Fadi F. Hamdan Center of Excellence in Neuromics, CHU Sainte Justine and CHUM Notre-Dame Research Centers Universite de Montreal Biography Publications Institution JoVE Articles Fadi F. Hamdan has not added a biography. If you are Fadi F. Hamdan and would like to personalize this page please email our Author Liaison for assistance. Publications Identification of a Novel In-frame De Novo Mutation in SPTAN1 in Intellectual Disability and Pontocerebellar Atrophy European Journal of Human Genetics : EJHG. Jan, 2012 | Pubmed ID: 22258530 Truncating Mutations in NRXN2 and NRXN1 in Autism Spectrum Disorders and Schizophrenia Human Genetics. Oct, 2011 | Pubmed ID: 21424692 A Population Genetic Approach to Mapping Neurological Disorder Genes Using Deep Resequencing PLoS Genetics. Feb, 2011 | Pubmed ID: 21383861 Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability American Journal of Human Genetics. Mar, 2011 | Pubmed ID: 21376300 Intellectual Disability Without Epilepsy Associated with STXBP1 Disruption European Journal of Human Genetics : EJHG. May, 2011 | Pubmed ID: 21364700 De Novo SYNGAP1 Mutations in Nonsyndromic Intellectual Disability and Autism Biological Psychiatry. May, 2011 | Pubmed ID: 21237447 M3-muscarinic Receptor Promotes Insulin Release Via Receptor Phosphorylation/arrestin-dependent Activation of Protein Kinase D1 Proceedings of the National Academy of Sciences of the United States of America. Dec, 2010 | Pubmed ID: 21078968 De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment American Journal of Human Genetics. Nov, 2010 | Pubmed ID: 20950788 Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts American Journal of Human Genetics. Sep, 2010 | Pubmed ID: 20797689 De Novo Truncating Mutation in Kinesin 17 Associated with Schizophrenia Biological Psychiatry. Oct, 2010 | Pubmed ID: 20646681 De Novo Mutations in the Gene Encoding the Synaptic Scaffolding Protein SHANK3 in Patients Ascertained for Schizophrenia Proceedings of the National Academy of Sciences of the United States of America. Apr, 2010 | Pubmed ID: 20385823 [De Novo Mutations in SYNGAP1 Associated with Non-syndromic Mental Retardation] Médecine Sciences : M/S. Feb, 2010 | Pubmed ID: 20188038 De Novo STXBP1 Mutations in Mental Retardation and Nonsyndromic Epilepsy Annals of Neurology. Jun, 2009 | Pubmed ID: 19557857 No Association Between SRGAP3/MEGAP Haploinsufficiency and Mental Retardation Archives of Neurology. May, 2009 | Pubmed ID: 19433673 Neuronal M3 Muscarinic Acetylcholine Receptors Are Essential for Somatotroph Proliferation and Normal Somatic Growth Proceedings of the National Academy of Sciences of the United States of America. Apr, 2009 | Pubmed ID: 19332789 Mutations in SYNGAP1 in Autosomal Nonsyndromic Mental Retardation The New England Journal of Medicine. Feb, 2009 | Pubmed ID: 19196676 Novel De Novo SHANK3 Mutation in Autistic Patients American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. Apr, 2009 | Pubmed ID: 18615476 Mutations in the Calcium-related Gene IL1RAPL1 Are Associated with Autism Human Molecular Genetics. Dec, 2008 | Pubmed ID: 18801879 Metabolic Roles of the M3 Muscarinic Acetylcholine Receptor Studied with M3 Receptor Mutant Mice: a Review Journal of Receptor and Signal Transduction Research. 