Practical guidelines for managing adults with 22q11.2 deletion syndrome
Identifieur interne : 000578 ( Main/Exploration ); précédent : 000577; suivant : 000579Practical guidelines for managing adults with 22q11.2 deletion syndrome
Auteurs : Wai Lun Alan Fung [Canada] ; Nancy J. Butcher [Canada] ; Gregory Costain [Canada] ; Danielle M. Andrade [Canada] ; Erik Boot [Canada, Pays-Bas] ; Eva W. C. Chow [Canada] ; Brian Chung [République populaire de Chine] ; Cheryl Cytrynbaum [Canada] ; Hanna Faghfoury [Canada] ; Leona Fishman [Canada] ; Sixto García-Mi Aúr [Espagne] ; Susan George [Canada] ; Anthony E. Lang [Canada] ; Gabriela Repetto [Chili] ; Andrea Shugar [Canada] ; Candice Silversides [Canada] ; Ann Swillen [Belgique] ; Therese Van Amelsvoort [Pays-Bas] ; Donna M. Mcdonald-Mcginn [États-Unis] ; Anne S. Bassett [Canada]Source :
- Genetics in medicine : official journal of the American College of Medical Genetics [ 1098-3600 ] ; 2015.
Abstract
22q11.2 Deletion syndrome (22q11.2DS) is the most common microdeletion syndrome in humans, estimated to affect up to 1 in 2,000 live births. Major features of this multisystem condition include congenital anomalies, developmental delay, and an array of early- and later-onset medical and psychiatric disorders. Advances in pediatric care ensure a growing population of adults with 22q11.2DS. Informed by an international panel of multidisciplinary experts and a comprehensive review of the existing literature concerning adults, we present the first set of guidelines focused on managing the neuropsychiatric, endocrine, cardiovascular, reproductive, psychosocial, genetic counseling, and other issues that are the focus of attention in adults with 22q11.2DS. We propose practical strategies for the recognition, evaluation, surveillance, and management of the associated morbidities.
Url:
DOI: 10.1038/gim.2014.175
PubMed: 25569435
PubMed Central: 4526275
Affiliations:
- Belgique, Canada, Chili, Espagne, Pays-Bas, République populaire de Chine, États-Unis
- Communauté de Madrid, Hollande-Septentrionale, Ontario, Pennsylvanie
- Amsterdam, Madrid, Toronto
- Université de Toronto
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Le document en format XML
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C." last="Chow">Eva W. C. Chow</name><affiliation wicri:level="1"><nlm:aff id="A2">Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="A4">Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Psychiatry, University of Toronto, Toronto, Ontario</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Chung, Brian" sort="Chung, Brian" uniqKey="Chung B" first="Brian" last="Chung">Brian Chung</name><affiliation wicri:level="1"><nlm:aff id="A8">Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region</wicri:regionArea><wicri:noRegion>Hong Kong Special Administrative Region</wicri:noRegion></affiliation></author><author><name sortKey="Cytrynbaum, Cheryl" sort="Cytrynbaum, Cheryl" uniqKey="Cytrynbaum C" first="Cheryl" last="Cytrynbaum">Cheryl Cytrynbaum</name><affiliation wicri:level="1"><nlm:aff id="A9">Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Faghfoury, Hanna" sort="Faghfoury, Hanna" uniqKey="Faghfoury H" first="Hanna" last="Faghfoury">Hanna Faghfoury</name><affiliation wicri:level="1"><nlm:aff id="A10">The Fred A. Litwin and Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>The Fred A. 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Lang</name><affiliation wicri:level="4"><nlm:aff id="A6">Division of Neurology, Toronto Western Hospital, Krembil Neurosciences Centre, University of Toronto, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Neurology, Toronto Western Hospital, Krembil Neurosciences Centre, University of Toronto, Toronto, Ontario</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="A14">The Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson’s Disease, Toronto Western Hospital, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>The Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson’s Disease, Toronto Western Hospital, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Repetto, Gabriela" sort="Repetto, Gabriela" uniqKey="Repetto G" first="Gabriela" last="Repetto">Gabriela Repetto</name><affiliation wicri:level="1"><nlm:aff id="A15">Center for Genetics and Genomics, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile</nlm:aff><country xml:lang="fr">Chili</country><wicri:regionArea>Center for Genetics and Genomics, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago</wicri:regionArea><wicri:noRegion>Santiago</wicri:noRegion></affiliation></author><author><name