المؤلفون: Eisfeldt, Jesper, Schuy, Jakob, Stattin, Eva-Lena, Kvarnung, Malin, Falk, Anna, Feuk, Lars, Lindstrand, Anna

المصدر: International Journal of Molecular Sciences StemTherapy: National Initiative on Stem Cells for Regenerative Therapy. 23(16)

مصطلحات موضوعية: Autistic Disorder/genetics, Chromosome Mapping, Epilepsy/genetics, Humans, Osteoporosis/genetics, Protein Serine-Threonine Kinases/genetics, Translocation, Genetic, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Cell- och molekylärbiologi, Medical and Health Sciences, Basic Medicine, Cell and Molecular Biology

الوصول الحر: https://lup.lub.lu.se/record/1f0fa34b-aa3b-4959-b96a-97c9305cbc38Test
http://dx.doi.org/10.3390/ijms23169392Test

المؤلفون: Rolland, Thomas, Cliquet, Freddy, Anney, Richard J.L., Moreau, Clara, Traut, Nicolas, Mathieu, Alexandre, Huguet, Guillaume, Duan, Jinjie, Warrier, Varun, Portalier, Swan, Dry, Louise, Leblond, Claire S., Douard, Elise, Amsellem, Frédérique, Malesys, Simon, Maruani, Anna, Toro, Roberto, Børglum, Anders D., Grove, Jakob, Baron-Cohen, Simon, Packer, Alan, Chung, Wendy K., Jacquemont, Sébastien, Delorme, Richard, Bourgeron, Thomas

المصدر: Rolland , T , Cliquet , F , Anney , R J L , Moreau , C , Traut , N , Mathieu , A , Huguet , G , Duan , J , Warrier , V , Portalier , S , Dry , L , Leblond , C S , Douard , E , Amsellem , F , Malesys , S , Maruani , A , Toro , R , Børglum , A D , Grove , J , Baron-Cohen , S , Packer , A , Chung , W K , Jacquemont , S , Delorme , ....

مصطلحات موضوعية: Autism Spectrum Disorder, Autistic Disorder/genetics, Brain, Heterozygote, Humans, Phenotype

العلاقة: https://pure.au.dk/portal/en/publications/657cf817-5e69-431c-849f-9f0cff923184Test

الإتاحة: https://doi.org/10.1038/s41591-023-02408-2Test
https://pure.au.dk/portal/en/publications/657cf817-5e69-431c-849f-9f0cff923184Test
http://www.scopus.com/inward/record.url?scp=85162991079&partnerID=8YFLogxKTest

المؤلفون: Woelfle, Sarah, Pedro, Maria T, Wagner, Jan, Schön, Michael, Böckers, Tobias

المصدر: BMC biology 21(1), 254 (2023). doi:10.1186/s12915-023-01712-0

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Nerve Tissue Proteins: genetics, Humans, Male, Mice, Animals, Autistic Disorder: genetics, Phylogeny, Hippocampus: metabolism, Brain: metabolism, Protein Isoforms: metabolism, SHANK2 protein, human, Autism spectrum disorders, Brain regions, Post mortem human brain, Protein expression, SHANK2, SHANK3, Protein Isoforms, SHANK3 protein, Nerve Tissue Proteins

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/issn/1741-7007; info:eu-repo/semantics/altIdentifier/pmid/pmid:37953224; https://pub.dzne.de/record/265945Test; https://pub.dzne.de/search?p=id:%22DZNE-2023-01068%22Test

الإتاحة: https://doi.org/10.1186/s12915-023-01712-0Test
https://pub.dzne.de/record/265945Test
https://pub.dzne.de/search?p=id:%22DZNE-2023-01068%22Test

المؤلفون: Atanasova, Ekaterina, Arévalo, Andrea Pérez, Graf, Ines, Zhang, Rong, Bockmann, Juergen, Lutz, Anne-Kathrin, Böckers, Tobias

