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Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.

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Title: Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.
Authors: de Kock L; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada., Cuillerier A; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada., Gillespie M; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., Couse M; The Centre for Computational Medicine, the Hospital for Sick Children (SickKids) Research Institute, Toronto, Ontario, Canada., Hartley T; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., Mears W; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., Bernier FP; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Department of Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada., Chudley AE; Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.; Department of Biochemistry and Medical Genetics, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada., Frosk P; Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.; Department of Biochemistry and Medical Genetics, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada., Nikkel SM; Provincial Medical Genetics Program, BC Women's Hospital, Vancouver, British Columbia, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada., Innes AM; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Department of Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada., Lauzon J; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Department of Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada., Thomas M; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Department of Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada., Guerin A; Division of Medical Genetics, Department of Pediatrics, Queen's University, Kingston, Ontario, Canada., Armour CM; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., Weksberg R; Division of Clinical and Metabolic Genetics, Department of Paediatrics and Genetics and Genome Biology Program, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.; Institute of Medical Sciences and Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada., Scott JN; Departments of Diagnostic Imaging and Clinical Neurosciences, University of Calgary, Calgary, Alberta, Canada., Watkins D; Northeastern Ontario Medical Genetics Program, Health Sciences North, Greater Sudbury, Ontario, Canada., Harvey S; Program of Genetics and Metabolism, Health Sciences Centre, Winnipeg, Manitoba, Canada., Cytrynbaum C; Division of Clinical and Metabolic Genetics, Department of Genetic Counselling and Genetics and Genome Biology Program, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada., Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada.; Newborn Screening Ontario, Ottawa, Ontario, Canada., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
Corporate Authors: Care4Rare Canada Consortium; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Mar; Vol. 194 (3), pp. e63466. Date of Electronic Publication: 2023 Nov 10.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: 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
Database: MEDLINE Ultimate
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  Data: Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.
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  Data: <searchLink fieldCode="AU" term="%22de+Kock+L%22">de Kock L</searchLink>; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Cuillerier+A%22">Cuillerier A</searchLink>; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Gillespie+M%22">Gillespie M</searchLink>; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Couse+M%22">Couse M</searchLink>; The Centre for Computational Medicine, the Hospital for Sick Children (SickKids) Research Institute, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Hartley+T%22">Hartley T</searchLink>; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Mears+W%22">Mears W</searchLink>; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Bernier+FP%22">Bernier FP</searchLink>; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Department of Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada.<br /><searchLink fieldCode="AU" term="%22Chudley+AE%22">Chudley AE</searchLink>; Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.; Department of Biochemistry and Medical Genetics, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.<br /><searchLink fieldCode="AU" term="%22Frosk+P%22">Frosk P</searchLink>; Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.; Department of Biochemistry and Medical Genetics, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.<br /><searchLink fieldCode="AU" term="%22Nikkel+SM%22">Nikkel SM</searchLink>; Provincial Medical Genetics Program, BC Women's Hospital, Vancouver, British Columbia, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.<br /><searchLink fieldCode="AU" term="%22Innes+AM%22">Innes AM</searchLink>; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Department of Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada.<br /><searchLink fieldCode="AU" term="%22Lauzon+J%22">Lauzon J</searchLink>; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Department of Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada.<br /><searchLink fieldCode="AU" term="%22Thomas+M%22">Thomas M</searchLink>; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Department of Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada.<br /><searchLink fieldCode="AU" term="%22Guerin+A%22">Guerin A</searchLink>; Division of Medical Genetics, Department of Pediatrics, Queen's University, Kingston, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Armour+CM%22">Armour CM</searchLink>; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Weksberg+R%22">Weksberg R</searchLink>; Division of Clinical and Metabolic Genetics, Department of Paediatrics and Genetics and Genome Biology Program, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.; Institute of Medical Sciences and Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Scott+JN%22">Scott JN</searchLink>; Departments of Diagnostic Imaging and Clinical Neurosciences, University of Calgary, Calgary, Alberta, Canada.<br /><searchLink fieldCode="AU" term="%22Watkins+D%22">Watkins D</searchLink>; Northeastern Ontario Medical Genetics Program, Health Sciences North, Greater Sudbury, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Harvey+S%22">Harvey S</searchLink>; Program of Genetics and Metabolism, Health Sciences Centre, Winnipeg, Manitoba, Canada.<br /><searchLink fieldCode="AU" term="%22Cytrynbaum+C%22">Cytrynbaum C</searchLink>; Division of Clinical and Metabolic Genetics, Department of Genetic Counselling and Genetics and Genome Biology Program, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Kernohan+KD%22">Kernohan KD</searchLink>; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada.; Newborn Screening Ontario, Ottawa, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Boycott+KM%22">Boycott KM</searchLink>; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2024 Mar; Vol. 194 (3), pp. e63466. <i>Date of Electronic Publication: </i>2023 Nov 10.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE
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