sortKey="Shugar, Andrea" sort="Shugar, Andrea" uniqKey="Shugar A" first="Andrea" last="Shugar">Andrea Shugar</name><affiliation wicri:level="1"><nlm:aff id="A9">Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Silversides, Candice" sort="Silversides, Candice" uniqKey="Silversides C" first="Candice" last="Silversides">Candice Silversides</name><affiliation wicri:level="1"><nlm:aff id="A1">The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A16">Division of Obstetric Medicine, Medical Disorders of Pregnancy Program, Mount Sinai Hospital, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Obstetric Medicine, Medical Disorders of Pregnancy Program, Mount Sinai Hospital, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A17">Division of Cardiology, Department of Medicine, University Health Network, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Cardiology, Department of Medicine, University Health Network, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Swillen, Ann" sort="Swillen, Ann" uniqKey="Swillen A" first="Ann" last="Swillen">Ann Swillen</name><affiliation wicri:level="1"><nlm:aff id="A18">Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Flanders, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Flanders</wicri:regionArea><wicri:noRegion>Flanders</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A19">Department of Human Genetics, University of Leuven (KU Leuven), Leuven, Flanders, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Human Genetics, University of Leuven (KU Leuven), Leuven, Flanders</wicri:regionArea><wicri:noRegion>Flanders</wicri:noRegion></affiliation></author><author><name sortKey="Van Amelsvoort, Therese" sort="Van Amelsvoort, Therese" uniqKey="Van Amelsvoort T" first="Therese" last="Van Amelsvoort">Therese Van Amelsvoort</name><affiliation wicri:level="1"><nlm:aff id="A20">Department of Psychiatry and Psychology, School for Mental Health and Neuroscience, Maastricht University Medical Centre, Maastricht, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Psychiatry and Psychology, School for Mental Health and Neuroscience, Maastricht University Medical Centre, Maastricht</wicri:regionArea><wicri:noRegion>Maastricht</wicri:noRegion></affiliation></author><author><name sortKey="Mcdonald Mcginn, Donna M" sort="Mcdonald Mcginn, Donna M" uniqKey="Mcdonald Mcginn D" first="Donna M." last="Mcdonald-Mcginn">Donna M. Mcdonald-Mcginn</name><affiliation wicri:level="2"><nlm:aff id="A21">Division of Human Genetics, 22q and You Center, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Human Genetics, 22q and You Center, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></affiliation><affiliation wicri:level="2"><nlm:aff id="A22">Clinical Genetics Center, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Clinical Genetics Center, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></affiliation><affiliation wicri:level="2"><nlm:aff id="A23">Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Bassett, Anne S" sort="Bassett, Anne S" uniqKey="Bassett A" first="Anne S." last="Bassett">Anne S. 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Health Network, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Psychiatry and Toronto General Research Institute, University Health Network, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="A4">Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Psychiatry, University of Toronto, Toronto, Ontario</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation><affiliation wicri:level="4"><nlm:aff id="A5">Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Institute of Medical Science, University of Toronto, Toronto, 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type="wicri:doubleKey">1098-3600:2015:Fung W:practical:guidelines:for</idno><idno type="wicri:Area/Main/Merge">000579</idno><idno type="wicri:Area/Main/Curation">000578</idno><idno type="wicri:Area/Main/Exploration">000578</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Practical guidelines for managing adults with 22q11.2 deletion syndrome</title><author><name sortKey="Fung, Wai Lun Alan" sort="Fung, Wai Lun Alan" uniqKey="Fung W" first="Wai Lun Alan" last="Fung">Wai Lun Alan Fung</name><affiliation wicri:level="1"><nlm:aff id="A1">The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A2">Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A3">Department of Psychiatry and Toronto General Research Institute, University Health Network, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Psychiatry and Toronto General Research Institute, University Health