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1دورية أكاديمية
المؤلفون: Dixon-Zegeye, Miriam, Shaw, Rachel, Collins, Linda, Perez-Smith, Kendra, Ooms, Alexander, Qiao, Maggie, Pantziarka, Pan, Izatt, Louise, Tischkowitz, Marc, Harrison, Rachel E, George, Angela, Woodward, Emma R, Lord, Simon, Hawkes, Lara, Evans, D Gareth, Franklin, James, Hanson, Helen, Blagden, Sarah P
مصطلحات موضوعية: Cancer, Chemoprevention, LFS, Li-Fraumeni syndrome, Metformin, Precision-Prevention, TP53, p53, Adult, Humans, Mice, Animals, Quality of Life, Germ-Line Mutation, Magnetic Resonance Imaging, Genetic Predisposition to Disease, Randomized Controlled Trials as Topic, Clinical Trials, Phase II as Topic
وصف الملف: application/pdf
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2دورية أكاديميةGermline cancer predisposition variants and pediatric glioma: a population-based study in California
المؤلفون: Muskens, Ivo S, de Smith, Adam J, Zhang, Chenan, Hansen, Helen M, Morimoto, Libby, Metayer, Catherine, Ma, Xiaomei, Walsh, Kyle M, Wiemels, Joseph L
المصدر: Neuro-Oncology. 22(6)
مصطلحات موضوعية: Rare Diseases, Brain Disorders, Genetic Testing, Pediatric Cancer, Neurosciences, Prevention, Brain Cancer, Cancer, Biotechnology, Human Genome, Genetics, Clinical Research, Pediatric, 2.1 Biological and endogenous factors, Aetiology, California, Child, Genetic Predisposition to Disease, Germ-Line Mutation, Glioma, Humans, pediatric glioma, Li-Fraumeni syndrome, glioblastoma, germline variant, exome sequencing, Li–Fraumeni syndrome, Oncology and Carcinogenesis, Oncology & Carcinogenesis
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/40b525bbTest
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3دورية أكاديمية
المؤلفون: Fortuno, Cristina, Lee, Kristy, Olivier, Magali, Pesaran, Tina, Mai, Phuong L, Andrade, Kelvin C, Attardi, Laura D, Crowley, Stephanie, Evans, D Gareth, Feng, Bing‐Jian, Foreman, Ann KM, Frone, Megan N, Huether, Robert, James, Paul A, McGoldrick, Kelly, Mester, Jessica, Seifert, Bryce A, Slavin, Thomas P, Witkowski, Leora, Zhang, Liying, Plon, Sharon E, Spurdle, Amanda B, Savage, Sharon A, Panel, the ClinGen TP53 Variant Curation Expert
المصدر: Human Mutation. 42(3)
مصطلحات موضوعية: Human Genome, Prevention, Genetics, Cancer, Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Genetic Testing, Genetic Variation, Germ Cells, Humans, Li-Fraumeni Syndrome, Tumor Suppressor Protein p53, United States, cancer, pathogenic variant, TP53, variant curation, ClinGen TP53 Variant Curation Expert Panel, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/6r4715qgTest
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4دورية أكاديمية
