المؤلفون: Shuen AY., Lanni S, Panigrahi GB, Edwards M, Yu L, Campbell BB, Mandel A, Zhang C, Zhukova N, Alharbi M, Bernstein M, Bowers DC, Carroll S, Cole KA, Constantini S, Crooks B, Dvir R, FarahR, Hijiya N, George B, Laetsch TW, Larouche V, Lindhorst S, Luiten RC, Magimairajan V, Mason G, Masn W, Mondechai O, Mushtaq N, Nocholas G, Oren M, Palma L, Pedroza LA, Ramdas J, Smauel D, Wolfe Schneider K, Seeley A, Semotiuk K, Shamvil A, Sumerauer D, Toledano H, Tomboc P, Wierman M, VAN DAMME An

المساهمون: UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service d'hématologie et d'oncologie pédiatrique

المصدر: J Clin Oncol, no.4 (2019)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1493::181dad1a8b4b522271e2f2203098170d
https://hdl.handle.net/2078.1/212993

المؤلفون: Aref-Eshghi, E, Bend, EG, Hood, RL, Schenkel, LC, Carere, DA, Chakrabarti, R, Nagamani, SCS, Cheung, SW, Campeau, PM, Prasad, C, Siu, VM, Brady, L, Tarnopolsky, MA, Callen, DJ, Innes, AM, White, SM, Meschino, WS, Shuen, AY, Pare, G, Bulman, DE, Ainsworth, PJ, Lin, H, Rodenhiser, DI, Hennekam, RC, Boycott, KM, Schwartz, CE, Sadikovic, B

مصطلحات الفهرس: Journal Article

URL: http://hdl.handle.net/11343/253264

المؤلفون: Hartley T; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada; University of Ottawa, Ottawa, Canada. Electronic address: thartley@cheo.on.ca., Marshall D; University of Calgary, Calgary, Canada., Acker M; Hospital for Sick Children, Toronto, Canada., Fooks K; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada., Gillespie MK; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada., Price EM; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada., Graham ID; University of Ottawa, Ottawa, Canada; Ottawa Hospital Research Institute, Ottawa, Canada., White-Brown A; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada., MacKay L; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada., Macdonald SK; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada., Brady L; McMaster Children's Hospital, McMaster University, Hamilton, Canada., Hui AY; Kingston Health Sciences Center, Queen's University, Kingston, Canada., Andrews JD; London Health Sciences Centre, Western University, London, Canada., Chowdhury A; London Health Sciences Centre, Western University, London, Canada., Wall E; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada., Soubry É; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada., Ediae GU; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada., Rojas S; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada., Assamad D; University of Toronto, Toronto, Canada., Dyment D; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada., Tarnopolsky M; McMaster Children's Hospital, McMaster University, Hamilton, Canada., Sawyer SL; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada., Chisholm C; Children's Hospital of Eastern Ontario, Ottawa, Canada., Lemire G; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada; University of Ottawa, Ottawa, Canada., Amburgey K; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada., Lazier J; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada., Mendoza-Londono R; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada., Dowling JJ; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada., Balci TB; London Health Sciences Centre, Western University, London, Canada., Armour CM; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada., Bhola PT; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada., Costain G; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada., Dupuis L; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada., Carter M; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada., Badalato L; Kingston Health Sciences Center, Queen's University, Kingston, Canada., Richer J; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada., Boswell-Patterson C; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada., Kannu P; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada; The Ottawa Hospital, Ottawa, Canada., Cordeiro D; University of Toronto, Toronto, Canada., Warman-Chardon J; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada; Ottawa Hospital Research Institute, Ottawa, Canada; University of Alberta, Edmonton, Alberta, Canada., Graham G; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada., Siu VM; London Health Sciences Centre, Western University, London, Canada., Cytrynbaum C; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada., Rusnak A; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada; Kingston Health Sciences Center, Queen's University, Kingston, Canada., Aul RB; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada., Yoon G; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada., Gonorazky H; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada., McNiven V; University of Toronto, Toronto, Canada., Mercimek-Andrews S; University of Toronto, Toronto, Canada; University of Toronto, Toronto, Canada., Guerin A; Kingston Health Sciences Center, Queen's University, Kingston, Canada., Deshwar AR; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada., Marwaha A; University of Calgary, Calgary, Canada; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada; The Ottawa Hospital, Ottawa, Canada., Weksberg R; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada., Karp N; London Health Sciences Centre, Western University, London, Canada., Campbell M; Kingston Health Sciences Center, Queen's University, Kingston, Canada., Al-Qattan S; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada., Shuen AY; University of Toronto, Toronto, Canada; McMaster Children's Hospital, McMaster University, Hamilton, Canada; London Health Sciences Centre, Western University, London, Canada., Inbar-Feigenberg M; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada., Cohn R; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada., Szuto A; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada., Inglese C; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada., Poirier M; Children's Hospital of Eastern Ontario, Ottawa, Canada., Chad L; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada., Potter B; University of Ottawa, Ottawa, Canada; Ottawa Hospital Research Institute, Ottawa, Canada., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada; University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario, Ottawa, Canada., Hayeems R; Hospital for Sick Children, Toronto, Canada; University of Toronto, Toronto, Canada. Electronic address: robin.hayeems@sickkids.ca.

