Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Oleg Iartchouk"'
Autor:
Natalia Kurepina, Sam Bozeman, Maha R. Farhat, Alexander Sloutsky, James E. Galagan, Elizabeth M. Streicher, Tommie C. Victor, Razvan Sultana, Megan Murray, Karen R. Jacobson, Barry N. Kreiswirth, Hanna Nebenzahl-Guimaraes, Robin M. Warren, Christian Stolte, Dick van Soolingen, Leen Rigouts, James E. Posey, Peter Sisk, Devinder Kaur, Oleg Iartchouk
Publikováno v:
American Journal of Respiratory and Critical Care Medicine, 194, 5, pp. 621-30
Europe PubMed Central
American Journal of Respiratory and Critical Care Medicine, 194, 621-30
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
American journal of respiratory and critical care medicine
Europe PubMed Central
American Journal of Respiratory and Critical Care Medicine, 194, 621-30
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
American journal of respiratory and critical care medicine
Item does not contain fulltext RATIONALE: The development of molecular diagnostics that detect both the presence of Mycobacterium tuberculosis in clinical samples and drug resistance-conferring mutations promises to revolutionize patient care and int
Autor:
Kimberly A Chin, Donald J. Zack, Nicholas Katsanis, Robyn Reynolds, Perciliz L. Tan, Peter A. Campochiaro, Kate T. Montgomery, Oleg Iartchouk, Stephan Ripke, Yi Yu, Betsy Campochiaro, Soumya Vemuri, Albert K. Tai, Soumya Raychaudhuri, Sivakumar Gowrisankar, Johanna M. Seddon, Mark J. Daly
Publikováno v:
Nature Genetics. 43:1232-1236
Two common variants in the gene encoding complement factor H (CFH), the Y402H substitution (rs1061170, c.1204C>T)(1-4) and the intronic rs1410996 SNP(5,6), explain 17% of age-related macular degeneration (AMD) liability. However, proof for the involv
Autor:
Yosuf Yassin, A. Thomas Look, Michael A. Caligiuri, Jordan M. Winter, Oleg Iartchouk, Mignon L. Loh, Ralph H. Hruban, Susan P. Whitman, Mohamed Bentires-Alj, Rupinder Grewal, Scott E. Kern, Kenneth D. Swanson, D. Gary Gilliland, Benjamin G. Neel, Kate Montgomery, Marcelo Reis, Charles J. Yeo, Matthew Meyerson, Raju Kucherlapati, Heidi Greulich
Publikováno v:
Genes, Chromosomes and Cancer. 47:253-259
Germ line gain-of-function mutations in several members of the RAS/ERK pathway, including PTPN11, KRAS, and RAF1, cause the autosomal dominant genetic disorder Noonan Syndrome (NS). NS patients are at increased risk of leukemia/myeloproliferative dis
Autor:
Megan Manion, Jonathan Liu, Heidi L. Rehm, Lisa M. Farwell, Jordan P. Lerner-Ellis, Birgit Funke, Oleg Iartchouk, Emily White, Kevin LeVan, Sivakumar Gowrisankar, Stephanie Cox
Publikováno v:
The Journal of molecular diagnostics : JMD. 12(6)
Medical sequencing for diseases with locus and allelic heterogeneities has been limited by the high cost and low throughput of traditional sequencing technologies. "Second-generation" sequencing (SGS) technologies allow the parallel processing of a l
Autor:
Heidi L. Rehm, Oleg Iartchouk, Christine E. Seidman, Jonathan G. Seidman, Daniel S. Herman, Raju Kucherlapati, G Kees Hovingh
Publikováno v:
Nature methods
Nature methods, 6(7), 507-510. Nature Publishing Group
Nature methods, 6(7), 507-510. Nature Publishing Group
To exploit contemporary sequencing technologies for targeted genetic analyses, we developed a hybridization enrichment strategy for DNA capture that uses PCR products as subgenomic traps. We applied this strategy to 115 kilobases of the human genome