المؤلفون: Sloan, Emily A, Hilz, Stephanie, Gupta, Rohit, Cadwell, Cathryn, Ramani, Biswarathan, Hofmann, Jeffrey, Kline, Cassie N, Banerjee, Anu, Reddy, Alyssa, Oberheim Bush, Nancy Ann, Chang, Susan, Braunstein, Steve, Chang, Edward F, Raffel, Corey, Gupta, Nalin, Sun, Peter P, Kim, John YH, Moes, Gregory, Alva, Elizabeth, Li, Rong, Bruggers, Carol S, Alashari, Mouied, Wetmore, Cynthia, Garg, Shipra, Dishop, Megan, Van Ziffle, Jessica, Onodera, Courtney, Devine, Patrick, Grenert, James P, Lee, Julieann C, Phillips, Joanna J, Pekmezci, Melike, Tihan, Tarik, Bollen, Andrew W, Berger, Mitchel S, Costello, Joseph F, Perry, Arie, Solomon, David A
المصدر: Acta Neuropathologica. 139(5)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Neurosciences, Adolescent, Adult, Child, Child, Preschool, Female, Genetic Predisposition to Disease, Germ-Line Mutation, Glioma, Humans, Li-Fraumeni Syndrome, Male, Tumor Suppressor Protein p53, Young Adult, Clinical Sciences, Neurology & Neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/6d89g89fTest
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5دورية أكاديمية
المؤلفون: Light, Nicholas, Layeghifard, Mehdi, Attery, Ayush, Subasri, Vallijah, Zatzman, Matthew, Anderson, Nathaniel D, Hatkar, Rupal, Blay, Sasha, Chen, David, Novokmet, Ana, Fuligni, Fabio, Tran, James, de Borja, Richard, Agarwal, Himanshi, Waldman, Larissa, Abegglen, Lisa M, Albertson, Daniel, Finlay, Jonathan L, Hansford, Jordan R, Behjati, Sam, Villani, Anita, Gerstung, Moritz, Alexandrov, Ludmil B, Somers, Gino R, Schiffman, Joshua D, Rotter, Varda, Malkin, David, Shlien, Adam
المصدر: nlmid: 101528555 ; essn: 2041-1723
مصطلحات موضوعية: Humans, Tumor Suppressor Protein p53, Genetic Predisposition to Disease, DNA Copy Number Variations, Phosphatidylinositol 3-Kinases, Phylogeny, Li-Fraumeni Syndrome, Germ-Line Mutation, Mutation, Neoplastic Syndromes, Hereditary
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.17863/CAM.93707Test
https://www.repository.cam.ac.uk/handle/1810/346286Test -
6دورية أكاديمية
المؤلفون: Dixon-Zegeye, M., Shaw, R., Collins, L., Perez-Smith, K., Ooms, A., Qiao, M., Pantziarka, P., Izatt, L., Tischkowitz, M., Harrison, R. E., George, A., Woodward, E. R., Lord, S., Hawkes, L., Evans, D. G., Franklin, J., Hanson, H., Blagden, S. P.
مصطلحات موضوعية: Adult, Humans, Mice, Animals, Li-Fraumeni Syndrome/diagnostic imaging/genetics/prevention & control, Metformin/adverse effects, Quality of Life, Germ-Line Mutation, Magnetic Resonance Imaging, Genetic Predisposition to Disease, Randomized Controlled Trials as Topic, Clinical Trials, Phase II as Topic, Cancer, Chemoprevention, Lfs, Li-Fraumeni syndrome, Metformin, Precision-Prevention
العلاقة: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/38308321Test/; Dixon-Zegeye M, Shaw R, Collins L, Perez-Smith K, Ooms A, Qiao M, et al. Cancer Precision-Prevention trial of Metformin in adults with Li Fraumeni syndrome (MILI) undergoing yearly MRI surveillance: a randomised controlled trial protocol. Trials. 2024;25(1):103.; Trials; PMC10837926; https://hdl.handle.net/11287/623225Test
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7دورية أكاديميةA mouse model for Li-Fraumeni-Like Syndrome with cardiac angiosarcomas associated to POT1 mutations.
