Journal articles on the topic 'Mutation database'
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Gottlieb, Bruce, Lenore K. Beitel, and Mark A. Trifiro. "Variable expressivity and mutation databases: The androgen receptor gene mutations database." Human Mutation 17, no. 5 (2001): 382–88. http://dx.doi.org/10.1002/humu.1113.
Full textLee, Joon-Hyop, Jiyoung Ahn, Won Seo Park, Eun Kyung Choe, Eunyoung Kim, Rumi Shin, Seung Chul Heo, et al. "Colorectal Cancer Prognosis is Not Associated with BRAF and KRAS Mutations-A STROBE Compliant Study." Journal of Clinical Medicine 8, no. 1 (January 17, 2019): 111. http://dx.doi.org/10.3390/jcm8010111.
Full textStenson, P. D., E. Ball, K. Howells, A. Phillips, M. Mort, and D. N. Cooper. "Human Gene Mutation Database: towards a comprehensive central mutation database." Journal of Medical Genetics 45, no. 2 (September 24, 2007): 124–26. http://dx.doi.org/10.1136/jmg.2007.055210.
Full textPing, Jie, Olufunmilola Oyebamiji, Hui Yu, Scott Ness, Jeremy Chien, Fei Ye, Huining Kang, et al. "MutEx: a multifaceted gateway for exploring integrative pan-cancer genomic data." Briefings in Bioinformatics 21, no. 4 (October 7, 2019): 1479–86. http://dx.doi.org/10.1093/bib/bbz084.
Full textNebel, Istvan T., Barbara Trültsch, and Ralf Paschke. "TSH Receptor Mutation Database." Journal of Clinical Endocrinology & Metabolism 84, no. 6 (June 1999): 2263. http://dx.doi.org/10.1210/jcem.84.6.5809-9.
Full textCooper, D. N., and Michael Krawczak. "Human Gene Mutation Database." Human Genetics 98, no. 5 (September 26, 1996): 629. http://dx.doi.org/10.1007/s004390050272.
Full textNiesler, Beate, Christine Fischer, and Gudrun A. Rappold. "The humanSHOX mutation database." Human Mutation 20, no. 5 (October 25, 2002): 338–41. http://dx.doi.org/10.1002/humu.10125.
Full textBeysen, Diane, Jo Vandesompele, Ludwine Messiaen, Anne De Paepe, and Elfride De Baere. "The humanFOXL2 mutation database." Human Mutation 24, no. 3 (2004): 189–93. http://dx.doi.org/10.1002/humu.20079.
Full textWertheim-Tysarowska, Katarzyna, Agnieszka Sobczyńska-Tomaszewska, Cezary Kowalewski, Michał Skroński, Grzegorz Święćkowski, Anna Kutkowska-Kaźmierczak, Katarzyna Woźniak, and Jerzy Bal. "The COL7A1 mutation database." Human Mutation 33, no. 2 (December 20, 2011): 327–31. http://dx.doi.org/10.1002/humu.21651.
Full textShemansky, Jennifer M., Lea Patrice McDaniel, Christopher Klimas, Stephen D. Dertinger, Vasily N. Dobrovolsky, Takafumi Kimoto, Katsuyoshi Horibata, James E. Polli, and Robert H. Heflich. "Pig‐agene mutation database." Environmental and Molecular Mutagenesis 60, no. 8 (June 7, 2019): 759–62. http://dx.doi.org/10.1002/em.22298.
Full textNowacki, P. "PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases." Nucleic Acids Research 26, no. 1 (January 1, 1998): 220–25. http://dx.doi.org/10.1093/nar/26.1.220.
Full textBhattacharya, Sanjoy K. "Article Commentary: Prospects for Proteomics Directed Genomic and Genetic Analyses in Disease Discoveries." Proteomics Insights 2 (January 2009): PRI.S3023. http://dx.doi.org/10.4137/pri.s3023.
Full textMinoshima, S. "Keio Mutation Database (KMDB) for human disease gene mutations." Nucleic Acids Research 28, no. 1 (January 1, 2000): 364–68. http://dx.doi.org/10.1093/nar/28.1.364.
Full textRatbi, Ilham, Alae-eddine Gati, and Abdelaziz Sefiani. "The moroccan human mutation database." Indian Journal of Human Genetics 14, no. 3 (2008): 106. http://dx.doi.org/10.4103/0971-6866.45004.
Full textvan Durme, J. J. J. "NRMD: Nuclear Receptor Mutation Database." Nucleic Acids Research 31, no. 1 (January 1, 2003): 331–33. http://dx.doi.org/10.1093/nar/gkg122.
Full textCotton, R. G. H., and O. Horaitis. "The HUGO Mutation Database Initiative." Pharmacogenomics Journal 2, no. 1 (January 2002): 16–19. http://dx.doi.org/10.1038/sj.tpj.6500070.
Full textSandgren, Andreas, Michael Strong, Preetika Muthukrishnan, Brian K. Weiner, George M. Church, and Megan B. Murray. "Tuberculosis Drug Resistance Mutation Database." PLoS Medicine 6, no. 2 (February 10, 2009): e1000002. http://dx.doi.org/10.1371/journal.pmed.1000002.
