Journal articles on the topic 'Mutation-specific'
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Erdem-Eraslan, Lale, Ya Gao, Nanne K. Kloosterhof, et al. "Mutation specific functions of EGFR result in a mutation-specific downstream pathway activation." European Journal of Cancer 51, no. 7 (2015): 893–903. http://dx.doi.org/10.1016/j.ejca.2015.02.006.
Full textKerem, Eitan. "Mutation specific therapy in CF." Paediatric Respiratory Reviews 7 (January 2006): S166—S169. http://dx.doi.org/10.1016/j.prrv.2006.04.213.
Full textAlderton, Gemma K. "Cancer mutation-specific immune responses." Nature Reviews Cancer 14, no. 6 (2014): 387. http://dx.doi.org/10.1038/nrc3763.
Full textErdem-Eraslan, L., Y. Gao, N. Kloosterhof, et al. "CS-05 * MUTATION SPECIFIC FUNCTIONS OF EGFR RESULT IN A MUTATION-SPECIFIC DOWNSTREAM PATHWAY ACTIVATION." Neuro-Oncology 16, suppl 5 (2014): v52. http://dx.doi.org/10.1093/neuonc/nou242.5.
Full textHarper, P. S. "A specific mutation for Huntington's disease." Journal of Medical Genetics 30, no. 12 (1993): 975–77. http://dx.doi.org/10.1136/jmg.30.12.975.
Full textSchmid, Fabian, Esther Glaus, Frans P. M. Cremers, Barbara Kloeckener-Gruissem, Wolfgang Berger, and John Neidhardt. "Mutation- and Tissue-Specific Alterations ofRPGRTranscripts." Investigative Opthalmology & Visual Science 51, no. 3 (2010): 1628. http://dx.doi.org/10.1167/iovs.09-4031.
Full textvon Deimling, Andreas, Felix Sahm, and David Capper. "Mutation specific antibodies: tool or dinosaur?" Oncotarget 3, no. 9 (2012): 907–8. http://dx.doi.org/10.18632/oncotarget.633.
Full textHeinen, Charlotte A., Aldo Jongejan, Peter J. Watson, et al. "A specific mutation inTBL1XR1causes Pierpont syndrome." Journal of Medical Genetics 53, no. 5 (2016): 330–37. http://dx.doi.org/10.1136/jmedgenet-2015-103233.
Full textTurchini, John, Juliana Andrici, Loretta Sioson, et al. "NRASQ61R Mutation-specific Immunohistochemistry is Highly Specific for Either NRASQ61R or KRASQ61R Mutation in Colorectal Carcinoma." Applied Immunohistochemistry & Molecular Morphology 25, no. 7 (2017): 475–80. http://dx.doi.org/10.1097/pai.0000000000000333.
Full textArdicli, D., B. Konuskan, G. Haliloglu, M. Alikasifoglu, and H. Topaloğlu. "Nonsense mutation dystrophinopathy: How mutation-specific treatments changed our clinical practice?" Neuromuscular Disorders 25 (October 2015): S253. http://dx.doi.org/10.1016/j.nmd.2015.06.247.
Full textDrake, John W. "Contrasting Mutation Rates from Specific-Locus and Long-Term Mutation-Accumulation Procedures." G3: Genes|Genomes|Genetics 2, no. 4 (2012): 483–85. http://dx.doi.org/10.1534/g3.111.001842.
Full textKitamura, Atsuko, Waki Hosoda, Eiichi Sasaki, Tetsuya Mitsudomi, and Yasushi Yatabe. "Immunohistochemical Detection of EGFR Mutation Using Mutation-Specific Antibodies in Lung Cancer." Clinical Cancer Research 16, no. 13 (2010): 3349–55. http://dx.doi.org/10.1158/1078-0432.ccr-10-0129.
Full textCHIAL1, H. "Megacolon associated with a specific genetic mutation." American Journal of Gastroenterology 96, no. 9 (2001): S188. http://dx.doi.org/10.1016/s0002-9270(01)03374-3.
Full textAmbrosini-Spaltro, Andrea, Nicoletta Campanini, Beatrice Bortesi, et al. "EGFR Mutation-specific Antibodies in Pulmonary Adenocarcinoma." Applied Immunohistochemistry & Molecular Morphology 20, no. 4 (2012): 356–62. http://dx.doi.org/10.1097/pai.0b013e31823e064b.
Full textWillyard, Cassandra. "Companies compete over mutation-specific melanoma drugs." Nature Medicine 17, no. 3 (2011): 268. http://dx.doi.org/10.1038/nm0311-268a.
Full textSanders, D. B., and P. M. Farrell. "Transformative mutation specific pharmacotherapy for cystic fibrosis." BMJ 344, jan09 1 (2012): e79-e79. http://dx.doi.org/10.1136/bmj.e79.
Full textMøller, P., Å. Borg, G. Evans, et al. "Mutation-Specific Survival of Inherited Breast Cancer." Disease Markers 15, no. 1-3 (1999): 205. http://dx.doi.org/10.1155/1999/902648.