المؤلفون: Martínez, Paula, Sánchez-Vázquez, Raúl, Ferrara-Romeo, Iole, Serrano, Rosa, Flores, Juana M, Blasco, MA
المساهمون: Agencia Estatal de Investigación (España), Comunidad de Madrid (España), Ministerio de Ciencia e Innovación (España), Unión Europea. Comisión Europea. European Research Council (ERC), Fundación Banco Santander
مصطلحات موضوعية: Hemangiosarcoma, Telomerase, Animals, Endothelial Cells, Fibroblasts, Humans, Li-Fraumeni Syndrome, Mice, Mutation, Shelterin Complex, Telomere, Telomere-Binding Proteins
العلاقة: https://doi.org/10.1371/journal.pgen.1010260Test.; info:eu-repo/grantAgreement/EC/H2020/882385/EU; info:eu-repo/grantAgreement/ES/SAF2017-82623-R; info:eu-repo/grantAgreement/ES/SAF201572455-EXP; PLoS Genet . 2022 ;18(6):e1010260; http://hdl.handle.net/20.500.12105/18980Test; PLoS genetics
الإتاحة: https://doi.org/20.500.12105/18980Test
https://doi.org/10.1371/journal.pgen.1010260Test
https://hdl.handle.net/20.500.12105/18980Test -
8دورية أكاديمية
المؤلفون: Castiaux, Julie, Vandernoot, Isabelle, Dallemagne, Julie, Bruneau, Marie, Delaunoy, Melanie, Peyrassol, Xavier, Heimann, Pierre, De Wilde, Virginie, Wolfromm, Alice
المصدر: Clinical lymphoma, myeloma & leukemia, 21 (8
مصطلحات موضوعية: Sciences bio-médicales et agricoles, Adult, Antineoplastic Combined Chemotherapy Protocols -- therapeutic use, Female, Germ-Line Mutation, Humans, Li-Fraumeni Syndrome -- drug therapy -- genetics, Multiple Myeloma -- drug therapy -- genetics, Thyroid Neoplasms -- drug therapy -- genetics, Treatment Outcome, Tumor Suppressor Protein p53 -- genetics, Li-Fraumeni syndrome, Multiple myeloma, Mutational load, Prognosis, Thyroid carcinoma, Treatment
وصف الملف: 2 full-text file(s): application/pdf | application/pdf
العلاقة: uri/info:doi/10.1016/j.clml.2020.10.001; uri/info:pii/S2152-2650(20)30552-8; uri/info:pmid/34049842; uri/info:scp/85106661434; https://dipot.ulb.ac.be/dspace/bitstream/2013/355097/5/1-s2.0-S2152265020305528-main.pdfTest; https://dipot.ulb.ac.be/dspace/bitstream/2013/355097/1/elsevier_338741.pdfTest; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/355097Test
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9
المؤلفون: Juliane Nees, Senta Kiermeier, Farina Struewe, Myriam Keymling, Imad Maatouk, Christian P. Kratz, Sarah Schott
المصدر: Current Oncology; Volume 29; Issue 10; Pages: 7768-7778
مصطلحات موضوعية: Adult, Male, Li-Fraumeni Syndrome, Health Behavior, Quality of Life, pathogenic TP53 germline variant, Li-Fraumeni syndrome, cancer prevention, physical activity, cancer predisposition, SF-12, MEDAS, Humans, Female, Genetic Predisposition to Disease, Tumor Suppressor Protein p53, Germ-Line Mutation
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2eb7375324e9cedc51f8f81fd360fde9Test
https://doi.org/10.3390/curroncol29100614Test -
10دورية أكاديمية
المؤلفون: Kratz, CP, Freycon, C, Maxwell, KN, Nichols, KE, Schiffman, JD, Evans, DG, Achatz, MI, Savage, SA, Weitzel, JN, Garber, JE, Hainaut, P, Malkin, D
المصدر: Kratz , CP , Freycon , C , Maxwell , KN , Nichols , KE , Schiffman , JD , Evans , DG , Achatz , MI , Savage , SA , Weitzel , JN , Garber , JE , Hainaut , P & Malkin , D 2021 , ' Analysis of the Li-Fraumeni Spectrum Based on an International Germline TP53 Variant Data Set: An International Agency for Research on Cancer TP53 Database Analysis. ' , JAMA oncology , vol. 7 , no. 12 , pp. 1800-1805 . https://doi.org/10.1001/jamaoncol.2021.4398Test
مصطلحات موضوعية: Cohort Studies, Genetic Predisposition to Disease, Germ Cells, Germ-Line Mutation, Humans, International Agencies, Li-Fraumeni Syndrome/epidemiology, Tumor Suppressor Protein p53/genetics
الإتاحة: https://doi.org/10.1001/jamaoncol.2021.4398Test
https://research.manchester.ac.uk/en/publications/2c2ee5b0-1578-4e8d-8bd6-00b9d16217e2Test