The Journal of molecular diagnostics

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  Año 2010, Vol. 12, Número 3

  • Towards Routine Screening of Rare Genetic Diseases: The Example of Chronic Granulomatous Disease

    Marie José Stasia

    • Resumen

    págs. 269-271

    

  • SeqSharp: A General Approach for Improving Cycle-Sequencing That Facilitates a Robust One-Step Combined Amplification and Sequencing Method

    Dhruba J. SenGupta, Brad T. Cookson

    • Resumen

    págs. 272-277

    

  • Detection of Exon 12 Mutations in the JAK2 Gene: Enhanced Analytical Sensitivity Using Clamped PCR and Nucleotide Sequencing

    Todd S. Laughlin, Alison R. Moliterno, Brady L. Stein, Paul G. Rothberg

    • Resumen

    págs. 278-282

    

  • Validation and Comparison of Pharmacogenetics-Based Warfarin Dosing Algorithms for Application of Pharmacogenetic Testing

    Roper Nitin, Barry Storer, Robert Bona, Min Fang

    • Resumen

    págs. 283-291

    

  • A Commercial Real-Time PCR Kit Provides Greater Sensitivity than Direct Sequencing to Detect KRAS Mutations: A Morphology-Based Approach in Colorectal Carcinoma

    Bárbara Angulo

    • Resumen

    págs. 292-299

    

  • Simultaneous Genotyping of GSTT1 and GSTM1 Null Polymorphisms by Melting Curve Analysis in Presence of SYBR Green I

    Fátima Marín

    • Resumen

    págs. 300-304

    

  • Rapid and Reliable Detection of Glucose-6-Phosphate Dehydrogenase (G6PD) Gene Mutations in Han Chinese Using High-Resolution Melting Analysis

    Jing Bin Yan

    • Resumen

    págs. 305-311

    

  • Serum DNA Motifs Predict Disease and Clinical Status in Multiple Sclerosis

    Julia Beck

    • Resumen

    págs. 312-319

    

  • Combined Use of PCR-Based TCRG and TCRB Clonality Tests on Paraffin-Embedded Skin Tissue in the Differential Diagnosis of Mycosis Fungoides and Inflammatory Dermatoses

    Zhang Bing

    • Resumen

    págs. 320-327

    

  • High Expression of Lymphocyte-Activation Gene 3 (LAG3) in Chronic Lymphocytic Leukemia Cells Is Associated with Unmutated Immunoglobulin Variable Heavy Chain Region (IGHV) Gene and Reduced Treatment-Free Survival

    Jana Kotaskova

    • Resumen

    págs. 328-334

    

  • Bead Array-Based microRNA Expression Profiling of Peripheral Blood and the Impact of Different RNA Isolation Approaches

    Andrea Gaarz

    • Resumen

    págs. 335-344

    

  • Development of a Diagnostic Microarray Assay to Assess the Risk of Recurrence of Prostate Cancer Based on PITX2 DNA Methylation

    Philipp Schatz

    • Resumen

    págs. 345-353

    

  • Rapid Diagnosis of a-Thalassemia by Melting Curve Analysis

    Thongperm Munkongdee

    • Resumen

    págs. 354-358

    

  • Surpassing Specificity Limits of Nucleic Acid Probes via Cooperativity

    Brent C. Satterfield, Matt Bartosiewicz, Jay A. A. West, Michael R. Caplan

    • Resumen

    págs. 359-367

    

  • Rapid Genetic Analysis of X-Linked Chronic Granulomatous Disease by High-Resolution Melting

    Harry R. Hill

    • Resumen

    págs. 368-376

    

  • A Novel COL7A1 Gene Mutation in an Iranian Individual Suffering Dystrophic Epidermolysis Bullosa

    Hamid Galehdari, Gholamreza Mohammadian, Somayeh Azmoon, Bahaoddin Salehi, Mohammad Pedram

    • Resumen

    págs. 377-379

    

  • A Synonymous Mutation in the CFTR Gene Causes Aberrant Splicing in an Italian Patient Affected by a Mild Form of Cystic Fibrosis

    Valeria Faa, Alessandra Coiana, Federica Incani, Lucy Constantino, Antonio Cao, Maria Cristina Rosatelli

    • Resumen

    págs. 380-383

    

  • Rare Sequence Variation in the Genome Flanking a Short Tandem Repeat Locus Can Lead to a Question of "Nonmaternity"

    Anne Deucher, Tsoyu Chiang, Iris Schrijver

    • Resumen

    págs. 384-389