مؤلفون مشاركون: Care4Rare Canada Consortium

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Feb; Vol. 26 (2), pp. 101012. Date of Electronic Publication: 2023 Nov 01.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Rare Diseases*/diagnosis , Rare Diseases*/genetics , Exome*, Humans ; Prospective Studies ; Exome Sequencing ; Genetic Testing/methods ; Ontario

المؤلفون: Levitin MO; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Evox Therapeutics Limited, Oxford OX4 4HG, UK., Rawlins LE; RILD Wellcome Wolfson Medical Research Centre, University of Exeter, Exeter EX2 5DW, UK.; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Exeter EX1 2ED, UK., Sanchez-Andrade G; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Arshad OA; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Collins SC; INSERM Unit 1231, Université de Bourgogne Franche-Comté, Dijon 21078, France., Sawiak SJ; Behavioural and Clinical Neuroscience Institute, University of Cambridge, Cambridge CB2 3EB, UK.; Wolfson Brain Imaging Centre, Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 0QQ, UK., Iffland PH 2nd; Department of Neurology, University of Maryland School of Medicine, Baltimore, MD 21201, USA., Andersson MHL; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Bupp C; Spectrum Health, Helen DeVos Children's Hospital, Grand Rapids, MI 49503, USA., Cambridge EL; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Coomber EL; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Ellis I; Department of Clinical Genetics, Alder Hey Children's Hospital, Liverpool L14 5AB, UK., Herkert JC; Department of Genetics, University Medical Centre, University of Groningen, Groningen 9713 GZ, The Netherlands., Ironfield H; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Jory L; Haven Clinical Psychology Practice Ltd, Bude, Cornwall EX23 9HP, UK., Kretz PF; IGBMC, UMR7104, INSERM, Illkirch 67404, France., Kant SG; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam 3015 GD, The Netherlands.; Department of Clinical Genetics, Leiden University Medical Center, Leiden 2300 RC, The Netherlands., Neaverson A; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Open Targets, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Department of Genetics, University of Cambridge, Cambridge CB2 3EH, UK., Nibbeling E; Laboratory for Diagnostic Genome Analysis, Department of Clinical Genetics, Leiden University Medical Center, Leiden 3015 GD, The Netherlands., Rowley C; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Institute of Metabolic Science, Cambridge University, Cambridge CB2 0QQ, UK., Relton E; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Faculty of Health and Medical Science, University of Surrey, Guildford GU2 7YH, UK., Sanderson M; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Scott EM; New Leaf Center, Clinic for Special Children, Mount Eaton, OH 44659, USA., Stewart H; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Trust, Oxford OX3 7HE, UK., Shuen AY; London Health Sciences Centre, London, ON N6A 5W9, Canada.; Division of Medical Genetics, Department of Pediatrics, Schulich School of Medicine and Dentistry, Western University, London, ON N6A 5W9, Canada., Schreiber J; Department of Neurology, Children's National Medical Center, Washington DC 20007, USA., Tuck L; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Tonks J; Haven Clinical Psychology Practice Ltd, Bude, Cornwall EX23 9HP, UK., Terkelsen T; Department of Clinical Genetics, Aarhus University Hospital, Aarhus DK-8200, Denmark., van Ravenswaaij-Arts C; Department of Genetics, University Medical Centre, University of Groningen, Groningen 9713 GZ, The Netherlands., Vasudevan P; Department of Clinical Genetics, University Hospitals of Leicester, Leicester Royal Infirmary, Leicester LE1 7RH, UK., Wenger O; New Leaf Center, Clinic for Special Children, Mount Eaton, OH 44659, USA., Wright M; Institute of Human Genetics, International Centre for Life, Newcastle upon Tyne NE1 7RU, UK., Day A; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Qkine Ltd., Cambridge CB5 8HW, UK., Hunter A; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Patel M; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Lelliott CJ; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Institute of Metabolic Science, Cambridge University, Cambridge CB2 0QQ, UK., Crino PB; Department of Neurology, University of Maryland School of Medicine, Baltimore, MD 21201, USA., Yalcin B; INSERM Unit 1231, Université de Bourgogne Franche-Comté, Dijon 21078, France., Crosby AH; RILD Wellcome Wolfson Medical Research Centre, University of Exeter, Exeter EX2 5DW, UK., Baple EL; RILD Wellcome Wolfson Medical Research Centre, University of Exeter, Exeter EX2 5DW, UK.; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Exeter EX1 2ED, UK., Logan DW; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Waltham Petcare Science Institute, Waltham on the Wolds LE14 4RT, UK., Hurles ME; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Open Targets, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK., Gerety SS; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Open Targets, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.

