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Wyszukujesz frazę ""Carter MT"" wg kryterium: Autor


Wyświetlanie 1-12 z 12
Tytuł:
Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder.
Autorzy:
Carter, MT
Nikkel, SM
Fernandez, BA
Marshall, CR
Noor, A
Lionel, AC
Prasad, A
Pinto, D
Joseph-George, AM
Noakes, C
Fairbrother-Davies, C
Roberts, W
Vincent, J
Weksberg, R
Scherer, SW
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Temat:
HUMAN chromosome abnormalities
AUTISM spectrum disorders
PYRIMIDINES
X-linked intellectual disabilities
DEHYDROGENASES
GENOMICS
LOCUS (Genetics)
Źródło:
Clinical Genetics; Nov2011, Vol. 80 Issue 5, p435-443, 9p, 1 Color Photograph, 1 Diagram, 1 Chart
Czasopismo naukowe
Tytuł:
Increased Myocardial Infarction Risk Following Herpes Zoster Infection.
Autorzy:
Parameswaran GI; Department of Infectious Diseases, Veterans Affairs Western New York Healthcare System, Buffalo, New York, USA.; Division of Infectious Diseases, Department of Medicine, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, State University of New York, Buffalo, New York, USA.
Drye AF; Department of Pharmacy, Veterans Affairs Western New York Healthcare System, Buffalo, New York, USA.
Wattengel BA; Department of Pharmacy, Veterans Affairs Western New York Healthcare System, Buffalo, New York, USA.
Carter MT; Department of Pharmacy, Veterans Affairs Western New York Healthcare System, Buffalo, New York, USA.
Doyle KM; Department of Pharmacy, Veterans Affairs Western New York Healthcare System, Buffalo, New York, USA.
Mergenhagen KA; Department of Pharmacy, Veterans Affairs Western New York Healthcare System, Buffalo, New York, USA.
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Źródło:
Open forum infectious diseases [Open Forum Infect Dis] 2023 Mar 25; Vol. 10 (4), pp. ofad137. Date of Electronic Publication: 2023 Mar 25 (Print Publication: 2023).
Typ publikacji:
Journal Article
Czasopismo naukowe
Tytuł:
Correction to: Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.
Autorzy:
Huang L; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
Warman-Chardon J; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
Carter MT; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, ON, Canada.
Friend KL; Department of Genetic Medicine, Women's and Children's Hospital, SA Pathology, North Adelaide, Australia.
Dudding TE; Hunter Genetics, Warratah, NSW, Australia.; University of Newcastle, Newcastle, NSW, Australia.
Schwartzentruber J; McGill University and Genome Quebec Innovation Centre, Montréal, QC, Canada.
Zou R; Ottawa Hospital Research Institute, University of Ottawa, Ottawa, ON, Canada.
Schofield PW; Centre for Translational Neuroscience and Mental Health, University of Newcastle, Newcastle, NSW, Australia.
Douglas S; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
Bulman DE; Ottawa Hospital Research Institute, University of Ottawa, Ottawa, ON, Canada.; Division of Neurology, Ottawa Hospital and University of Ottawa, Ottawa, ON, Canada.
Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada. .; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Mar 29; Vol. 17 (1), pp. 143. Date of Electronic Publication: 2022 Mar 29.
Typ publikacji:
Published Erratum
Tytuł:
Rehabilitation therapies in Rett syndrome across the lifespan: A scoping review of human and animal studies.
Autorzy:
Yang D; University of Calgary Cumming School of Medicine, Calgary, AB, Canada.
Robertson HL; Liaison Librarian, Clinical Medicine, Health Sciences Library, University of Calgary, Calgary, AB, Canada.
Condliffe EG; Departments of Clinical Neurosciences and Pediatrics, University of Calgary Cumming School of Medicine, Calgary, AB, Canada.
Carter MT; Department of Pediatrics, University of Ottawa, Ottawa, ON, Canada.
Dewan T; Department of Pediatrics, University of Calgary Cumming School of Medicine, Calgary, AB, Canada.
Gnanakumar V; Departments of Clinical Neurosciences and Pediatrics, University of Calgary Cumming School of Medicine, Calgary, AB, Canada.
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Źródło:
Journal of pediatric rehabilitation medicine [J Pediatr Rehabil Med] 2021; Vol. 14 (1), pp. 69-96.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Rett Syndrome*
Animals ; Humans ; Longevity
Czasopismo naukowe
Tytuł:
Cost-Effectiveness of Universal or High-Risk Screening Compared to Surveillance Monitoring in Autism Spectrum Disorder.
Autorzy:
Yuen T; Institute of Heath Policy, Management and Evaluation, University of Toronto, Toronto, Canada.; Program of Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, Canada.
Carter MT; Regional Genetics Program, Children's Hospital of Eastern Ontario, Ottawa, Canada.