Network, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="A4">Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Psychiatry, University of Toronto, Toronto, Ontario</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Butcher, Nancy J" sort="Butcher, Nancy J" uniqKey="Butcher N" first="Nancy J." last="Butcher">Nancy J. Butcher</name><affiliation wicri:level="1"><nlm:aff id="A2">Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="A5">Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Institute of Medical Science, University of Toronto, Toronto, Ontario</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Costain, Gregory" sort="Costain, Gregory" uniqKey="Costain G" first="Gregory" last="Costain">Gregory Costain</name><affiliation wicri:level="1"><nlm:aff id="A2">Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="A5">Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Institute of Medical Science, University of Toronto, Toronto, Ontario</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Andrade, Danielle M" sort="Andrade, Danielle M" uniqKey="Andrade D" first="Danielle M." last="Andrade">Danielle M. Andrade</name><affiliation wicri:level="1"><nlm:aff id="A1">The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="A6">Division of Neurology, Toronto Western Hospital, Krembil Neurosciences Centre, University of Toronto, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Neurology, Toronto Western Hospital, Krembil Neurosciences Centre, University of Toronto, Toronto, Ontario</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Boot, Erik" sort="Boot, Erik" uniqKey="Boot E" first="Erik" last="Boot">Erik Boot</name><affiliation wicri:level="1"><nlm:aff id="A1">The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A2">Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A3">Department of Psychiatry and Toronto General Research Institute, University Health Network, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Psychiatry and Toronto General Research Institute, University Health Network, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="A4">Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Psychiatry, University of Toronto, Toronto, Ontario</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="A7">Department of Nuclear Medicine, Academic Medical Center, Amsterdam, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Nuclear Medicine, Academic Medical Center, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Chow, Eva W C" sort="Chow, Eva W C" uniqKey="Chow E" first="Eva W. C." last="Chow">Eva W. C. Chow</name><affiliation wicri:level="1"><nlm:aff id="A2">Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="A4">Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Psychiatry, University of Toronto, Toronto, Ontario</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Chung, Brian" sort="Chung, Brian" uniqKey="Chung B" first="Brian" last="Chung">Brian Chung</name><affiliation wicri:level="1"><nlm:aff id="A8">Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region</wicri:regionArea><wicri:noRegion>Hong Kong Special Administrative Region</wicri:noRegion></affiliation></author><author><name sortKey="Cytrynbaum, Cheryl" sort="Cytrynbaum, Cheryl" uniqKey="Cytrynbaum C" first="Cheryl" last="Cytrynbaum">Cheryl Cytrynbaum</name><affiliation wicri:level="1"><nlm:aff id="A9">Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Faghfoury, Hanna" sort="Faghfoury, Hanna" uniqKey="Faghfoury H" first="Hanna" last="Faghfoury">Hanna Faghfoury</name><affiliation wicri:level="1"><nlm:aff id="A10">The Fred A. Litwin and Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>The Fred A. Litwin and Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Fishman, Leona" sort="Fishman, Leona" uniqKey="Fishman L" first="Leona" last="Fishman">Leona Fishman</name><affiliation wicri:level="1"><nlm:aff id="A9">Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Garcia Mi Aur, Sixto" sort="Garcia Mi Aur, Sixto" uniqKey="Garcia Mi Aur S" first="Sixto" last="García-Mi Aúr">Sixto García-Mi Aúr</name><affiliation wicri:level="3"><nlm:aff id="A11">Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain</nlm:aff><country xml:lang="fr">Espagne</country><wicri:regionArea>Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="George, Susan" sort="George, Susan" uniqKey="George S" first="Susan" last="George">Susan George</name><affiliation wicri:level="1"><nlm:aff id="A1">The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A12">Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="A13">Department of Pharmacology, University of Toronto, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Pharmacology, University