Artículos de revistas sobre el tema "Variante somatica"
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Bennett, Mark F., Michael S. Hildebrand, Sayaka Kayumi, Mark A. Corbett, Sachin Gupta, Zimeng Ye, Michael Krivanek et al. "Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and Epilepsy". Neurology Genetics 8, n.º 1 (25 de enero de 2022): e0652. http://dx.doi.org/10.1212/nxg.0000000000000652.
Texto completoUra, Hiroki, Sumihito Togi y Yo Niida. "Dual Deep Sequencing Improves the Accuracy of Low-Frequency Somatic Mutation Detection in Cancer Gene Panel Testing". International Journal of Molecular Sciences 21, n.º 10 (16 de mayo de 2020): 3530. http://dx.doi.org/10.3390/ijms21103530.
Texto completoDas, Kingshuk, Amber Carter, Brandie Heald, Scott T. Michalski, Sarah M. Nielsen, Nhu Ngo, Sara Elrefai et al. "Integrated germline and somatic cancer testing provides opportunity to identify cancer risk and resolve variant origins." Journal of Clinical Oncology 40, n.º 16_suppl (1 de junio de 2022): 10589. http://dx.doi.org/10.1200/jco.2022.40.16_suppl.10589.
Texto completoTsuchida, Naomi, Yosuke Kunishita, Yuri Uchiyama, Yohei Kirino, Makiko Enaka, Yukie Yamaguchi, Masataka Taguri et al. "Pathogenic UBA1 variants associated with VEXAS syndrome in Japanese patients with relapsing polychondritis". Annals of the Rheumatic Diseases 80, n.º 8 (31 de marzo de 2021): 1057–61. http://dx.doi.org/10.1136/annrheumdis-2021-220089.
Texto completoFujita, Atsushi, Takefumi Higashijima, Hiroshi Shirozu, Hiroshi Masuda, Masaki Sonoda, Jun Tohyama, Mitsuhiro Kato et al. "Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma". Neurology 93, n.º 3 (13 de junio de 2019): e237-e251. http://dx.doi.org/10.1212/wnl.0000000000007774.
Texto completoWu, Yanqing, Wenzhe Fan, Miao Xue, Yiyang Tang, Suo Peisu, Bo Yang, Tanxiao Huang, Jing Zhang y Jiaping Li. "TP53 pathogenic variants with low allele fraction in germline genetic testing." Journal of Clinical Oncology 40, n.º 16_suppl (1 de junio de 2022): 10600. http://dx.doi.org/10.1200/jco.2022.40.16_suppl.10600.
Texto completoBrown, Natasha J., Zimeng Ye, Chloe Stutterd, Sureshni I. Jayasinghe, Amy Schneider, Saul Mullen, Simone A. Mandelstam y Michael S. Hildebrand. "Somatic IDH1 variant (p.R132C) in an adult male with Maffucci syndrome". Molecular Case Studies 7, n.º 6 (29 de septiembre de 2021): a006127. http://dx.doi.org/10.1101/mcs.a006127.
Texto completoKhanna, Shivani, Steven Brad Maron, Leah Chase, Samantha Lomnicki, Sonia Kupfer y Daniel V. T. Catenacci. "Suspected and confirmed germline variants from tumor-only somatic sequencing of 864 gastrointestinal malignancies." Journal of Clinical Oncology 37, n.º 15_suppl (20 de mayo de 2019): e13131-e13131. http://dx.doi.org/10.1200/jco.2019.37.15_suppl.e13131.
Texto completoMichalski, Scott T., Daniel Esteban Pineda Alvarez, Meaghan Russell, Shan Yang, Guru Sonpavde y Edward D. Esplin. "Tumor sequencing with germline genetic testing: Identification of patients with hereditary cancer and precision treatment eligibility." Journal of Clinical Oncology 37, n.º 15_suppl (20 de mayo de 2019): 1580. http://dx.doi.org/10.1200/jco.2019.37.15_suppl.1580.
Texto completoSancho-Galán, Pau, Antonio Amores-Arrocha, Víctor Palacios y Ana Jiménez-Cantizano. "Preliminary Study of Somatic Variants of Palomino Fino (Vitis vinifera L.) Grown in a Warm Climate Region (Andalusia, Spain)". Agronomy 10, n.º 5 (4 de mayo de 2020): 654. http://dx.doi.org/10.3390/agronomy10050654.
