The Journal of molecular diagnostics

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  Año 2012, Vol. 14, Número 6

  • Opportunities and Challenges Associated with Clinical Diagnostic Genome Sequencing:: A Report of the Association for Molecular Pathology

    Iris Schrijver, Nazneen Aziz, Daniel H. Frakas, Manohar R. Furtado, Andrea Ferreira Gonzalez, Tina Hambuch, Lisa Kalman, Jeffrey A. Kant, Roger D. Klein, Debra G. B. Leonard, Ira M. Lubin, Rong Mao, Narasimhan Nagan, Victoria M. Pratt, Mark E. Sobel, Karl V. Voelkerding, Jane S. Gibson

    • Resumen

    págs. 525-540

    

  • Certification in Molecular Pathology in the United States:: An Update from the Association for Molecular Pathology Training and Education Committee

    Alexander C. Mackinnon, Y. Lynn Wang, Amrik Sahota, Cecilia C. Yeung, Karen E. Weck

    • Resumen

    págs. 541-549

    

  • A GC-Wave Correction Algorithm that Improves the Analytical Performance of aCGH

    Angela Leo, Andrew Walker, Matthew S. Lebo, Brant C. Hendrickson, Thomas Scholl, Viatcheslav R. Akmaev

    • Resumen

    págs. 550-559

    

  • Reliable and Sensitive Detection of Fragile X (Expanded) Alleles in Clinical Prenatal DNA Samples with a Fast Turnaround Time

    Sara Seneca, Willy Lissens, Kristof Endels, Ben Caljon, Maryse Bonduelle, Kathleen Keymolen, Marjan de Rademaeker, Urielle Ullmann, Patrick Haentjens, Kim van Berkel, Sonia van Dooren

    • Resumen

    págs. 560-568

    

  • Development and Comparison of a Rapid Isothermal Nucleic Acid Amplification Test for Typing of Herpes Simplex Virus Types 1 and 2 on a Portable Fluorescence Detector

    Yanhong Tong, Kaitlin McCarthy, Huimin Kong, Bertrand Lemieux

    • Resumen

    págs. 569-576

    

  • Inhibition of SOX17 by MicroRNA 141 and Methylation Activates the WNT Signaling Pathway in Esophageal Cancer

    Yan Jia, Yunsheng Yang, Quimin Zhan, Malcolm V. Brock, Xiaofei Zheng, Yuanzi Yu, James G. Herman, Mingzhou Guo

    • Resumen

    págs. 577-585

    

  • Skin Biopsy Is a Practical Approach for the Clinical Diagnosis and Molecular Genetic Analysis of X-Linked Alport's Syndrome

    Fang Wang, Dan Zhao, Jie Ding, Hongwen Zhang, Yanqin Zhang, Lixia Yu, Huijie Xiao, Yong Yao, Xuhui Zhong, Suxia Wang

    • Resumen

    págs. 586-593

    

  • Rapid Screening of ASXL1, IDH1, IDH2, and c-CBL Mutations in de Novo Acute Myeloid Leukemia by High-Resolution Melting

    Mariam Ibáñez, Esperanza Such, José Cervera, Irene Luna, Inés Gómez Seguí, María López, Sandra Dolz, Eva Barragán, Óscar Fuster, Marta Llop, Rebeca Rodríguez Veiga, Amparo Avaria, Juan Silvestre Oltra Soler, M. Leonor Senent, Federico Moscardó García, Pau Montesinos, David Martínez Cuadrón, Guillermo Martín, Miguel A. Sanz

    • Resumen

    págs. 594-601

    

  • Development of a Next-Generation Sequencing Method for BRCA Mutation Screening:: A Comparison between a High-Throughput and a Benchtop Platform

    Maurice Chan, Shen Mo Ji, Zhen Xuan Yeo, Linda Gan, Eric Yap, Yoon Sim Yap, Raymond Ng, Puay Hoon Tan, Gay Hui Ho, Peter Ang, Ann Siew Gek Lee

    • Resumen

    págs. 602-612

    

  • DNA Methylation Index and Methylation Profile of Invasive Ductal Breast Tumors

    Diego Matias Marzese Parrilli, Dave S. B. Hoon, Kelly K. Chong, Francisco E. Gago, Javier I. Orozco, Olga M. Tello, Laura María Vargas Roig, María Roqué

    • Resumen

    págs. 613-622

    

  • Molecular Analysis of the Breast Cancer Genes BRCA1 and BRCA2 Using Amplicon-Based Massive Parallel Pyrosequencing

    Geneviève Michils, Silke Hollants, Luc Dehaspe, J. van Houdt, Yannick Bidet, Nancy Uhrhammer, Yves Jean Bignon, Joris R. Vermeesch, Harry Cuppens, Gert Matthijs

    • Resumen

    págs. 623-630

    

  • Do Pre-Analytical Parameters Explain KRAS Test Sensitivity Disparities?

    Emmanuel Labourier, Jeroen R. Dijkstra, J. Han J. M. van Krieken, Frank J. M. Opdam, Jerry B. Boonyaratanakornkit, E. Ralf Schönbrunner, Mona Shahbazian, Anders Edsjö, Gerald Hoefler, Andreas Jung, Athanassios Kotsinas, Vassilis G. Gorgoulis, Fernando López-Rios Moreno, Karin de Stricker, Etienne Rouleau, Bart Biesmans

    págs. 631-633