Full textCotton, R. G. H. "The HUGO Mutation Database Initiative." Science 279, no. 5347 (January 2, 1998): 10c—15. http://dx.doi.org/10.1126/science.279.5347.10c.
Full textLewis, P. D. "The Mammalian Gene Mutation Database." Mutagenesis 15, no. 5 (September 1, 2000): 411–14. http://dx.doi.org/10.1093/mutage/15.5.411.
Full textKrawczak, M. "The human gene mutation database." Trends in Genetics 13, no. 3 (March 1997): 121–22. http://dx.doi.org/10.1016/s0168-9525(97)01068-8.
Full textTRÜLZSCH, BARBARA, TIBOR NEBEL, and RALF PASCHKE. "The Thyrotropin Receptor Mutation Database." Thyroid 9, no. 6 (June 1999): 521–22. http://dx.doi.org/10.1089/thy.1999.9.521.
Full textBrown, A. "The Human PAX6 Mutation Database." Nucleic Acids Research 26, no. 1 (January 1, 1998): 259–64. http://dx.doi.org/10.1093/nar/26.1.259.
Full textCooper, D. "The human gene mutation database." Nucleic Acids Research 26, no. 1 (January 1, 1998): 285–87. http://dx.doi.org/10.1093/nar/26.1.285.
Full textAstolfi, Annalisa, Margherita Nannini, Valentina Indio, Angela Schipani, Alessandro Rizzo, Anna Myriam Perrone, Pierandrea De Iaco, et al. "Genomic Database Analysis of Uterine Leiomyosarcoma Mutational Profile." Cancers 12, no. 8 (July 31, 2020): 2126. http://dx.doi.org/10.3390/cancers12082126.
Full textErgoren, Mahmut Cerkez, Rameez Hassan Pirzada, Mustafa Arici, and Nedime Serakinci. "Near East University Genetic Mutation Database (NEU-GD): The first mutation database of Northern Cyprus." Gene 571, no. 1 (October 2015): 145–48. http://dx.doi.org/10.1016/j.gene.2015.07.035.
Full textLane, D. A., T. Bayston, R. J. Olds, A. C. Fitches, D. N. Cooper, D. S. Millar, K. Jochmans, et al. "Antithrombin Mutation Database: 2nd (1997) Update." Thrombosis and Haemostasis 77, no. 01 (1997): 197–211. http://dx.doi.org/10.1055/s-0038-1655930.
Full textLane, D. A., R. J. Olds, M. Boisclair, V. Chowdhury, S. L. Thein, D. N. Cooper, M. Blajchman, D. Perry, J. Emmerich, and M. Aiach. "Antithrombin III Mutation Database: First Update." Thrombosis and Haemostasis 70, no. 02 (1993): 361–69. http://dx.doi.org/10.1055/s-0038-1649581.
Full textBeroud, C. "p53 gene mutation: software and database." Nucleic Acids Research 24, no. 1 (January 1, 1996): 147–50. http://dx.doi.org/10.1093/nar/24.1.147.
Full textBeroud, C. "p53 gene mutation: software and database." Nucleic Acids Research 26, no. 1 (January 1, 1998): 200–204. http://dx.doi.org/10.1093/nar/26.1.200.
Full textDalgleish, R. "The Human Collagen Mutation Database 1998." Nucleic Acids Research 26, no. 1 (January 1, 1998): 253–55. http://dx.doi.org/10.1093/nar/26.1.253.
Full textPan, C., J. Kim, L. Chen, Q. Wang, and C. Lee. "The HIV positive selection mutation database." Nucleic Acids Research 35, Database (January 3, 2007): D371—D375. http://dx.doi.org/10.1093/nar/gkl855.
Full textUitto, Jouni. "Epidermolysis Bullosa: The Expanding Mutation Database." Journal of Investigative Dermatology 123, no. 4 (October 2004): xii—xiii. http://dx.doi.org/10.1111/j.0022-202x.2004.23333.x.
Full textStephenson, Alexandra, Lorraine Lau, Markus Eszlinger, and Ralf Paschke. "The Thyrotropin Receptor Mutation Database Update." Thyroid 30, no. 6 (June 1, 2020): 931–35. http://dx.doi.org/10.1089/thy.2019.0807.
Full textHeinritz, Wolfram, Lin Shou, Andre Moschik, and Ursula G. Froster. "The human TBX5 gene mutation database." Human Mutation 26, no. 4 (2005): 397. http://dx.doi.org/10.1002/humu.9375.
Full textHernandez, Diana, Sarah Addou, David Lee, Christine Orengo, Elizabeth A. Shephard, and Ian R. Phillips. "Trimethylaminuria and a humanFMO3 mutation database." Human Mutation 22, no. 3 (August 18, 2003): 209–13. http://dx.doi.org/10.1002/humu.10252.
