المؤلفون: Hu, Yao, Stilp, Adrienne M, McHugh, Caitlin P, Rao, Shuquan, Jain, Deepti, Zheng, Xiuwen, Lane, John, de Bellefon, Sébastian Méric, Raffield, Laura M, Chen, Ming-Huei, Yanek, Lisa R, Wheeler, Marsha, Yao, Yao, Ren, Chunyan, Broome, Jai, Moon, Jee-Young, de Vries, Paul S, Hobbs, Brian D, Sun, Quan, Surendran, Praveen, Brody, Jennifer A, Blackwell, Thomas W, Choquet, Hélène, Ryan, Kathleen, Duggirala, Ravindranath, Heard-Costa, Nancy, Wang, Zhe, Chami, Nathalie, Preuss, Michael H, Min, Nancy, Ekunwe, Lynette, Lange, Leslie A, Cushman, Mary, Faraday, Nauder, Curran, Joanne E, Almasy, Laura, Kundu, Kousik, Smith, Albert V, Gabriel, Stacey, Rotter, Jerome I, Fornage, Myriam, Lloyd-Jones, Donald M, Vasan, Ramachandran S, Smith, Nicholas L, North, Kari E, Boerwinkle, Eric, Becker, Lewis C, Lewis, Joshua P, Abecasis, Goncalo R, Hou, Lifang, O’Connell, Jeffrey R, Morrison, Alanna C, Beaty, Terri H, Kaplan, Robert, Correa, Adolfo, Blangero, John, Jorgenson, Eric, Psaty, Bruce M, Kooperberg, Charles, Walton, Russell T, Kleinstiver, Benjamin P, Tang, Hua, Loos, Ruth JF, Soranzo, Nicole, Butterworth, Adam S, Nickerson, Debbie, Rich, Stephen S, Mitchell, Braxton D, Johnson, Andrew D, Auer, Paul L, Li, Yun, Mathias, Rasika A, Lettre, Guillaume, Pankratz, Nathan, Laurie, Cathy C, Laurie, Cecelia A, Bauer, Daniel E, Conomos, Matthew P, Reiner, Alexander P, Consortium, NHLBI Trans-Omics for Precision Medicine

المصدر: American Journal of Human Genetics. 108(5)

مصطلحات موضوعية: Epidemiology, Biological Sciences, Health Sciences, Genetics, Biotechnology, Clinical Research, Hematology, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Adult, Aged, Chromosomes, Human, Pair 16, Datasets as Topic, Erythrocytes, Female, Gene Editing, Genetic Variation, Genome-Wide Association Study, HEK293 Cells, Humans, Male, Middle Aged, National Heart, Lung, and Blood Institute (U.S.), Phenotype, Quality Control, Reproducibility of Results, United States, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, base editing, red blood cell traits, whole-genome sequencing, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/24j6v92rTest

المؤلفون: Xian, Rena R, Xie, Yi, Haley, Lisa M, Yonescu, Raluca, Pallavajjala, Aparna, Pittaluga, Stefania, Jaffe, Elaine S, Duffield, Amy S, McCall, Chad M, Gheith, Shereen MF, Gocke, Christopher D

المصدر: Blood Cancer Journal. 10(6)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Oncology and Carcinogenesis, Human Genome, Rare Diseases, Genetics, Hematology, Clinical Research, Cancer, Biotechnology, Lymphoma, 2.1 Biological and endogenous factors, Aetiology, Adult, Aged, CREB-Binding Protein, Chromosome Deletion, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 16, Female, Humans, Lymphoma, Follicular, Male, Middle Aged, Mutation, Polymorphism, Single Nucleotide, STAT6 Transcription Factor, Translocation, Genetic, Cardiorespiratory Medicine and Haematology, Cardiovascular medicine and haematology, Oncology and carcinogenesis

