المؤلفون: Charlotte E. Butter, Caitlin L. Goldie, Jessica H. Hall, Kathy Leadbitter, Emma M.M. Burkitt, Marianne B.M. van den Bree, Jonathan M. Green

المصدر: BMC Psychology, Vol 12, Iss 1, Pp 1-11 (2024)

مصطلحات موضوعية: 16p11.2 deletion, 16p11.2 duplication, Qualitative, Children, Families, Neurodevelopmental, Psychology, BF1-990

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2050-7283Test

الوصول الحر: https://doaj.org/article/d05bc6fd32984de1bbdf8b04fb6592e2Test

المؤلفون: Fetit, Rana

المساهمون: Price, David, Johnstone, Mandy, Pratt, Thomas, Lawrie, Stephen, Theil, Thomas, Mason, John

مصطلحات موضوعية: IPSC, organoids, CNVs, autism, 16p11.2 deletion, interneurons

الوصول الحر: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.862525Test

المؤلفون: Anna Rusu, Claire Chevalier, Fabrice de Chaumont, Valérie Nalesso, Véronique Brault, Yann Hérault, Elodie Ey

المصدر: Frontiers in Behavioral Neuroscience, Vol 17 (2023)

مصطلحات موضوعية: autism, mouse model, 16p11.2 deletion, social behaviour, long-term monitoring, spontaneous behaviour, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fnbeh.2023.1294558/fullTest; https://doaj.org/toc/1662-5153Test

الوصول الحر: https://doaj.org/article/ab65c1a3e28648a1a08cc34a5d8bac8bTest

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: Joana Maria Almeida Osório, Borja Rodríguez-Herreros, David Romascano, Vincent Junod, Aline Habegger, Aurélie Pain, Sonia Richetin, Paola Yu, Bertrand Isidor, Lionel Van Maldergem, Linda Pons, Sabine Manificat, Nadia Chabane, Marine Jequier Gygax, Anne Manuela Maillard

المصدر: Molecular Autism, Vol 12, Iss 1, Pp 1-14 (2021)

مصطلحات موضوعية: Autism spectrum disorder (ASD), 16p11.2 deletion, Copy number variants (CNV), Sensory processing, Touch, Olfaction, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2040-2392Test

الوصول الحر: https://doaj.org/article/40a92ba0285b43ec91d64255f559f025Test

المؤلفون: Butter, Charlotte e., Goldie, Caitlin l., Hall, Jessica h., Leadbitter, Kathy, Burkitt, Emma m.m., Van den bree, Marianne b.m., Green, Jonathan m.

المصدر: Butter , C E , Goldie , C L , Hall , J H , Leadbitter , K , Burkitt , E M M , Van den bree , M B M & Green , J M 2024 , ' Experiences and concerns of parents of children with a 16p11.2 deletion or duplication diagnosis: a reflexive thematic analysis ' , BMC Psychology , vol. 12 , no. 1 . https://doi.org/10.1186/s40359-024-01609-9Test

مصطلحات موضوعية: 16p11.2 deletion, 16p11.2 duplication, Qualitative, Children, Families, Neurodevelopmental, Support, Experiences, Autism, Overshadowing

العلاقة: https://research.manchester.ac.uk/en/publications/9d83e6f2-0090-4bd4-8d48-1953a1c49bb9Test

الإتاحة: https://doi.org/10.1186/s40359-024-01609-9Test
https://research.manchester.ac.uk/en/publications/9d83e6f2-0090-4bd4-8d48-1953a1c49bb9Test

المؤلفون: Yang, Mu, Mahrt, Elena J, Lewis, Freeman, Foley, Gillian, Portmann, Thomas, Dolmetsch, Ricardo E, Portfors, Christine V, Crawley, Jacqueline N

المصدر: Autism Research. 8(5)

مصطلحات موضوعية: Brain Disorders, Basic Behavioral and Social Science, Autism, Behavioral and Social Science, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Mental Health, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Mental health, Animals, Autistic Disorder, Behavior, Animal, Chromosome Deletion, Chromosome Disorders, Chromosomes, Human, Pair 16, Disease Models, Animal, Intellectual Disability, Male, Mice, Social Behavior, Vocalization, Animal, mouse model of autism, 16p11.2 deletion, ultrasonic vocalization, social Interaction, autism, Clinical Sciences, Psychology, Developmental & Child Psychology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5609p7dtTest

المؤلفون: Jun Ju, Xiuyan Yang, Jian Jiang, Dilong Wang, Yumeng Zhang, Xiaofeng Zhao, Xiaoyi Fang, Huanquan Liao, Lei Zheng, Shupeng Li, Sheng-Tao Hou, Liyang Liang, Yihang Pan, Huiliang Li, Ningning Li

المصدر: Frontiers in Cellular Neuroscience, Vol 15 (2021)

مصطلحات موضوعية: autism spectrum disorder, 16p11.2 deletion, striatum, myelin, lipid metabolism, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fncel.2021.718720/fullTest; https://doaj.org/toc/1662-5102Test

الوصول الحر: https://doaj.org/article/49b274b630ae4c4c9beea11aa3de9fd4Test

المؤلفون: Hanson, Ellen, Bernier, Raphael, Porche, Ken, Jackson, Frank I, Goin-Kochel, Robin P, Snyder, LeeAnne Green, Snow, Anne V, Wallace, Arianne Stevens, Campe, Katherine L, Zhang, Yuan, Chen, Qixuan, D’Angelo, Debra, Moreno-De-Luca, Andres, Orr, Patrick T, Boomer, KB, Evans, David W, Kanne, Stephen, Berry, Leandra, Miller, Fiona K, Olson, Jennifer, Sherr, Elliot, Martin, Christa L, Ledbetter, David H, Spiro, John E, Chung, Wendy K, Consortium, on behalf of the Simons Variation in Individuals Project

المصدر: Biological Psychiatry. 77(9)

مصطلحات موضوعية: Clinical Research, Mental Health, Genetic Testing, Brain Disorders, Autism, Behavioral and Social Science, Pediatric, Genetics, Intellectual and Developmental Disabilities (IDD), Detection, screening and diagnosis, 4.2 Evaluation of markers and technologies, Mental health, Adolescent, Child, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 16, Cognition, Developmental Disabilities, Heterozygote, Humans, Intelligence, Mental Disorders, Phenotype, Young Adult, 16p11.2 Deletion, Autism spectrum disorder, Developmental disability, Psychiatric diagnosis, Simons Variation in Individuals Project Consortium, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/73m062wgTest