Szatmari P; Institute of Heath Policy, Management and Evaluation, University of Toronto, Toronto, Canada.; Program of Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, Canada.; Centre for Addiction and Mental Health, Toronto, Canada.
Ungar WJ; Institute of Heath Policy, Management and Evaluation, University of Toronto, Toronto, Canada. .; Program of Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, Canada. .
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Źródło:
Journal of autism and developmental disorders [J Autism Dev Disord] 2018 Sep; Vol. 48 (9), pp. 2968-2979.
Typ publikacji:
Comparative Study; Journal Article
MeSH Terms:
Autism Spectrum Disorder/*diagnosis
Autism Spectrum Disorder/*economics
Cost-Benefit Analysis/*methods
Mass Screening/*economics
Mass Screening/*methods
Autism Spectrum Disorder/epidemiology ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Risk Factors ; United States/epidemiology
Czasopismo naukowe
Tytuł:
Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay.
Autorzy:
Uddin M; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics and Genome Biology (GGB), The Hospital for Sick Children, Toronto, Ontario, Canada.
Pellecchia G; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics and Genome Biology (GGB), The Hospital for Sick Children, Toronto, Ontario, Canada.
Thiruvahindrapuram B; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics and Genome Biology (GGB), The Hospital for Sick Children, Toronto, Ontario, Canada.
D'Abate L; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics and Genome Biology (GGB), The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
Merico D; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics and Genome Biology (GGB), The Hospital for Sick Children, Toronto, Ontario, Canada.
Chan A; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics and Genome Biology (GGB), The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
Zarrei M; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics and Genome Biology (GGB), The Hospital for Sick Children, Toronto, Ontario, Canada.
Tammimies K; Center of Neurodevelopmental Disorders (KIND), Neuropsychiatric Unit, Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.
Walker S; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics and Genome Biology (GGB), The Hospital for Sick Children, Toronto, Ontario, Canada.
Gazzellone MJ; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics and Genome Biology (GGB), The Hospital for Sick Children, Toronto, Ontario, Canada.
Nalpathamkalam T; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics and Genome Biology (GGB), The Hospital for Sick Children, Toronto, Ontario, Canada.
Yuen RK; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics and Genome Biology (GGB), The Hospital for Sick Children, Toronto, Ontario, Canada.
Devriendt K; Center for Human Genetics, University of Leuven, Leuven, Belgium.
Mathonnet G; CHU Sainte-Justine, University de Montreal, Montreal, Quebec, Canada.
Lemyre E; CHU Sainte-Justine, University de Montreal, Montreal, Quebec, Canada.
Nizard S; CHU Sainte-Justine, University de Montreal, Montreal, Quebec, Canada.
Shago M; Genome Diagnostics, Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
Joseph-George AM; Genome Diagnostics, Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
Noor A; Department of Pathology and Laboratory Medicine, Division of Diagnostic Medical Genetics, Mount Sinai Hospital, Toronto, Ontario, Canada.
Carter MT; Department of Genetics, The Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
Yoon G; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario M5G 2L3, Canada.
Kannu P; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario M5G 2L3, Canada.
Tihy F; CHU Sainte-Justine, University de Montreal, Montreal, Quebec, Canada.
Thorland EC; Cytogenetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
Marshall CR; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Genome Diagnostics, Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
Buchanan JA; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics and Genome Biology (GGB), The Hospital for Sick Children, Toronto, Ontario, Canada.
Speevak M; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
Stavropoulos DJ; Genome Diagnostics, Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
Scherer SW; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics and Genome Biology (GGB), The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; McLaughlin Centre, University of Toronto, Toronto, Ontario, Canada.
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Źródło:
Scientific reports [Sci Rep] 2016 Jul 01; Vol. 6, pp. 28663. Date of Electronic Publication: 2016 Jul 01.
Typ publikacji:
Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
MeSH Terms:
DNA Copy Number Variations*
Developmental Disabilities/*genetics
Genetic Predisposition to Disease/*genetics
Genome-Wide Association Study/*methods
Adaptor Proteins, Signal Transducing/genetics ; Adaptor Proteins, Signal Transducing/metabolism ; Adult ; Brain/embryology ; Brain/growth & development ; Brain/metabolism ; Cell Cycle Proteins/genetics ; Cell Cycle Proteins/metabolism ; Child ; Developmental Disabilities/metabolism ; Female ; Gene Expression Profiling/methods ; Gene Expression Regulation, Developmental ; Humans ; Male ; Proteomics/methods
Czasopismo naukowe
Tytuł:
Whole-genome sequencing of quartet families with autism spectrum disorder.
Autorzy:
Yuen RK; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Thiruvahindrapuram B; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Merico D; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Walker S; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Tammimies K; 1] The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada. [2] Department of Women's and Children's Health, Pediatric Neuropsychiatry Unit, Center of Neurodevelopmental Disorders at Karolinska Institutet (KIND), Karolinska Institutet, Stockholm, Sweden.
