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1. Full Text Clinical and neurocognitive issues associated with Bosch‐Boonstra‐Schaaf optic atrophy syndrome: A case study
by Bojanek, Erin K and Mosconi, Matthew W and Guter, Stephen and Betancur, Catalina and Macmillan, Carol and Cook, Edwin H
American journal of medical genetics. Part A, ISSN 1552-4825, 01/2020, Volume 182, Issue 1, pp. 213 - 218
NR2F1 | Bosch‐Boonstra‐Schaaf optic atrophy syndrome | cognitive discrepancy | autism | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Autism Spectrum Disorder - genetics | Developmental Disabilities - physiopathology | Genetic Predisposition to Disease | COUP Transcription Factor I - genetics | Humans | Optic Atrophy - physiopathology | Male | Developmental Disabilities - genetics | Intellectual Disability - genetics | Whole Exome Sequencing | Intellectual Disability - physiopathology | Young Adult | Phenotype | Adult | Female | Codon, Nonsense - genetics | Autism Spectrum Disorder - physiopathology | Optic Atrophy - genetics | Hypoplasia | Pattern formation | Optic nerve | Intelligence | Transcription | Cortex | Cognition | Neurogenesis | Hereditary diseases | Atrophy | Autism | Saccadic eye movements | Optic atrophy | Information processing | Index Medicus | Life Sciences | Human health and pathology | Neurons and Cognition | Psychology and behavior | Genetics | Human genetics | Psychiatrics and mental health
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2. Full Text Vocabulary comprehension in adults with fragile X syndrome (FXS)
by Hoffmann, Anne and Krause, Sue Ellen and Wuu, Joanne and Leurgans, Sue and Guter, Stephen J and Block, Sandra S and Salt, Jeff and Cook, Edwin and Maino, Dominick M and Berry-Kravis, Elizabeth
Journal of neurodevelopmental disorders, ISSN 1866-1947, 10/2019, Volume 11, Issue 1, pp. 25 - 25
Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Medical research | Autism | Medicine, Experimental | Adults | Fragile X syndrome | Batteries | Language skills | Language disorders | Intelligence | Language | Cognition & reasoning | Intellectual disabilities | Cognitive ability | Vocabulary development | Speech disorders | Age | Index Medicus | Vocabulary | Cognition | Research | Comprehension
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3. Full Text Lovastatin Treatment of a Patient with a De Novo SYNGAP1 Protein Truncating Variant
by Cook, Edwin H and Masaki, Jayson T and Guter, Stephen J and Najjar, Fedra
Journal of child and adolescent psychopharmacology, ISSN 1044-5463, 05/2019, Volume 29, Issue 4, pp. 321 - 322
Letter to the Editor | Pharmacology & Pharmacy | Pediatrics | Life Sciences & Biomedicine | Psychiatry | Science & Technology | Proteins | Autism | Brain | Social behavior | Restoration | Reciprocity | Cognitive ability | Lovastatin | Behavior
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4. Full Text Synaptic, transcriptional and chromatin genes disrupted in autism
by De Rubeis, Silvia and He, Xin and Goldberg, Arthur P and Poultney, Christopher S and Samocha, Kaitlin and Cicek, A. Ercument and Kou, Yan and Liu, Li and Fromer, Menachem and Walker, Susan and Singh, Tarjinder and Klei, Lambertus and Kosmicki, Jack and Fu, Shih-Chen and Aleksic, Branko and Biscaldi, Monica and Bolton, Patrick F and Brownfeld, Jessica M and Cai, Jinlu and Campbell, Nicholas G and Carracedo, Angel and Chahrour, Maria H and Chiocchetti, Andreas G and Coon, Hilary and Crawford, Emily L and Crooks, Lucy and Curran, Sarah R and Dawson, Geraldine and Duketis, Eftichia and Fernandez, Bridget A and Gallagher, Louise and Geller, Evan and Guter, Stephen J and Hill, R. Sean and Ionita-Laza, Iuliana and Gonzalez, Patricia Jimenez and Kilpinen, Helena and Klauck, Sabine M and Kolevzon, Alexander and Lee, Irene and Lei, Jing and Lehtimäki, Terho and Lin, Chiao-Feng and Ma'ayan, Avi and Marshall, Christian R and McInnes, Alison L and Neale, Benjamin and Owen, Michael J and Ozaki, Norio and Parellada, Mara and Parr, Jeremy R and Purcell, Shaun and Puura, Kaija and Rajagopalan, Deepthi and Rehnström, Karola and Reichenberg, Abraham and Sabo, Aniko and Sachse, Michael and Sanders, Stephan J and Schafer, Chad and Schulte-Rüther, Martin and Skuse, David and Stevens, Christine and Szatmari, Peter and Tammimies, Kristiina and Valladares, Otto and Voran, Annette and Wang, Li-San and Weiss, Lauren A and Willsey, A. Jeremy and Yu, Timothy W and Yuen, Ryan K. C and Cook, Edwin H and Freitag, Christine M and Gill, Michael and Hultman, Christina M and Lehner, Thomas and Palotie, Aarno and Schellenberg, Gerard D and Sklar, Pamela and State, Matthew W and Sutcliffe, James S and Walsh, Christopher A and Scherer, Stephen W and Zwick, Michael E and Barrett, Jeffrey C and Cutler, David J and Roeder, Kathryn and Devlin, Bernie and Daly, Mark J and Buxbaum, Joseph D and Homozygosity Mapping Collaborative and DDD Study and Autism Sequencing Consortium and UK10K Consortium and The Autism Sequencing Consortium and The DDD Study and Homozygosity Mapping Collaborative for Autism
Nature (London), ISSN 0028-0836, 11/2014, Volume 515, Issue 7526, pp. 209 - 215
