Laboratory Genetic Testing in Clinical Practice

• Identification and Characterization of DM1 Patients by a New Diagnostic Certified Assay: Neuromuscular and Cardiac Assessments, Rea Valaperta, Valeria Sansone, Fortunata Lombardi, Chiara Verdelli, Alessio Colombo, Massimiliano Valisi, Elisa Brigonzi, Elena Costa, and Giovanni Meola
  Volume 2013 (2013), Article ID 958510, 6 pages
• Ultradeep Pyrosequencing of Hepatitis C Virus Hypervariable Region 1 in Quasispecies Analysis, Kamila Caraballo Cortés, Osvaldo Zagordi, Tomasz Laskus, Rafał Płoski, Iwona Bukowska-Ośko, Agnieszka Pawełczyk, Hanna Berak, and Marek Radkowski
  Volume 2013 (2013), Article ID 626083, 10 pages
• Feasibility of a Microarray-Based Point-of-Care CYP2C19 Genotyping Test for Predicting Clopidogrel On-Treatment Platelet Reactivity, Hyojin Chae, Myungshin Kim, Yoon-Seok Koh, Byung-Hee Hwang, Min-Kyu Kang, Yonggoo Kim, Hae-il Park, and Kiyuk Chang
  Volume 2013 (2013), Article ID 154073, 5 pages
• FISH Detection of PML-RARA Fusion in ins(15;17) Acute Promyelocytic Leukaemia Depends on Probe Size, Lynda J. Campbell, Paul Oei, Ross Brookwell, Jake Shortt, Nicola Eaddy, Ashley Ng, Edward Chew, and Peter Browett
  Volume 2013 (2013), Article ID 164501, 4 pages
• Molecular Genetics and Genetic Testing in Myotonic Dystrophy Type 1, Dušanka Savić Pavićević, Jelena Miladinović, Miloš Brkušanin, Saša Šviković, Svetlana Djurica, Goran Brajušković, and Stanka Romac
  Volume 2013 (2013), Article ID 391821, 13 pages
• TNNT2 Gene Polymorphisms Are Associated with Susceptibility to Idiopathic Dilated Cardiomyopathy in the Han Chinese Population, Xiaoping Li, Huan Wang, Rong Luo, Haiyong Gu, Channa Zhang, Yu Zhang, Rutai Hui, Xiushan Wu, and Wei Hua
  Volume 2013 (2013), Article ID 201372, 6 pages
• Molecular and Survival Differences between Familial and Sporadic Gastric Cancers, Wen-Liang Fang, Shih-Ching Chang, Yuan-Tzu Lan, Kuo-Hung Huang, Su-Shun Lo, Anna Fen-Yau Li, Chin-Wen Chi, Chew-Wun Wu, and Shih-Hwa Chiou
  Volume 2013 (2013), Article ID 396272, 10 pages
• Implementation of High Resolution Whole Genome Array CGH in the Prenatal Clinical Setting: Advantages, Challenges, and Review of the Literature, Paola Evangelidou, Angelos Alexandrou, Maria Moutafi, Marios Ioannides, Pavlos Antoniou, George Koumbaris, Ioannis Kallikas, Voula Velissariou, Carolina Sismani, and Philippos C. Patsalis
  Volume 2013 (2013), Article ID 346762, 14 pages
• Detection of C. trachomatis in the Serum of the Patients with Urogenital Chlamydiosis, Naylia A. Zigangirova, Yulia P. Rumyantseva, Elena Y. Morgunova, Lidia N. Kapotina, Lubov V. Didenko, Elena A. Kost, Ekaterina A. Koroleva, Yuriy K. Bashmakov, and Ivan M. Petyaev
  Volume 2013 (2013), Article ID 489489, 7 pages
• Diagnosis of Familial Wolf-Hirschhorn Syndrome due to a Paternal Cryptic Chromosomal Rearrangement by Conventional and Molecular Cytogenetic Techniques, Carlos A. Venegas-Vega, Fernando Fernández-Ramírez, Luis M. Zepeda, Karem Nieto-Martínez, Laura Gómez-Laguna, Luz M. Garduño-Zarazúa, Jaime Berumen, Susana Kofman, and Alicia Cervantes
  Volume 2013 (2013), Article ID 209204, 8 pages
• The Italian National External Quality Assessment Program in Molecular Genetic Testing: Results of the VII Round (2010-2011), F. Censi, F. Tosto, G. Floridia, M. Marra, M. Salvatore, A. M. Baffico, M. Grasso, M. A. Melis, E. Pelo, P. Radice, A. Ravani, C. Rosatelli, N. Resta, S. Russo, M. Seia, L. Varesco, V. Falbo, and D. Taruscio
  Volume 2013 (2013), Article ID 739010, 8 pages
• Targeting the Immunogenetic Diseases with the Appropriate HLA Molecular Typing: Critical Appraisal on 2666 Patients Typed in One Single Centre, M. Guarene, C. Capittini, A. De Silvestri, A. Pasi, C. Badulli, I. Sbarsi, A. L. Cremaschi, F. Garlaschelli, C. Pizzochero, M. C. Monti, C. Montecucco, G. R. Corazza, D. Larizza, P. E. Bianchi, L. Salvaneschi, and M. Martinetti
  Volume 2013 (2013), Article ID 904247, 7 pages
• Clinical Genetic Testing of Periodic Fever Syndromes, Annalisa Marcuzzi, Elisa Piscianz, Giulio Kleiner, Alberto Tommasini, Giovanni Maria Severini, Lorenzo Monasta, and Sergio Crovella
  Volume 2013 (2013), Article ID 501305, 8 pages
• HOXA4 Gene Promoter Hypermethylation as an Epigenetic Mechanism Mediating Resistance to Imatinib Mesylate in Chronic Myeloid Leukemia Patients, Marjanu Hikmah Elias, Abdul Aziz Baba, Azlan Husin, Sarina Sulong, Rosline Hassan, Goh Ai Sim, S. Fadilah Abdul Wahid, and Ravindran Ankathil
  Volume 2013 (2013), Article ID 129715, 7 pages
• IROme, a New High-Throughput Molecular Tool for the Diagnosis of Inherited Retinal Dystrophies, Daniel F. Schorderet, Alexandra Iouranova, Tatiana Favez, Leila Tiab, and Pascal Escher
  Volume 2013 (2013), Article ID 198089, 9 pages