Full textGusmão, L., P. Sánchez-Diz, F. Calafell, et al. "Mutation rates at Y chromosome specific microsatellites." Human Mutation 26, no. 6 (2005): 520–28. http://dx.doi.org/10.1002/humu.20254.
Full textFlanigan, Kevin M. "Mutation-specific database and bioinformatics resource forDMD." Human Mutation 30, no. 6 (2009): v. http://dx.doi.org/10.1002/humu.21051.
Full textRitterhouse, Lauren L., and Justine A. Barletta. "BRAF V600E mutation-specific antibody: A review." Seminars in Diagnostic Pathology 32, no. 5 (2015): 400–408. http://dx.doi.org/10.1053/j.semdp.2015.02.010.
Full textEllegren, Hans, and Anna-Karin Fridolfsson. "Sex-Specific Mutation Rates in Salmonid Fish." Journal of Molecular Evolution 56, no. 4 (2003): 458–63. http://dx.doi.org/10.1007/s00239-002-2416-z.
Full textRonzier, Elsa, Alessandra Matavel, Yitschak Biton, et al. "Mutation-Specific Cardiac Risk Assessment in LQT3." Biophysical Journal 110, no. 3 (2016): 34a. http://dx.doi.org/10.1016/j.bpj.2015.11.250.
Full textCapper, David, Hanswalter Zentgraf, Jörg Balss, Christian Hartmann, and Andreas von Deimling. "Monoclonal antibody specific for IDH1 R132H mutation." Acta Neuropathologica 118, no. 5 (2009): 599–601. http://dx.doi.org/10.1007/s00401-009-0595-z.
Full textPartridge, M., G. Emilion, M. Falworth, et al. "Patient-specific mutation databases for oral cancer." International Journal of Cancer 84, no. 3 (1999): 284–92. http://dx.doi.org/10.1002/(sici)1097-0215(19990621)84:3<284::aid-ijc15>3.0.co;2-y.
Full textByers, Richard, Jason L. Hornick, Eleni Tholouli, Jeffery Kutok, and Scott J. Rodig. "Detection of IDH1 R132H Mutation in Acute Myeloid Leukemia by Mutation-specific Immunohistochemistry." Applied Immunohistochemistry & Molecular Morphology 20, no. 1 (2012): 37–40. http://dx.doi.org/10.1097/pai.0b013e31822c132e.
Full textNowacki, P. "PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases." Nucleic Acids Research 26, no. 1 (1998): 220–25. http://dx.doi.org/10.1093/nar/26.1.220.
Full textSusanti, Susanti, Wakkas Fadhil, Shamayal Murtaza, et al. "Positive association of PIK3CA mutation with KRAS mutation but not BRAF mutation in colorectal cancer suggests co-selection is gene specific but not pathway specific." Journal of Clinical Pathology 72, no. 3 (2018): 263–64. http://dx.doi.org/10.1136/jclinpath-2018-205483.
Full textGupta, Archana A., Pooja Jaisinghani, Narayanasamy Priyadharshini, Chandini Rajkumar, and Shivaranjhany Sivakumar. "Need for mutation-specific treatment strategy in cancer." Journal of Oral Disease Marker 2, no. 1 (2018): 29. http://dx.doi.org/10.15713/ins.jodm.16.
Full textChan, AdenKa-Yin, RikiRui-Qi Zhang, Abudumijiti Aibaidula, et al. "BRAF mutation marks out specific subgroups of glioma." Glioma 1, no. 5 (2018): 168. http://dx.doi.org/10.4103/glioma.glioma_33_18.
Full textMassey, Ruth C., and Angus Buckling. "Environmental regulation of mutation rates at specific sites." Trends in Microbiology 10, no. 12 (2002): 580–84. http://dx.doi.org/10.1016/s0966-842x(02)02475-7.
Full textTomaselli, Pedro J., Alejandro Horga, Alexander M. Rossor, et al. "IGHMBP2 mutation associated with organ-specific autonomic dysfunction." Neuromuscular Disorders 28, no. 12 (2018): 1012–15. http://dx.doi.org/10.1016/j.nmd.2018.08.010.
Full textMelief, Cornelis J. M. "Mutation-Specific T Cells for Immunotherapy of Gliomas." New England Journal of Medicine 372, no. 20 (2015): 1956–58. http://dx.doi.org/10.1056/nejmcibr1501818.
Full textGreenberg, Eyal, Gideon Rechavi, Ninette Amariglio, et al. "Mutagen-Specific Mutation Signature Determines Global microRNA Binding." PLoS ONE 6, no. 11 (2011): e27400. http://dx.doi.org/10.1371/journal.pone.0027400.
Full textCotton, Richard G. H. "MITOMASTER: A model for Locus-Specific Mutation Databases." Human Mutation 30, no. 1 (2009): vii. http://dx.doi.org/10.1002/humu.20963.