of Toronto, Toronto, Ontario</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name><affiliation wicri:level="4"><nlm:aff id="A6">Division of Neurology, Toronto Western Hospital, Krembil Neurosciences Centre, University of Toronto, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Neurology, Toronto Western Hospital, Krembil Neurosciences Centre, University of Toronto, Toronto, Ontario</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="A14">The Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson’s Disease, Toronto Western Hospital, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>The Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson’s Disease, Toronto Western Hospital, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Repetto, Gabriela" sort="Repetto, Gabriela" uniqKey="Repetto G" first="Gabriela" last="Repetto">Gabriela Repetto</name><affiliation wicri:level="1"><nlm:aff id="A15">Center for Genetics and Genomics, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile</nlm:aff><country xml:lang="fr">Chili</country><wicri:regionArea>Center for Genetics and Genomics, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago</wicri:regionArea><wicri:noRegion>Santiago</wicri:noRegion></affiliation></author><author><name sortKey="Shugar, Andrea" sort="Shugar, Andrea" uniqKey="Shugar A" first="Andrea" last="Shugar">Andrea Shugar</name><affiliation wicri:level="1"><nlm:aff id="A9">Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Silversides, Candice" sort="Silversides, Candice" uniqKey="Silversides C" first="Candice" last="Silversides">Candice Silversides</name><affiliation wicri:level="1"><nlm:aff id="A1">The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A16">Division of Obstetric Medicine, Medical Disorders of Pregnancy Program, Mount Sinai Hospital, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Obstetric Medicine, Medical Disorders of Pregnancy Program, Mount Sinai Hospital, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A17">Division of Cardiology, Department of Medicine, University Health Network, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Cardiology, Department of Medicine, University Health Network, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Swillen, Ann" sort="Swillen, Ann" uniqKey="Swillen A" first="Ann" last="Swillen">Ann Swillen</name><affiliation wicri:level="1"><nlm:aff id="A18">Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Flanders, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Flanders</wicri:regionArea><wicri:noRegion>Flanders</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A19">Department of Human Genetics, University of Leuven (KU Leuven), Leuven, Flanders, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Human Genetics, University of Leuven (KU Leuven), Leuven, Flanders</wicri:regionArea><wicri:noRegion>Flanders</wicri:noRegion></affiliation></author><author><name sortKey="Van Amelsvoort, Therese" sort="Van Amelsvoort, Therese" uniqKey="Van Amelsvoort T" first="Therese" last="Van Amelsvoort">Therese Van Amelsvoort</name><affiliation wicri:level="1"><nlm:aff id="A20">Department of Psychiatry and Psychology, School for Mental Health and Neuroscience, Maastricht University Medical Centre, Maastricht, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Psychiatry and Psychology, School for Mental Health and Neuroscience, Maastricht University Medical Centre, Maastricht</wicri:regionArea><wicri:noRegion>Maastricht</wicri:noRegion></affiliation></author><author><name sortKey="Mcdonald Mcginn, Donna M" sort="Mcdonald Mcginn, Donna M" uniqKey="Mcdonald Mcginn D" first="Donna M." last="Mcdonald-Mcginn">Donna M. Mcdonald-Mcginn</name><affiliation wicri:level="2"><nlm:aff id="A21">Division of Human Genetics, 22q and You Center, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Human Genetics, 22q and You Center, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></affiliation><affiliation wicri:level="2"><nlm:aff id="A22">Clinical Genetics Center, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Clinical Genetics Center, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></affiliation><affiliation wicri:level="2"><nlm:aff id="A23">Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Bassett, Anne S" sort="Bassett, Anne S" uniqKey="Bassett A" first="Anne S." last="Bassett">Anne S. Bassett</name><affiliation wicri:level="1"><nlm:aff id="A1">The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A2">Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A3">Department of Psychiatry and Toronto General Research Institute, University Health