المصدر: Molecular autism 14(1), 1 (2023). doi:10.1186/s13229-022-00532-3

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Female, Pregnancy, Mice, Animals, Autism Spectrum Disorder: genetics, Behavior, Animal: physiology, Autistic Disorder: genetics, Social Behavior, Synapses, Disease Models, Animal, Microfilament Proteins, Nerve Tissue Proteins: genetics, Shank3 protein, mouse, ASD, MIA, Poly I:C, Postsynaptic density, SHANK3, Two-hit, Nerve Tissue Proteins

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/issn/2040-2392; info:eu-repo/semantics/altIdentifier/pmid/pmid:36604742; https://pub.dzne.de/record/169281Test; https://pub.dzne.de/search?p=id:%22DZNE-2023-00119%22Test

الإتاحة: https://doi.org/10.1186/s13229-022-00532-3Test
https://pub.dzne.de/record/169281Test
https://pub.dzne.de/search?p=id:%22DZNE-2023-00119%22Test

المؤلفون: Olde Heuvel, Florian, Ouali Alami, Najwa, Schön, Michael, Jain, Sanjay, Grabrucker, Stefanie, Ludolph, Albert, Verpelli, Chiara, Michaelis, Jens, Boeckers, Tobias M, Roselli, Francesco, Aousji, Oumayma, Pogatzki-Zahn, Esther, Zahn, Peter K, Wilhelm, Hanna, Deshpande, Dhruva, Khatamsaz, Elmira, Catanese, Alberto, Woelfle, Sarah

المصدر: Molecular autism 14(1), 21 (2023). doi:10.1186/s13229-023-00552-7

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Female, Humans, Male, Animals, Mice, Autistic Disorder: genetics, Nociception, Neurons, Interneurons, Pain, Nerve Tissue Proteins: genetics, Autism spectrum disorder, Glycinergic interneurons, Shank2, Spinal cord, Shank2 protein, mouse, Nerve Tissue Proteins

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/issn/2040-2392; info:eu-repo/semantics/altIdentifier/pmid/pmid:37316943; https://pub.dzne.de/record/258664Test; https://pub.dzne.de/search?p=id:%22DZNE-2023-00637%22Test

الإتاحة: https://doi.org/10.1186/s13229-023-00552-7Test
https://pub.dzne.de/record/258664Test
https://pub.dzne.de/search?p=id:%22DZNE-2023-00637%22Test

المؤلفون: Llera, A, Brammer, M, Oakley, B, Tillmann, J, Zabihi, M, Amelink, J S, Mei, T, Charman, T, Ecker, C, Dell'Acqua, F, Banaschewski, T, Moessnang, C, Baron-Cohen, S, Holt, R, Durston, S, Murphy, D, Loth, E, Buitelaar, J K, Floris, D L, Beckmann, C F

المساهمون: Brain, Ontwikkelingsstoornissen Ond.

مصطلحات موضوعية: Autistic Disorder/genetics, Bayes Theorem, Child, Data Collection/methods, Humans, Clinical data, Machine learning, Imputation, Multivariate, Health Informatics, Epidemiology, Journal Article

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/446943Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/446943Test

المؤلفون: Zhang, M., Liu, S., Miao, Z., Han, F., Gottardo, R., Sun, W.

المصدر: Genome biology, vol. 23, no. 1, pp. 33

مصطلحات موضوعية: Autistic Disorder/genetics, Autistic Disorder/metabolism, Autistic Disorder/pathology, COVID-19/genetics, COVID-19/metabolism, COVID-19/pathology, COVID-19/virology, Case-Control Studies, Gene Expression Profiling, Gene Expression Regulation, Humans, Microglia/metabolism, Microglia/pathology, Nerve Tissue Proteins/classification, Nerve Tissue Proteins/genetics, Nerve Tissue Proteins/metabolism, SARS-CoV-2/pathogenicity, Sequence Analysis, RNA/methods, Severity of Illness Index, Single-Cell Analysis/methods, Software, Whole Exome Sequencing, Differential expression, IDEAS, scRNA-seq

