adolescent Health ServiceSubiaco, Western AustraliaAustraliaGenetics and Epigenetics in Health and Disease Genetics and Genomic Medicine Programme UCL Institute of Child Health Great Ormond Street Hospital for ChildrenLondonUKThe Scripps Research Institute3215 Merryfield Row, San Diego, CaliforniaUSADepartments of Oncology and Experimental Medicine, McGill UniversityMontréal, QuebecCanadaProgram in Cancer Genetics, Departments of Oncology and Human Genetics, McGill UniversityMontréal, Quebec, H3T 1E2Canada.
authors.forename: L
authors.initials: L
authors.lastname: de Kock
authors.affiliation: Department of Medical Genetics, Lady Davis Institute Jewish General Hospital, McGill UniversityMontréal, QuebecCanadaDepartment Endocrinology and Diabetes, Lady Cilento Children's HospitalBrisbane, QueenslandAustraliaSchool of Medicine, University of QueenslandBrisbane, QueenslandAustraliaQueensland Children's Medical Research InstituteBrisbane, QueenslandAustraliaDepartment of Histopathology, King Edward Memorial HospitalPerthAustraliaJohn Hunter Children's HospitalLookout Road, Newcastle, New South WalesAustraliaSchool of Medicine and Public Health, Hunter Medical Research Institute, University of NewcastleRankin Park, New South WalesAustraliaSchool of Paediatrics and Child Health, University of Western AustraliaCrawley, Western AustraliaAustraliaDepartment of Paediatric Endocrinology and Diabetes, Princess Margaret Hospital for Children, Child and Adolescent Health ServiceSubiaco, Western AustraliaAustraliaGenetics and Epigenetics in Health and Disease Genetics and Genomic Medicine Programme UCL Institute of Child Health Great Ormond Street Hospital for ChildrenLondonUKThe Scripps Research Institute3215 Merryfield Row, San Diego, CaliforniaUSADepartments of Oncology and Experimental Medicine, McGill UniversityMontréal, QuebecCanadaProgram in Cancer Genetics, Departments of Oncology and Human Genetics, McGill UniversityMontréal, Quebec, H3T 1E2Canada Department of Medical Genetics, Lady Davis Institute Jewish General Hospital, McGill UniversityMontréal, QuebecCanadaDepartment Endocrinology and Diabetes, Lady Cilento Children's HospitalBrisbane, QueenslandAustraliaSchool of Medicine, University of QueenslandBrisbane, QueenslandAustraliaQueensland Children's Medical Research InstituteBrisbane, QueenslandAustraliaDepartment of Histopathology, King Edward Memorial HospitalPerthAustraliaJohn Hunter Children's HospitalLookout Road, Newcastle, New South WalesAustraliaSchool of Medicine and Public Health, Hunter Medical Research Institute, University of NewcastleRanki
authors.forename: L S
authors.initials: LS
authors.lastname: Conwell
authors.affiliation: Department of Medical Genetics, Lady Davis Institute Jewish General Hospital, McGill UniversityMontréal, QuebecCanadaDepartment Endocrinology and Diabetes, Lady Cilento Children's HospitalBrisbane, QueenslandAustraliaSchool of Medicine, University of QueenslandBrisbane, QueenslandAustraliaQueensland Children's Medical Research InstituteBrisbane, QueenslandAustraliaDepartment of Histopathology, King Edward Memorial HospitalPerthAustraliaJohn Hunter Children's HospitalLookout Road, Newcastle, New South WalesAustraliaSchool of Medicine and Public Health, Hunter Medical Research Institute, University of NewcastleRankin Park, New South WalesAustraliaSchool of Paediatrics and Child Health, University of Western AustraliaCrawley, Western AustraliaAustraliaDepartment of Paediatric Endocrinology and Diabetes, Princess Margaret Hospital for Children, Child and Adolescent Health ServiceSubiaco, Western AustraliaAustraliaGenetics and Epigenetics in Health and Disease Genetics and Genomic Medicine Programme UCL Institute of Child Health Great Ormond Street Hospital for ChildrenLondonUKThe Scripps Research Institute3215 Merryfield Row, San Diego, CaliforniaUSADepartments of Oncology and Experimental Medicine, McGill UniversityMontréal, QuebecCanadaProgram in Cancer Genetics, Departments of Oncology and Human Genetics, McGill UniversityMontréal, Quebec, H3T 1E2Canada.