Network, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Psychiatry and Toronto General Research Institute, University Health Network, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="A4">Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Psychiatry, University of Toronto, Toronto, Ontario</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation><affiliation wicri:level="4"><nlm:aff id="A5">Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Institute of Medical Science, University of Toronto, Toronto, Ontario</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="A12">Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A17">Division of Cardiology, Department of Medicine, University Health Network, Toronto, Ontario, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Cardiology, Department of Medicine, University Health Network, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author></analytic><series><title level="j">Genetics in medicine : official journal of the American College of Medical Genetics</title><idno type="ISSN">1098-3600</idno><idno type="eISSN">1530-0366</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">22q11.2 Deletion syndrome (22q11.2DS) is the most common microdeletion syndrome in humans, estimated to affect up to 1 in 2,000 live births. Major features of this multisystem condition include congenital anomalies, developmental delay, and an array of early- and later-onset medical and psychiatric disorders. Advances in pediatric care ensure a growing population of adults with 22q11.2DS. Informed by an international panel of multidisciplinary experts and a comprehensive review of the existing literature concerning adults, we present the first set of guidelines focused on managing the neuropsychiatric, endocrine, cardiovascular, reproductive, psychosocial, genetic counseling, and other issues that are the focus of attention in adults with 22q11.2DS. We propose practical strategies for the recognition, evaluation, surveillance, and management of the associated morbidities.</p></div></front></TEI><affiliations><list><country><li>Belgique</li><li>Canada</li><li>Chili</li><li>Espagne</li><li>Pays-Bas</li><li>République populaire de Chine</li><li>États-Unis</li></country><region><li>Communauté de Madrid</li><li>Hollande-Septentrionale</li><li>Ontario</li><li>Pennsylvanie</li></region><settlement><li>Amsterdam</li><li>Madrid</li><li>Toronto</li></settlement><orgName><li>Université de Toronto</li></orgName></list><tree><country name="Canada"><noRegion><name sortKey="Fung, Wai Lun Alan" sort="Fung, Wai Lun Alan" uniqKey="Fung W" first="Wai Lun Alan" last="Fung">Wai Lun Alan Fung</name></noRegion><name sortKey="Andrade, Danielle M" sort="Andrade, Danielle M" uniqKey="Andrade D" first="Danielle M." last="Andrade">Danielle M. Andrade</name><name sortKey="Andrade, Danielle M" sort="Andrade, Danielle M" uniqKey="Andrade D" first="Danielle M." last="Andrade">Danielle M. Andrade</name><name sortKey="Bassett, Anne S" sort="Bassett, Anne S" uniqKey="Bassett A" first="Anne S." last="Bassett">Anne S. Bassett</name><name sortKey="Bassett, Anne S" sort="Bassett, Anne S" uniqKey="Bassett A" first="Anne S." last="Bassett">Anne S. Bassett</name><name sortKey="Bassett, Anne S" sort="Bassett, Anne S" uniqKey="Bassett A" first="Anne S." last="Bassett">Anne S. Bassett</name><name sortKey="Bassett, Anne S" sort="Bassett, Anne S" uniqKey="Bassett A" first="Anne S." last="Bassett">Anne S. Bassett</name><name sortKey="Bassett, Anne S" sort="Bassett, Anne S" uniqKey="Bassett A" first="Anne S." last="Bassett">Anne S. Bassett</name><name sortKey="Bassett, Anne S" sort="Bassett, Anne S" uniqKey="Bassett A" first="Anne S." last="Bassett">Anne S. Bassett</name><name sortKey="Bassett, Anne S" sort="Bassett, Anne S" uniqKey="Bassett A" first="Anne S." last="Bassett">Anne S. Bassett</name><name sortKey="Boot, Erik" sort="Boot, Erik" uniqKey="Boot E" first="Erik" last="Boot">Erik Boot</name><name sortKey="Boot, Erik" sort="Boot, Erik" uniqKey="Boot E" first="Erik" last="Boot">Erik Boot</name><name sortKey="Boot, Erik" sort="Boot, Erik" uniqKey="Boot E" first="Erik" last="Boot">Erik Boot</name><name sortKey="Boot, Erik" sort="Boot, Erik" uniqKey="Boot E" first="Erik" last="Boot">Erik Boot</name><name sortKey="Butcher, Nancy J" sort="Butcher, Nancy J" uniqKey="Butcher N" first="Nancy J." last="Butcher">Nancy J. Butcher</name><name sortKey="Butcher, Nancy J" sort="Butcher, Nancy J" uniqKey="Butcher N" first="Nancy J." last="Butcher">Nancy J. Butcher</name><name sortKey="Chow, Eva W C" sort="Chow, Eva W C" uniqKey="Chow E" first="Eva W. C." last="Chow">Eva W. C. Chow</name><name