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35073995; info:eu-repo/semantics/altIdentifier/eissn/1474-760X; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_B48AF13F6F916; https://serval.unil.ch/notice/serval:BIB_B48AF13F6F91Test; urn:issn:1474-7596; https://serval.unil.ch/resource/serval:BIB_B48AF13F6F91.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_B48AF13F6F916Test

الإتاحة: https://doi.org/10.1186/s13059-022-02605-1Test
https://serval.unil.ch/notice/serval:BIB_B48AF13F6F91Test
https://serval.unil.ch/resource/serval:BIB_B48AF13F6F91.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_B48AF13F6F916Test

المؤلفون: Weiner, Daniel J, Ling, Emi, Erdin, Serkan, Tai, Derek J C, Yadav, Rachita, Grove, Jakob, Fu, Jack M, Nadig, Ajay, Carey, Caitlin E, Baya, Nikolas, Bybjerg-Grauholm, Jonas, Berretta, Sabina, Macosko, Evan Z, Sebat, Jonathan, O'Connor, Luke J, Hougaard, David M, Børglum, Anders D, Talkowski, Michael E, McCarroll, Steven A, Robinson, Elise B

المصدر: Weiner , D J , Ling , E , Erdin , S , Tai , D J C , Yadav , R , Grove , J , Fu , J M , Nadig , A , Carey , C E , Baya , N , Bybjerg-Grauholm , J , iPSYCH Consortium , ASD Working Group of the Psychiatric Genomics Consortium , ADHD Working Group of the Psychiatric Genomics Consortium , Berretta , S , Macosko , E Z , Sebat , J , O'Connor , L J , Hougaard , D M , Børglum , A D , Talkowski ....

مصطلحات موضوعية: Autistic Disorder/genetics, Chromosome Deletion, Chromosomes, Human, Pair 16/genetics, DNA Copy Number Variations, Humans

وصف الملف: application/pdf

العلاقة: https://pure.au.dk/portal/en/publications/5e692cd6-e21b-4735-8810-f6b3a896e111Test

الإتاحة: https://doi.org/10.1038/s41588-022-01203-yTest
https://pure.au.dk/portal/en/publications/5e692cd6-e21b-4735-8810-f6b3a896e111Test
https://pure.au.dk/ws/files/355678375/s41588-022-01203-y.pdfTest

المؤلفون: Riggs, Erin Rooney, Bingaman, Taylor, Barry, Carrie-Ann, Behlmann, Andrea, Bluske, Krista, Bostwick, Bret, Bright, Alison, Chen, Chun-An, Clause, Amanda, Dharmadhikari, Avinash, Ganapathi, Mythily, Gonzaga-Jauregui, Claudia, Grant, Andrew, Hughes, Madeline, Kim, Se Rin, Krause, Amanda, Liao, Jun, Lumaka, Aimé, Mah, Michelle, Maloney, Caitlin, Mohan, Shruthi, Osei-Owusu, Ikeoluwa, Reble, Emma, Rennie, Olivia, Savatt, Juliann, Shimelis, Hermela, Siegert, Rebecca, Sneddon, Tam, Thaxton, Courtney, Toner, Kelly, Tran, Kien Trung, Webb, Ryan, Wilcox, Emma, Yin, Jiani, Zhuo, Xinming, Znidarsic, Masa, Martin, Christa Lese, Betancur, Catalina, Vorstman, Jacob A.S., Miller, David, Schaaf, Christian