المصدر: Brain : a journal of neurology [Brain] 2023 Nov 02; Vol. 146 (11), pp. 4766-4783.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

مواضيع طبية MeSH: Signal Transduction*/genetics , TOR Serine-Threonine Kinases*/metabolism, Humans ; Animals ; Mice ; Brain/metabolism ; Mechanistic Target of Rapamycin Complex 1/metabolism ; Cognition ; Microfilament Proteins/genetics

المؤلفون: Leon L, Shuen AY, Vizirakis M, McCord C

المصدر: Journal of the American Dental Association (1939) [J Am Dent Assoc] 2019 Sep; Vol. 150 (9), pp. 788-793. Date of Electronic Publication: 2019 Mar 18.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 7503060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1943-4723 (Electronic) Linking ISSN: 00028177 NLM ISO Abbreviation: J Am Dent Assoc Subsets: MEDLINE

مواضيع طبية MeSH: Palate, Hard* , Papilloma*, Humans ; Palate

المؤلفون: Shuen AY; 1 University of Toronto, Toronto, Ontario, Canada.; 2 The Hospital for Sick Children, Toronto, Ontario, Canada., Lanni S; 2 The Hospital for Sick Children, Toronto, Ontario, Canada., Panigrahi GB; 2 The Hospital for Sick Children, Toronto, Ontario, Canada., Edwards M; 2 The Hospital for Sick Children, Toronto, Ontario, Canada., Yu L; 2 The Hospital for Sick Children, Toronto, Ontario, Canada., Campbell BB; 1 University of Toronto, Toronto, Ontario, Canada.; 2 The Hospital for Sick Children, Toronto, Ontario, Canada., Mandel A; 2 The Hospital for Sick Children, Toronto, Ontario, Canada., Zhang C; 2 The Hospital for Sick Children, Toronto, Ontario, Canada., Zhukova N; 1 University of Toronto, Toronto, Ontario, Canada.; 2 The Hospital for Sick Children, Toronto, Ontario, Canada., Alharbi M; 3 King Fahad Medical City, Riyadh, Saudi Arabia., Bernstein M; 4 Dalhousie University Faculty of Medicine, Halifax, Nova Scotia, Canada., Bowers DC; 5 University of Texas Southwestern Medical Center, Dallas, TX.; 6 Children's Health, Dallas, TX., Carroll S; 7 Cleveland Clinic, Weston FL., Cole KA; 8 Children's Hospital of Philadelphia and University of Pennsylvania, Philadelphia, PA., Constantini S; 9 Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; 10 Tel Aviv University, Tel Aviv, Israel., Crooks B; 4 Dalhousie University Faculty of Medicine, Halifax, Nova Scotia, Canada., Dvir R; 10 Tel Aviv University, Tel Aviv, Israel.; 11 Schneider Children's Medical Center of Israel, Petach Tikva, Israel., Farah R; 12 Saint George Hospital University Medical Center, Beirut, Lebanon., Hijiya N; 13 Ann & Robert H. Lurie Children's Hospital/Northwestern University Feinberg School of Medicine, Chicago, IL., George B; 14 Medical College of Wisconsin, Milwaukee, WI., Laetsch TW; 5 University of Texas Southwestern Medical Center, Dallas, TX.; 6 Children's Health, Dallas, TX., Larouche V; 15 Université Laval, Quebec