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Gene mutations | Analysis | Pervasive developmental disorders | Research | Genetic transcription | Nucleotide sequencing | Health aspects | DNA sequencing | Studies | Autism | Neurosciences | Chromatin | Mutation | Genes | Index Medicus | Medicin och hälsovetenskap
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5. Full Text De novo unbalanced translocation (4p duplication/8p deletion) in a patient with autism, OCD, and overgrowth syndrome
by Sagar, Angela and Pinto, Dalila and Najjar, Fedra and Guter, Stephen J and Macmillan, Carol and Cook, Edwin H
American journal of medical genetics. Part A, ISSN 1552-4825, 06/2017, Volume 173, Issue 6, pp. 1656 - 1662
ADHD | 8p deletion | overgrowth syndrome | der t (4;8) | obsessive compulsive disorder | autism | 4p duplication | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Autism Spectrum Disorder - genetics | Chromosomes, Human, Pair 8 - genetics | Attention Deficit Disorder with Hyperactivity - physiopathology | Genetic Predisposition to Disease | Obsessive-Compulsive Disorder - physiopathology | Humans | Male | Wolf-Hirschhorn Syndrome - physiopathology | Autism Spectrum Disorder - pathology | Chromosomes, Human, Pair 4 - genetics | Obsessive-Compulsive Disorder - genetics | Attention Deficit Disorder with Hyperactivity - genetics | Karyotyping | Chromosome Aberrations | Adult | Wolf-Hirschhorn Syndrome - genetics | Translocation, Genetic - genetics | Cytogenetics | Autism | Obsessive-compulsive disorder | Chromosomes | Attention-deficit hyperactivity disorder | Medical genetics | Obsessive compulsive disorder | Breakpoints | Copy number | Hyperactivity | Attention deficit hyperactivity disorder | Genes | Chromosome deletion | Single-nucleotide polymorphism | Mental retardation | Chromosome translocations | DNA microarrays | Fragile X syndrome | Index Medicus | der t | 8 | Overgrowth Syndrome | Obsessive Compulsive Disorder
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6. Full Text Whole Blood Serotonin Levels and Platelet 5-HT2A Binding in Autism Spectrum Disorder
by Aaron, Elizabeth and Montgomery, Alicia and Ren, Xinguo and Guter, Stephen and Anderson, George and Carneiro, Ana M. D and Jacob, Suma and Mosconi, Matthew and Pandey, Ghanshyam N and Cook, Edwin and Veenstra-VanderWeele, Jeremy
Journal of autism and developmental disorders, ISSN 0162-3257, 6/2019, Volume 49, Issue 6, pp. 2417 - 2425
Pediatrics | Child and School Psychology | Neurosciences | Public Health | Biomarker | Serotonin | Hyperserotonemia | Receptor | Psychology | Autism spectrum disorder | Psychology, Developmental | Social Sciences | Autism | Blood platelets | Serotonin receptors | Serotonin S2 receptors | Platelets | Medical diagnosis | Biological markers | Blood
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7. Full Text ASD and genetic associations with receptors for oxytocin and vasopressin-AVPR1A, AVPR1B, and OXTR
by Francis, Sunday M and Kim, Soo-Jeong and Kistner-Griffin, Emily and Guter, Stephen and Cook, Edwin H and Jacob, Suma
Frontiers in neuroscience, ISSN 1662-4548, 2016, Volume 10, pp. 516 - 516
Neuropeptides | Receptors | Oxytocin | Vasopressin | Repetitive behaviors | Social behaviors | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Autism | Genetic aspects | Gene expression | Health aspects | Haplotypes | Phenotypes | Microsatellites | Peptides | Genes | Nervous system | Heredity | Single-nucleotide polymorphism | Research | Altruism | Independent sample | Studies | Social behavior | Behavior | Diagnosis | Psychiatry | Neuroscience | oxytocin | social behaviors | receptors | vasopressin | neuropeptides | repetitive behaviors | repetitive Behaviors
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8. Full Text Whole Blood Serotonin Levels and Platelet 5-HT.sub.2A Binding in Autism Spectrum Disorder
by Aaron, Elizabeth and Montgomery, Alicia and Ren, Xinguo and Guter, Stephen and Anderson, George and Carneiro, Ana M. D and Jacob, Suma
Journal of autism and developmental disorders, ISSN 0162-3257, 06/2019, Volume 49, Issue 6, p. 2417
Usage | Blood platelets | Serotonin | Pervasive developmental disorders | Regression analysis | Health aspects | Risk factors
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9. Full Text Variants in adjacent oxytocin/vasopressin gene region and associations with ASD diagnosis and other autism related endophenotypes
by Francis, Sunday M and Kistner-Griffin, Emily and Yan, Zhongyu and Guter, Stephen and Cook, Edwin H and Jacob, Suma
Frontiers in neuroscience, ISSN 1662-4548, 2016, Volume 10, Issue MAY, pp. 195 - 195
ASD | Phenotypes | Oxytocin | Biomarkers | IQ | Genetics | Polymorphisms | Vasopressin | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Genetic variation | Pervasive developmental disorders | Genetic aspects | Health aspects | Identification and classification | Plasma | Intelligence | Peptides | Genes | Menopause | Cognitive ability | Schizophrenia | Single-nucleotide polymorphism | Neurodevelopmental disorders | Social research | Behavior | Diagnosis | Chromosomes | Serotonin | Argipressin | Phenotypic variations | Genetic diversity | DNA nucleotidylexotransferase | Studies | Autism | Brain research | Researchers | Plasma levels | Psychiatry | oxytocin | genetics | phenotypes | biomarkers | vasopressin | polymorphisms
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