المؤلفون: Nuttle, Xander, Giannuzzi, Giuliana, Duyzend, Michael H, Schraiber, Joshua G, Narvaiza, Iñigo, Sudmant, Peter H, Penn, Osnat, Chiatante, Giorgia, Malig, Maika, Huddleston, John, Benner, Chris, Camponeschi, Francesca, Ciofi-Baffoni, Simone, Stessman, Holly AF, Marchetto, Maria CN, Denman, Laura, Harshman, Lana, Baker, Carl, Raja, Archana, Penewit, Kelsi, Janke, Nicolette, Tang, W Joyce, Ventura, Mario, Banci, Lucia, Antonacci, Francesca, Akey, Joshua M, Amemiya, Chris T, Gage, Fred H, Reymond, Alexandre, Eichler, Evan E

المصدر: Nature. 536(7615)

مصطلحات موضوعية: Chromosomes, Human, Pair 16, Animals, Humans, Pan troglodytes, Chromosome Breakage, Genetic Predisposition to Disease, Iron, Proteins, Autistic Disorder, Evolution, Molecular, Species Specificity, Gene Duplication, Recombination, Genetic, Homeostasis, Time Factors, DNA Copy Number Variations, Pongo, Human Genome, Genetics, Biotechnology, General Science & Technology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/84x6d03kTest

المؤلفون: Shen, J, Chen, Y, Zhang, T, Zhang, J, Choy, K, Wang, J, Wang, Q, Li, S, Zhou, W, Guo, J, Wang, Y, Zhang, C, Zhao, Hong, An, Yu, Zhao, Yu, Liu, Z, Zuo, Y, Tian, Y, Weng, X, Sutton, V, Wang, H, Ming, Y, Kulkarni, S, Zhong, T, Giampietro, P, Dunwoodie, S, Cheung, S, Zhang, X, Jin, L, Lupski, J, Qiu, G, Zhang, F, Wu, N, Ming, X, Xiao, J, Wu, Z, Chen, X, Shinawi, M, Shen, Y, Yu, G, Liu, J, Xie, H, Gucev, Z, Liu, S, Yang, N, Al-Kateb, H, Chen, J, Hauser, N, Tasic, V, Liu, P, Su, X, Pan, X, Liu, C, Wang, L, Shen, Joseph

المصدر: The New England Journal of Medicine. 372(4)

مصطلحات موضوعية: Adolescent, Asian People, Child, Child, Preschool, Chromosomes, Human, Pair 16, DNA Copy Number Variations, Female, Genetic Predisposition to Disease, Genotype, Humans, Male, Mutation, Pedigree, Phenotype, Radiography, Scoliosis, Sequence Deletion, Spine, T-Box Domain Proteins

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4v9775d7Test

المؤلفون: McCarthy, Shane E, Makarov, Vladimir, Kirov, George, Addington, Anjene M, McClellan, Jon, Yoon, Seungtai, Perkins, Diana O, Dickel, Diane E, Kusenda, Mary, Krastoshevsky, Olga, Krause, Verena, Kumar, Ravinesh A, Grozeva, Detelina, Malhotra, Dheeraj, Walsh, Tom, Zackai, Elaine H, Kaplan, Paige, Ganesh, Jaya, Krantz, Ian D, Spinner, Nancy B, Roccanova, Patricia, Bhandari, Abhishek, Pavon, Kevin, Lakshmi, B, Leotta, Anthony, Kendall, Jude, Lee, Yoon-Ha, Vacic, Vladimir, Gary, Sydney, Iakoucheva, Lilia M, Crow, Timothy J, Christian, Susan L, Lieberman, Jeffrey A, Stroup, T Scott, Lehtimäki, Terho, Puura, Kaija, Haldeman-Englert, Chad, Pearl, Justin, Goodell, Meredith, Willour, Virginia L, Derosse, Pamela, Steele, Jo, Kassem, Layla, Wolff, Jessica, Chitkara, Nisha, McMahon, Francis J, Malhotra, Anil K, Potash, James B, Schulze, Thomas G, Nöthen, Markus M, Cichon, Sven, Rietschel, Marcella, Leibenluft, Ellen, Kustanovich, Vlad, Lajonchere, Clara M, Sutcliffe, James S, Skuse, David, Gill, Michael, Gallagher, Louise, Mendell, Nancy R, Wellcome Trust Case Control Consortium, Craddock, Nick, Owen, Michael J, O'Donovan, Michael C, Shaikh, Tamim H, Susser, Ezra, Delisi, Lynn E, Sullivan, Patrick F, Deutsch, Curtis K, Rapoport, Judith, Levy, Deborah L, King, Mary-Claire, Sebat, Jonathan

