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1
المؤلفون: Lan Tan, Qiang Dong, Jin-Tai Yu, Hao Hu, Wei Xu, Xue-Ning Shen, Jiu-Long Yang, Lin-Lin Li, Yan-Lin Bi, Ya-Hui Ma, Xiao-He Hou, Fu-Rong Sun
المصدر: Journal of Alzheimer's disease : JAD. 81(1)
مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Amyloid, tau Proteins, Disease, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Cerebrospinal fluid, Cognition, Alzheimer Disease, Internal medicine, medicine, Humans, Hyperuricemia, Phosphorylation, Aged, Amyloid beta-Peptides, business.industry, General Neuroscience, Amyloidosis, Neurodegeneration, General Medicine, Middle Aged, medicine.disease, Peptide Fragments, Uric Acid, Psychiatry and Mental health, Clinical Psychology, 030104 developmental biology, Endocrinology, Biomarker (medicine), Female, Geriatrics and Gerontology, business, 030217 neurology & neurosurgery, Oxidative stress, Biomarkers
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a361bb26f5697e4214ac6c52c11eedd1
https://pubmed.ncbi.nlm.nih.gov/33814427 -
2
المؤلفون: Zuo-Teng Wang, Hao Hu, Yu Guo, Lan Tan, Lin Tan, Ya-Nan Ou, Ting Zhang, Alzheimer’s Disease Neuroimaging Initiative, Jin-Tai Yu, Guang-Xiang Yu, Xiao-He Hou, Wei Xu
المصدر: Journal of Alzheimer's disease : JAD. 80(1)
مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Databases, Factual, Neuroimaging, Kaplan-Meier Estimate, Prevention of dementia, 03 medical and health sciences, Amyloid beta-Protein Precursor, Executive Function, 0302 clinical medicine, Framingham Heart Study, Risk Factors, Bayesian multivariate linear regression, Internal medicine, medicine, Dementia, Humans, Cognitive Dysfunction, Longitudinal Studies, Vascular Diseases, Cognitive decline, Survival analysis, Aged, Brain Chemistry, Framingham Risk Score, business.industry, General Neuroscience, Cognition, General Medicine, Middle Aged, medicine.disease, Mental Status and Dementia Tests, Psychiatry and Mental health, Clinical Psychology, 030104 developmental biology, Cross-Sectional Studies, Glucose, Positron-Emission Tomography, Disease Progression, Female, Geriatrics and Gerontology, business, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8358c71b509e1edcbc7d290fd538de36
https://pubmed.ncbi.nlm.nih.gov/33523005 -
3
المؤلفون: Kees E. P. van Roozendaal, Molka Kammoun, Michael Field, Andreas Dufke, Joris Vermeesch, Annick Toutain, Hao Hu, Theresa Mihalic Mosher, Joep P.M. Geraedts, Hans-Hilger Ropers, Peter White, Jan Liebelt, Sungjin Moon, Vera M. Kalscheuer, Joost Gribnau, Bas de Hoon, Germán Rodríguez Criado, Marie Shaw, Ute Grasshoff, Stefan A. Haas, Benjamin J. Kelly, Lynne Hobson, Marjan De Rademaeker, Christelle Golzio, Suzanna G.M. Frints, Olaf Riess, Claudia S. Bauer, Eric Haan, Nicholas Katsanis, Peter Bauer, Karen W. Gripp, Renee Carroll, Jozef Gecz, Jean Pierre Fryns, Cristina Gontan, Aysegul Ozanturk, Eveline Rentmeester, Martine Raynaud, Scott E. Hickey, Daniel C. Koboldt, Sylvie Manouvrier-Hanu, Lucinda Murray, Koen Devriendt, Christopher Schroeder, Kathryn Friend
المساهمون: Developmental Biology, Obstetrics & Gynecology, MUMC+: DA KG Bedrijfsbureau (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Klinische Genetica, MUMC+: DA KG Lab Centraal Lab (9), Maastricht University Medical Centre (MUMC), Maastricht University [Maastricht], Duke University [Durham], Hospital Universitario Virgen del Rocío [Sevilla], University of Tübingen, Erasmus University Medical Center [Rotterdam] (Erasmus MC), Hunter Genetics, Clinique de Génétique médicale Guy Fontaine [CHRU LIlle], Hôpital Jeanne de Flandres, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME), Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Nationwide Children's Hospital, Ohio State University [Columbus] (OSU), University Hospitals Leuven [Leuven], Nemours/Alfred I. du Pont Hospital for Children, Hôpital Bretonneau, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Max Planck Institute for Molecular Genetics (MPIMG), Max-Planck-Gesellschaft, University of Adelaide, Women’s and Children’s Hospital [Adelaide], SA Pathology [Adelaide, SA, Australia], Vrije Universiteit Brussel (VUB), South Australian Health and Medical Research Institute [ Adelaide] (SAHMRI), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), univOAK, Archive ouverte, Reproduction and Genetics, Clinical sciences, Medical Genetics
