المؤلفون: Cable, Jennifer, Purcell, Ryan H, Robinson, Elise, Vorstman, Jacob AS, Chung, Wendy K, Constantino, John N, Sanders, Stephan J, Sahin, Mustafa, Dolmetsch, Ricardo E, Shah, Bina Maniar, Thurm, Audrey, Martin, Christa L, Bearden, Carrie E, Mulle, Jennifer G

المصدر: Annals of the New York Academy of Sciences. 1506(1)

مصطلحات موضوعية: Pharmacology and Pharmaceutical Sciences, Biological Sciences, Biomedical and Clinical Sciences, Genetics, Human Genome, Intellectual and Developmental Disabilities (IDD), Autism, Pediatric, Mental Health, Neurosciences, Schizophrenia, Behavioral and Social Science, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Mental health, Congresses as Topic, Genetic Variation, Humans, Mental Disorders, Neurodevelopmental Disorders, Penetrance, Research Report, autism, autism heterogeneity, autism spectrum disorder, copy number variant, intellectual disability, neurodevelopmental disorders, neuropsychiatric disorders, polygenic risk score, rare variants, schizophrenia, 3q29 deletion, TSC, 16p11, deletion, 22q11, 16p11.2 deletion, 22q11.2 deletion, General Science & Technology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0gx8f83gTest

المؤلفون: Kim, So Hyun, Green‐Snyder, LeeAnne, Lord, Catherine, Bishop, Somer, Steinman, Kyle J, Bernier, Raphael, Hanson, Ellen, Goin‐Kochel, Robin P, Chung, Wendy K

المصدر: American Journal of Medical Genetics Part B Neuropsychiatric Genetics. 183(6)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Sciences, Neurosciences, Clinical Research, Behavioral and Social Science, Autism, Intellectual and Developmental Disabilities (IDD), Mental Health, Brain Disorders, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Mental health, Adolescent, Adult, Autism Spectrum Disorder, Autistic Disorder, Child, Child, Preschool, Chromosome Deletion, Chromosome Disorders, Chromosome Duplication, Chromosomes, Human, Pair 16, Cognitive Dysfunction, DNA Copy Number Variations, Family, Female, Heterozygote, Humans, Intellectual Disability, Language, Male, Middle Aged, Siblings, Speech, Verbal Behavior, Young Adult, 16p11, deletion, duplication, autism, genetics, language profiles, 16p11.2 deletion, 16p11.2 duplication, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6h67t169Test

المؤلفون: Ryan H. Purcell, Stephen Sanders, Audrey Thurm, Jennifer Cable, Mustafa Sahin, Jacob A. S. Vorstman, Christa Lese Martin, Bina Maniar Shah, Elise B. Robinson, Jennifer G. Mulle, Carrie E. Bearden, Wendy K. Chung, John N. Constantino, Ricardo E. Dolmetsch

المصدر: Annals of the New York Academy of Sciences, vol 1506, iss 1
Ann N Y Acad Sci

مصطلحات موضوعية: Research Report, 22q11.2 deletion, Autism, Penetrance, 16p11.2 deletion, Intellectual disability, 2.1 Biological and endogenous factors, 16p11, Copy-number variation, deletion, Aetiology, TSC, Pediatric, General Neuroscience, Mental Disorders, autism heterogeneity, neurodevelopmental disorders, Phenotype, 3q29 deletion, neuropsychiatric disorders, Mental Health, Autism spectrum disorder, Schizophrenia, intellectual disability, Identification (biology), General Science & Technology, Intellectual and Developmental Disabilities (IDD), autism spectrum disorder, Computational biology, Biology, Article, General Biochemistry, Genetics and Molecular Biology, History and Philosophy of Science, Behavioral and Social Science, medicine, Genetics, Humans, copy number variant, Genetic heterogeneity, Human Genome, Neurosciences, Genetic Variation, rare variants, Congresses as Topic, medicine.disease, Brain Disorders, 22q11, schizophrenia, Neurodevelopmental Disorders, polygenic risk score

