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1
المؤلفون: Noreen Dhalla, Saianand Balu, Alexander Potapov, Yiling Lu, Antonio Iavarone, Roel G.W. Verhaak, Alessandro Perin, Bradley A. Murray, Lee Lichtenstein, Nils Gehlenborg, Zhenlin Ju, Simon G. Coetzee, Stephanie Weaver, Gaetano Finocchiaro, Susan M. Staugaitis, Scott Morris, Da Yang, Rosy Singh, Erik Zmuda, Wei Zhang, Aaron D. Black, Roger E. McLendon, J. Bradley Elder, J. Todd Auman, Arvind Rao, Harshad S. Mahadeshwar, Yunhu Wan, Liming Yang, Stacey Gabriel, Andreas Unterberg, Adam E. Flanders, Piotr A. Mieczkowski, Jianjiong Gao, Robert Penny, Andrew Wei Xu, Peter W. Laird, Gad Getz, Cynthia Taylor, Adrian Ally, Ilya Shmulevich, Tina Wong, Christopher M. McPherson, Heidi J. Sofia, Matthew G. Soloway, Jonna Grimsby, Caterina Giannini, Mark L. Cohen, Johanna Gardner, Semin Lee, Alan P. Hoyle, Jianhua Zhang, Thais S. Sabedot, Felicia Williams, Mia Grifford, Daniela Pretti da Cunha Tirapelli, David Van Den Berg, Margi Sheth, Ye Wu, Jenny Eschbacher, Marco A. Marra, Katherine A. Hoadley, Angeliki Pantazi, Chris Benz, Michael S. Noble, Christopher R. Pierson, Kristen M. Leraas, Roy Tarnuzzer, Suzanne Sifri, Huandong Sun, Greg Eley, Eyas M. Hattab, David I. Heiman, Rehan Akbani, Todd Pihl, Michael Parfenov, Erwin G. Van Meir, Jill S. Barnholtz-Sloan, Peggy Yena, Josh Stuart, Richard A. Moore, Toshinori Hinoue, Kelly Senecal, Andrew D. Cherniack, Donald W. Parsons, Rileen Sinha, Dennis T. Maglinte, Timothy A. Chan, Reanne Bowlby, Phuong L. Nguyen, Juok Cho, Andrew E. Sloan, Alexei Protopopov, Matthew Schniederjan, Yun Wang, Yuexin Liu, Rameen Beroukhim, Kristian Cibulskis, Ty Abel, Ronald E. Warnick, Sahil Seth, Richard A. Gibbs, Rebecca Duell, W. Kimryn Rathmell, Jay Bowen, Michael S. Lawrence, Darell D. Bigner, Mary McGraw, Wen-Bin Liu, Xiaojia Ren, Umadevi Veluvolu, Erin Curley, Lynda Chin, Andy Chu, Laila M. Poisson, Harindra Arachchi, Jean C. Zenklusen, Ardene Noss, Sue E. Bell, Karen Devine, Moiz S. Bootwalla, Rebecca Carlsen, David Mallery, Eric S. Lipp, Hailei Zhang, Bradley A. Ozenberger, Andrew J. Mungall, Amie Radenbaugh, Luciano Neder, Sol Katzman, Lisa Iype, Shaowu Meng, Wendi Barrett, S. Onur Sumer, Katie Dicostanzo, Mark Vitucci, Phillip H. Lai, Vsevolod Shurkhay, D. Neil Hayes, Jiabin Tang, Hui Shen, Christopher A. Bristow, Stefania Cuzzubbo, Quinn T. Ostrom, Yasin Senbabaoglu, Ruth Steele, Peter J. Park, Jacqueline E. Schein, Lior Pachter, Jia Liu, Payal Sipahimalani, Angela Hadjipanayis, Scott L. Carter, Donghui Tan, Travis I. Zack, Kristen Shimmel, Steven E. Schumacher, Leigh B. Thorne, Kenna R. Mills Shaw, Troy Shelton, Julien Baboud, Jianan Zhang, Olga Potapova, Stuart R. Jefferys, Andreas von Deimling, B. Arman Aksoy, Carrie Sougnez, Howard Colman, Tom Mikkelsen, Amanda Clarke, Houtan Noushmehr, Daniel Crain, Mark A. Jensen, D L Rotin, Stephen B. Baylin, Barry S. Taylor, Gordon