المصدر: Molecular Psychiatry, 24(11), 1748-1768. Nature Publishing Group
Molecular Psychiatry
Mol Psychiatry
Mol Psychiatry, 2019, 24 (11), pp.1748-1768. ⟨10.1038/s41380-018-0065-x⟩مصطلحات موضوعية: Male, 0301 basic medicine, X-linked intellectual disability, PROTEIN, [SDV.GEN] Life Sciences [q-bio]/Genetics, FUNCTIONAL-ACTIVITY, Mice, 0302 clinical medicine, Genes, X-Linked, X Chromosome Inactivation, RNF12, Missense mutation, TRANSCRIPTION, Child, Zebrafish, Genetics, Middle Aged, Phenotype, Pedigree, Ubiquitin ligase, Psychiatry and Mental health, medicine.anatomical_structure, Child, Preschool, Female, Adult, Conduct Disorder, Adolescent, Ubiquitin-Protein Ligases, NPAS3, Biology, 03 medical and health sciences, Cellular and Molecular Neuroscience, Intellectual Disability, medicine, Ring finger, Animals, Humans, Molecular Biology, Transcription factor, RLIM, [SDV.GEN]Life Sciences [q-bio]/Genetics, CHROMOSOME INACTIVATION, MUTATIONS, Infant, Newborn, Ubiquitination, Wild type, Zebrafish Proteins, medicine.disease, biology.organism_classification, HEK293 Cells, 030104 developmental biology, Mutation, Mental Retardation, X-Linked, biology.protein, LIM COFACTORS, 030217 neurology & neurosurgery, Transcription Factors, GENE UBE2A CAUSE
وصف الملف: application/pdf
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المؤلفون: Hao Hu, Yan-Li Wang, Lan Tan, Xi-Peng Cao, Wen-Jie Cai, Wei Chen, Zuo-Teng Wang, Alzheimer’s Disease Neuroimaging Initiative, Jin-Tai Yu, Wei Xu
المصدر: Journal of Alzheimer's disease : JAD. 73(2)
مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Longitudinal study, Clinical Dementia Rating, Kaplan-Meier Estimate, Audiology, Neuropsychological Tests, 03 medical and health sciences, 0302 clinical medicine, Alzheimer Disease, mental disorders, medicine, Dementia, Humans, Cognitive Dysfunction, Longitudinal Studies, Cognitive decline, Aged, Aged, 80 and over, business.industry, General Neuroscience, Montreal Cognitive Assessment, General Medicine, Middle Aged, Verbal Learning, medicine.disease, Mental Status and Dementia Tests, Magnetic Resonance Imaging, White Matter, Hyperintensity, Psychiatry and Mental health, Clinical Psychology, 030104 developmental biology, Cross-Sectional Studies, Female, Geriatrics and Gerontology, Alzheimer's disease, business, 030217 neurology & neurosurgery, Alzheimer's Disease Neuroimaging Initiative
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd252f586865a9df696ec643519d4be9
https://pubmed.ncbi.nlm.nih.gov/31839612 -
5
المؤلفون: Sarah Azimi, Leila Nouri Vahid, Krystyna Keleman, Pooneh Nikuei, Tara Akhtarkhavari, Thomas F. Wienker, Beate Albrecht, Hossein Khodaei, Mohammad Reza Ebrahimpour, Mohammad Javad Soltani Banavandi, Marzieh Mohseni, Vanessa Suckow, Aria Jankhah, Milad Bastami, Behzad Davarnia, Vera M. Kalscheuer, Farzaneh Larti, Saeide Akbari, Kimia Kahrizi, Jamileh Rezazadeh Varaghchi, Bettina Lipkowitz, Sanaz Arzhangi, Morteza Oladnabi, Monika Cohen, Sabine Otto, Zohreh Fattahi, Luciana Musante, Payman Jamali, Maryam Beheshtian, Masoumeh Hosseini, Maryam Taghdiri, Wei Chen, Seyedeh Sedigheh Abedini, Bernd Timmermann, Hans-Hilger Ropers, Andreas Tzschach, Gholamreza Bahrami, Birgit Zirn, Hossein Najmabadi, Dagmar Wieczorek, Ingrid Bader, Gabriele Gillessen-Kaesbach, Cornelia Oppitz, Elaheh Papari, Hao Hu, Ralf Herwig, Fatemeh Pourfatemi, Jutta Gärtner, Faezeh Mojahedi, Hossein Dehghani, Sepideh Mehvari, Seyed Hassan Tonekaboni
المصدر: Molecular Psychiatry
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Medizin, Genes, Recessive, Consanguinity, Iran, Biology, DNA sequencing, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Intellectual Disability, Exome Sequencing, Intellectual disability, medicine, Humans, Exome, Family, Protein Interaction Maps, Molecular Biology, Gene, De novo mutations, Affected offspring, Whole genome sequencing, Genetics, Whole Genome Sequencing, Homozygote, High-Throughput Nucleotide Sequencing, Middle Aged, medicine.disease, Pedigree, Psychiatry and Mental health, 030104 developmental biology, Mutation, Female, 030217 neurology & neurosurgery
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eda29e76af95f3244bac3fef885f1ad6
https://hdl.handle.net/21.11116/0000-0000-638A-5