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Nonsense mutation

Functional Analysis of Mutations in Exon 9 of NF1 Reveals the Presence of Several Elements Regulating Splicing

Elisabete Hernández-Imaz, Yolanda Martín, Laura de Conti, German Melean, Ana Valero, Marco Baralle, Concepción Hernández-Chico

published 28 Oct 2015

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Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing

Liping Yang, Hui Cui, Xiaobei Yin, Hongliang Dou, Lin Zhao, Ningning Chen, Jinlu Zhang, Huirong Zhang, Genlin Li, Zhizhong Ma

published 23 Oct 2015

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Effects of p35 Mutations Associated with Mental Retardation on the Cellular Function of p35-CDK5

Shunsuke Takada, Keiko Mizuno, Taro Saito, Akiko Asada, Karl Peter Giese, Shin-ichi Hisanaga

published 15 Oct 2015

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Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective

Zhao Chen, Wei Ye, Zhe Long, Dongxue Ding, Huirong Peng, Xuan Hou, Rong Qiu, Kun Xia, Beisha Tang, Hong Jiang

published 06 Oct 2015

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Antimicrobial Resistance and Molecular Investigation of H₂S-Negative Salmonella enterica subsp. enterica serovar Choleraesuis Isolates in China

Jing Xie, Shengjie Yi, Jiangong Zhu, Peng Li, Beibei Liang, Hao Li, Xiaoxia Yang, Ligui Wang, Rongzhang Hao, Leili Jia, Zhihao Wu, Shaofu Qiu, Hongbin Song

published 02 Oct 2015

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Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese

Lee-Moay Lim, Xuan Zhao, Mei-Chyn Chao, Jer-Ming Chang, Wei-Chiao Chang, Hung-Ying Kao, Daw-Yang Hwang, Hung-Chun Chen

published 30 Sep 2015

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A Novel AXIN2 Missense Mutation Is Associated with Non-Syndromic Oligodontia

Haochen Liu, Tingting Ding, Yuan Zhan, Hailan Feng

published 25 Sep 2015

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Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing

Bruno Maranhao, Pooja Biswas, Alexander D. H. Gottsch, Mili Navani, Muhammad Asif Naeem, John Suk, Justin Chu, Sheen N. Khan, Rachel Poleman, Javed Akram, Sheikh Riazuddin, Pauline Lee, S. Amer Riazuddin, J. Fielding Hejtmancik, Radha Ayyagari

published 09 Sep 2015

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The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan

Makito Hirano, Wataru Satake, Kenji Ihara, Ikuya Tsuge, Shuji Kondo, Ken Saida, Hiroyuki Betsui, Kazuhiro Okubo, Hikaru Sakamoto, Shuichi Ueno, Yasushi Ikuno, Ryu Ishihara, Hiromi Iwahashi, Mitsuru Ohishi, Toshiyuki Mano, Toshihide Yamashita, Yutaka Suzuki, Yusaku Nakamura, Susumu Kusunoki, Tatsushi Toda

published 01 Sep 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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Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases

Marta Gómez-Grau, Elena Garrido, Mónica Cozar, Víctor Rodriguez-Sureda, Carmen Domínguez, Concepción Arenas, Richard A. Gatti, Bru Cormand, Daniel Grinberg, Lluïsa Vilageliu

published 19 Aug 2015

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DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations

Jonas Juan-Mateu, Lidia Gonzalez-Quereda, Maria Jose Rodriguez, Manel Baena, Edgard Verdura, Andres Nascimento, Carlos Ortez, Montserrat Baiget, Pia Gallano

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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