المصدر: Nature genetics. 41(11)

مصطلحات موضوعية: Wellcome Trust Case Control Consortium, Chromosomes, Human, Pair 16, Humans, Genetic Predisposition to Disease, Risk Factors, Schizophrenia, Gene Duplication, Chromosomes, Human, Pair 16, Developmental Biology, Medical and Health Sciences, Biological Sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7s81v6xsTest

المؤلفون: Kumar, Ravinesh A, Marshall, Christian R, Badner, Judith A, Babatz, Timothy D, Mukamel, Zohar, Aldinger, Kimberly A, Sudi, Jyotsna, Brune, Camille W, Goh, Gerald, Karamohamed, Samer, Sutcliffe, James S, Cook, Edwin H, Geschwind, Daniel H, Dobyns, William B, Scherer, Stephen W, Christian, Susan L

المصدر: PloS one. 4(2)

مصطلحات موضوعية: Chromosomes, Human, Pair 16, Animals, Humans, Mice, Genetic Predisposition to Disease, Membrane Proteins, DNA Mutational Analysis, Autistic Disorder, Exons, Family Health, Embryo, Mammalian, Promoter Regions, Genetic, Genetic Variation, Chromosomes, Human, Pair 16, Embryo, Mammalian, Promoter Regions, Genetic, General Science & Technology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4fd6g460Test

المؤلفون: Russell, Jonathan, Steckley, Jamie, Hahn, Angelika, Howard, MacKenzie, Kornberg, Zachary, Huang, Alden, Mirsattari, Seyed, Merriman, Barry, Klein, Eric, Choi, Murim, Lee, Hsien-Yang, Kirk, Andrew, Nelson-Williams, Carol, Gibson, Gillian, Ptáček, Louis, Lifton, Richard, Baraban, Scott, Fu, Ying-hui, Coppola, Giovanni, Geschwind, Daniel

المصدر: Annals of Neurology. 72(2)

مصطلحات موضوعية: Adolescent, Adult, Age of Onset, Animals, Apoptosis Regulatory Proteins, Canada, Cell Line, Transformed, Chromosome Mapping, Chromosomes, Human, Pair 16, Electroencephalography, Family Health, Female, Genetic Predisposition to Disease, Glutamic Acid, Humans, Male, Mice, Middle Aged, Muscle Proteins, Mutation, Myoclonus, Phenotype, Proline, Transfection

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8p1665h9Test
https://escholarship.org/content/qt8p1665h9/qt8p1665h9.pdfTest

المؤلفون: Heilman, Susan Ann, Kuo, Ya-Huei, Goudswaard, Chantal S., Valk, Peter J., Castilla, Lucio H.