authors.forename: C J R
authors.initials: CJ
authors.lastname: Stewart
authors.affiliation: Department of Medical Genetics, Lady Davis Institute Jewish General Hospital, McGill UniversityMontréal, QuebecCanadaDepartment Endocrinology and Diabetes, Lady Cilento Children's HospitalBrisbane, QueenslandAustraliaSchool of Medicine, University of QueenslandBrisbane, QueenslandAustraliaQueensland Children's Medical Research InstituteBrisbane, QueenslandAustraliaDepartment of Histopathology, King Edward Memorial HospitalPerthAustraliaJohn Hunter Children's HospitalLookout Road, Newcastle, New South WalesAustraliaSchool of Medicine and Public Health, Hunter Medical Research Institute, University of NewcastleRankin Park, New South WalesAustraliaSchool of Paediatrics and Child Health, University of Western AustraliaCrawley, Western AustraliaAustraliaDepartment of Paediatric Endocrinology and Diabetes, Princess Margaret Hospital for Children, Child and Adolescent Health ServiceSubiaco, Western AustraliaAustraliaGenetics and Epigenetics in Health and Disease Genetics and Genomic Medicine Programme UCL Institute of Child Health Great Ormond Street Hospital for ChildrenLondonUKThe Scripps Research Institute3215 Merryfield Row, San Diego, CaliforniaUSADepartments of Oncology and Experimental Medicine, McGill UniversityMontréal, QuebecCanadaProgram in Cancer Genetics, Departments of Oncology and Human Genetics, McGill UniversityMontréal, Quebec, H3T 1E2Canada Department of Medical Genetics, Lady Davis Institute Jewish General Hospital, McGill UniversityMontréal, QuebecCanadaDepartment Endocrinology and Diabetes, Lady Cilento Children's HospitalBrisbane, QueenslandAustraliaSchool of Medicine, University of QueenslandBrisbane, QueenslandAustraliaQueensland Children's Medical Research InstituteBrisbane, QueenslandAustraliaDepartment of Histopathology, King Edward Memorial HospitalPerthAustraliaJohn Hunter Children's HospitalLookout Road, Newcastle, New South WalesAustraliaSchool of Medicine and Public Health, Hunter Medical Research Institute, University of NewcastleRanki
authors.forename: B R
authors.initials: BR
authors.lastname: King
authors.affiliation: Department of Medical Genetics, Lady Davis Institute Jewish General Hospital, McGill UniversityMontréal, QuebecCanadaDepartment Endocrinology and Diabetes, Lady Cilento Children's HospitalBrisbane, QueenslandAustraliaSchool of Medicine, University of QueenslandBrisbane, QueenslandAustraliaQueensland Children's Medical Research InstituteBrisbane, QueenslandAustraliaDepartment of Histopathology, King Edward Memorial HospitalPerthAustraliaJohn Hunter Children's HospitalLookout Road, Newcastle, New South WalesAustraliaSchool of Medicine and Public Health, Hunter Medical Research Institute, University of NewcastleRankin Park, New South WalesAustraliaSchool of Paediatrics and Child Health, University of Western AustraliaCrawley, Western AustraliaAustraliaDepartment of Paediatric Endocrinology and Diabetes, Princess Margaret Hospital for Children, Child and Adolescent Health ServiceSubiaco, Western AustraliaAustraliaGenetics and Epigenetics in Health and Disease Genetics and Genomic Medicine Programme UCL Institute of Child Health Great Ormond Street Hospital for ChildrenLondonUKThe Scripps Research Institute3215 Merryfield Row, San Diego, CaliforniaUSADepartments of Oncology and Experimental Medicine, McGill UniversityMontréal, QuebecCanadaProgram in Cancer Genetics, Departments of Oncology and Human Genetics, McGill UniversityMontréal, Quebec, H3T 1E2Canada Department of Medical Genetics, Lady Davis Institute Jewish General Hospital, McGill UniversityMontréal, QuebecCanadaDepartment Endocrinology and Diabetes, Lady Cilento Children's HospitalBrisbane, QueenslandAustraliaSchool of Medicine, University of QueenslandBrisbane, QueenslandAustraliaQueensland Children's Medical Research InstituteBrisbane, QueenslandAustraliaDepartment of Histopathology, King Edward Memorial HospitalPerthAustraliaJohn Hunter Children's HospitalLookout Road, Newcastle, New South WalesAustraliaSchool of Medicine and Public Health, Hunter Medical Research Institute, University of NewcastleRanki
authors.forename: C S
authors.initials: CS
authors.lastname: Choong