Texto completoChin, Diana, Matthew A. Kutny, Jonathan Grim, Robert B. Gerbing, Kristen Miller, Jason E. Farrar, Jaime M. Guidry Auvil et al. "Comprehensive Genomic and Transcript Profiling of CBL Gene in Childhood AML: A Report from Children's Oncology Group Studies AAML03P1, AAML0531 and COG/NCI Target AML Initiative". Blood 126, n.º 23 (3 de diciembre de 2015): 170. http://dx.doi.org/10.1182/blood.v126.23.170.170.
Texto completoPeculis, Raitis, Vita Rovite, Kaspars Megnis, Inga Balcere, Austra Breiksa, Jurijs Nazarovs, Janis Stukens et al. "Whole exome sequencing reveals novel risk genes of pituitary neuroendocrine tumors". PLOS ONE 17, n.º 8 (26 de agosto de 2022): e0265306. http://dx.doi.org/10.1371/journal.pone.0265306.
Texto completoMoody, Emily W., Jennie Vagher, Whitney Espinel, David Goldgar, Kelsi J. Hagerty y Amanda Gammon. "Comparison of Somatic and Germline Variant Interpretation in Hereditary Cancer Genes". JCO Precision Oncology, n.º 3 (diciembre de 2019): 1–8. http://dx.doi.org/10.1200/po.19.00144.
Texto completoSmith, Kyle S., Vinod K. Yadav, Shanshan Pei, Daniel A. Pollyea, Craig T. Jordan y Subhajyoti De. "SomVarIUS: somatic variant identification from unpaired tissue samples". Bioinformatics 32, n.º 6 (20 de noviembre de 2015): 808–13. http://dx.doi.org/10.1093/bioinformatics/btv685.
Texto completoChowdhury, Murad, Brent S. Pedersen, Fritz J. Sedlazeck, Aaron R. Quinlan y Ryan M. Layer. "Searching thousands of genomes to classify somatic and novel structural variants using STIX". Nature Methods 19, n.º 4 (abril de 2022): 445–48. http://dx.doi.org/10.1038/s41592-022-01423-4.
Texto completoGilmore, G. L., J. Q. Yang, K. B. Marcu y B. K. Birshtein. "Absence of somatic mutation in the variable region of MPC 11 variants expressing a different heavy chain isotype." Journal of Immunology 139, n.º 2 (15 de julio de 1987): 619–24. http://dx.doi.org/10.4049/jimmunol.139.2.619.
Texto completoKoehler, Viktoria Florentine, Pia Adam, Carmina Teresa Fuss, Linmiao Jiang, Elke Berg, Karin Frank-Raue, Friedhelm Raue et al. "Treatment of RET-Positive Advanced Medullary Thyroid Cancer with Multi-Tyrosine Kinase Inhibitors—A Retrospective Multi-Center Registry Analysis". Cancers 14, n.º 14 (13 de julio de 2022): 3405. http://dx.doi.org/10.3390/cancers14143405.
Texto completoLim, Tristan L., David B. Lieberman, Adam R. Davis, Ryan Hausler, Ashkan Bigdeli, Yimei Li, Jacquelyn Powers et al. "Germline POT1 Variants Can Predispose to a Variety of Hematologic Neoplasms". Blood 136, Supplement 1 (5 de noviembre de 2020): 2–4. http://dx.doi.org/10.1182/blood-2020-134160.
Texto completoHutter, Stephan, Niroshan Nadarajah, Manja Meggendorfer, Wolfgang Kern, Torsten Haferlach y Claudia Haferlach. "Whole Genome Sequencing in Routine Hematologic Samples: How to Proceed Analyses Best When Germline Controls Are Missing?" Blood 132, Supplement 1 (29 de noviembre de 2018): 5275. http://dx.doi.org/10.1182/blood-2018-99-113294.
Texto completoSubbotina, T. N., I. E. Maslyukova, A. A. Faleeva, P. A. Nikolaeva, A. S. Khazieva, E. A. Dunaeva, K. O. Mironov et al. "Using the Minor Variant Finder software to identify and quantify the allelic burden level of somatic mutations in oncohematologic diseases". Oncohematology 15, n.º 2 (16 de julio de 2020): 85–91. http://dx.doi.org/10.17650/1818-8346-2020-15-2-85-91.
