The Journal of molecular diagnostics

• 

  Año 2011, Vol. 13, Número 5

  • Uses and Abuses of JAK2 and MPL Mutation Tests in Myeloproliferative Neoplasms: A Paper from the 2010 William Beaumont Hospital Symposium on Molecular Pathology

    Ayalew Tefferi, Pierre Noel, Curtis A. Hanson

    • Resumen

    págs. 461-466

    

  • Comparison of Allelic Discrimination by dHPLC, HRM, and TaqMan in the Detection of BRAF Mutation V600E

    Pablo Carbonell Bejerano, María C. Turpín, Daniel Torres Moreno, Irene Teresa Molina Martínez, José García Solano, Miguel Pérez Guillermo, Pablo Conesa Zamora

    • Resumen

    págs. 467-473

    

  • A Locked Nucleic Acid Clamp-Mediated PCR Assay for Detection of a p53 Codon 249 Hotspot Mutation in Urine

    Selena Y. Lin, Veerpal Dhillon, Surbhi Jain, Ting Tsung Chang, Chi Tan Hu, Yih Jyh Lin, Shun Hua Chen, Kung Chao Chang, Wei Song, Lixin Yu, Timothy M. Block, Ying Hsiu Su

    • Resumen

    págs. 474-484

    

  • A Multiplex SNaPshot Assay as a Rapid Method for Detecting KRAS and BRAF Mutations in Advanced Colorectal Cancers

    Sandrine Magnin, Erika Viel, Alice Baraquin, Severine Valmary Degano, Bernadette Kantelip, Jean Luc Pretet, Christiane Mougin, Marthe Bigand, Benoît Girardo, Christophe Borg, Christophe Ferrand

    • Resumen

    págs. 485-492

    

  • Performance and Clinical Evaluation of the 92-Gene Real-Time PCR Assay for Tumor Classification

    Mark G. Erlander, Xiao Jun Ma, Nicole C. Kesty, Lei Bao, Ranelle Salunga, Catherine A. Schnabel

    • Resumen

    págs. 493-503

    

  • Multiplex Mutation Screening by Mass Spectrometry: Evaluation of 820 Cases from a Personalized Cancer Medicine Registry

    Carol Beadling, Michael C. Heinrich, Andrea Warrick, Erin M. Forbes, Dylan Nelson, Emily Justusson, Judith Levine, Tanaya L. Neff, Janice Patterson, Ajia Presnell, Arin McKinley, Laura J. Winter, Christie Dewey, Amy Harlow, Oscar Barney, Brian J. Druker, Kathryn G. Schuff, Christopher L. Corless

    • Resumen

    págs. 504-513

    

  • Rapid Assessment of the Heterogeneous Methylation Status of CEBPA in Patients with Acute Myeloid Leukemia by Using High-Resolution Melting Profile

    Tsung Chin Lin, Sin Sien Jiang, Wen Chien Chou, Hsin An Hou, Yu Min Lin, Chia Ling Chang, Cherng An Hsu, Hwei Fang Tien, Liang In Lin

    • Resumen

    págs. 514-519

    

  • Orphan Missense Mutations in the Cystic Fibrosis Transmembrane Conductance Regulator: A Three-Step Biological Approach to Establishing a Correlation Between Genotype and Phenotype

    Fleur Fresquet, Romain Clement, Caroline Norez, Adélaïde Sterlin, Patricia Melin, Frédéric Becq, Alain Kitzis Jacques, Vincent Thoreau, Frédéric Bilan

    • Resumen

    págs. 520-527

    

  • FMR1 Intron 1 Methylation Predicts FMRP Expression in Blood of Female Carriers of Expanded FMR1 Alleles

    David E. Godler, Howard R. Slater, Quang M. Bui, Michele Ono, Freya Gehling, David Francis, David J. Amor, John L. Hopper, Randi J. Hagerman, Danuta Z. Loesch

    • Resumen

    págs. 528-536

    

  • Three New Loci for Determining X Chromosome Inactivation Patterns

    Birgitte Bertelsen, Zeynep Tümer, Kirstine Ravn

    • Resumen

    págs. 537-540

    

  • Genomic Changes in Gliomas Detected Using Single Nucleotide Polymorphism Array in Formalin-Fixed, Paraffin-Embedded Tissue: Superior Results Compared with Microsatellite Analysis

    Shuko Harada, Lindsay B. Henderson, James R. Eshleman, Christopher D. Gocke, Peter Burger, Constance A. Griffin, Denise A. S. Batista

    • Resumen

    págs. 541-548

    

  • Development and Clinical Implementation of a Combination Deletion PCR and Multiplex Ligation-Dependent Probe Amplification Assay for Detecting Deletions Involving the Human ?-Globin Gene Cluster

    Benjamin R. Kipp, Samantha E. Roellinger, Patrick A. Lundquist, W. Edward Highsmith, D. Brian Dawson

    • Resumen

    págs. 549-557

    

  • Sensitive Detection and Quantification of the JAK2V617F Allele by Real-Time PCR: Blocking Wild-Type Amplification by Using a Peptide Nucleic Acid Oligonucleotide

    Cornelis J. J. Huijsmans, Jeroen Poodt, Paul H. M. Savelkoul, Mirjam H. A. Hermans

    • Resumen

    págs. 558-564

    

  • Proof of Concept Study to Assess Fetal Gene Expression in Amniotic Fluid by NanoArray PCR

    Lauren J. Massingham, Kirby L. Johnson, Diana W. Bianchi, Shermin Pei, Inga Peter, Janet M. Cowan, Umadevi Tantravahi, Tom B. Morrison

    • Resumen

    págs. 565-570