المساهمون: Program in Gene Function and Expression

المصدر: Cancer research ; 66 ; 23 ; 11214-8

مصطلحات موضوعية: Acute Disease, Animals, Bone Marrow Cells, Cell Proliferation, Chromosomes, Human, Pair 16, Core Binding Factor beta Subunit, Gene Expression Regulation, Neoplastic, Genetic Predisposition to Disease, Genotype, Heterozygote, Humans, Inversion, Chromosome, Kaplan-Meiers Estimate, Leukemia, Myeloid, Mice, Transgenic, Muscle, Smooth, Mutation, Myeloid Progenitor Cells, Myosin Heavy Chains, Oncogene Proteins, Fusion, Genetics and Genomics

العلاقة: Link to article in PubMed; Cancer Res. 2006 Dec 1;66(23):11214-8. Link to article on publisher's site; 0008-5472 (Print); http://hdl.handle.net/20.500.14038/40636Test; https://escholarship.umassmed.edu/cgi/viewcontent.cgi?article=1343&context=oapubs&unstamped=1Test; https://escholarship.umassmed.edu/oapubs/344Test; 533052; oapubs/344

الإتاحة: https://doi.org/10.1158/0008-5472.CAN-06-0959Test
https://doi.org/20.500.14038/40636Test
https://hdl.handle.net/20.500.14038/40636Test
https://escholarship.umassmed.edu/cgi/viewcontent.cgi?article=1343&context=oapubs&unstamped=1Test
https://escholarship.umassmed.edu/oapubs/344Test

المؤلفون: Ting Shen, Ting Ni, Jiaxuan Chen, Haitao Chen, Xiaopin Ma, Guangwen Cao, Tianzhi Wu, Haisheng Xie, Bin Zhou, Gang Wei, Hexige Saiyin, Suqin Shen, Peng Yu, Qianyi Xiao, Hui Liu, Yuzheng Gao, Xidai Long, Jianhua Yin, Yanfang Guo, Jiaxue Wu, Gong-Hong Wei, Jinlin Hou, De-Ke Jiang

مصطلحات موضوعية: Protein-Arginine N-Methyltransferases, Carcinoma, Hepatocellular, Enhancer Elements, Genetic, Multidisciplinary, Liver Neoplasms, Humans, General Physics and Astronomy, Genetic Predisposition to Disease, General Chemistry, Polymorphism, Single Nucleotide, Alleles, Chromosomes, Human, Pair 16, General Biochemistry, Genetics and Molecular Biology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a67e7269fb855650b0f20db446c35480Test
http://urn.fi/urn:nbn:fi-fe2022051736092Test

المؤلفون: Williams, KL, Topp, S, Yang, S, Smith, B, Fifita, JA, Warraich, ST, Zhang, KY, Farrawell, N, Vance, C, Hu, X, Chesi, A, Leblond, CS, Lee, A, Rayner, SL, Sundaramoorthy, V, Dobson-Stone, C, Molloy, MP, Van Blitterswijk, M, Dickson, DW, Petersen, RC, Graff-Radford, NR, Boeve, BF, Murray, ME, Pottier, C, Don, E, Winnick, C, McCann, EP, Hogan, A, Daoud, H, Levert, A, Dion, PA, Mitsui, J, Ishiura, H, Takahashi, Y, Goto, J, Kost, J, Gellera, C, Gkazi, AS, Miller, J, Stockton, J, Brooks, WS, Boundy, K, Polak, M, Muñoz-Blanco, JL, Esteban-Pérez, J, Rábano, A, Hardiman, O, Morrison, KE, Ticozzi, N, Silani, V, De Belleroche, J, Glass, JD, Kwok, JBJ, Guillemin, GJ, Chung, RS, Tsuji, S, Brown, RH, García-Redondo, A, Rademakers, R, Landers, JE, Gitler, AD, Rouleau, GA, Cole, NJ, Yerbury, JJ, Atkin, JD, Shaw, CE, Nicholson, GA, Blair, IP

المصدر: urn:ISSN:2041-1723 ; Nature Communications, 7, 1, 11253

مصطلحات موضوعية: Neurodegenerative, Frontotemporal Dementia (FTD), Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Rare Diseases, Brain Disorders, Neurosciences, Genetics, Dementia, ALS, Acquired Cognitive Impairment, Human Genome, 2 Aetiology, 2.1 Biological and endogenous factors, Neurological, Adult, Aged, Amino Acid Sequence, Amyotrophic Lateral Sclerosis, Animals, Cell Line, Tumor, Chromosome Mapping, Chromosomes, Human, Pair 16, Cyclins, Family Health, Female, Frontotemporal Dementia, Genetic Predisposition to Disease