Texto completoShao, Xiangqiang, Shruti Rao, Coumarane Mani, Jason Saliba, Rong He, Chimene Kesserwan, Arpad Danos et al. "Expert Curation of Somatic FLT3 Variants By the Clingen Somatic Hematologic Cancer Taskforce (ClinGen HCT)". Blood 138, Supplement 1 (5 de noviembre de 2021): 4387. http://dx.doi.org/10.1182/blood-2021-153546.
Texto completoKaur, Pushpinder, Daniel Campo, Tania B. Porras, Alexander Ring, Janice Lu, Yvonne Chairez, Yunyun Su, Irene Kang y Julie E. Lang. "A Pilot Study for the Feasibility of Exome-Sequencing in Circulating Tumor Cells Versus Single Metastatic Biopsies in Breast Cancer". International Journal of Molecular Sciences 21, n.º 14 (8 de julio de 2020): 4826. http://dx.doi.org/10.3390/ijms21144826.
Texto completoKueffner, Robert, Hui Li, Kakit Cheung, Marc Fink, Zachry Soens, Jinlian Wang, Osman Siddiqui et al. "VONC: A solution for the clinical assessment of somatic genomic alterations." Journal of Clinical Oncology 37, n.º 15_suppl (20 de mayo de 2019): e13155-e13155. http://dx.doi.org/10.1200/jco.2019.37.15_suppl.e13155.
Texto completoChuang, Huai-Chia, Wei-Ting Hung, Yi-Ming Chen, Pu-Ming Hsu, Jeng-Hsien Yen, Joung-Liang Lan y Tse-Hua Tan. "Genomic sequencing and functional analyses identify MAP4K3/GLK germline and somatic variants associated with systemic lupus erythematosus". Annals of the Rheumatic Diseases 81, n.º 2 (5 de octubre de 2021): 243–54. http://dx.doi.org/10.1136/annrheumdis-2021-221010.
Texto completoChuang, Huai-Chia, Wei-Ting Hung, Yi-Ming Chen, Pu-Ming Hsu, Jeng-Hsien Yen, Joung-Liang Lan y Tse-Hua Tan. "Genomic sequencing and functional analyses identify MAP4K3/GLK germline and somatic variants associated with systemic lupus erythematosus". Annals of the Rheumatic Diseases 81, n.º 2 (5 de octubre de 2021): 243–54. http://dx.doi.org/10.1136/annrheumdis-2021-221010.
Texto completoO’Sullivan, Brian y Cathal Seoighe. "vcfView: An Extensible Data Visualization and Quality Assurance Platform for Integrated Somatic Variant Analysis". Cancer Informatics 19 (enero de 2020): 117693512097237. http://dx.doi.org/10.1177/1176935120972377.
Texto completoJürgens, Lara, Felix Manske, Elvira Hubert, Tabea Kischka, Lea Flötotto, Oliver Klaas, Victoria Shabardina, Christoph Schliemann, Wojciech Makalowski y Klaus Wethmar. "Somatic Functional Deletions of Upstream Open Reading Frame-Associated Initiation and Termination Codons in Human Cancer". Biomedicines 9, n.º 6 (29 de mayo de 2021): 618. http://dx.doi.org/10.3390/biomedicines9060618.
Texto completoBaer, Constance Regina, Niroshan Nadarajah, Claudia Haferlach, Wolfgang Kern y Torsten Haferlach. "A Study on Paired Tissue Sequencing in Hematologic Diseases to Distinguish Somatic from Germline Sequence Variants in Routine Diagnostics". Blood 128, n.º 22 (2 de diciembre de 2016): 5511. http://dx.doi.org/10.1182/blood.v128.22.5511.5511.
Texto completoEng, Whitney, Christopher L. Sudduth, Dennis J. Konczyk, Patrick J. Smits, Amir H. Taghinia, Steven J. Fishman, Ahmad Alomari, Denise M. Adams y Arin K. Greene. "Parkes Weber syndrome with lymphedema caused by a somatic KRAS variant". Molecular Case Studies 7, n.º 6 (4 de octubre de 2021): a006118. http://dx.doi.org/10.1101/mcs.a006118.
Texto completoEng, Whitney, Christopher L. Sudduth, Dennis J. Konczyk, Patrick J. Smits, Amir H. Taghinia, Steven J. Fishman, Ahmad Alomari, Denise M. Adams y Arin K. Greene. "Parkes Weber syndrome with lymphedema caused by a somatic KRAS variant". Molecular Case Studies 7, n.º 6 (4 de octubre de 2021): a006118. http://dx.doi.org/10.1101/mcs.a006118.
