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Mutation databases

New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy

Sarah Moreau-Le Lan, Elena Aller, Ines Calabria, Lola Gonzalez-Tarancon, Cristina Cardona-Gay, Marina Martinez-Matilla, Maria J. Aparisi, Jorge Selles, Lydia Sagath, Inmaculada Pitarch, Nuria Muelas, Jose V. Cervera, Jose M. Millan, Laia Pedrola

published 05 Dec 2018

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Evaluation of transcriptionally regulated genes identifies NCOR1 in hormone receptor negative breast tumors and lung adenocarcinomas as a potential tumor suppressor gene

María del Mar Noblejas-López, Sara Morcillo-García, Cristina Nieto-Jiménez, Miriam Nuncia-Cantarero, Balázs Győrffy, Eva M. Galan-Moya, Atanasio Pandiella, Alberto Ocaña

published 28 Nov 2018

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Increasing proportions of HIV-1 non-B subtypes and of NNRTI resistance between 2013 and 2016 in Germany: Results from the national molecular surveillance of new HIV-diagnoses

Andrea Hauser, Alexandra Hofmann, Karolin Meixenberger, Britta Altmann, Kirsten Hanke, Viviane Bremer, Barbara Bartmeyer, Norbert Bannert

published 08 Nov 2018

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The modular network structure of the mutational landscape of Acute Myeloid Leukemia

Mariam Ibáñez, José Carbonell-Caballero, Esperanza Such, Luz García-Alonso, Alessandro Liquori, María López-Pavía, Marta Llop, Carmen Alonso, Eva Barragán, Inés Gómez-Seguí, Alexander Neef, David Hervás, Pau Montesinos, Guillermo Sanz, Miguel Angel Sanz, Joaquín Dopazo, José Cervera

published 10 Oct 2018

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HIV-1C proviral DNA for detection of drug resistance mutations

Kahsay Huruy, Andargachew Mulu, Uwe Gerd Liebert, Maier Melanie

published 04 Oct 2018

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Tumorigenicity-associated characteristics of human iPS cell lines

Satoshi Yasuda, Shinji Kusakawa, Takuya Kuroda, Takumi Miura, Keiko Tano, Nozomi Takada, Satoko Matsuyama, Akifumi Matsuyama, Michiyo Nasu, Akihiro Umezawa, Takao Hayakawa, Hideki Tsutsumi, Yoji Sato

published 04 Oct 2018

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A neoepitope derived from a novel human germline APC gene mutation in familial adenomatous polyposis shows selective immunogenicity

Snigdha Majumder, Rakshit Shah, Jisha Elias, Yogesh Mistry, Karunakaran Coral, Priyanka Shah, Anand Kumar Maurya, Bharti Mittal, Jason K. D’Silva, Sakthivel Murugan, Lakshmi Mahadevan, Rekha Sathian, V. L. Ramprasad, Papia Chakraborty, Ravi Gupta, Amitabha Chaudhuri, Arati Khanna-Gupta

published 26 Sep 2018

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High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism

Nina Makretskaya, Olga Bezlepkina, Anna Kolodkina, Alexey Kiyaev, Evgeny V. Vasilyev, Vasily Petrov, Svetlana Kalinenkova, Oleg Malievsky, Ivan I. Dedov, Anatoly Tiulpakov

published 21 Sep 2018

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Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure

Sari U. M. Vanninen, Krista Leivo, Eija H. Seppälä, Katriina Aalto-Setälä, Olli Pitkänen, Piia Suursalmi, Antti-Pekka Annala, Ismo Anttila, Tero-Pekka Alastalo, Samuel Myllykangas, Tiina M. Heliö, Juha W. Koskenvuo

published 20 Sep 2018

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Prevalence and spectrum of AKT1, PIK3CA, PTEN and TP53 somatic mutations in Chinese breast cancer patients

Guoli Li, Xinwu Guo, Ming Chen, Lili Tang, Hui Jiang, Julia X. Day, Yueliang Xie, Limin Peng, Xunxun Xu, Jinliang Li, Shouman Wang, Zhi Xiao, Lizhong Dai, Jun Wang

published 13 Sep 2018

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Whole exome sequencing in Finnish families identifies new candidate genes for osteoarthritis

Sini Skarp, Olli-Pekka Kämäräinen, Gong-Hong Wei, Eveliina Jakkula, Ilkka Kiviranta, Heikki Kröger, Juha Auvinen, Petri Lehenkari, Leena Ala-Kokko, Minna Männikkö

published 29 Aug 2018

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Rare gene deletions in genetic generalized and Rolandic epilepsies

Kamel Jabbari, Dheeraj R. Bobbili, Dennis Lal, Eva M. Reinthaler, Julian Schubert, Stefan Wolking, Vishal Sinha, Susanne Motameny, Holger Thiele, Amit Kawalia, Janine Altmüller, Mohammad Reza Toliat, Robert Kraaij, Jeroen van Rooij, André G. Uitterlinden, M. Arfan Ikram, EuroEPINOMICS CoGIE Consortium , Federico Zara, Anna-Elina Lehesjoki, Roland Krause, Fritz Zimprich, Thomas Sander, Bernd A. Neubauer, Patrick May, Holger Lerche, Peter Nürnberg

published 27 Aug 2018

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Epidemiological surveillance of HIV-1 transmitted drug resistance among newly diagnosed individuals in Shijiazhuang, northern China, 2014–2015

Xianfeng Wang, Xiaosong Liu, Feng Li, Hong Zhou, Jiefang Li, Yingying Wang, Lihua Liu, Shujun Liu, Yi Feng, Ning Wang

published 05 Jun 2018

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