Hoang N; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Chrysler C; Department of Psychiatry and Behavioural Neurosciences, Offord Centre for Child Studies, McMaster University, Hamilton, Ontario, Canada.
Nalpathamkalam T; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Pellecchia G; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Liu Y; 1] The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada. [2] Jinan Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Shandong, China.
Gazzellone MJ; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
D'Abate L; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Deneault E; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Howe JL; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Liu RS; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Thompson A; Department of Psychiatry and Behavioural Neurosciences, Offord Centre for Child Studies, McMaster University, Hamilton, Ontario, Canada.
Zarrei M; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Uddin M; The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Marshall CR; 1] The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada. [2] Department of Molecular Genetics, Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
Ring RH; Autism Speaks, Princeton, New Jersey, USA.
Zwaigenbaum L; Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada.
Ray PN; Department of Molecular Genetics, Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
Weksberg R; 1] Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada. [2] Department of Paediatrics and Genetics and Genome Biology Program, The Hospital for Sick Children and Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada.
Carter MT; 1] Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada. [2] Autism Research Unit, The Hospital for Sick Children, Toronto, Ontario, Canada.
Fernandez BA; 1] Disciplines of Genetics and Medicine, Memorial University of Newfoundland, St. John's, Newfoundland, Canada. [2] Provincial Medical Genetic Program, Eastern Health, St. John's, Newfoundland, Canada.
Roberts W; Autism Research Unit, The Hospital for Sick Children, Toronto, Ontario, Canada.
Szatmari P; 1] Autism Research Unit, The Hospital for Sick Children, Toronto, Ontario, Canada. [2] Child Youth and Family Services, Centre for Addiction and Mental Health, Toronto, Ontario, Canada. [3] Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada.
Scherer SW; 1] The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada. [2] Department of Molecular Genetics and McLaughlin Centre, University of Toronto, Toronto, Ontario, Canada.
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Źródło:
Nature medicine [Nat Med] 2015 Feb; Vol. 21 (2), pp. 185-91. Date of Electronic Publication: 2015 Jan 26.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Parents*
Sequence Analysis, DNA*
Siblings*
Child Development Disorders, Pervasive/*genetics
Adult ; Child ; Female ; Genetic Predisposition to Disease ; Humans ; Male
Czasopismo naukowe
Tytuł:
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.
Autorzy:
McDonell LM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
Mirzaa GM
Alcantara D
Schwartzentruber J
Carter MT
Lee LJ
Clericuzio CL
Graham JM Jr
Morris-Rosendahl DJ
Polster T
Acsadi G
Townshend S
Williams S
Halbert A
Isidor B
David A
Smyser CD
Paciorkowski AR
Willing M
Woulfe J
Das S
Beaulieu CL
Marcadier J
Geraghty MT
Frey BJ
Majewski J
Bulman DE
Dobyns WB
O'Driscoll M
Boycott KM
Pokaż więcej
Corporate Authors:
FORGE Canada Consortium
Źródło:
Nature genetics [Nat Genet] 2013 May; Vol. 45 (5), pp. 556-62. Date of Electronic Publication: 2013 Mar 31.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Capillaries/*pathology
Developmental Disabilities/*genetics
Endosomal Sorting Complexes Required for Transport/*genetics
Epilepsy/*genetics
Microcephaly/*genetics
Mutation/*genetics
Skin Diseases/*genetics
Ubiquitin Thiolesterase/*genetics
Case-Control Studies ; Child, Preschool ; Cohort Studies ; Developmental Disabilities/pathology ; Endosomal Sorting Complexes Required for Transport/antagonists & inhibitors ; Endosomal Sorting Complexes Required for Transport/metabolism ; Epilepsy/pathology ; Exome/genetics ; Female ; Fluorescent Antibody Technique, Indirect ; Genes, Recessive ; Genome, Human ; Genotype ; Humans ; Infant ; Male ; Microcephaly/pathology ; RNA, Small Interfering/genetics ; Skin Diseases/pathology ; Syndrome ; Ubiquitin Thiolesterase/antagonists & inhibitors ; Ubiquitin Thiolesterase/metabolism
Czasopismo naukowe
Tytuł:
Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.
Autorzy:
Huang L; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
Chardon JW
Carter MT
Friend KL
Dudding TE
Schwartzentruber J
Zou R
Schofield PW
Douglas S
Bulman DE
Boycott KM
Pokaż więcej
Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2012 Sep 17; Vol. 7, pp. 67. Date of Electronic Publication: 2012 Sep 17.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Inositol 1,4,5-Trisphosphate Receptors/*genetics
Mutation, Missense/*genetics
Spinocerebellar Ataxias/*genetics
Female ; Genotype ; Humans ; Male ; Pedigree
Czasopismo naukowe
    Wyświetlanie 1-12 z 12

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