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/39n9r2kjTest

المؤلفون: Adolfo Correa, Jai G. Broome, Chunyan Ren, Kari E. North, Nancy L. Heard-Costa, Yao Yao, Brian D. Hobbs, Mary Cushman, Leslie A. Lange, Daniel E. Bauer, Xiuwen Zheng, Braxton D. Mitchell, Yun Li, Quan Sun, Sébastian Méric de Bellefon, Terri H. Beaty, Paul S. de Vries, Ruth J. F. Loos, Adrienne M. Stilp, Albert V. Smith, Paul L. Auer, Deepti Jain, Lifang Hou, Robert C. Kaplan, Jee-Young Moon, Michael Preuss, Stephen S. Rich, Guillaume Lettre, Nicole Soranzo, Eric Boerwinkle, Kousik Kundu, Laura Almasy, Marsha M. Wheeler, Thomas W. Blackwell, Nancy Min, Nicholas L. Smith, Bruce M. Psaty, Lisa R. Yanek, Joanne E. Curran, Stacey Gabriel, Kathleen A. Ryan, Alanna C. Morrison, Lynette Ekunwe, Caitlin P. McHugh, Laura M. Raffield, Adam S. Butterworth, Deborah A. Nickerson, Ravindranath Duggirala, Gonçalo R. Abecasis, John Lane, Hélène Choquet, Andrew D. Johnson, Nauder Faraday, Russell T. Walton, Praveen Surendran, Jennifer A. Brody, Yao Hu, Alexander P. Reiner, Jerome I. Rotter, Donald M. Lloyd-Jones, Cathy C. Laurie, Zhe Wang, Hua Tang, Charles Kooperberg, Eric Jorgenson, Jeffrey R. O'Connell, Shuquan Rao, Nathalie Chami, Rasika A. Mathias, Matthew P. Conomos, Myriam Fornage, Ramachandran S. Vasan, Nathan Pankratz, Joshua P. Lewis, Lewis C. Becker, Benjamin P. Kleinstiver, Cecelia A. Laurie, Ming-Huei Chen, John Blangero

المصدر: Am J Hum Genet

مصطلحات موضوعية: Adult, Male, Quality Control, 0301 basic medicine, Erythrocytes, Population, Datasets as Topic, Genome-wide association study, Biology, Quantitative trait locus, Article, 03 medical and health sciences, 0302 clinical medicine, Genetics, Humans, Indel, education, Gene, Genetics (clinical), Aged, Genetic association, Gene Editing, Whole genome sequencing, education.field_of_study, Genetic Variation, Reproducibility of Results, Correction, Middle Aged, United States, Genetic architecture, HEK293 Cells, Phenotype, 030104 developmental biology, 030220 oncology & carcinogenesis, Female, National Heart, Lung, and Blood Institute (U.S.), Chromosomes, Human, Pair 16, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b87edb710dac1b94b0361a1b7107d06Test
https://doi.org/10.1016/j.ajhg.2021.04.003Test

المؤلفون: Zollino, M.

المساهمون: Loviglio, M. N., Leleu, M., Männik, K., Passeggeri, M., Giannuzzi, G., Van Der Werf, I., Waszak, S. M., Zazhytska, M., Roberts-Caldeira, I., Gheldof, N., Migliavacca, E., Alfaiz, A. A., Hippolyte, L., Maillard, A. M., Zollino, Marcella, Van Dijck, A., Kooy, R. F., Sanlaville, D., Rosenfeld, J. A., Shaffer, L. G., Andrieux, J., Marshall, C., Scherer, S. W., Shen, Y., Gusella, J. F., Thorsteinsdottir, U., Thorleifsson, G., Dermitzakis, E. T., Deplancke, B., Beckmann, J. S., Rougemont, J., Jacquemont, S., Reymond, A.

مصطلحات موضوعية: Adolescent, Adult, Aged, Autism Spectrum Disorder, Autistic Disorder, Body Mass Index, Child, Preschool, Chromatin, Chromosome Deletion, Chromosome Duplication, Chromosome Mapping, Chromosomes, Human, Pair 16, DNA Copy Number Variation, Female, In Situ Hybridization, Fluorescence, Infant, Intellectual Disability, Male, Megalencephaly, Microcephaly, Middle Aged, Obesity, Phenotype, Molecular Biology, Psychiatry and Mental Health, Cellular and Molecular Neuroscience