Full textBéroud, Christophe, Dalil Hamroun, Gwenaëlle Collod-Béroud, Catherine Boileau, Thierry Soussi, and Mireille Claustres. "UMD (Universal Mutation Database): 2005 update." Human Mutation 26, no. 3 (September 2005): 184–91. http://dx.doi.org/10.1002/humu.20210.
Full textRuangrit, Uttapong, Metawee Srikummool, Anunchai Assawamakin, Chumpol Ngamphiw, Suparat Chuechote, Vilasinee Thaiprasarnsup, Gallissara Agavatpanitch, et al. "Thailand mutation and variation database (ThaiMUT)." Human Mutation 29, no. 8 (August 2008): E68—E75. http://dx.doi.org/10.1002/humu.20787.
Full textAuerbach, Arleen D., and Richard G. H. Cotton. "Mutation Database Meeting, 27th March 1998." Human Mutation 12, no. 6 (1998): 367–69. http://dx.doi.org/10.1002/(sici)1098-1004(1998)12:6<367::aid-humu1>3.0.co;2-r.
Full textZhou, Chixiang, and Phyllis Frankl. "JDAMA: Java database application mutation analyser." Software Testing, Verification and Reliability 21, no. 3 (April 28, 2011): 241–63. http://dx.doi.org/10.1002/stvr.462.
Full textWei, Ming-Hui, Patrick W. Blake, Julia Shevchenko, and Jorge R. Toro. "The folliculin mutation database: An online database of mutations associated with Birt-Hogg-Dubé syndrome." Human Mutation 30, no. 9 (September 2009): E880—E890. http://dx.doi.org/10.1002/humu.21075.
Full textPecho-Silva, Samuel, and Ana C. Navarro-Solsol. "The c.3274T> C mutation in the CFTR gene results in bronchiectasis and loss of lung function in a 44-year-old Peruvian woman: A very rare condition." Revista Peruana de Investigación en Salud 5, no. 2 (April 9, 2021): 132–35. http://dx.doi.org/10.35839/repis.5.2.1008.
Full textPaalman, Mark H. "Ourania Horaitis: LinkingHuman Mutation and the HUGO-Mutation Database Initiative." Human Mutation 17, no. 1 (2000): 1–2. http://dx.doi.org/10.1002/1098-1004(2001)17:1<1::aid-humu1>3.0.co;2-#.
Full textZHAO, XIN, ZUOFENG LI, and XIAOYAN ZHANG. "G6PD-MutDB: A MUTATION AND PHENOTYPE DATABASE OF GLUCOSE-6-PHOSPHATE (G6PD) DEFICIENCY." Journal of Bioinformatics and Computational Biology 08, supp01 (December 2010): 101–9. http://dx.doi.org/10.1142/s021972001000518x.
Full textWang, Yan, Fei Ran, Jin Lin, Jing Zhang, and Dan Ma. "Genetic and Clinical Characteristics of Patients with Philadelphia-Negative Myeloproliferative Neoplasm Carrying Concurrent Mutations in JAK2V617F, CALR, and MPL." Technology in Cancer Research & Treatment 22 (January 2023): 153303382311540. http://dx.doi.org/10.1177/15330338231154092.
Full textStenson, Peter D., Edward V. Ball, Katy Howells, Andrew D. Phillips, Matthew Mort, and David N. Cooper. "The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalised genomics." Human Genomics 4, no. 2 (2009): 69. http://dx.doi.org/10.1186/1479-7364-4-2-69.
Full textPeltomäki, Päivi, and Hans Vasen. "Mutations Associated with HNPCC Predisposition — Update of ICG-HNPCC/INSiGHT Mutation Database." Disease Markers 20, no. 4-5 (2004): 269–76. http://dx.doi.org/10.1155/2004/305058.
Full textPatrinos, George P., Sjozef van Baal, Michael B. Petersen, and Manoussos N. Papadakis. "Hellenic National Mutation Database: a prototype database for mutations leading to inherited disorders in the Hellenic population." Human Mutation 25, no. 4 (2005): 327–33. http://dx.doi.org/10.1002/humu.20157.
Full textBarnes, Michael R. "SNP and Mutation Data on the Web – Hidden Treasures for Uncovering." Comparative and Functional Genomics 3, no. 1 (2002): 67–74. http://dx.doi.org/10.1002/cfg.131.
Full textHart, Lowell L., Kai Treuner, Li Ma, Jenna Wong, Catherine A. Schnabel, and James Andrew Reeves. "Integration of molecular cancer classification and next-generation sequencing to identify metastatic patients eligible for PARP inhibitors." Journal of Clinical Oncology 39, no. 15_suppl (May 20, 2021): e15080-e15080. http://dx.doi.org/10.1200/jco.2021.39.15_suppl.e15080.
Full textStenson, Peter D., Matthew Mort, Edward V. Ball, Katy Howells, Andrew D. Phillips, Nick ST Thomas, and David N. Cooper. "The Human Gene Mutation Database: 2008 update." Genome Medicine 1, no. 1 (2009): 13. http://dx.doi.org/10.1186/gm13.
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