City, Quebec, Canada., Lindhorst S; 16 Medical University of South Carolina, Charleston, SC., Luiten RC; 17 Banner MD Anderson Cancer Center, Gilbert, AZ., Magimairajan V; 18 University of Manitoba, Winnipeg, Manitoba, Canada., Mason G; 19 Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center, Pittsburgh, PA., Mason W; 1 University of Toronto, Toronto, Ontario, Canada.; 20 Princess Margaret Cancer Centre, Toronto, Ontario, Canada., Mordechai O; 21 Rambam Health Care Campus, Haifa, Israel., Mushtaq N; 22 Aga Khan University Hospital, Karachi, Pakistan., Nicholas G; 23 Ottawa Hospital Research Institute, Ottawa, Ontario, Canada., Oren M; 24 Sheba Medical Center, Tel Hashomer, Israel., Palma L; 25 McGill University Health Centre, Montréal, Quebec, Canada., Pedroza LA; 26 Baylor College of Medicine and Texas Children's Hospital, Houston, TX.; 27 Universidad San Francisco de Quito, Quito, Ecuador., Ramdas J; 28 Geisinger Medical Center, Danville, PA., Samuel D; 29 Valley Children's Hospital, Madera, CA., Wolfe Schneider K; 30 Children's Hospital Colorado, Aurora, CO.; 31 University of Colorado, Anschutz Medical Campus, Aurora, CO., Seeley A; 28 Geisinger Medical Center, Danville, PA., Semotiuk K; 32 Mount Sinai Hospital, Toronto, Ontario, Canada., Shamvil A; 33 Children Cancer Hospital, Karachi, Pakistan., Sumerauer D; 34 University Hospital Motol, Charles University, Prague, Czech Republic., Toledano H; 11 Schneider Children's Medical Center of Israel, Petach Tikva, Israel., Tomboc P; 35 Ruby Memorial Hospital, Morgantown, WV., Wierman M; 31 University of Colorado, Anschutz Medical Campus, Aurora, CO., Van Damme A; 36 Université Catholique de Louvain, Brussels, Belgium., Lee YY; 37 Taipei Veterans General Hospital, Taipei, Republic of China., Zapotocky M; 1 University of Toronto, Toronto, Ontario, Canada.; 2 The Hospital for Sick Children, Toronto, Ontario, Canada.; 34 University Hospital Motol, Charles University, Prague, Czech Republic., Bouffet E; 1 University of Toronto, Toronto, Ontario, Canada.; 2 The Hospital for Sick Children, Toronto, Ontario, Canada., Durno C; 2 The Hospital for Sick Children, Toronto, Ontario, Canada.; 32 Mount Sinai Hospital, Toronto, Ontario, Canada., Aronson M; 32 Mount Sinai Hospital, Toronto, Ontario, Canada., Gallinger S; 32 Mount Sinai Hospital, Toronto, Ontario, Canada.; 38 Toronto General Hospital, Toronto, Ontario, Canada., Foulkes WD; 39 McGill University, Montréal, Quebec, Canada., Malkin D; 1 University of Toronto, Toronto, Ontario, Canada.; 2 The Hospital for Sick Children, Toronto, Ontario, Canada., Tabori U; 1 University of Toronto, Toronto, Ontario, Canada.; 2 The Hospital for Sick Children, Toronto, Ontario, Canada., Pearson CE; 1 University of Toronto, Toronto, Ontario, Canada.; 2 The Hospital for Sick Children, Toronto, Ontario, Canada.

