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Mutation detection

The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families

Behzad Davarniya, Hao Hu, Kimia Kahrizi, Luciana Musante, Zohreh Fattahi, Masoumeh Hosseini, Fariba Maqsoud, Reza Farajollahi, Thomas F. Wienker, H. Hilger Ropers, Hossein Najmabadi

published 26 Aug 2015

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Prevalence of CADASIL and Fabry Disease in a Cohort of MRI Defined Younger Onset Lacunar Stroke

Laura L. Kilarski, Loes C. A. Rutten-Jacobs, Steve Bevan, Rob Baker, Ahamad Hassan, Derralynn A. Hughes, Hugh S. Markus, UK Young Lacunar Stroke DNA Study

published 25 Aug 2015

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Single-Cell Genetic Analysis Using Automated Microfluidics to Resolve Somatic Mosaicism

Keith E. Szulwach, Peilin Chen, Xiaohui Wang, Jing Wang, Lesley S. Weaver, Michael L. Gonzales, Gang Sun, Marc A. Unger, Ramesh Ramakrishnan

published 24 Aug 2015

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Creation of Mice Bearing a Partial Duplication of HPRT Gene Marked with a GFP Gene and Detection of Revertant Cells In Situ as GFP-Positive Somatic Cells

Asao Noda, Hirofumi Suemori, Yuko Hirai, Kanya Hamasaki, Yoshiaki Kodama, Hiroshi Mitani, Reid D. Landes, Nori Nakamura

published 21 Aug 2015

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Emergence of Lamivudine-Resistant HBV during Antiretroviral Therapy Including Lamivudine for Patients Coinfected with HIV and HBV in China

Lijun Gu, Yang Han, Yijia Li, Ting Zhu, Xiaojing Song, Ying Huang, Feifei Yang, Shuo Guan, Jing Xie, Jin Gohda, Noriaki Hosoya, Ai Kawana-Tachikawa, Wenjun Liu, George Fu Gao, Aikichi Iwamoto, Taisheng Li, Takaomi Ishida

published 19 Aug 2015

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CRISPR/Cas9-Mediated Genome Editing in Soybean Hairy Roots

Yupeng Cai, Li Chen, Xiujie Liu, Shi Sun, Cunxiang Wu, Bingjun Jiang, Tianfu Han, Wensheng Hou

published 18 Aug 2015

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Parkinson’s Disease in Saudi Patients: A Genetic Study

Bashayer R. Al-Mubarak, Saeed A. Bohlega, Thamer S. Alkhairallah, Amna I. Magrashi, Maha I. AlTurki, Dania S. Khalil, Basma S. AlAbdulaziz, Hussam Abou Al-Shaar, Abeer E. Mustafa, Eman A. Alyemni, Bashayer A. Alsaffar, Asma I. Tahir, Nada A. Al Tassan

published 14 Aug 2015

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Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases

Yanqiu Liu, Xiaoming Wei, Xiangdong Kong, Xueqin Guo, Yan Sun, Jianfen Man, Lique Du, Hui Zhu, Zelan Qu, Ping Tian, Bing Mao, Yun Yang

published 14 Aug 2015

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Individual Substitution Mutations in the AID C Terminus That Ablate IgH Class Switch Recombination

Tatenda Kadungure, Anna J. Ucher, Erin K. Linehan, Carol E. Schrader, Janet Stavnezer

published 12 Aug 2015

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Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China

Yi Jiang, Shasha Huang, Tao Deng, Lihua Wu, Juan Chen, Dongyang Kang, Xiufeng Xu, Ruiyu Li, Dongyi Han, Pu Dai

published 07 Aug 2015

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Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease

Yi-Chu Liao, Yo-Tsen Liu, Pei-Chien Tsai, Chia-Ching Chang, Yen-Hua Huang, Bing-Wen Soong, Yi-Chung Lee

published 05 Aug 2015

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Prevalence and Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency at the China-Myanmar Border

Qing Li, Fang Yang, Rong Liu, Lan Luo, Yuling Yang, Lu Zhang, Huaie Liu, Wen Zhang, Zhixiang Fan, Zhaoqing Yang, Liwang Cui, Yongshu He

published 30 Jul 2015

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Predictive Factors for BRCA1 and BRCA2 Genetic Testing in an Asian Clinic-Based Population

Edward S. Y. Wong, Sandhya Shekar, Claire H. T. Chan, Lewis Z. Hong, Suk-Yean Poon, Toomas Silla, Clarabelle Lin, Vikrant Kumar, Sonia Davila, Mathijs Voorhoeve, Aye Aye Thike, Gay Hui Ho, Yoon Sim Yap, Puay Hoon Tan, Min-Han Tan, Peter Ang, Ann S. G. Lee

published 29 Jul 2015

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