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

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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: Doja A; 1University of Ottawa,Ottawa,Canada., Orr SL; 1University of Ottawa,Ottawa,Canada., McMillan HJ; 1University of Ottawa,Ottawa,Canada., Kirton A; 5University of Calgary,Calgary,Canada., Brna P; 9Dalhousie University,Halifax,Nova Scotia., Esser M; 5University of Calgary,Calgary,Canada., Tang-Wai R; 6University of Edmonton,Edmonton,Alberta,Canada., Major P; 7University of Montreal,Montreal,Quebec,Canada., Poulin C; 8McGill University,Montreal,Quebec,Canada., Prasad N; 2Western University,London,Canada., Selby K; 10University of British Columbia,Vancouver,British Columbia,Canada., Weiss SK; 3University of Toronto,Toronto,Canada., Yeh EA; 3University of Toronto,Toronto,Canada., Callen DJ; 4McMaster University,Hamilton,Ontario,Canada.

المصدر: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques [Can J Neurol Sci] 2016 May; Vol. 43 (3), pp. 402-9. Date of Electronic Publication: 2016 Jan 20.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: published by Cambridge University Press for the Canadian Neurological Sciences Federation Country of Publication: England NLM ID: 0415227 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 0317-1671 (Print) Linking ISSN: 03171671 NLM ISO Abbreviation: Can J Neurol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Consensus* , Neurology*, Pediatricians/*supply & distribution, Canada ; Female ; Humans ; Male ; Surveys and Questionnaires ; Workforce

المؤلفون: Hanes I; McMaster University, Hamilton, Canada., Kozenko M; Division of Genetics, Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton, Canada., Callen DJ; Division of Pediatric Neurology, Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton, Canada. Electronic address: dcallen@mcmaster.ca.

المصدر: Pediatric neurology [Pediatr Neurol] 2015 Dec; Vol. 53 (6), pp. 535-40. Date of Electronic Publication: 2015 Sep 12.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Neurodegenerative Diseases*/genetics , Neurodegenerative Diseases*/pathology , Neurodegenerative Diseases*/physiopathology, Brain Stem/*pathology , Cerebellum/*pathology , Microcephaly/*genetics , Muscle Rigidity/*genetics , Nuclear Proteins/*genetics , Seizures/*genetics, Child, Preschool ; Female ; Humans ; Syndrome

المؤلفون: Whitney R; Division of Pediatric Neurology, Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton, Ontario, Canada. Electronic address: robyn.whitney@medportal.ca., Borys O; Division of Pediatric Neurology, Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton, Ontario, Canada., Callen DJ; Division of Pediatric Neurology, Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton, Ontario, Canada., Latchman A; Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton, Ontario, Canada.

المصدر: Pediatric neurology [Pediatr Neurol] 2015 Feb; Vol. 52 (2), pp. 214-7.e7. Date of Electronic Publication: 2014 Sep 28.

نوع المنشور: Journal Article; Validation Study

بيانات الدورية: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Pediatrics* , Surveys and Questionnaires*, Migraine Disorders/*diagnosis, Child ; Child, Preschool ; Female ; Humans ; Male ; Outcome Assessment, Health Care ; Prospective Studies ; Sensitivity and Specificity

المؤلفون: Whitney R; Division of Pediatric Neurology, Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton, Canada. robyn.whitney@medportal.ca, Callen DJ

المصدر: Pediatric neurology [Pediatr Neurol] 2013 Jul; Vol. 49 (1), pp. 61-3.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Urination*/physiology, Epilepsy, Reflex/*diagnosis , Seizures/*diagnosis, Anticonvulsants/therapeutic use ; Child ; Electroencephalography/methods ; Epilepsy, Reflex/drug therapy ; Epilepsy, Reflex/etiology ; Female ; Humans ; Seizures/drug therapy ; Seizures/etiology