المصدر: Journal of clinical oncology : official journal of the American Society of Clinical Oncology [J Clin Oncol] 2019 Feb 20; Vol. 37 (6), pp. 461-470. Date of Electronic Publication: 2019 Jan 04.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Society of Clinical Oncology Country of Publication: United States NLM ID: 8309333 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1527-7755 (Electronic) Linking ISSN: 0732183X NLM ISO Abbreviation: J Clin Oncol Subsets: MEDLINE

مواضيع طبية MeSH: DNA Mismatch Repair* , Genetic Testing* , Mutation*, Biomarkers, Tumor/*genetics , Brain Neoplasms/*diagnosis , Brain Neoplasms/*genetics , Colorectal Neoplasms/*diagnosis , Colorectal Neoplasms/*genetics , DNA Repair Enzymes/*genetics , Neoplastic Syndromes, Hereditary/*diagnosis , Neoplastic Syndromes, Hereditary/*genetics, Biomarkers, Tumor/metabolism ; Brain Neoplasms/metabolism ; Case-Control Studies ; Cell Line, Tumor ; Colorectal Neoplasms/metabolism ; DNA Repair Enzymes/metabolism ; DNA-Binding Proteins/genetics ; DNA-Binding Proteins/metabolism ; Genetic Predisposition to Disease ; Humans ; Mismatch Repair Endonuclease PMS2/genetics ; Mismatch Repair Endonuclease PMS2/metabolism ; MutL Protein Homolog 1/genetics ; MutL Protein Homolog 1/metabolism ; MutS Homolog 2 Protein/genetics ; MutS Homolog 2 Protein/metabolism ; Neoplastic Syndromes, Hereditary/metabolism ; Phenotype ; Predictive Value of Tests

SCR Disease Name: Turcot syndrome

المؤلفون: Aref-Eshghi E; Department of Pathology and Laboratory Medicine, Western University, London, N6A 5W9, ON, Canada.; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, N6A 5W9, ON, Canada., Bend EG; Prevention Genetics, Marshfield, 54449, WI, USA., Hood RL; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, K1H 8L1, ON, Canada., Schenkel LC; Department of Pathology and Laboratory Medicine, Western University, London, N6A 5W9, ON, Canada.; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, N6A 5W9, ON, Canada., Carere DA; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, N6A 5W9, ON, Canada., Chakrabarti R; Children's Health Research Institute, London, N6A 5W9, ON, Canada., Nagamani SCS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 77030, TX, USA., Cheung SW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 77030, TX, USA., Campeau PM; Department of Pediatrics, University of Montreal, Montreal, H3C 3J7, QC, Canada., Prasad C; Children's Health Research Institute, London, N6A 5W9, ON, Canada., Siu VM; Children's Health Research Institute, London, N6A 5W9, ON, Canada., Brady L; Department of Pediatrics, McMaster University, Hamilton, L8P 1A2, ON, Canada., Tarnopolsky MA; Department of Pediatrics, McMaster University, Hamilton, L8P 1A2, ON, Canada., Callen DJ; Department of Pediatrics, McMaster University, Hamilton, L8P 1A2, ON, Canada., Innes AM; Department of Medical Genetics, Alberta Children's Hospital Research Institute for Child and Maternal Health, University of Calgary, Calgary, T3B 6A8, AB, Canada., White SM; Department of Paediatrics, University of Melbourne, Melbourne, 3052, VIC, Australia., Meschino WS; Genetics Program, North York General Hospital, Toronto, M2K 1E1, ON, Canada., Shuen AY; Children's Health Research Institute, London, N6A 5W9, ON, Canada., Paré G; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, L8P 1A2, ON, Canada., Bulman DE; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, K1H 8L1, ON, Canada., Ainsworth PJ; Department of Pathology and Laboratory Medicine, Western University, London, N6A 5W9, ON, Canada.; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, N6A 5W9, ON, Canada., Lin H; Department of Pathology and Laboratory Medicine, Western University, London, N6A 5W9, ON, Canada.; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, N6A 5W9, ON, Canada., Rodenhiser DI; Children's Health Research Institute, London, N6A 5W9, ON, Canada.; Department of Pediatrics, Biochemistry and Oncology, Western University, London, N6A 5W9, ON, Canada., Hennekam RC; Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, 1012 WX, The Netherlands., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, K1H 8L1, ON, Canada., Schwartz CE; Greenwood Genetic Center, Greenwood, 29646, SC, USA., Sadikovic B; Department of Pathology and Laboratory Medicine, Western University, London, N6A 5W9, ON, Canada. Bekim.Sadikovic@lhsc.on.ca.; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, N6A 5W9, ON, Canada. Bekim.Sadikovic@lhsc.on.ca.

