Advertisement

Browse Subject Areas

?

Click through the PLOS taxonomy to find articles in your field.

For more information about PLOS Subject Areas, click here.

Nonsense mutation

Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases

Ana Blanco, Miguel de la Hoya, Ana Osorio, Orland Diez, María Dolores Miramar, Mar Infante, Cristina Martinez-Bouzas, Asunción Torres, Adriana Lasa, Gemma Llort, Joan Brunet, Begoña Graña, Pedro Perez Segura, María José Garcia, Sara Gutiérrez-Enríquez, Ángel Carracedo, María-Isabel Tejada, Eladio A. Velasco, María-Teresa Calvo, Judith Balmaña, Javier Benitez, Trinidad Caldés, Ana Vega

published 23 Jul 2013

Loading metrics information...

Metrics unavailable. Please check back later.

Whole Genome SNP Genotyping and Exome Sequencing Reveal Novel Genetic Variants and Putative Causative Genes in Congenital Hyperinsulinism

Maria Carla Proverbio, Eleonora Mangano, Alessandra Gessi, Roberta Bordoni, Roberta Spinelli, Rosanna Asselta, Paola Sogno Valin, Stefania Di Candia, Ilaria Zamproni, Cecilia Diceglie, Stefano Mora, Manuela Caruso-Nicoletti, Alessandro Salvatoni, Gianluca De Bellis, Cristina Battaglia

published 15 Jul 2013

Loading metrics information...

Metrics unavailable. Please check back later.

Novel ATPase Cu²⁺ Transporting Beta Polypeptide Mutations in Chinese Families with Wilson's Disease

Shaojuan Gu, Huarong Yang, Yong Qi, Xiong Deng, Le Zhang, Yi Guo, Qing Huang, Jing Li, Xiaoliu Shi, Zhi Song, Hao Deng

published 02 Jul 2013

Loading metrics information...

Metrics unavailable. Please check back later.

Axonal Transport Defects in a Mitofusin 2 Loss of Function Model of Charcot-Marie-Tooth Disease in Zebrafish

Anna L. Chapman, Ellen J. Bennett, Tennore M. Ramesh, Kurt J. De Vos, Andrew J. Grierson

published 26 Jun 2013

Loading metrics information...

Metrics unavailable. Please check back later.

An Integrated Diagnosis Strategy for Congenital Myopathies

Johann Böhm, Nasim Vasli, Edoardo Malfatti, Stéphanie Le Gras, Claire Feger, Bernard Jost, Nicole Monnier, Julie Brocard, Hatice Karasoy, Marion Gérard, Maggie C. Walter, Peter Reilich, Valérie Biancalana, Christine Kretz, Nadia Messaddeq, Isabelle Marty, Joël Lunardi, Norma B. Romero, Jocelyn Laporte

published 24 Jun 2013

Loading metrics information...

Metrics unavailable. Please check back later.

Mutational Analysis of Hedgehog Signaling Pathway Genes in Human Malignant Mesothelioma

Chuan Bian Lim, Cecilia M. Prêle, Hui Min Cheah, Yuen Yee Cheng, Sonja Klebe, Glen Reid, D. Neil Watkins, Svetlana Baltic, Philip J. Thompson, Steven E. Mutsaers

published 24 Jun 2013

Loading metrics information...

Metrics unavailable. Please check back later.

Gauging NOTCH1 Activation in Cancer Using Immunohistochemistry

Michael J. Kluk, Todd Ashworth, Hongfang Wang, Birgit Knoechel, Emily F. Mason, Elizabeth A. Morgan, David Dorfman, Geraldine Pinkus, Oliver Weigert, Jason L. Hornick, Lucian R. Chirieac, Michelle Hirsch, David J. Oh, Andrew P. South, Irene M. Leigh, Celine Pourreyron, Andrew J. Cassidy, Daniel J. DeAngelo, David M. Weinstock, Ian E. Krop, Deborah Dillon, Jane E. Brock, Alexander J. F. Lazar, Myron Peto, Raymond J. Cho, Alexander Stoeck, Brian B. Haines, Sriram Sathayanrayanan, Scott Rodig, Jon C. Aster

published 18 Jun 2013

Loading metrics information...

Metrics unavailable. Please check back later.

Clinical Significance in Oral Cavity Squamous Cell Carcinoma of Pathogenic Somatic Mitochondrial Mutations

Chih-Hsiung Lai, Shiang-Fu Huang, Chun-Ta Liao, I-How Chen, Hung-Ming Wang, Ling-Ling Hsieh

published 14 Jun 2013

Loading metrics information...

Metrics unavailable. Please check back later.

Discovery of Potential New Gene Variants and Inflammatory Cytokine Associations with Fibromyalgia Syndrome by Whole Exome Sequencing

Jinong Feng, Zhifang Zhang, Xiwei Wu, Allen Mao, Frances Chang, Xutao Deng, Harry Gao, Ching Ouyang, Kenneth J. Dery, Keith Le, Jeffrey Longmate, Claudia Marek, R. Paul St. Amand, Theodore G. Krontiris, John E. Shively

published 10 Jun 2013

Loading metrics information...

Metrics unavailable. Please check back later.

The Relative Timing of Mutations in a Breast Cancer Genome

Scott Newman, Karen D. Howarth, Chris D. Greenman, Graham R. Bignell, Simon Tavaré, Paul A. W. Edwards

published 10 Jun 2013

Loading metrics information...

Metrics unavailable. Please check back later.

Whole-Exome Sequencing Enables Rapid Determination of Xeroderma Pigmentosum Molecular Etiology

Oscar Ortega-Recalde, Jéssica Inés Vergara, Dora Janeth Fonseca, Xiomara Ríos, Hernando Mosquera, Olga María Bermúdez, Claudia Liliana Medina, Clara Inés Vargas, Argemiro Enrique Pallares, Carlos Martín Restrepo, Paul Laissue

published 03 Jun 2013

Loading metrics information...

Metrics unavailable. Please check back later.

Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families

Xiu-Feng Huang, Ping Xiang, Jie Chen, Dong-Jun Xing, Na Huang, Qingjie Min, Feng Gu, Yi Tong, Chi-Pui Pang, Jia Qu, Zi-Bing Jin

published 30 May 2013

Loading metrics information...

Metrics unavailable. Please check back later.

Targeted Sequencing of Cancer-Related Genes in Colorectal Cancer Using Next-Generation Sequencing

Sae-Won Han, Hwang-Phill Kim, Jong-Yeon Shin, Eun-Goo Jeong, Won-Chul Lee, Kyung-Hun Lee, Jae-Kyung Won, Tae-Yong Kim, Do-Youn Oh, Seock-Ah Im, Yung-Jue Bang, Seung-Yong Jeong, Kyu Joo Park, Jae-Gahb Park, Gyeong Hoon Kang, Jeong-Sun Seo, Jong-Il Kim, Tae-You Kim

published 21 May 2013

Loading metrics information...

Metrics unavailable. Please check back later.

Advertisement

Create a weekly email alert for: Nonsense mutation

You can change these options by clicking profile then "Alerts and Notifications"