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e7c8cbd0eb1cc9b44eeae84ff28a883Test
https://escholarship.org/uc/item/0gx8f83gTest

المؤلفون: Wendy K. Chung, Ellen Hanson, Raphael Bernier, Robin P. Goin-Kochel, Catherine Lord, Somer L. Bishop, Kyle J. Steinman, So Hyun Kim, LeeAnne Green-Snyder

المصدر: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, vol 183, iss 6
Am J Med Genet B Neuropsychiatr Genet

مصطلحات موضوعية: Male, Autism Spectrum Disorder, Autism, Chromosome Disorders, 16p11.2 deletion, Gene duplication, Chromosome Duplication, 2.1 Biological and endogenous factors, 16p11, Copy-number variation, deletion, Aetiology, Child, Genetics (clinical), Language, Pediatric, Middle Aged, Psychiatry and Mental health, Variation (linguistics), Mental Health, duplication, Autism spectrum disorder, Child, Preschool, Female, medicine.symptom, Chromosome Deletion, Psychology, Clinical psychology, Human, Adult, Heterozygote, Adolescent, DNA Copy Number Variations, Intellectual and Developmental Disabilities (IDD), Clinical Sciences, Semantics, Article, Chromosomes, Cellular and Molecular Neuroscience, Young Adult, 16p11.2 duplication, Clinical Research, Intellectual Disability, Behavioral and Social Science, medicine, Genetics, Humans, Speech, Family, Cognitive Dysfunction, Autistic Disorder, Preschool, Cognitive deficit, Syntax (programming languages), Pair 16, Verbal Behavior, Siblings, Neurosciences, language profiles, medicine.disease, Brain Disorders, Chromosomes, Human, Pair 16

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f35a7abe1b28d6f80a224a3cf4107fe9Test
https://escholarship.org/uc/item/6h67t169Test

المؤلفون: Pucilowska J., Vithayathil J., Pagani M., Kelly C., Karlo J. C., Robol C., Morella I., Gozzi A., Brambilla R., Landreth G. E.

المساهمون: Pucilowska, J., Vithayathil, J., Pagani, M., Kelly, C., Karlo, J. C., Robol, C., Morella, I., Gozzi, A., Brambilla, R., Landreth, G. E.

مصطلحات موضوعية: 16p11, Autism, Cortical development, ERK MAP kinase, Neurodevelopment

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29934348; volume:38; issue:30; firstpage:6640; lastpage:6652; numberofpages:13; journal:THE JOURNAL OF NEUROSCIENCE; http://hdl.handle.net/11571/1372720Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85051131177

الإتاحة: https://doi.org/10.1523/JNEUROSCI.0515-17.2018Test
http://hdl.handle.net/11571/1372720Test

المؤلفون: Pucilowska, Joanna, Vithayathil, Joseph, Pagani, Marco, Kelly, Caitlin, Karlo, J. Colleen, Robol, Camilla, Morella, Ilaria, Gozzi, Alessandro, Brambilla, Riccardo, Landreth, Gary E.

المساهمون: Anatomy and Cell Biology, School of Medicine

المصدر: Publisher

مصطلحات موضوعية: 16p11, autism, cortical development, ERK MAP kinases, neurodevelopment

وصف الملف: application/pdf

العلاقة: J. Neurosci.; Pucilowska, J., Vithayathil, J., Pagani, M., Kelly, C., Karlo, J. C., Robol, C., … Landreth, G. E. (2018). Pharmacological Inhibition of ERK Signaling Rescues Pathophysiology and Behavioral Phenotype Associated with 16p11.2 Chromosomal Deletion in Mice, 38(30), 6640–6652. https://doi.org/10.1523/JNEUROSCI.0515-17.2018Test; 0270-6474, 1529-2401; https://hdl.handle.net/1805/18669Test

الإتاحة: https://doi.org/10.1523/JNEUROSCI.0515-17.2018Test
https://hdl.handle.net/1805/18669Test