authors.affiliation: Department of Medical Genetics, Lady Davis Institute Jewish General Hospital, McGill UniversityMontréal, QuebecCanadaDepartment Endocrinology and Diabetes, Lady Cilento Children's HospitalBrisbane, QueenslandAustraliaSchool of Medicine, University of QueenslandBrisbane, QueenslandAustraliaQueensland Children's Medical Research InstituteBrisbane, QueenslandAustraliaDepartment of Histopathology, King Edward Memorial HospitalPerthAustraliaJohn Hunter Children's HospitalLookout Road, Newcastle, New South WalesAustraliaSchool of Medicine and Public Health, Hunter Medical Research Institute, University of NewcastleRankin Park, New South WalesAustraliaSchool of Paediatrics and Child Health, University of Western AustraliaCrawley, Western AustraliaAustraliaDepartment of Paediatric Endocrinology and Diabetes, Princess Margaret Hospital for Children, Child and Adolescent Health ServiceSubiaco, Western AustraliaAustraliaGenetics and Epigenetics in Health and Disease Genetics and Genomic Medicine Programme UCL Institute of Child Health Great Ormond Street Hospital for ChildrenLondonUKThe Scripps Research Institute3215 Merryfield Row, San Diego, CaliforniaUSADepartments of Oncology and Experimental Medicine, McGill UniversityMontréal, QuebecCanadaProgram in Cancer Genetics, Departments of Oncology and Human Genetics, McGill UniversityMontréal, Quebec, H3T 1E2Canada.
authors.forename: K
authors.initials: K
authors.lastname: Hussain
authors.affiliation: Department of Medical Genetics, Lady Davis Institute Jewish General Hospital, McGill UniversityMontréal, QuebecCanadaDepartment Endocrinology and Diabetes, Lady Cilento Children's HospitalBrisbane, QueenslandAustraliaSchool of Medicine, University of QueenslandBrisbane, QueenslandAustraliaQueensland Children's Medical Research InstituteBrisbane, QueenslandAustraliaDepartment of Histopathology, King Edward Memorial HospitalPerthAustraliaJohn Hunter Children's HospitalLookout Road, Newcastle, New South WalesAustraliaSchool of Medicine and Public Health, Hunter Medical Research Institute, University of NewcastleRankin Park, New South WalesAustraliaSchool of Paediatrics and Child Health, University of Western AustraliaCrawley, Western AustraliaAustraliaDepartment of Paediatric Endocrinology and Diabetes, Princess Margaret Hospital for Children, Child and Adolescent Health ServiceSubiaco, Western AustraliaAustraliaGenetics and Epigenetics in Health and Disease Genetics and Genomic Medicine Programme UCL Institute of Child Health Great Ormond Street Hospital for ChildrenLondonUKThe Scripps Research Institute3215 Merryfield Row, San Diego, CaliforniaUSADepartments of Oncology and Experimental Medicine, McGill UniversityMontréal, QuebecCanadaProgram in Cancer Genetics, Departments of Oncology and Human Genetics, McGill UniversityMontréal, Quebec, H3T 1E2Canada.
authors.forename: N
authors.initials: N
authors.lastname: Sabbaghian
authors.affiliation: Department of Medical Genetics, Lady Davis Institute Jewish General Hospital, McGill UniversityMontréal, QuebecCanadaDepartment Endocrinology and Diabetes, Lady Cilento Children's HospitalBrisbane, QueenslandAustraliaSchool of Medicine, University of QueenslandBrisbane, QueenslandAustraliaQueensland Children's Medical Research InstituteBrisbane, QueenslandAustraliaDepartment of Histopathology, King Edward Memorial HospitalPerthAustraliaJohn Hunter Children's HospitalLookout Road, Newcastle, New South WalesAustraliaSchool of Medicine and Public Health, Hunter Medical Research Institute, University of NewcastleRankin Park, New South WalesAustraliaSchool of Paediatrics and Child Health, University of Western AustraliaCrawley, Western AustraliaAustraliaDepartment of Paediatric Endocrinology and Diabetes, Princess Margaret Hospital for Children, Child and Adolescent Health ServiceSubiaco, Western AustraliaAustraliaGenetics and Epigenetics in Health and Disease Genetics and Genomic Medicine Programme UCL Institute of Child Health Great Ormond Street Hospital for ChildrenLondonUKThe Scripps Research Institute3215 Merryfield Row, San Diego, CaliforniaUSADepartments of Oncology and Experimental Medicine, McGill UniversityMontréal, QuebecCanadaProgram in Cancer Genetics, Departments of Oncology and Human Genetics, McGill UniversityMontréal, Quebec, H3T 1E2Canada.