sortKey="Chow, Eva W C" sort="Chow, Eva W C" uniqKey="Chow E" first="Eva W. C." last="Chow">Eva W. C. Chow</name><name sortKey="Costain, Gregory" sort="Costain, Gregory" uniqKey="Costain G" first="Gregory" last="Costain">Gregory Costain</name><name sortKey="Costain, Gregory" sort="Costain, Gregory" uniqKey="Costain G" first="Gregory" last="Costain">Gregory Costain</name><name sortKey="Cytrynbaum, Cheryl" sort="Cytrynbaum, Cheryl" uniqKey="Cytrynbaum C" first="Cheryl" last="Cytrynbaum">Cheryl Cytrynbaum</name><name sortKey="Faghfoury, Hanna" sort="Faghfoury, Hanna" uniqKey="Faghfoury H" first="Hanna" last="Faghfoury">Hanna Faghfoury</name><name sortKey="Fishman, Leona" sort="Fishman, Leona" uniqKey="Fishman L" first="Leona" last="Fishman">Leona Fishman</name><name sortKey="Fung, Wai Lun Alan" sort="Fung, Wai Lun Alan" uniqKey="Fung W" first="Wai Lun Alan" last="Fung">Wai Lun Alan Fung</name><name sortKey="Fung, Wai Lun Alan" sort="Fung, Wai Lun Alan" uniqKey="Fung W" first="Wai Lun Alan" last="Fung">Wai Lun Alan Fung</name><name sortKey="Fung, Wai Lun Alan" sort="Fung, Wai Lun Alan" uniqKey="Fung W" first="Wai Lun Alan" last="Fung">Wai Lun Alan Fung</name><name sortKey="George, Susan" sort="George, Susan" uniqKey="George S" first="Susan" last="George">Susan George</name><name sortKey="George, Susan" sort="George, Susan" uniqKey="George S" first="Susan" last="George">Susan George</name><name sortKey="George, Susan" sort="George, Susan" uniqKey="George S" first="Susan" last="George">Susan George</name><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name><name sortKey="Shugar, Andrea" sort="Shugar, Andrea" uniqKey="Shugar A" first="Andrea" last="Shugar">Andrea Shugar</name><name sortKey="Silversides, Candice" sort="Silversides, Candice" uniqKey="Silversides C" first="Candice" last="Silversides">Candice Silversides</name><name sortKey="Silversides, Candice" sort="Silversides, Candice" uniqKey="Silversides C" first="Candice" last="Silversides">Candice Silversides</name><name sortKey="Silversides, Candice" sort="Silversides, Candice" uniqKey="Silversides C" first="Candice" last="Silversides">Candice Silversides</name></country><country name="Pays-Bas"><region name="Hollande-Septentrionale"><name sortKey="Boot, Erik" sort="Boot, Erik" uniqKey="Boot E" first="Erik" last="Boot">Erik Boot</name></region><name sortKey="Van Amelsvoort, Therese" sort="Van Amelsvoort, Therese" uniqKey="Van Amelsvoort T" first="Therese" last="Van Amelsvoort">Therese Van Amelsvoort</name></country><country name="République populaire de Chine"><noRegion><name sortKey="Chung, Brian" sort="Chung, Brian" uniqKey="Chung B" first="Brian" last="Chung">Brian Chung</name></noRegion></country><country name="Espagne"><region name="Communauté de Madrid"><name sortKey="Garcia Mi Aur, Sixto" sort="Garcia Mi Aur, Sixto" uniqKey="Garcia Mi Aur S" first="Sixto" last="García-Mi Aúr">Sixto García-Mi Aúr</name></region></country><country name="Chili"><noRegion><name sortKey="Repetto, Gabriela" sort="Repetto, Gabriela" uniqKey="Repetto G" first="Gabriela" last="Repetto">Gabriela Repetto</name></noRegion></country><country name="Belgique"><noRegion><name sortKey="Swillen, Ann" sort="Swillen, Ann" uniqKey="Swillen A" first="Ann" last="Swillen">Ann Swillen</name></noRegion><name sortKey="Swillen, Ann" sort="Swillen, Ann" uniqKey="Swillen A" first="Ann" last="Swillen">Ann Swillen</name></country><country name="États-Unis"><region name="Pennsylvanie"><name sortKey="Mcdonald Mcginn, Donna M" sort="Mcdonald Mcginn, Donna M" uniqKey="Mcdonald Mcginn D" first="Donna M." last="Mcdonald-Mcginn">Donna M. Mcdonald-Mcginn</name></region><name sortKey="Mcdonald Mcginn, Donna M" sort="Mcdonald Mcginn, Donna M" uniqKey="Mcdonald Mcginn D" first="Donna M." last="Mcdonald-Mcginn">Donna M. Mcdonald-Mcginn</name><name sortKey="Mcdonald Mcginn, Donna M" sort="Mcdonald Mcginn, Donna M" uniqKey="Mcdonald Mcginn D" first="Donna M." last="Mcdonald-Mcginn">Donna M. Mcdonald-Mcginn</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Canada/explor/ParkinsonCanadaV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000578 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 000578 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Canada
|area= ParkinsonCanadaV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= PMC:4526275
|texte= Practical guidelines for managing adults with 22q11.2 deletion syndrome
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i -Sk "pubmed:25569435" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd \
| NlmPubMed2Wicri -a ParkinsonCanadaV1
| This area was generated with Dilib version V0.6.29. |  |