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27240531; info:eu-repo/semantics/altIdentifier/wos/WOS:000401702800007; volume:22; issue:6; firstpage:836; lastpage:849; numberofpages:14; issueyear:2017; journal:MOLECULAR PSYCHIATRY; http://hdl.handle.net/10807/114664Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84973140920; http://www.nature.com/mp/index.htmlTest

الإتاحة: https://doi.org/10.1038/mp.2016.84Test
http://hdl.handle.net/10807/114664Test
http://www.nature.com/mp/index.htmlTest

المؤلفون: Traylor, Matthew, Malik, Rainer, Nalls, Mike A, Cotlarciuc, Ioana, Radmanesh, Farid, Thorleifsson, Gudmar, Hanscombe, Ken B, Langefeld, Carl, Saleheen, Danish, Rost, Natalia S, Yet, Idil, Spector, Tim D, Bell, Jordana T, Hannon, Eilis, Mill, Jonathan, Chauhan, Ganesh, Debette, Stephanie, Bis, Joshua C, Longstreth, WT, Ikram, M Arfan, Launer, Lenore J, Seshadri, Sudha, METASTROKE, UK Young Lacunar DNA Study, NINDS Stroke Genetics Network, Neurology Working Group of the CHARGE Consortium, Hamilton-Bruce, Monica Anne, Jimenez-Conde, Jordi, Cole, John W, Schmidt, Reinhold, Słowik, Agnieszka, Lemmens, Robin, Lindgren, Arne, Melander, Olle, Grewal, Raji P, Sacco, Ralph L, Rundek, Tatjana, Rexrode, Kathryn, Arnett, Donna K, Johnson, Julie A, Benavente, Oscar R, Wasssertheil-Smoller, Sylvia, Lee, Jin-Moo, Pulit, Sara L, Wong, Quenna, Rich, Stephen S, de Bakker, Paul IW, McArdle, Patrick F, Woo, Daniel, Anderson, Christopher D, Xu, Huichun, Heitsch, Laura, Fornage, Myriam, Jern, Christina, Stefansson, Kari, Thorsteinsdottir, Unnur, Gretarsdottir, Solveig, Lewis, Cathryn M, Sharma, Pankaj, Sudlow, Cathie LM, Rothwell, Peter M, Boncoraglio, Giorgio B, Thijs, Vincent, Levi, Chris, Meschia, James F, Rosand, Jonathan, Kittner, Steven J, Mitchell, Braxton D, Dichgans, Martin, Worrall, Bradford B, Markus, Hugh S, International Stroke Genetics Consortium

مصطلحات موضوعية: Adult, Aged, 80 and over, Cerebral Small Vessel Diseases, Chromosomes, Human, Pair 16, Female, Genetic Loci, Genetic Variation, Genome-Wide Association Study, Humans, Male, Middle Aged, Stroke, Lacunar, Zinc Fingers

وصف الملف: Print; application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/262766Test

الإتاحة: https://doi.org/10.17863/CAM.8057Test
https://www.repository.cam.ac.uk/handle/1810/262766Test

المؤلفون: Si-da Cheng, Ben Xu, Yi-Ji Peng, Binglei Ma

المصدر: Genes & Genomics. 43:123-131

مصطلحات موضوعية: Adult, Male, 0106 biological sciences, 0301 basic medicine, Tumor suppressor gene, Carcinogenesis, Biology, medicine.disease_cause, 01 natural sciences, Biochemistry, 03 medical and health sciences, ADAMTS Proteins, Cell Line, Tumor, Genetics, medicine, Humans, Viability assay, Carcinoma, Renal Cell, Molecular Biology, Aged, Methylation, DNA Methylation, Middle Aged, medicine.disease, Kidney Neoplasms, Reverse transcription polymerase chain reaction, Clear cell renal cell carcinoma, 030104 developmental biology, DNA methylation, Cancer research, Immunohistochemistry, Female, Chromosomes, Human, Pair 16, 010606 plant biology & botany

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::087b485dac83db7cde41ce38ddb4206aTest
https://doi.org/10.1007/s13258-021-01036-9Test

المؤلفون: Smol, Thomas, Collonge-Rame, Marie-Agnès

المساهمون: Laboratoire de Génétique biologique, Histologie et BDR, CHU de Besançon (France)