authors.forename: I J
authors.initials: IJ
authors.lastname: MacRae
authors.affiliation: Department of Medical Genetics, Lady Davis Institute Jewish General Hospital, McGill UniversityMontréal, QuebecCanadaDepartment Endocrinology and Diabetes, Lady Cilento Children's HospitalBrisbane, QueenslandAustraliaSchool of Medicine, University of QueenslandBrisbane, QueenslandAustraliaQueensland Children's Medical Research InstituteBrisbane, QueenslandAustraliaDepartment of Histopathology, King Edward Memorial HospitalPerthAustraliaJohn Hunter Children's HospitalLookout Road, Newcastle, New South WalesAustraliaSchool of Medicine and Public Health, Hunter Medical Research Institute, University of NewcastleRankin Park, New South WalesAustraliaSchool of Paediatrics and Child Health, University of Western AustraliaCrawley, Western AustraliaAustraliaDepartment of Paediatric Endocrinology and Diabetes, Princess Margaret Hospital for Children, Child and Adolescent Health ServiceSubiaco, Western AustraliaAustraliaGenetics and Epigenetics in Health and Disease Genetics and Genomic Medicine Programme UCL Institute of Child Health Great Ormond Street Hospital for ChildrenLondonUKThe Scripps Research Institute3215 Merryfield Row, San Diego, CaliforniaUSADepartments of Oncology and Experimental Medicine, McGill UniversityMontréal, QuebecCanadaProgram in Cancer Genetics, Departments of Oncology and Human Genetics, McGill UniversityMontréal, Quebec, H3T 1E2Canada.
authors.forename: M R
authors.initials: MR
authors.lastname: Fabian
authors.affiliation: Department of Medical Genetics, Lady Davis Institute Jewish General Hospital, McGill UniversityMontréal, QuebecCanadaDepartment Endocrinology and Diabetes, Lady Cilento Children's HospitalBrisbane, QueenslandAustraliaSchool of Medicine, University of QueenslandBrisbane, QueenslandAustraliaQueensland Children's Medical Research InstituteBrisbane, QueenslandAustraliaDepartment of Histopathology, King Edward Memorial HospitalPerthAustraliaJohn Hunter Children's HospitalLookout Road, Newcastle, New South WalesAustraliaSchool of Medicine and Public Health, Hunter Medical Research Institute, University of NewcastleRankin Park, New South WalesAustraliaSchool of Paediatrics and Child Health, University of Western AustraliaCrawley, Western AustraliaAustraliaDepartment of Paediatric Endocrinology and Diabetes, Princess Margaret Hospital for Children, Child and Adolescent Health ServiceSubiaco, Western AustraliaAustraliaGenetics and Epigenetics in Health and Disease Genetics and Genomic Medicine Programme UCL Institute of Child Health Great Ormond Street Hospital for ChildrenLondonUKThe Scripps Research Institute3215 Merryfield Row, San Diego, CaliforniaUSADepartments of Oncology and Experimental Medicine, McGill UniversityMontréal, QuebecCanadaProgram in Cancer Genetics, Departments of Oncology and Human Genetics, McGill UniversityMontréal, Quebec, H3T 1E2Canada Department of Medical Genetics, Lady Davis Institute Jewish General Hospital, McGill UniversityMontréal, QuebecCanadaDepartment Endocrinology and Diabetes, Lady Cilento Children's HospitalBrisbane, QueenslandAustraliaSchool of Medicine, University of QueenslandBrisbane, QueenslandAustraliaQueensland Children's Medical Research InstituteBrisbane, QueenslandAustraliaDepartment of Histopathology, King Edward Memorial HospitalPerthAustraliaJohn Hunter Children's HospitalLookout Road, Newcastle, New South WalesAustraliaSchool of Medicine and Public Health, Hunter Medical Research Institute, University of NewcastleRanki
authors.forename: W D
authors.initials: WD
authors.lastname: Foulkes
mesh_terms: D000293:Adolescent; D002648:Child; D053487:DEAD-box RNA Helicases / Q000235:genetics*; D005260:Female; D006042:Goiter / Q000235:genetics* / Q000601:surgery; D006801:Humans; D009154:Mutation; D010051:Ovarian Neoplasms / Q000235:genetics* / Q000601:surgery; D043244:Ribonuclease III / Q000235:genetics*; D018310:Sertoli-Leydig Cell Tumor / Q000235:genetics* / Q000601:surgery
chemical_list: C408087:DICER1 protein, human; D043244:Ribonuclease III; D053487:DEAD-box RNA Helicases