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Frameshift mutation

ZMYND10 - Mutation Analysis in Slavic Patients with Primary Ciliary Dyskinesia

Małgorzata Kurkowiak, Ewa Ziętkiewicz, Agnieszka Greber, Katarzyna Voelkel, Alina Wojda, Andrzej Pogorzelski, Michał Witt

published 29 Jan 2016

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FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients

Avani Solanki, Purvi Mohanty, Pallavi Shukla, Anita Rao, Kanjaksha Ghosh, Babu Rao Vundinti

published 22 Jan 2016

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Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

Nicole Weisschuh, Anja K. Mayer, Tim M. Strom, Susanne Kohl, Nicola Glöckle, Max Schubach, Sten Andreasson, Antje Bernd, David G. Birch, Christian P. Hamel, John R. Heckenlively, Samuel G. Jacobson, Christina Kamme, Ulrich Kellner, Erdmute Kunstmann, Pietro Maffei, Charlotte M. Reiff, Klaus Rohrschneider, Thomas Rosenberg, Günther Rudolph, Rita Vámos, Balázs Varsányi, Richard G. Weleber, Bernd Wissinger

published 14 Jan 2016

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A20 Mutation Is Not a Prognostic Marker for Activated B-Cell-Like Diffuse Large B-Cell Lymphoma

Hong Cen, Xiaohong Tan, Baoping Guo

published 30 Dec 2015

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Prevalence of Titin Truncating Variants in General Population

Oyediran Akinrinade, Juha W. Koskenvuo, Tero-Pekka Alastalo

published 23 Dec 2015

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Genetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center

Isabella Giovannoni, Francesco Callea, Emanuele Bellacchio, Giuliano Torre, Jean De Ville De Goyet, Paola Francalanci

published 17 Dec 2015

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A Low Frequency of Losses in 11q Chromosome Is Associated with Better Outcome and Lower Rate of Genomic Mutations in Patients with Chronic Lymphocytic Leukemia

José Ángel Hernández, María Hernández-Sánchez, Ana Eugenia Rodríguez-Vicente, Vera Grossmann, Rosa Collado, Cecilia Heras, Anna Puiggros, Ana África Martín, Noemí Puig, Rocío Benito, Cristina Robledo, Julio Delgado, Teresa González, José Antonio Queizán, Josefina Galende, Ignacio de la Fuente, Guillermo Martín-Núñez, José María Alonso, Pau Abrisqueta, Elisa Luño, Isabel Marugán, Isabel González-Gascón, Francesc Bosch, Alexander Kohlmann, Marcos González, Blanca Espinet, Jesús María Hernández-Rivas, Grupo Cooperativo Español de Citogenética Hematológica (GCECGH) and Grupo Español de Leucemia Linfática Crónica (GELLC)

published 02 Dec 2015

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Alagille Syndrome Mimicking Biliary Atresia in Early Infancy

Tomáš Dědič, Milan Jirsa, Radan Keil, Michal Rygl, Jiri Šnajdauf, Radana Kotalová

published 30 Nov 2015

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Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome

Toshiya Okumura, Kengo Furuichi, Tomomi Higashide, Mayumi Sakurai, Shin-ichi Hashimoto, Yasuyuki Shinozaki, Akinori Hara, Yasunori Iwata, Norihiko Sakai, Kazuhisa Sugiyama, Shuichi Kaneko, Takashi Wada

published 16 Nov 2015

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A Naturally Occurring rev1-vpu Fusion Gene Does Not Confer a Fitness Advantage to HIV-1

Simon M. Langer, Kristina Hopfensperger, Shilpa S. Iyer, Edward F. Kreider, Gerald H. Learn, Lan-Hui Lee, Beatrice H. Hahn, Daniel Sauter

published 10 Nov 2015

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Simultaneous Detection of Both Single Nucleotide Variations and Copy Number Alterations by Next-Generation Sequencing in Gorlin Syndrome

Kei-ichi Morita, Takuya Naruto, Kousuke Tanimoto, Chisato Yasukawa, Yu Oikawa, Kiyoshi Masuda, Issei Imoto, Johji Inazawa, Ken Omura, Hiroyuki Harada

published 06 Nov 2015

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Hereditary Angioedema Due to C1 Inhibitor Deficiency in Serbia: Two Novel Mutations and Evidence of Genotype-Phenotype Association

Slađana Andrejević, Peter Korošec, Mira Šilar, Mitja Košnik, Radovan Mijanović, Branka Bonači-Nikolić, Matija Rijavec

published 04 Nov 2015

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Calreticulin Mutations in Myeloproliferative Neoplasms: Comparison of Three Diagnostic Methods

Ji-Hye Park, Margaux Sevin, Selim Ramla, Aurélie Truffot, Tiffany Verrier, Dominique Bouchot, Martine Courtois, Mathilde Bas, Sonia Benali, François Bailly, Bernardine Favre, Julien Guy, Laurent Martin, Marc Maynadié, Serge Carillo, François Girodon

published 26 Oct 2015

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