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Nonsense mutation

Evaluation of the Contribution of the EYA4 and GRHL2 Genes in Korean Patients with Autosomal Dominant Non-Syndromic Hearing Loss

Ye-Ri Kim, Min-A Kim, Borum Sagong, Seung-Hyun Bae, Hyo-Jeong Lee, Hyung-Jong Kim, Jae Young Choi, Kyu-Yup Lee, Un-Kyung Kim

published 17 Mar 2015

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Novel ENAM and LAMB3 Mutations in Chinese Families with Hypoplastic Amelogenesis Imperfecta

Xin Wang, Yuming Zhao, Yuan Yang, Man Qin

published 13 Mar 2015

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Fifteen Novel EIF2B1-5 Mutations Identified in Chinese Children with Leukoencephalopathy with Vanishing White Matter and a Long Term Follow-Up

Haihua Zhang, Lifang Dai, Na Chen, Lili Zang, Xuerong Leng, Li Du, Jingmin Wang, Yuwu Jiang, Feng Zhang, Xiru Wu, Ye Wu

published 11 Mar 2015

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Two Novel Mutations in Myosin Binding Protein C Slow Causing Distal Arthrogryposis Type 2 in Two Large Han Chinese Families May Suggest Important Functional Role of Immunoglobulin Domain C2

Xuefu Li, Bomeng Zhong, Weitian Han, Ning Zhao, Wei Liu, Yu Sui, Yawen Wang, Yongping Lu, Hong Wang, Jianxin Li, Miao Jiang

published 13 Feb 2015

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Affected Kindred Analysis of Human X Chromosome Exomes to Identify Novel X-Linked Intellectual Disability Genes

Tejasvi S. Niranjan, Cindy Skinner, Melanie May, Tychele Turner, Rebecca Rose, Roger Stevenson, Charles E. Schwartz, Tao Wang

published 13 Feb 2015

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Identification of Several Mutations in ATP2C1 in Lebanese Families: Insight into the Pathogenesis of Hailey-Hailey Disease

Waed Btadini, Ossama K. Abou Hassan, Dana Saadeh, Ossama Abbas, Farah Ballout, Abdul-Ghani Kibbi, Ghassan Dbaibo, Nadine Darwiche, Georges Nemer, Mazen Kurban

published 06 Feb 2015

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An Efficient and Comprehensive Strategy for Genetic Diagnostics of Polycystic Kidney Disease

Tobias Eisenberger, Christian Decker, Milan Hiersche, Ruben C. Hamann, Eva Decker, Steffen Neuber, Valeska Frank, Hanno J. Bolz, Henry Fehrenbach, Lars Pape, Burkhard Toenshoff, Christoph Mache, Kay Latta, Carsten Bergmann

published 03 Feb 2015

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Mutation Spectrum of RB1 Gene in Unilateral Retinoblastoma Cases from Tunisia and Correlations with Clinical Features

Hajer Ayari-Jeridi, Kimberly Moran, Amel Chebbi, Hédi Bouguila, Imen Abbes, Khaoula Charradi, Amel Benammar-Elgaaïed, Arupa Ganguly

published 20 Jan 2015

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Characterization of the MeCP2^R168X Knockin Mouse Model for Rett Syndrome

Eike Wegener, Cornelia Brendel, Andre Fischer, Swen Hülsmann, Jutta Gärtner, Peter Huppke

published 26 Dec 2014

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Identification of Two Missense Mutations of ERCC6 in Three Chinese Sisters with Cockayne Syndrome by Whole Exome Sequencing

Shanshan Yu, Liyuan Chen, Lili Ye, Lingna Fei, Wei Tang, Yujiao Tian, Qian Geng, Xin Yi, Jiansheng Xie

published 02 Dec 2014

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TP53 Pro72 Allele Is Enriched in Oral Tongue Cancer and Frequently Mutated in Esophageal Cancer in India

Raju S. R. Adduri, Rajender Katamoni, Ramaswamy Pandilla, Sandeep N. Madana, Arun Kumar Paripati, Viswakalyan Kotapalli, Murali Dharan Bashyam

published 01 Dec 2014

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Exome Sequencing in 53 Sporadic Cases of Schizophrenia Identifies 18 Putative Candidate Genes

Michel Guipponi, Federico A. Santoni, Vincent Setola, Corinne Gehrig, Maud Rotharmel, Macarena Cuenca, Olivier Guillin, Dimitris Dikeos, Georgios Georgantopoulos, George Papadimitriou, Logos Curtis, Alexandre Méary, Franck Schürhoff, Stéphane Jamain, Dimitri Avramopoulos, Marion Leboyer, Dan Rujescu, Ann Pulver, Dominique Campion, David P. Siderovski, Stylianos E. Antonarakis

published 24 Nov 2014

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Novel KRAS Gene Mutations in Sporadic Colorectal Cancer

Walid M. Naser, Mohamed A. Shawarby, Dalal M. Al-Tamimi, Arun Seth, Abdulaziz Al-Quorain, Areej M. Al Nemer, Omar M. E. Albagha

published 20 Nov 2014

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