Texto completoFaienza, Maria F., Mariangela Chiarito, Fulvia Baldinotti, Domenico Canale, Carmela Savino, Guglielmo Paradies, Domenico Corica et al. "NR5A1 Gene Variants: Variable Phenotypes, New Variants, Different Outcomes". Sexual Development 13, n.º 5-6 (2019): 258–63. http://dx.doi.org/10.1159/000507411.
Texto completoSaliba, Jason, Gordana Raca, Angshumoy Roy, Ian King, Shamini Selvarajah, Xinjie Xu, Rashmi Kanagal-Shamanna et al. "Abstract 1192: The Clinical Genome Resource (ClinGen) somatic cancer clinical domain working group". Cancer Research 82, n.º 12_Supplement (15 de junio de 2022): 1192. http://dx.doi.org/10.1158/1538-7445.am2022-1192.
Texto completoKanagal-Shamanna, Rashmi, Shruti Rao, Panieh Terraf, Gordana Raca, Jason Saliba, Arpad Danos, Coumarane Mani et al. "Expert Curation of Somatic Variants in Hematological Malignancies By the Clingen Somatic Hematological Cancer Taskforce (ClinGen HCT)". Blood 136, Supplement 1 (5 de noviembre de 2020): 23. http://dx.doi.org/10.1182/blood-2020-143028.
Texto completoAydemirli, M. D., K. van der Tuin, F. J. Hes, A. M. W. van den Ouweland, T. van Wezel, E. Kapiteijn y H. Morreau. "A unique case of two somatic APC mutations in an early onset cribriform-morular variant of papillary thyroid carcinoma and overview of the literature". Familial Cancer 19, n.º 1 (9 de octubre de 2019): 15–21. http://dx.doi.org/10.1007/s10689-019-00146-4.
Texto completote Paske, Iris B. A. W., José Garcia-Pelaez, Anna K. Sommer, Leslie Matalonga, Teresa Starzynska, Anna Jakubowska, Laura Valle et al. "A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report". European Journal of Human Genetics 29, n.º 9 (1 de junio de 2021): 1354–58. http://dx.doi.org/10.1038/s41431-021-00853-6.
Texto completoMerker, Jason D., Kelly Devereaux, A. John Iafrate, Suzanne Kamel-Reid, Annette S. Kim, Joel T. Moncur, Stephen B. Montgomery et al. "Proficiency Testing of Standardized Samples Shows Very High Interlaboratory Agreement for Clinical Next-Generation Sequencing–Based Oncology Assays". Archives of Pathology & Laboratory Medicine 143, n.º 4 (30 de octubre de 2018): 463–71. http://dx.doi.org/10.5858/arpa.2018-0336-cp.
Texto completoArnaud, Pauline, Hélène Morel, Olivier Milleron, Laurent Gouya, Christine Francannet, Antoine Da Costa, Carine Le Goff, Guillaume Jondeau, Catherine Boileau y Nadine Hanna. "Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome". Genetics in Medicine 23, n.º 5 (25 de enero de 2021): 865–71. http://dx.doi.org/10.1038/s41436-020-01078-6.
Texto completoFroyen, Guy, Marie Le Mercier, Els Lierman, Karl Vandepoele, Friedel Nollet, Elke Boone, Joni Van der Meulen et al. "Standardization of Somatic Variant Classifications in Solid and Haematological Tumours by a Two-Level Approach of Biological and Clinical Classes: An Initiative of the Belgian ComPerMed Expert Panel". Cancers 11, n.º 12 (16 de diciembre de 2019): 2030. http://dx.doi.org/10.3390/cancers11122030.
Texto completoSürün, Bilge, Charlotta P. I. Schärfe, Mathew R. Divine, Julian Heinrich, Nora C. Toussaint, Lukas Zimmermann, Janina Beha y Oliver Kohlbacher. "ClinVAP: a reporting strategy from variants to therapeutic options". Bioinformatics 36, n.º 7 (12 de diciembre de 2019): 2316–17. http://dx.doi.org/10.1093/bioinformatics/btz924.
Texto completoKraft, Ira Lignugaris, Amy M. Trottier, George F. Steinhardt, Nifang Niu, Pankhuri Wanjari, Wenjun Chen, Jeremy Segal y Lucy A. Godley. "Using sequential next-generation sequencing assays to identify germline cancer predisposition variants." Journal of Clinical Oncology 38, n.º 15_suppl (20 de mayo de 2020): 1581. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.1581.
