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Frameshift mutation

Exome Sequencing Identifies a Mutation in EYA4 as a Novel Cause of Autosomal Dominant Non-Syndromic Hearing Loss

Fei Liu, Jiongjiong Hu, Wenjun Xia, Lili Hao, Jing Ma, Duan Ma, Zhaoxin Ma

published 11 May 2015

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Atypical Role for PhoU in Mutagenic Break Repair under Stress in Escherichia coli

Janet L. Gibson, Mary-Jane Lombardo, Ildiko Aponyi, Diana Vera Cruz, Mellanie P. Ray, Susan M. Rosenberg

published 11 May 2015

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Analysis of Mutations in 7 Genes Associated with Neuronal Excitability and Synaptic Transmission in a Cohort of Children with Non-Syndromic Infantile Epileptic Encephalopathy

Anna Ka-Yee Kwong, Alvin Chi-Chung Ho, Cheuk-Wing Fung, Virginia Chun-Nei Wong

published 07 May 2015

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Dissecting Genomic Aberrations in Myeloproliferative Neoplasms by Multiplex-PCR and Next Generation Sequencing

Martin M. J. Kirschner, Mirle Schemionek, Claudia Schubert, Nicolas Chatain, Stephanie Sontag, Susanne Isfort, Nadina Ortiz-Brüchle, Karla Schmitt, Luisa Krüger, Klaus Zerres, Martin Zenke, Tim H. Brümmendorf, Steffen Koschmieder

published 20 Apr 2015

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Gene Editing by Co-Transformation of TALEN and Chimeric RNA/DNA Oligonucleotides on the Rice OsEPSPS Gene and the Inheritance of Mutations

Mugui Wang, Yujun Liu, Cuicui Zhang, Jianping Liu, Xin Liu, Liangchao Wang, Wenyi Wang, Hao Chen, Chuchu Wei, Xiufen Ye, Xinyuan Li, Jumin Tu

published 09 Apr 2015

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A Family with Atypical Hailey Hailey Disease- Is There More to the Underlying Genetics than ATP2C1?

Nina van Beek, Aikaterini Patsatsi, Yask Gupta, Steffen Möller, Miriam Freitag, Susanne Lemcke, Andreas Recke, Detlef Zillikens, Enno Schmidt, Saleh Ibrahim

published 02 Apr 2015

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Antithrombin III Deficiency in Indian Patients with Deep Vein Thrombosis: Identification of First India Based AT Variants Including a Novel Point Mutation (T280A) that Leads to Aggregation

Teena Bhakuni, Amit Sharma, Qudsia Rashid, Charu Kapil, Renu Saxena, Manoranjan Mahapatra, Mohamad Aman Jairajpuri

published 26 Mar 2015

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Whole Exome Sequencing Identifies Mutations in Usher Syndrome Genes in Profoundly Deaf Tunisian Patients

Zied Riahi, Crystel Bonnet, Rim Zainine, Saida Lahbib, Yosra Bouyacoub, Rym Bechraoui, Jihène Marrakchi, Jean-Pierre Hardelin, Malek Louha, Leila Largueche, Salim Ben Yahia, Moncef Kheirallah, Leila Elmatri, Ghazi Besbes, Sonia Abdelhak, Christine Petit

published 23 Mar 2015

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Canine Disorder Mirrors Human Disease: Exonic Deletion in HES7 Causes Autosomal Recessive Spondylocostal Dysostosis in Miniature Schnauzer Dogs

Cali E. Willet, Mariano Makara, George Reppas, George Tsoukalas, Richard Malik, Bianca Haase, Claire M. Wade

published 06 Feb 2015

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Whole Genome Sequencing Reveals a De Novo SHANK3 Mutation in Familial Autism Spectrum Disorder

Sergio I. Nemirovsky, Marta Córdoba, Jonathan J. Zaiat, Sabrina P. Completa, Patricia A. Vega, Dolores González-Morón, Nancy M. Medina, Mónica Fabbro, Soledad Romero, Bianca Brun, Santiago Revale, María Florencia Ogara, Adali Pecci, Marcelo Marti, Martin Vazquez, Adrián Turjanski, Marcelo A. Kauffman

published 03 Feb 2015

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Differential Requirement for irf8 in Formation of Embryonic and Adult Macrophages in Zebrafish

Celia E. Shiau, Zoe Kaufman, Ana M. Meireles, William S. Talbot

published 23 Jan 2015

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Whole Genome Sequence Analysis Suggests Intratumoral Heterogeneity in Dissemination of Breast Cancer to Lymph Nodes

Kevin Blighe, Laura Kenny, Naina Patel, David S. Guttery, Karen Page, Julian H. Gronau, Cyrus Golshani, Justin Stebbing, R. Charles Coombes, Jacqueline A. Shaw

published 29 Dec 2014

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Frequency of COL4A3/COL4A4 Mutations amongst Families Segregating Glomerular Microscopic Hematuria and Evidence for Activation of the Unfolded Protein Response. Focal and Segmental Glomerulosclerosis Is a Frequent Development during Ageing

Louiza Papazachariou, Panayiota Demosthenous, Myrtani Pieri, Gregory Papagregoriou, Isavella Savva, Christoforos Stavrou, Michael Zavros, Yiannis Athanasiou, Kyriakos Ioannou, Charalambos Patsias, Alexia Panagides, Costas Potamitis, Kyproula Demetriou, Marios Prikis, Michael Hadjigavriel, Maria Kkolou, Panayiota Loukaidou, Androulla Pastelli, Aristos Michael, Akis Lazarou, Maria Arsali, Loukas Damianou, Ioanna Goutziamani, Andreas Soloukides, Lakis Yioukas, Avraam Elia, Ioanna Zouvani, Polycarpos Polycarpou, Alkis Pierides, Konstantinos Voskarides, Constantinos Deltas

published 16 Dec 2014

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