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Mutation databases

A Novel Missense SNRNP200 Mutation Associated with Autosomal Dominant Retinitis Pigmentosa in a Chinese Family

Tiecheng Liu, Xin Jin, Xuemin Zhang, Huijun Yuan, Jing Cheng, Janet Lee, Baoquan Zhang, Maonian Zhang, Jing Wu, Lijuan Wang, Geng Tian, Weifeng Wang

published 19 Sep 2012

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Identification of Drug Resistant Mutations in HIV-1 CRF07_BC Variants Selected by Nevirapine In Vitro

Hao Wu, Hao-Jie Zhang, Xiao-min Zhang, Hui-fang Xu, Ming Wang, Jian-dong Huang, Bo-Jian Zheng

published 12 Sep 2012

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Identification of BRCA1/2 Founder Mutations in Southern Chinese Breast Cancer Patients Using Gene Sequencing and High Resolution DNA Melting Analysis

Ava Kwong, Enders Kai On Ng, Chris Lei Po Wong, Fian Bic Fai Law, Tommy Au, Hong Nei Wong, Allison W. Kurian, Dee W. West, James M. Ford, Edmond Siu Kwan Ma

published 07 Sep 2012

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Molecular Diagnosis of Usher Syndrome: Application of Two Different Next Generation Sequencing-Based Procedures

Danilo Licastro, Margherita Mutarelli, Ivana Peluso, Kornelia Neveling, Nienke Wieskamp, Rossella Rispoli, Diego Vozzi, Emmanouil Athanasakis, Angela D'Eustacchio, Mariateresa Pizzo, Francesca D'Amico, Carmela Ziviello, Francesca Simonelli, Antonella Fabretto, Hans Scheffer, Paolo Gasparini, Sandro Banfi, Vincenzo Nigro

published 29 Aug 2012

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Molecular Evolutionary Analysis of pH1N1 2009 Influenza Virus in Reunion Island, South West Indian Ocean Region: A Cohort Study

Hervé Pascalis, Sarah Temmam, David A. Wilkinson, Najla Dsouli, Magali Turpin, Xavier de Lamballerie, Koussay Dellagi

published 27 Aug 2012

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Relating the Disease Mutation Spectrum to the Evolution of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)

Lavanya Rishishwar, Neha Varghese, Eishita Tyagi, Stephen C. Harvey, I. King Jordan, Nael A. McCarty

published 07 Aug 2012

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High-Throughput Genotyping in Metastatic Esophageal Squamous Cell Carcinoma Identifies Phosphoinositide-3-Kinase and BRAF Mutations

Chi Hoon Maeng, Jeeyun Lee, Paul van Hummelen, Se Hoon Park, Emanuele Palescandolo, Jiryeon Jang, Ha Young Park, So Young Kang, Laura MacConaill, Kyoung-Mee Kim, Young-Mog Shim

published 03 Aug 2012

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SIMPLEX: Cloud-Enabled Pipeline for the Comprehensive Analysis of Exome Sequencing Data

Maria Fischer, Rene Snajder, Stephan Pabinger, Andreas Dander, Anna Schossig, Johannes Zschocke, Zlatko Trajanoski, Gernot Stocker

published 01 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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Unique Alterations of an Ultraconserved Non-Coding Element in the 3′UTR of ZIC2 in Holoprosencephaly

Erich Roessler, Ping Hu, Sung-Kook Hong, Kshitij Srivastava, Blake Carrington, Raman Sood, Hanna Petrykowska, Laura Elnitski, Lucilene A. Ribeiro, Antonio Richieri-Costa, Benjamin Feldman, Ward F. Odenwald, Maximilian Muenke

published 31 Jul 2012

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Comprehensive Mutation Analysis in Colorectal Flat Adenomas

Quirinus J. M. Voorham, Beatriz Carvalho, Angela J. Spiertz, Bart Claes, Sandra Mongera, Nicole C. T. van Grieken, Heike Grabsch, Martin Kliment, Bjorn Rembacken, Mark A. van de Wiel, Philip Quirke, Chris J. J. Mulder, Diether Lambrechts, Manon van Engeland, Gerrit A. Meijer

published 27 Jul 2012

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Genes Associated with Retinitis Pigmentosa and Allied Diseases Are Frequently Mutated in the General Population

Koji M. Nishiguchi, Carlo Rivolta

published 27 Jul 2012

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Mapping the Mutual Information Network of Enzymatic Families in the Protein Structure to Unveil Functional Features

Daniel Aguilar, Baldo Oliva, Cristina Marino Buslje

published 25 Jul 2012

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