Texto completoLeonardi, Emanuela, Mariagrazia Bellini, Maria C. Aspromonte, Roberta Polli, Anna Mercante, Claudia Ciaccio, Elisa Granocchio et al. "A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES)". Genes 11, n.º 3 (24 de marzo de 2020): 344. http://dx.doi.org/10.3390/genes11030344.
Texto completoCorrea, Ricardo, Mihail Zilbermint, Annabel Berthon, Stephanie Espiard, Maria Batsis, Georgios Z. Papadakis, Paraskevi Xekouki et al. "The ARMC5 gene shows extensive genetic variance in primary macronodular adrenocortical hyperplasia". European Journal of Endocrinology 173, n.º 4 (octubre de 2015): 435–40. http://dx.doi.org/10.1530/eje-15-0205.
Texto completoCarlston, Colleen M., Anne H. O'Donnell-Luria, Hunter R. Underhill, Beryl B. Cummings, Ben Weisburd, Eric V. Minikel, Daniel P. Birnbaum, Tatiana Tvrdik, Daniel G. MacArthur y Rong Mao. "Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome". Human Mutation 38, n.º 5 (21 de marzo de 2017): 517–23. http://dx.doi.org/10.1002/humu.23203.
Texto completoSimms, L. J., J. J. Prisciandaro, R. F. Krueger y D. P. Goldberg. "The structure of depression, anxiety and somatic symptoms in primary care". Psychological Medicine 42, n.º 1 (20 de junio de 2011): 15–28. http://dx.doi.org/10.1017/s0033291711000985.
Texto completoMacFarland, Suzanne P., Kristin Zelley, Lea F. Surrey, Daniel Gallo, Minjie Luo, Pichai Raman, Gerald Wertheim, Stephen P. Hunger, Marilyn M. Li y Garrett M. Brodeur. "Pediatric Somatic Tumor Sequencing Identifies Underlying Cancer Predisposition". JCO Precision Oncology, n.º 3 (diciembre de 2019): 1–26. http://dx.doi.org/10.1200/po.19.00062.
Texto completoMcCoy, Matthew, Shruti Rao, Shannon Cosgrove, Subha Madhavan, Shashikant Kulkarni, Xinjie Xu y Rashmi Kanagal-Shamanna. "Expert Variant Curation Combined with in-Silico analysis for Clinical Interpretation of BCL2 variants in Resistance to BCL2 Inhibitors in Chronic Lymphocytic Leukemia/ Small Lymphocytic Lymphoma". Blood 136, Supplement 1 (5 de noviembre de 2020): 42–43. http://dx.doi.org/10.1182/blood-2020-143073.
Texto completoWeerts, Marjolein, Marcel Smid, John Foekens, Stefan Sleijfer y John Martens. "Mitochondrial RNA Expression and Single Nucleotide Variants in Association with Clinical Parameters in Primary Breast Cancers". Cancers 10, n.º 12 (9 de diciembre de 2018): 500. http://dx.doi.org/10.3390/cancers10120500.
Texto completoSinghal, Deepak, Christopher N. Hahn, Luke D. Moma, Li Yan A. Wee, Rakchha Chhetri, Milena Babic, Monika M. Kutyna et al. "Deleterious Germline Variants, Especially in the DNA Repair Pathway, Are Common in Patients with Non-Related Multiple Cancers, One of Them Being Hematological Malignancy". Blood 134, Supplement_1 (13 de noviembre de 2019): 1704. http://dx.doi.org/10.1182/blood-2019-126462.
Texto completoMurley, Alexander G., Yu Nie, Zoe Golder, Michael John Keogh, Colin Smith, James W. Ironside y Patrick F. Chinnery. "High-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob Disease". Neurology Genetics 9, n.º 1 (19 de enero de 2023): e200054. http://dx.doi.org/10.1212/nxg.0000000000200054.
Texto completoRicker, Charité, Erika Amundson, Sandra Algaze, Marcia Ciccone, Stephen Dong, Anishka D'souza, Kimberly Felicetti et al. "Assessing somatic and germline variants in cancer patients." Journal of Clinical Oncology 39, n.º 15_suppl (20 de mayo de 2021): 10601. http://dx.doi.org/10.1200/jco.2021.39.15_suppl.10601.
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