2008 | Pubmed ID: 18437633 Ligand-specific Changes in M3 Muscarinic Acetylcholine Receptor Structure Detected by a Disulfide Scanning Strategy Biochemistry. Mar, 2008 | Pubmed ID: 18247581 Unraveling G Protein-coupled Receptor Endocytosis Pathways Using Real-time Monitoring of Agonist-promoted Interaction Between Beta-arrestins and AP-2 The Journal of Biological Chemistry. Oct, 2007 | Pubmed ID: 17675294 Distinct Structural Changes in a G Protein-coupled Receptor Caused by Different Classes of Agonist Ligands The Journal of Biological Chemistry. Sep, 2007 | Pubmed ID: 17623649 Src-dependent Phosphorylation of Beta2-adaptin Dissociates the Beta-arrestin-AP-2 Complex Journal of Cell Science. May, 2007 | Pubmed ID: 17456551 Calcitonin Gene-related Peptide Analogues with Aza and Indolizidinone Amino Acid Residues Reveal Conformational Requirements for Antagonist Activity at the Human Calcitonin Gene-related Peptide 1 Receptor Journal of Medicinal Chemistry. Mar, 2007 | Pubmed ID: 17319653 Monitoring Protein-protein Interactions in Living Cells by Bioluminescence Resonance Energy Transfer (BRET) Current Protocols in Neuroscience / Editorial Board, Jacqueline N. Crawley ... [et Al.]. Feb, 2006 | Pubmed ID: 18428639 A Critical Role for Beta Cell M3 Muscarinic Acetylcholine Receptors in Regulating Insulin Release and Blood Glucose Homeostasis in Vivo Cell Metabolism. Jun, 2006 | Pubmed ID: 16753580 Use of an in Situ Disulfide Cross-linking Strategy to Study the Dynamic Properties of the Cytoplasmic End of Transmembrane Domain VI of the M3 Muscarinic Acetylcholine Receptor Biochemistry. Jan, 2006 | Pubmed ID: 16411743 High-throughput Screening of G Protein-coupled Receptor Antagonists Using a Bioluminescence Resonance Energy Transfer 1-based Beta-arrestin2 Recruitment Assay Journal of Biomolecular Screening. Aug, 2005 | Pubmed ID: 16093556 Identification of an Agonist-induced Conformational Change Occurring Adjacent to the Ligand-binding Pocket of the M(3) Muscarinic Acetylcholine Receptor The Journal of Biological Chemistry. Oct, 2005 | Pubmed ID: 16093246 Pronounced Conformational Changes Following Agonist Activation of the M(3) Muscarinic Acetylcholine Receptor The Journal of Biological Chemistry. Jul, 2005 | Pubmed ID: 15870064 Codon Optimization Improves Heterologous Expression of a Schistosoma Mansoni CDNA in HEK293 Cells Parasitology Research. Jun, 2002 | Pubmed ID: 12107483 Use of an in Situ Disulfide Cross-linking Strategy to Map Proximities Between Amino Acid Residues in Transmembrane Domains I and VII of the M3 Muscarinic Acetylcholine Receptor Biochemistry. Jun, 2002 | Pubmed ID: 12056896 A Schistosoma Mansoni Pad1 Homologue Stabilizes C-Jun Molecular and Biochemical Parasitology. Apr, 2002 | Pubmed ID: 11985875 A Novel Schistosoma Mansoni G Protein-coupled Receptor is Responsive to Histamine Molecular and Biochemical Parasitology. Jan, 2002 | Pubmed ID: 11755188 Conformational Changes That Occur During M3 Muscarinic Acetylcholine Receptor Activation Probed by the Use of an in Situ Disulfide Cross-linking Strategy The Journal of Biological Chemistry. Jan, 2002 | Pubmed ID: 11698401 En strategi för att identifiera de novo mutationer i vanliga sjukdomar som autism och schizofreni Gauthier Julie1, Fadi F. Hamdan2, Guy A. Rouleau3 1Centre of Excellence in Neuromics, CHUM Research Center and the Department of Medicine, Universite de Montreal, 2Center of Excellence in Neuromics, CHU Sainte Justine and CHUM Notre-Dame Research Centers, Universite de Montreal, 3Department of Medicine, Universite de Montreal JoVE 2534 의학
En strategi för att identifiera de novo mutationer i vanliga sjukdomar som autism och schizofreni Gauthier Julie1, Fadi F. Hamdan2, Guy A. Rouleau3 1Centre of Excellence in Neuromics, CHUM Research Center and the Department of Medicine, Universite de Montreal, 2Center of Excellence in Neuromics, CHU Sainte Justine and CHUM Notre-Dame Research Centers, Universite de Montreal, 3Department of Medicine, Universite de Montreal JoVE 2534 의학