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Nonsense mutation

Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts

Bushra Irum, Shahid Y. Khan, Muhammad Ali, Muhammad Daud, Firoz Kabir, Bushra Rauf, Fareeha Fatima, Hira Iqbal, Arif O. Khan, Saif Al Obaisi, Muhammad Asif Naeem, Idrees A. Nasir, Shaheen N. Khan, Tayyab Husnain, Sheikh Riazuddin, Javed Akram, Allen O. Eghrari, S. Amer Riazuddin

published 09 Dec 2016

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CDH1 Missense Variant c.1679C>G (p.T560R) Completely Disrupts Normal Splicing through Creation of a Novel 5’ Splice Site

Zarina Yelskaya, Ruben Bacares, Erin Salo-Mullen, Joshua Somar, Deborah A. Lehrich, Grace-Ann Fasaye, Daniel G. Coit, Laura H. Tang, Zsofia K. Stadler, Liying Zhang

published 23 Nov 2016

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Clinical and Genetic Analysis of Multiple Endocrine Neoplasia Type 1-Related Primary Hyperparathyroidism in Chinese

Jing Kong, Ou Wang, Min Nie, Jie Shi, Yingying Hu, Yan Jiang, Mei Li, Weibo Xia, Xunwu Meng, Xiaoping Xing

published 15 Nov 2016

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Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System

Moritoshi Kinoshita, Eiji Higashihara, Haruna Kawano, Ryo Higashiyama, Daisuke Koga, Takafumi Fukui, Nobuhisa Gondo, Takehiko Oka, Kozo Kawahara, Krisztina Rigo, Tim Hague, Kiyonori Katsuragi, Kimiyoshi Sudo, Masahiko Takeshi, Shigeo Horie, Kikuo Nutahara

published 11 Nov 2016

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Chromothripsis Is a Recurrent Genomic Abnormality in High-Risk Myelodysplastic Syndromes

María Abáigar, Cristina Robledo, Rocío Benito, Fernando Ramos, María Díez-Campelo, Lourdes Hermosín, Javier Sánchez-del-Real, Jose M. Alonso, Rebeca Cuello, Marta Megido, Juan N. Rodríguez, Guillermo Martín-Núñez, Carlos Aguilar, Manuel Vargas, Ana A. Martín, Juan L. García, Alexander Kohlmann, M. Consuelo del Cañizo, Jesús M. Hernández-Rivas

published 14 Oct 2016

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Genome Analysis of Osteosarcoma Progression Samples Identifies FGFR1 Overexpression as a Potential Treatment Target and CHM as a Candidate Tumor Suppressor Gene

Tale Barøy, Chandra S. R. Chilamakuri, Susanne Lorenz, Jinchang Sun, Øyvind S. Bruland, Ola Myklebost, Leonardo A. Meza-Zepeda

published 29 Sep 2016

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Tumor Infiltrating Lymphocytes Affect the Outcome of Patients with Operable Triple-Negative Breast Cancer in Combination with Mutated Amino Acid Classes

Vassiliki Kotoula, Sotiris Lakis, Ioannis S. Vlachos, Eleni Giannoulatou, Flora Zagouri, Zoi Alexopoulou, Helen Gogas, Dimitrios Pectasides, Gerasimos Aravantinos, Ioannis Efstratiou, George Pentheroudakis, Kyriaki Papadopoulou, Kyriakos Chatzopoulos, Pavlos Papakostas, Maria Sotiropoulou, Irene Nicolaou, Evangelia Razis, Amanda Psyrri, Paris Kosmidis, Christos Papadimitriou, George Fountzilas

published 29 Sep 2016

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Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations

Shuang Liu, Weimin Zhang, Huiping Shi, Fengxia Yao, Min Wei, Zhengqing Qiu

published 23 Sep 2016

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X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations

Judith Savige, Helen Storey, Hae Il Cheong, Hee Gyung Kang, Eujin Park, Pascale Hilbert, Anton Persikov, Carmen Torres-Fernandez, Elisabet Ars, Roser Torra, Jens Michael Hertz, Mads Thomassen, Lev Shagam, Dongmao Wang, Yanyan Wang, Frances Flinter, Mato Nagel

published 14 Sep 2016

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Deleterious Rare Variants Reveal Risk for Loss of GABA_A Receptor Function in Patients with Genetic Epilepsy and in the General Population

Ciria C. Hernandez, Tara L. Klassen, Laurel G. Jackson, Katharine Gurba, Ningning Hu, Jeffrey L. Noebels, Robert L. Macdonald

published 13 Sep 2016

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Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome

Samia Abdi, Amel Bahloul, Asma Behlouli, Jean-Pierre Hardelin, Mohamed Makrelouf, Kamel Boudjelida, Malek Louha, Ahmed Cheknene, Rachid Belouni, Yahia Rous, Zahida Merad, Djamel Selmane, Mokhtar Hasbelaoui, Crystel Bonnet, Akila Zenati, Christine Petit

published 01 Sep 2016

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Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease

Xiaoxia Pan, Yan Ouyang, Zhaohui Wang, Hong Ren, Pingyan Shen, Weiming Wang, Yaowen Xu, Liyan Ni, Xialian Yu, Xiaonong Chen, Wen Zhang, Li Yang, Xiao Li, Jing Xu, Nan Chen

published 25 Aug 2016

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Molecular Characterization of Salmonella enterica Serovar Aberdeen Negative for H₂S Production in China

Fuli Wu, Xuebin Xu, Jing Xie, Shengjie Yi, Jian Wang, Xiaoxia Yang, Chaojie Yang, Beibei Liang, Qiuxia Ma, Hao Li, Hongbin Song, Shaofu Qiu

published 23 Aug 2016

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