Full textCruts, Marc, Jessie Theuns, and Christine Van Broeckhoven. "Locus‐specific mutation databases for neurodegenerative brain diseases." Human Mutation 33, no. 9 (2012): 1340–44. http://dx.doi.org/10.1002/humu.22117.
Full textMalling, H. V. "Genetic heterogeneity in mammalian specific-locus mutation systems." Environmental and Molecular Mutagenesis 26, no. 3 (1995): 187–88. http://dx.doi.org/10.1002/em.2850260302.
Full textGonin-Laurent, Nathalie, Anne Gibaud, Mathilde Huygue, et al. "Specific TP53 mutation pattern in radiation-induced sarcomas." Carcinogenesis 27, no. 6 (2006): 1266–72. http://dx.doi.org/10.1093/carcin/bgi356.
Full textGrandchamp, B., C. Picat, V. Mignotte, et al. "Tissue-specific splicing mutation in acute intermittent porphyria." Proceedings of the National Academy of Sciences 86, no. 2 (1989): 661–64. http://dx.doi.org/10.1073/pnas.86.2.661.
Full textClancy, Colleen E., and Xander H. T. Wehrens. "Mutation-specific effects of lidocaine in Brugada syndrome." International Journal of Cardiology 121, no. 3 (2007): 249–52. http://dx.doi.org/10.1016/j.ijcard.2007.05.060.
Full textJabbar, Kausar J., Rajalakshmi Luthra, Keyur P. Patel, et al. "Comparison of Next-generation Sequencing Mutation Profiling With BRAF and IDH1 Mutation-specific Immunohistochemistry." American Journal of Surgical Pathology 39, no. 4 (2015): 454–61. http://dx.doi.org/10.1097/pas.0000000000000325.
Full textJo, Yun Sol, Min Sung Kim, Nam Jin Yoo, and Sug Hyung Lee. "Absence of PRKD1 Mutation, a Salivary Tumor-Specific Mutation, in Solid Tumors and Leukemias." Pathology & Oncology Research 22, no. 1 (2015): 231–32. http://dx.doi.org/10.1007/s12253-015-0001-1.
Full textCapper, David, Matthias Preusser, Antje Habel, et al. "Assessment of BRAF V600E mutation status by immunohistochemistry with a mutation-specific monoclonal antibody." Acta Neuropathologica 122, no. 1 (2011): 11–19. http://dx.doi.org/10.1007/s00401-011-0841-z.
Full textRizzolo, Piera, Valentina Silvestri, Virginia Valentini, et al. "Gene-specific methylation profiles in BRCA-mutation positive and BRCA-mutation negative male breast cancers." Oncotarget 9, no. 28 (2018): 19783–92. http://dx.doi.org/10.18632/oncotarget.24856.
Full textUguen, A., M. Talagas, M. Braekeleer, and P. Marcorelles. "A Place for BRAFV600E Mutation-specific Immunohistochemistry Alongside Cell-free DNA Mutation Detection in Melanoma." Acta Dermato Venereologica 96, no. 3 (2016): 426–27. http://dx.doi.org/10.2340/00015555-2286.
Full textChear, Chai Teng, Revathy Nallusamy, Scott W. Canna, et al. "A novel de novo NLRC4 mutation reinforces the likely pathogenicity of specific LRR domain mutation." Clinical Immunology 211 (February 2020): 108328. http://dx.doi.org/10.1016/j.clim.2019.108328.
Full textPinto, Nádia, Leonor Gusmão, and António Amorim. "Mutation and mutation rates at Y chromosome specific Short Tandem Repeat Polymorphisms (STRs): A reappraisal." Forensic Science International: Genetics 9 (March 2014): 20–24. http://dx.doi.org/10.1016/j.fsigen.2013.10.008.
Full textBaaj, Yasser, Corinne Magdelaine, Virginie Ubertelli, et al. "A highly specific microarray method for point mutation detection." BioTechniques 44, no. 1 (2008): 119–26. http://dx.doi.org/10.2144/000112630.
Full textMatsubara, Yoichi. "Mutation detection by sequencing and TaqMan-allele specific amplification." SEIBUTSU BUTSURI KAGAKU 45, no. 1 (2001): 9–10. http://dx.doi.org/10.2198/sbk.45.9.
Full textChan, Nelson C. N., Chi-Keung Cheng, Kelvin C. F. Chan, et al. "Distinctive regional-specific PROS1 mutation spectrum in Southern China." Journal of Thrombosis and Thrombolysis 46, no. 1 (2018): 120–24. http://dx.doi.org/10.1007/s11239-018-1660-z.
Full textBaer, Constance Regina, Niroshan Nadarajah, Yasunobu Nagata, et al. "Myelodysplastic Syndrome Patients Show Mutation-Specific DNA Methylation Patterns." Blood 126, no. 23 (2015): 1646. http://dx.doi.org/10.1182/blood.v126.23.1646.1646.
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