مصطلحات موضوعية: t(8, 16)(p11, p13), KAT6A, CREBBP, Leukaemia Section, Humans, Male, Aged, Adult, Middle Aged, Chromosomes, Human, Pair 8, Translocation, Genetic, Adolescent, Prognosis, Karyotyping, Pair 8/*genetics, Pair 16, 80 and over, Genetic/*genetics, Infant, Newborn, Histone Acetyltransferases/*genetics, Pair 16/*genetics, Child, Acute Disease

العلاقة: Atlas of Genetics and Cytogenetics in Oncology and Haematology; http://AtlasGeneticsOncology.org/Anomalies/t0816ID1018.txtTest; Thomas, Smol; Marie-Agnès, Collonge-Rame. t(8;16)(p11;p13) KAT6A/CREBBP. Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2015, 7, p. 476-480; http://hdl.handle.net/2042/62192Test; https://doi.org/10.4267/2042/62192Test

الإتاحة: https://doi.org/10.4267/2042/62192Test
http://hdl.handle.net/2042/62192Test

المؤلفون: Cheng, Chi-Keung, Li, Libby, Cheng, Suk-Hang, Lau, Kin-Mang, Chan, Natalie P. H., Wong, Raymond S. M., Shing, Matthew M. K., Li, Chi-Kong, Ng, Margaret H. L.

المساهمون: Department of Anatomical and Cellular Pathology, Graduate School of Biomedical Sciences

المصدر: Blood ; 112 ; 8 ; 3391-402

مصطلحات موضوعية: Adolescent, Adult, Aged, 80 and over, Child, Preschool, Chromosomes, Human, Pair 16, Pair 21, Pair 8, Core Binding Factor Alpha 3 Subunit, Female, Humans, Infant, Leukemia, Myeloid, Acute, Male, Middle Aged, Transcription, Genetic, Translocation, Life Sciences, Medicine and Health Sciences

العلاقة: Link to Article in PubMed; http://dx.doi.org/10.1182/blood-2008-02-137083Test; Blood. 2008 Oct 15;112(8):3391-402. Epub 2008 Jul 28. Link to article on publisher's site; 1528-0020 (Electronic); http://hdl.handle.net/20.500.14038/33022Test; https://escholarship.umassmed.edu/gsbs_sp/1570Test; 740109; gsbs_sp/1570

الإتاحة: https://doi.org/10.1182/blood-2008-02-137083Test
https://doi.org/20.500.14038/33022Test
https://hdl.handle.net/20.500.14038/33022Test
https://escholarship.umassmed.edu/gsbs_sp/1570Test

المؤلفون: Tingjuan Zhang, Jingdong Zhou, Yangli Zhao, Yangjing Zhao

المصدر: Cancer Biomarkers. 29:387-397

مصطلحات موضوعية: Male, Oncology, Cancer Research, medicine.medical_treatment, Datasets as Topic, Kaplan-Meier Estimate, Hematopoietic stem cell transplantation, Translocation, Genetic, chemistry.chemical_compound, 0302 clinical medicine, Bone Marrow, hemic and lymphatic diseases, Aged, 80 and over, 0303 health sciences, Gene Expression Regulation, Leukemic, Hematopoietic Stem Cell Transplantation, Myeloid leukemia, General Medicine, Middle Aged, Prognosis, RUNX2, Leukemia, Myeloid, Acute, RUNX1, 030220 oncology & carcinogenesis, Core Binding Factor Alpha 2 Subunit, Female, Chromosomes, Human, Pair 8, Adult, medicine.medical_specialty, Adolescent, Disease-Free Survival, Young Adult, 03 medical and health sciences, Internal medicine, Cancer genome, microRNA, Genetics, medicine, Humans, neoplasms, Transcription factor, Aged, 030304 developmental biology, Chemotherapy, business.industry, DNA Methylation, Core Binding Factor Alpha 3 Subunit, chemistry, Case-Control Studies, Mutation, Neoplasm Recurrence, Local, business, Chromosomes, Human, Pair 16

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6e85a5f27a3e0598a801609486b5c23Test
https://doi.org/10.3233/cbm-200016Test

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