Saksena, Benito Campos, Sudha Chudamani, Ouida Liu, Lisle E. Mose, Jonathan G. Seidman, Corbin D. Jones, Norman L. Lehman, Eric S. Lander, David Haussler, Franklin W. Huang, Nina Thiessen, Charles M. Perou, Gregory N. Fuller, Kosuke Yoshihara, C. Ryan Miller, Brenda Ayala, Dina Aziz, Sara Sadeghi, Cameron Brennan, Randy Mandt, Aditya Raghunathan, Jeffrey Roach, Robert A. Holt, Timothy J. Triche, Barbara Tabak, Kenneth Aldape, John N. Weinstein, Kevin Lau, Ady Kendler, Lee Cooper, Carlos Gilberto Carlotti, Siyuan Zheng, Isaac Joseph, Jason T. Huse, Steven J.M. Jones, Brady Bernard, Chip Stewart, Lixing Yang, Lisa Wise, A. Gordon Robertson, Ronglai Shen, Lisa Scarpace, Richard Kreisberg, Shiyun Ling, Michael Mayo, Jordonna Fulop, Cathy Brewer, Denise Brooks, Daniel E. Carlin, Nils Weinhold, Angela Tam, Beth Hermes, Kalle Leinonen, Giovanni Ciriello, Mahitha Vallurupalli, John A. Demchok, Bianca Pollo, Christel Herold-Mende, Rajan Jain, Liu Xi, Francesco DiMeco, Nilsa C. Ramirez, Tara M. Lichtenberg, Ashley Fehrenbach, Yingchun Liu, Miruna Balasundaram, Sofie R. Salama, Rivka R. Colen, Olena Morozova, Yussanne Ma, Zhining Wang, W. K. Alfred Yung, Scott R. VandenBerg, Esther Rheinbay, Junyuan Wu, Katayoon Kasaian, Tanja M. Davidsen, William A. Friedman, Kathy Smolenski, Yichao Sun, Anders Jacobsen, Chiara Calatozzolo, Matthew D. Wilkerson, Lucia Cuppini, Gordon B. Mills, Xingzhi Song, Joseph Paulauskis, Jaegil Kim, Pei Lin, Scott Frazer, William M. Lee, Evan O. Paull, Sheila A. Fisher, Carolyn M. Hutter, Janae V. Simons, Gene Barnett, Mara Rosenberg, Scot Waring, Timothy R. Fennell, Raju Kucherlapati, Christine Jungk, Martin L. Ferguson, Julie M. Gastier-Foster, Cathy Schilero, Yingli Wolinsky, Rohini Raman, Zack Sanborn, Ranabir Guin, Matthew Meyerson, Daniel J. Brat, Cheryl A. Palmer, Nikolaus Schultz, Erik P. Sulman, Eric Chuah, Mark E. Sherman, Theo A. Knijnenburg, Mitchel S. Berger, Lihua Zou, Hoon Kim, Daniel DiCara, Sam Ng, Joel S. Parker, Sheila Reynolds, Raffaele Nunziata, Daniel J. Weisenberger, Natalie Tasman, Chris Sander, Doug Voet, Yaron S.N. Butterfield, Brian P. O'Neill, Lori Boice
المساهمون: Brat D.J., Verhaak R.G.W., Aldape K.D., Yung W.K.A., Salama S.R., Cooper L.A.D., Rheinbay E., Miller C.R., Vitucci M., Morozova O., Robertson A.G., Noushmehr H., Laird P.W., Cherniack A.D., Akbani R., Huse J.T., Ciriello G., Poisson L.M., Barnholtz-Sloan J.S., Berger M.S., Brennan C., Colen R.R., Colman H., Flanders A.E., Giannini C., Grifford M., Iavarone A., Jain R., Joseph I., Kim J., Kasaian K., Mikkelsen T., Murray B.A., O'Neill B.P., Pachter L., Parsons D.W., Sougnez C., Sulman E.P., Vandenberg S.R., Van Meir E.G., Von Deimling A., Zhang H., Crain D., Lau K., Mallery D., Morris S., Paulauskis J., Penny R., Shelton T., Sherman M., Yena P., Black A., Bowen J., Dicostanzo K., Gastier-Foster J., Leraas K.M., Lichtenberg T.M., Pierson