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Mutation detection

Single Nucleotide Polymorphism Array Lesions, TET2, DNMT3A, ASXL1 and CBL Mutations Are Present in Systemic Mastocytosis

Fabiola Traina, Valeria Visconte, Anna M. Jankowska, Hideki Makishima, Christine L. O’Keefe, Paul Elson, Yingchun Han, Fred H. Hsieh, Mikkael A. Sekeres, Raghuveer Singh Mali, Matt Kalaycio, Alan E. Lichtin, Anjali S. Advani, Hien K. Duong, Edward Copelan, Reuben Kapur, Sara T. Olalla Saad, Jaroslaw P. Maciejewski, Ramon V. Tiu

published 15 Aug 2012

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Variability in the Precore and Core Promoter Regions of HBV Strains in Morocco: Characterization and Impact on Liver Disease Progression

Bouchra Kitab, Abdellah Essaid El Feydi, Rajaa Afifi, Christian Trepo, Mustapha Benazzouz, Wafaa Essamri, Fabien Zoulim, Isabelle Chemin, Hanane Salih Alj, Sayeh Ezzikouri, Soumaya Benjelloun

published 14 Aug 2012

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Prevalence and Clinical Features of Hearing Loss Patients with CDH23 Mutations: A Large Cohort Study

Maiko Miyagawa, Shin-ya Nishio, Shin-ichi Usami

published 10 Aug 2012

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PRRT2 Mutations in Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions in a Taiwanese Cohort

Yi-Chung Lee, Ming-Jen Lee, Hsiang-Yu Yu, Chien Chen, Chang-Hung Hsu, Kon-Ping Lin, Kwong-Kum Liao, Ming-Hong Chang, Yi-Chu Liao, Bing-Wen Soong

published 01 Aug 2012

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Long-Term Hepatitis B Virus (HBV) Response to Lamivudine-Containing Highly Active Antiretroviral Therapy in HIV-HBV Co-Infected Patients in Thailand

Woottichai Khamduang, Catherine Gaudy-Graffin, Nicole Ngo-Giang-Huong, Gonzague Jourdain, Alain Moreau, Nuananong Luekamlung, Guttiga Halue, Yuwadee Buranawanitchakorn, Sura Kunkongkapan, Sudanee Buranabanjasatean, Marc Lallemant, Wasna Sirirungsi, Alain Goudeau, for the Program for HIV Prevention and Treatment (PHPT) study group

published 31 Jul 2012

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Complex Mutations & Subpopulations of Deletions at Exon 19 of EGFR in NSCLC Revealed by Next Generation Sequencing: Potential Clinical Implications

Antonio Marchetti, Maela Del Grammastro, Giampaolo Filice, Lara Felicioni, Giulio Rossi, Paolo Graziano, Giuliana Sartori, Alvaro Leone, Sara Malatesta, Michele Iacono, Luigi Guetti, Patrizia Viola, Felice Mucilli, Franco Cuccurullo, Fiamma Buttitta

published 27 Jul 2012

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Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants

Stefania Zampieri, Silvia Cattarossi, Ana Maria Oller Ramirez, Camillo Rosano, Charles Marques Lourenco, Nadia Passon, Isabella Moroni, Graziella Uziel, Antonella Pettinari, Franco Stanzial, Raquel Dodelson de Kremer, Nydia Beatriz Azar, Filiz Hazan, Mirella Filocamo, Bruno Bembi, Andrea Dardis

published 27 Jul 2012

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Identification of SCN1A and PCDH19 Mutations in Chinese Children with Dravet Syndrome

Anna Ka-Yee Kwong, Cheuk-Wing Fung, Siu-Yuen Chan, Virginia Chun-Nei Wong

published 25 Jul 2012

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Development and Characterization of a New TILLING Population of Common Bread Wheat (Triticum aestivum L.)

Liang Chen, Linzhou Huang, Donghong Min, Andy Phillips, Shiqiang Wang, Pippa J. Madgwick, Martin A. J. Parry, Yin-Gang Hu

published 23 Jul 2012

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Clonal Analysis in Recurrent Astrocytic, Oligoastrocytic and Oligodendroglial Tumors Implicates IDH1- Mutation as Common Tumor Initiating Event

Ulrike Lass, Astrid Nümann, Kajetan von Eckardstein, Jürgen Kiwit, Florian Stockhammer, Jörn A. Horaczek, Julian Veelken, Christel Herold-Mende, Judith Jeuken, Andreas von Deimling, Wolf Mueller

published 23 Jul 2012

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Mitochondrial Genome Variations in Advanced Stage Endometriosis: A Study in South Indian Population

Suresh Govatati, Nageswara Rao Tipirisetti, Shyam Perugu, Vijaya Lakshmi Kodati, Mamata Deenadayal, Vishnupriya Satti, Manjula Bhanoori, S. Shivaji

published 17 Jul 2012

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Use of Multiplex Allele-Specific Polymerase Chain Reaction (MAS-PCR) to Detect Multidrug-Resistant Tuberculosis in Panama

Bing-Shao Chia, Fedora Lanzas, Dalin Rifat, Aubrey Herrera, Elizabeth Y. Kim, Christine Sailer, Edith Torres-Chavolla, Purvaja Narayanaswamy, Viktor Einarsson, Jaime Bravo, Juan M. Pascale, Thomas R. Ioerger, James C. Sacchettini, Petros C. Karakousis

published 06 Jul 2012

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HCV Genotypes Are Differently Prone to the Development of Resistance to Linear and Macrocyclic Protease Inhibitors

Valeria Cento, Carmen Mirabelli, Romina Salpini, Salvatore Dimonte, Anna Artese, Giosuè Costa, Fabio Mercurio, Valentina Svicher, Lucia Parrotta, Ada Bertoli, Marco Ciotti, Daniele Di Paolo, Cesare Sarrecchia, Massimo Andreoni, Stefano Alcaro, Mario Angelico, Carlo Federico Perno, Francesca Ceccherini-Silberstein

published 06 Jul 2012

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