المصدر: Nature communications [Nat Commun] 2018 Nov 20; Vol. 9 (1), pp. 4885. Date of Electronic Publication: 2018 Nov 20.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: DNA Methylation*, Abnormalities, Multiple/*genetics , Chromosomal Proteins, Non-Histone/*genetics , Transcription Factors/*genetics, Abnormalities, Multiple/diagnosis ; Chromatin Assembly and Disassembly ; DNA Helicases/genetics ; DNA-Binding Proteins/genetics ; Epigenesis, Genetic ; Epigenomics ; Face/abnormalities ; Facies ; Foot Deformities, Congenital/diagnosis ; Foot Deformities, Congenital/genetics ; Hand Deformities, Congenital/diagnosis ; Hand Deformities, Congenital/genetics ; Humans ; Hypotrichosis/diagnosis ; Hypotrichosis/genetics ; Intellectual Disability/diagnosis ; Intellectual Disability/genetics ; Micrognathism/diagnosis ; Micrognathism/genetics ; Mutation ; Neck/abnormalities ; Nuclear Proteins/genetics ; SMARCB1 Protein/genetics ; Syndrome

SCR Disease Name: Coffin-Siris syndrome; Nicolaides Baraitser syndrome

المؤلفون: Guarnieri V; Medical Genetics, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy. v.guarnieri@operapadrepio.it., Seaberg RM; Department of Otolaryngology - Head and Neck Surgery, University of Toronto, Toronto, ON, Canada., Kelly C; Department of Medicine, University of Toronto, Toronto, ON, Canada.; Division of Endocrinology, Women's College Hospital, Toronto, ON, Canada., Jean Davidson M; Department of Otolaryngology, Head & Neck Surgery, Sunnybrook Health Sciences Centre, Toronto, ON, Canada., Raphael S; Department of Anatomic Pathology, Sunnybrook Health Sciences Centre, Toronto, ON, Canada., Shuen AY; Departments of Laboratory Medicine and Pathobiology, Medicine and Genetics, University of Toronto, Toronto, ON, Canada., Baorda F; Medical Genetics, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy., Palumbo O; Medical Genetics, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy., Scillitani A; Endocrinology, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy., Hendy GN; Metabolic Disorders and Complications, McGill University Health Centre-Research Institute, Montreal, QC, Canada.; Departments of Medicine, Physiology and Human Genetics, McGill University, Montreal, QC, Canada., Cole DEC; Departments of Laboratory Medicine and Pathobiology, Medicine and Genetics, University of Toronto, Toronto, ON, Canada.

المصدر: BMC medical genetics [BMC Med Genet] 2017 Sep 13; Vol. 18 (1), pp. 99. Date of Electronic Publication: 2017 Sep 13.