C.R., Ramirez N.C., Taylor C., Weaver S., Wise L., Zmuda E., Davidsen T., Demchok J.A., Eley G., Ferguson M.L., Hutter C.M., Shaw K.R.M., Ozenberger B.A., Sheth M., Sofia H.J., Tarnuzzer R., Wang Z., Yang L., Zenklusen J.C., Ayala B., Baboud J., Chudamani S., Jensen M.A., Liu J., Pihl T., Raman R., Wan Y., Wu Y., Ally A., Auman J.T., Balasundaram M., Balu S., Baylin S.B., Beroukhim R., Bootwalla M.S., Bowlby R., Bristow C.A., Brooks D., Butterfield Y., Carlsen R., Carter S., Chin L., Chu A., Chuah E., Cibulskis K., Clarke A., Coetzee S.G., Dhalla N., Fennell T., Fisher S., Gabriel S., Getz G., Gibbs R., Guin R., Hadjipanayis A., Hayes D.N., Hinoue T., Hoadley K., Holt R.A., Hoyle A.P., Jefferys S.R., Jones S., Jones C.D., Kucherlapati R., Lai P.H., Lander E., Lee S., Lichtenstein L., Ma Y., Maglinte D.T., Mahadeshwar H.S., Marra M.A., Mayo M., Meng S., Meyerson M.L., Mieczkowski P.A., Moore R.A., Mose L.E., Mungall A.J., Pantazi A., Parfenov M., Park P.J., Parker J.S., Perou C.M., Protopopov A., Ren X., Roach J., Sabedot T.S., Schein J., Schumacher S.E., Seidman J.G., Seth S., Shen H., Simons J.V., Sipahimalani P., Soloway M.G., Song X., Sun H., Tabak B., Tam A., Tan D., Tang J., Thiessen N., Triche T., Van Den Berg D.J., Veluvolu U., Waring S., Weisenberger D.J., Wilkerson M.D., Wong T., Wu J., Xi L., Xu A.W., Zack T.I., Zhang J., Aksoy B.A., Arachchi H., Benz C., Bernard B., Carlin D., Cho J., DiCara D., Frazer S., Fuller G.N., Gao J., Gehlenborg N., Haussler D., Heiman D.I., Iype L., Jacobsen A., Ju Z., Katzman S., Kim H., Knijnenburg T., Kreisberg R.B., Lawrence M.S., Lee W., Leinonen K., Lin P., Ling S., Liu W., Liu Y., Lu Y., Mills G., Ng S., Noble M.S., Paull E., Rao A., Reynolds S., Saksena G., Sanborn Z., Sander C., Schultz N., Senbabaoglu Y., Shen R., Shmulevich I., Sinha R., Stuart J., Sumer S.O., Sun Y., Tasman N., Taylor B.S., Voet D., Weinhold N., Weinstein J.N., Yang D., Yoshihara K., Zheng S., Zhang W., Zou L., Abel T., Sadeghi S., Cohen M.L., Eschbacher J., Hattab E.M., Raghunathan A., Schniederjan M.J., Aziz D., Barnett G., Barrett W., Bigner D.D., Boice L., Brewer C., Calatozzolo C., Campos B., Carlotti C.G., Chan T.A., Cuppini L., Curley E., Cuzzubbo S., Devine K., DiMeco F., Duell R., Elder J.B., Fehrenbach A., Finocchiaro G., Friedman W., Fulop J., Gardner J., Hermes B., Herold-Mende C., Jungk C., Kendler A., Lehman N.L., Lipp E., Liu O., Mandt R., McGraw M., Mclendon R., McPherson C., Neder L., Nguyen P., Noss A., Nunziata R., Ostrom Q.T., Palmer C., Perin A., Pollo B., Potapov A., Potapova O., Rathmell W.K., Rotin D., Scarpace L., Schilero C., Senecal K., Shimmel K., Shurkhay V., Sifri S., Singh R., Sloan A.E., Smolenski K., Staugaitis S.M., Steele R., Thorne L., Tirapelli D.P.C., Unterberg A., Vallurupalli M., Wang Y., Warnick R., Williams F., Wolinsky Y., Bell S., Rosenberg M., Stewart C., Huang F., Grimsby J.L., Radenbaugh A.J.
المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USPمصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, IDH1, Adolescent, Kaplan-Meier Estimate, 1p/19q Codeletion, Biology, Article, Glioma, Molecular genetics, Grade II Glioma, medicine, Cluster Analysis, Humans, neoplasms, Exome, ATRX, Proportional Hazards Models, Aged, Cluster Analysi, DNA, Neoplasm, Sequence Analysis, DNA, General Medicine, Middle Aged, Genes, p53, medicine.disease, Chromosomes, Human, Pair 1, Mutation, Proportional Hazards Model, Cancer research, GLIOMA, Female, Oligodendroglioma, Neoplasm Grading, Glioblastoma, Chromosomes, Human, Pair 19, Human, Signal Transduction
وصف الملف: application/pdf; STAMPA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6678eeed8340c293a6651ee6ab2d2c5bTest
https://doi.org/10.1056/nejmoa1402121Test -
2
المؤلفون: David W. Ellison
المصدر: New England Journal of Medicine. 372:2555-2557
مصطلحات موضوعية: Male, Computational biology, Biology, medicine.disease_cause, Article, Transcriptome, medicine, Humans, Telomerase, Gene, Exome, Genetics, Mutation, MicroRNA sequencing, Cancer, DNA, Neoplasm, Glioma, General Medicine, Genes, p53, Precision medicine, medicine.disease, Isocitrate Dehydrogenase, Chromosomes, Human, Pair 1, DNA methylation, Female, Chromosomes, Human, Pair 19
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d6f6265f5fb607a52051387acf1c083Test
https://doi.org/10.1056/nejme1506813Test -
3
المؤلفون: Kjell Tullus, Christina Sterner, Ruchi Arora, Guida Landouré, Sally Feather, Michael J. Dillon, Mauricio Arcos-Burgos, Mark A Knepper, Markus Reichold, Omar Al Masri, Jonathan Tobin, Eamonn Sheridan, Anselm A. Zdebik, William A. Gahl, Dorothy A. Thompson, Yair Anikster, Sascha Bandulik, Richard Warth, Horia Stanescu, Robert Kleta, J. Helen Cross, Tony Sirimanna, Stella Yeung, Angus Dobbie, Detlef Bockenhauer, Mike Hubank, Dirk Heitzmann, William van’t Hoff, E Lieberer, Enriko Klootwijk
المصدر: New England Journal of Medicine. 360:1960-1970
مصطلحات موضوعية: Male, medicine.medical_specialty, Candidate gene, Renal Tubular Transport, Inborn Errors, Ataxia, Hearing Loss, Sensorineural, Molecular Sequence Data, Mutation, Missense, Genes, Recessive, Locus (genetics), KCNJ10, Mice, Epilepsy, Tubulopathy, Genetic linkage, Internal medicine, medicine, EAST syndrome, Animals, Humans, Amino Acid Sequence, Potassium Channels, Inwardly Rectifying, Mice, Knockout, Genetics, biology, business.industry, Sodium, Sequence Analysis, DNA, Syndrome, General Medicine, medicine.disease, Pedigree, Phenotype, Endocrinology, Chromosomes, Human, Pair 1, Child, Preschool, Potassium, biology.protein, Female, Lod Score, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea65160702f632bde0c7ad2915c87972Test
https://doi.org/10.1056/nejmoa0810276Test -
4
المؤلفون: Mariza de Andrade, John C. Burnett, Kathleen J. Herron, Jeffrey D. Ballew, Margaret L. Karst, Dawood Darbar, Denice M. Hodgson-Zingman, Denise M. Heublein, Timothy M. Olson, Leonid V. Zingman
المصدر: New England Journal of Medicine. 359:158-165
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Heart disease, DNA Mutational Analysis, Guanosine Monophosphate, Action Potentials, Locus (genetics), Article, White People, Frameshift mutation, chemistry.chemical_compound, Atrial natriuretic peptide, Internal medicine, Atrial Fibrillation, Guanosine monophosphate, medicine, Animals, Humans, cardiovascular diseases, Frameshift Mutation, business.industry, Chromosome Mapping, Atrial fibrillation, General Medicine, Middle Aged, medicine.disease, NPR2, Pedigree, Endocrinology, chemistry, Chromosomes, Human, Pair 1, cardiovascular system, Female, business, Atrial Natriuretic Factor, Familial atrial fibrillation, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85a601a8d0cdf5d0fb4345922ffa35a3Test
https://doi.org/10.1056/nejmoa0706300Test -
5
المؤلفون: Hiroyuki Shimada, Wendy B. London, John M. Maris, Patrick McGrady, Cynthia Winter, Garrett M. Brodeur, Robert C. Seeger, Edward F. Attiyeh, Yael P. Mosse, Deepa Khazi, Qun Wang, Susan L. Cohn, Katherine K. Matthay, A. Thomas Look
