标题: The Journal of Molecular Diagnostics: Mar-2015 [打印本页] 作者: wwwkkk83 时间: 2015-2-13 16:22 标题: The Journal of Molecular Diagnostics: Mar-2015 Special Article
Reporting Incidental Findings in Genomic Scale Clinical Sequencing—A Clinical Laboratory Perspective
Madhuri Hegde, Sherri Bale, Pinar Bayrak-Toydemir, Jane Gibson, Linda Jo Bone Jeng, Loren Joseph, Jordan Laser, Ira M. Lubin, Christine E. Miller, Lainie F. Ross, Paul G. Rothberg, Alice K. Tanner, Patrik Vitazka, Rong Mao
Technical Advance
A Novel Technology for Multiplex Gene Expression Analysis Directly from Whole Blood Samples Stabilized at Ambient Temperature Using an RNA-Stabilizing Buffer
Chang Hee Kim, Majid Abedi, Yenbou Liu, Sree Panuganti, Francisco Flores, Kevin R. Shah, Hannah Catterall, Krishna S. Morampudi, Robert Terbrueggen
Regular Articles
Efficient and Highly Sensitive Screen for Myotonic Dystrophy Type 1 Using a One-Step Triplet-Primed PCR and Melting Curve Assay
Mulias Lian, Indhu-Shree Rajan-Babu, Kunal Singh, Caroline G. Lee, Hai-Yang Law, Samuel S. Chong
miR-210 Is a Prognostic Marker in Clear Cell Renal Cell Carcinoma
Sara Samaan, Heba W.Z. Khella, Andrew Girgis, Andreas Scorilas, Evi Lianidou, Manal Gabril, Sergey N. Krylov, Michael Jewett, Georg A. Bjarnason, Hala El-said, George M. Yousef
High-Throughput Sequencing Using the Ion Torrent Personal Genome Machine for Clinical Evaluation of Somatic Hypermutation Status in Chronic Lymphocytic Leukemia
Rebecca McClure, Ming Mai, Scott McClure
NADf Chip, a Two-Color Microarray for Simultaneous Screening of Multigene Mutations Associated with Hearing Impairment in North African Mediterranean Countries
Imen Chakchouk, Mariem Ben Said, Fida Jbeli, Riadh Benmarzoug, Salma Loukil, Ibtihel Smeti, Amine Chakroun, Abdullah Ahmed Gibriel, Abdelmonem Ghorbel, Hassen Hadjkacem, Saber Masmoudi
Next-Generation Sequencing of the BRCA1 and BRCA2 Genes for the Genetic Diagnostics of Hereditary Breast and/or Ovarian Cancer
Daniel Trujillano, Maximilian E.R. Weiss, Juliane Schneider, Julia Köster, Efstathios B. Papachristos, Viatcheslav Saviouk, Tetyana Zakharkina, Nahid Nahavandi, Lejla Kovacevic, Arndt Rolfs
Relationship between CFTR and CTRC Variants and the Clinical Phenotype in Late-Onset Cystic Fibrosis Disease with Chronic Pancreatitis
Anna C. Tomaiuolo, Valentina M. Sofia, Cecilia Surace, Fabio Majo, Silvia Genovese, Stefano Petrocchi, Simona Grotta, Federico Alghisi, Vincenzina Lucidi, Adriano Angioni
Two Novel Methods for Rapid Detection and Quantification of DNMT3A R882 Mutations in Acute Myeloid Leukemia
Melissa Mancini, Syed Khizer Hasan, Tiziana Ottone, Serena Lavorgna, Claudia Ciardi, Daniela F. Angelini, Francesca Agostini, Adriano Venditti, Francesco Lo-Coco
A DNA Real-Time Quantitative PCR Method Suitable for Routine Monitoring of Low Levels of Minimal Residual Disease in Chronic Myeloid Leukemia
Paul A. Bartley, Susan Latham, Bradley Budgen, David M. Ross, Elizabeth Hughes, Susan Branford, Deborah White, Timothy P. Hughes, Alexander A. Morley
Target-Enriched Next-Generation Sequencing Reveals Differences between Primary and Secondary Ovarian Tumors in Formalin-Fixed, Paraffin-Embedded Tissue
Stijn Crobach, Dina Ruano, Ronald van Eijk, Gert Jan Fleuren, Ivonne Minderhout, Ronelle Snowdowne, Carli Tops, Tom van Wezel, Hans Morreau
Report of New Haplotype for ABCC2 Gene
Victoria M. Pratt, Brittany N. Beyer, Daniel L. Koller, Todd C. Skaar, David A. Flockhart, Kenneth D. Levy, Gail H. Vance