نوع المنشور: Journal Article; Published Erratum

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med Genet Subsets: PubMed not MEDLINE

المؤلفون: Guarnieri V; Medical Genetics, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy. v.guarnieri@operapadrepio.it., Seaberg RM; Department of Otolaryngology - Head and Neck Surgery, University of Toronto, Toronto, ON, Canada., Kelly C; Department of Medicine, University of Toronto, Toronto, ON, Canada.; Division of Endocrinology, Women's College Hospital, Toronto, ON, Canada., Jean Davidson M; Department of Otolaryngology, Head & Neck Surgery, Sunnybrook Health Sciences Centre, Toronto, ON, Canada., Raphael S; Department of Anatomic Pathology, Sunnybrook Health Sciences Centre, Toronto, ON, Canada., Shuen AY; Departments of Laboratory Medicine and Pathobiology, Medicine and Genetics, University of Toronto, Toronto, ON, Canada., Baorda F; Medical Genetics, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy., Palumbo O; Medical Genetics, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy., Scillitani A; Endocrinology, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy., Hendy GN; Metabolic Disorders and Complications, McGill University Health Centre-Research Institute, Montreal, QC, Canada.; Departments of Medicine, Physiology and Human Genetics, McGill University, Montreal, QC, Canada., Cole DEC; Departments of Laboratory Medicine and Pathobiology, Medicine and Genetics, University of Toronto, Toronto, ON, Canada.

المصدر: BMC medical genetics [BMC Med Genet] 2017 Aug 03; Vol. 18 (1), pp. 83. Date of Electronic Publication: 2017 Aug 03.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Sequence Deletion*, Adenoma/*genetics , Fibroma/*genetics , Hyperparathyroidism/*genetics , Jaw Neoplasms/*genetics , Tumor Suppressor Proteins/*genetics, 5' Untranslated Regions ; Adenoma/pathology ; Adolescent ; Adult ; Alleles ; Animals ; Base Sequence ; Child ; DNA/chemistry ; DNA/isolation & purification ; DNA/metabolism ; DNA Copy Number Variations ; Exons ; Female ; Fibroma/pathology ; Genetic Testing ; HEK293 Cells ; Humans ; Hyperparathyroidism/pathology ; Jaw Neoplasms/pathology ; Leukocytes/metabolism ; Male ; Middle Aged ; Pedigree ; Sequence Alignment ; Tumor Suppressor Proteins/metabolism ; Young Adult

SCR Disease Name: Hyperparathyroidism 2

المؤلفون: Coughlin CR 2nd; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, CO, United States., van Karnebeek CD; Division of Biochemical Diseases &Treatable Intellectual Disability Endeavour in British Columbia (TIDE-BC), Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada., Al-Hertani W; Department of Medical Genetics, Montreal Children's Hospital, McGill University of Health Centre, Montreal, QC, Canada., Shuen AY; Department of Medical Genetics, Montreal Children's Hospital, McGill University of Health Centre, Montreal, QC, Canada., Jaggumantri S; Division of Biochemical Diseases &Treatable Intellectual Disability Endeavour in British Columbia (TIDE-BC), Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada., Jack RM; Department of Laboratory Medicine, Seattle Children's Hospital Laboratory, Seattle, WA, United States., Gaughan S; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, CO, United States., Burns C; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, CO, United States., Mirsky DM; Department of Radiology, University of Colorado, Aurora, CO, United States., Gallagher RC; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, CO, United States., Van Hove JL; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, CO, United States. Electronic address: Johan.Vanhove@childrenscolorado.org.

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2015 Sep-Oct; Vol. 116 (1-2), pp. 35-43. Date of Electronic Publication: 2015 May 23.

نوع المنشور: Case Reports; Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't; Review

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

مواضيع طبية MeSH: Amino Acids/*therapeutic use , Arginine/*therapeutic use , Epilepsy/*drug therapy , Lysine/*therapeutic use , Neurodevelopmental Disorders/*drug therapy , Pyridoxine/*therapeutic use , Vitamin B Complex/*therapeutic use, Brain/metabolism ; Brain/pathology ; Cerebrospinal Fluid/metabolism ; Diet Therapy ; Dietary Supplements ; Drug Therapy, Combination ; Epilepsy/blood ; Epilepsy/urine ; Female ; Humans ; Infant ; Infant, Newborn ; Magnetic Resonance Imaging ; Male ; Retrospective Studies

SCR Disease Name: Pyridoxine-dependent epilepsy