العلاقة: http://purl.org/au-research/grants/nhmrc/APP1062539Test; http://hdl.handle.net/1959.4/unsworks_43890Test; https://doi.org/10.1038/ncomms11253Test

الإتاحة: https://doi.org/10.1038/ncomms11253Test
http://hdl.handle.net/1959.4/unsworks_43890Test

المؤلفون: Marta Guindo-Martínez, Tõnu Esko, David Torrents, Alejandro Cáceres, Carlos Ruiz-Arenas, Josep M. Mercader, Marcos López-Sánchez, Juan R. González, Lorena Alonso, Luis A. Pérez-Jurado, Ignasi Moran, Josefa González, Ignacio Tolosana

المساهمون: European Commission, Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), Generalitat de Catalunya, Instituto de Salud Carlos III, Ministerio de Economía y Competitividad (España), National Institutes of Health (US)

المصدر: Am J Hum Genet
Digital.CSIC. Repositorio Institucional del CSIC
instname

مصطلحات موضوعية: Adult, Male, Candidate gene, Adolescent, Datasets as Topic, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Article, Transcriptome, Islets of Langerhans, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Diabetes mellitus, Diabetes Mellitus, Genetics, Genetic predisposition, medicine, Humans, Genetic Predisposition to Disease, Obesity, Gene, Alleles, Genetics (clinical), Aged, 030304 developmental biology, Genetic association, Aged, 80 and over, 0303 health sciences, Polymorphism, Genetic, Gene Expression Profiling, Reproducibility of Results, Middle Aged, medicine.disease, 3. Good health, Europe, Haplotypes, Chromosome Inversion, Hypertension, Female, Chromosomes, Human, Pair 16, 030217 neurology & neurosurgery, Chromosomes, Human, Pair 8

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f50be76572d4fbdfad636dbb2c9039dTest
https://doi.org/10.1016/j.ajhg.2020.04.017Test

المؤلفون: Weiping Zou, Junfang Zhang, Jinxian Chen, Dan Ma, Jie Hong, Tingting Yan, Chaoqin Shen, Haoyan Chen, Qiang Liu, Danfeng Sun, Wan Du, Ming Zhong, Fangfang Guo, Ying-Xuan Chen, Yuan-Hong Xie, Xianglong Tian, Ji-Xuan Han, Penglei Jiang, Jing-Yuan Fang, Chenyang Yu, Ye Hu, Xiaoqiang Zhu, Jiayin Tang

المصدر: Oncogene

مصطلحات موضوعية: Male, 0301 basic medicine, Cancer Research, Candidate gene, Apoptosis, Mice, SCID, medicine.disease_cause, Cohort Studies, Mice, 0302 clinical medicine, Mice, Inbred NOD, Tumor Cells, Cultured, Promoter Regions, Genetic, Cancer genetics, Mice, Knockout, Genetics, Cadherins, Prognosis, Gene Expression Regulation, Neoplastic, Mechanisms of disease, 030220 oncology & carcinogenesis, Bone Morphogenetic Proteins, Colorectal Neoplasms, Quantitative Trait Loci, Locus (genetics), Biology, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, Antigens, CD, Biomarkers, Tumor, medicine, Animals, Humans, Genetic Predisposition to Disease, Allele, Enhancer, Molecular Biology, Transcription factor, Alleles, Cell Proliferation, Genetic association, NFATC Transcription Factors, Colorectal cancer, Xenograft Model Antitumor Assays, Repressor Proteins, 030104 developmental biology, Expression quantitative trait loci, Carcinogenesis, Chromosomes, Human, Pair 16, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9d99559cb49a9d090bd8000e7f8fbf8Test
https://doi.org/10.1038/s41388-019-1055-4Test