المصدر: New England Journal of Medicine. 353:2243-2253
مصطلحات موضوعية: Genetic Markers, Oncology, medicine.medical_specialty, Pathology, endocrine system diseases, Loss of Heterozygosity, N-Myc Proto-Oncogene Protein, Disease-Free Survival, Loss of heterozygosity, Neuroblastoma, Risk Factors, Internal medicine, medicine, Humans, neoplasms, Survival analysis, Proportional Hazards Models, Oncogene Proteins, Analysis of Variance, Proportional hazards model, business.industry, Chromosomes, Human, Pair 11, Gene Amplification, Infant, Nuclear Proteins, Chromosome, General Medicine, Familial Neuroblastoma, medicine.disease, Survival Analysis, digestive system diseases, stomatognathic diseases, Chromosomes, Human, Pair 1, Genetic marker, business, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f59cc919eb649ca3eb423589e59cd38eTest
https://doi.org/10.1056/nejmoa052399Test -
6
المصدر: New England Journal of Medicine. 364:488-490
مصطلحات موضوعية: medicine.medical_specialty, Pathology, Myeloid, hemic and lymphatic diseases, Biopsy, medicine, Humans, Secondary Acute Myeloid Leukemia, SNP, Neoplasm, Myeloproliferative Disorders, Janus kinase 2, biology, medicine.diagnostic_test, business.industry, General Medicine, Genes, p53, medicine.disease, Leukemia, Myeloid, Acute, Leukemia, Cell Transformation, Neoplastic, medicine.anatomical_structure, Chromosomes, Human, Pair 1, Mutation, biology.protein, Cancer research, Medical genetics, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ceda7024a06440414d4372a8c547cd7Test
https://doi.org/10.1056/nejmc1012718Test -
7
المؤلفون: Calum A. MacRae, Umberto De Girolami, Diane Fatkin, Christine E. Seidman, Humberto Vidaillet, Barbara McDonough, Serena Spudich, Michael P. Frenneaux, John Atherton, Takeshi Sasaki, Matthew R. Wolff, G. W. F. Muehle, Wendy Johnson, Francesco Muntoni, Jonathan G. Seidman, Maurizio Porcu
المصدر: New England Journal of Medicine. 341:1715-1724
مصطلحات موضوعية: Adult, Cardiomyopathy, Dilated, Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Genotype, Molecular Sequence Data, Mutation, Missense, Cardiomyopathy, Emerin, Laminopathy, Biology, LMNA, Cardiac conduction, medicine, Humans, Protein Isoforms, Missense mutation, Amino Acid Sequence, Muscular dystrophy, Emery–Dreifuss muscular dystrophy, Genes, Dominant, Genetics, Chromosome Mapping, Nuclear Proteins, Arrhythmias, Cardiac, Sequence Analysis, DNA, General Medicine, Middle Aged, Lamin Type A, medicine.disease, Lamins, Muscular Dystrophy, Emery-Dreifuss, Pedigree, Chromosomes, Human, Pair 1, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e42b4a44cc14b1b125ca25e3382a7ecTest
https://doi.org/10.1056/nejm199912023412302Test -
8
المصدر: New England Journal of Medicine. 363:2462-2463
مصطلحات موضوعية: medicine.medical_specialty, Very low-density lipoprotein, Lipoproteins, Myocardial Infarction, Locus (genetics), Coronary Artery Disease, Lipoproteins, VLDL, Polymorphism, Single Nucleotide, Coronary artery disease, chemistry.chemical_compound, Internal medicine, medicine, Humans, Myocardial infarction, Binding Sites, Cholesterol, business.industry, Chromosome, Cholesterol, LDL, General Medicine, medicine.disease, Adaptor Proteins, Vesicular Transport, Endocrinology, Gene Expression Regulation, Liver, chemistry, Chromosomes, Human, Pair 1, Relative risk, CCAAT-Enhancer-Binding Proteins, lipids (amino acids, peptides, and proteins), business, Lipoprotein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f33dd351ac99ee78d2acc4d4ebb897c2Test
https://doi.org/10.1056/nejmcibr1010765Test -
9
المؤلفون: Bergman W, Rune R. Frants, Gruis Na
المصدر: New England Journal of Medicine. 322:853-854
مصطلحات موضوعية: Genetics, Skin Neoplasms, Genetic Linkage, business.industry, Melanoma, Locus (genetics), General Medicine, medicine.disease, Chromosomes, Human, Pair 1, medicine, Humans, business, Dysplastic Nevus Syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90bdcf436ba8eb2d05e9b08466f1558aTest
https://doi.org/10.1056/nejm199003223221217Test