المساهمون: Geisinger Autism & Developmental Medicine Institute Danville, PA, USA (ADMI), Drexel University, Invitae Corporation, Illumina, Baylor College of Medicine (BCM), Baylor University, Natera San Carlos, CA, USA, Children’s Hospital Los Angeles Los Angeles, Keck School of Medicine Los Angeles, University of Southern California (USC), Columbia University Irving Medical Center (CUIMC), Universidad Nacional Autónoma de México = National Autonomous University of Mexico (UNAM), Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School Boston (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital Boston, New York Medical College (NYMC), University of Illinois Chicago (UIC), University of Illinois System, National Human Genome Research Institute (NHGRI), University of the Witwatersrand Johannesburg (WITS), Université de Liège, Trillium Health Partners - Mississauga Hospital Mississauga, ON, Canada (THP-MH), University of Washington Seattle, University of North Carolina Chapel Hill (UNC), University of North Carolina System (UNC), St. Michael's Hospital, The Hospital for sick children Toronto (SickKids), Garvan Institute of medical research, Warren Alpert Medical School of Brown University, University of California Los Angeles (UCLA), University of California (UC), The Jackson Laboratory Bar Harbor (JAX), University Medical Centre Ljubljana Ljubljana, Slovenia (UMCL), Neuroscience Paris Seine (NPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Boston Children's Hospital, Harvard Medical School Boston (HMS), Heidelberg University Hospital Heidelberg, This work was supported by the National Human Genome Research Institute of the National Institutes of Health under award number U24HG006834.

المصدر: https://inserm.hal.science/inserm-03816347Test ; 2022, 24 (9), pp.1899-1908. ⟨10.1016/j.gim.2022.05.001⟩.

مصطلحات موضوعية: Autism, ClinGen, Gene–disease validity, Intellectual disability, Neurodevelopmental disorders, MESH: Autism Spectrum Disorder* / diagnosis, MESH: Autism Spectrum Disorder* / genetics, MESH: Autistic Disorder* / diagnosis, MESH: Autistic Disorder* / genetics, MESH: Humans, MESH: Intellectual Disability* / diagnosis, MESH: Intellectual Disability* / genetics, MESH: Neurodevelopmental Disorders* / genetics, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35616647; inserm-03816347; https://inserm.hal.science/inserm-03816347Test; https://inserm.hal.science/inserm-03816347/documentTest; https://inserm.hal.science/inserm-03816347/file/Riggs%20ClinGen%20ID%20autism%20Genet%20Med%202022.pdfTest; PUBMED: 35616647

الإتاحة: https://doi.org/10.1016/j.gim.2022.05.001Test
https://inserm.hal.science/inserm-03816347Test
https://inserm.hal.science/inserm-03816347/documentTest
https://inserm.hal.science/inserm-03816347/file/Riggs%20ClinGen%20ID%20autism%20Genet%20Med%202022.pdfTest

المؤلفون: Urrutia-Ruiz, Carolina, Rombach, Daniel, Cursano, Silvia, Gerlach-Arbeiter, Susanne, Schoen, Michael, Bockmann, Juergen, Demestre, Maria, Böckers, Tobias

المصدر: International journal of molecular sciences 23(11), 6081 (2022). doi:10.3390/ijms23116081 special issue: "Non-genetic Modifiers of Synaptic Plasticity and Neurotransmission in the Central Nervous System (CNS) in Health and Disease"

مصطلحات موضوعية: info:eu-repo/classification/ddc/540, Animals, Autistic Disorder: genetics, Autistic Disorder: metabolism, Brain Injuries, Traumatic: metabolism, Mice, Knockout, Microfilament Proteins: genetics, Microfilament Proteins: metabolism, Nerve Tissue Proteins: genetics, Nerve Tissue Proteins: metabolism, Neuronal Plasticity: genetics, Synapses: metabolism

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/pmid:35682760; info:eu-repo/semantics/altIdentifier/issn/1422-0067; info:eu-repo/semantics/altIdentifier/issn/1661-6596; https://pub.dzne.de/record/164671Test; https://pub.dzne.de/search?p=id:%22DZNE-2022-01201%22Test

الإتاحة: https://doi.org/10.3390/ijms23116081Test
https://pub.dzne.de/record/164671Test
https://pub.dzne.de/search?p=id:%22DZNE-2022-01201%22Test