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Insertion mutation

Copy Number of the Transposon, Pokey, in rDNA Is Positively Correlated with rDNA Copy Number in Daphnia obtusa

Kaitlynn LeRiche, Shannon H. C. Eagle, Teresa J. Crease

published 09 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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Inactivation of SAM-Methyltransferase is the Mechanism of Attenuation of a Historic Louse Borne Typhus Vaccine Strain

Yan Liu, Bin Wu, George Weinstock, David H. Walker, Xue-jie Yu

published 20 Nov 2014

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The Generation of Successive Unmarked Mutations and Chromosomal Insertion of Heterologous Genes in Actinobacillus pleuropneumoniae Using Natural Transformation

Janine T. Bossé, Denise M. Soares-Bazzolli, Yanwen Li, Brendan W. Wren, Alexander W. Tucker, Duncan J. Maskell, Andrew N. Rycroft, Paul R. Langford, on behalf of the BRaDP1T Consortium

published 19 Nov 2014

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Characterization of a Spontaneous Novel Mutation in the NPC2 Gene in a Cat Affected by Niemann Pick Type C Disease

Stefania Zampieri, Ezio Bianchi, Carlo Cantile, Roberta Saleri, Bruno Bembi, Andrea Dardis

published 14 Nov 2014

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A Novel Mutation in the RPE65 Gene Causing Leber Congenital Amaurosis and Its Transcriptional Expression In Vitro

Guoyan Mo, Qin Ding, Zhongshan Chen, Yunbo Li, Ming Yan, Lijing Bu, Yanping Song, Guohua Yin

published 10 Nov 2014

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Presence of C1-Inhibitor Polymers in a Subset of Patients Suffering from Hereditary Angioedema

Daniel Elenius Madsen, Søren Hansen, Jørgen Gram, Anette Bygum, Christian Drouet, Johannes Jakobsen Sidelmann

published 04 Nov 2014

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The NPM1 Mutation Type Has No Impact on Survival in Cytogenetically Normal AML

Friederike Pastore, Philipp A. Greif, Stephanie Schneider, Bianka Ksienzyk, Gudrun Mellert, Evelyn Zellmeier, Jan Braess, Cristina M. Sauerland, Achim Heinecke, Utz Krug, Wolfgang E. Berdel, Thomas Buechner, Bernhard Woermann, Wolfgang Hiddemann, Karsten Spiekermann

published 09 Oct 2014

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Molecular Pathology of Rare Bleeding Disorders (RBDs) in India: A Systematic Review

Bipin P. Kulkarni, Sona B. Nair, Manasi Vijapurkar, Leenam Mota, Sharda Shanbhag, Shehnaz Ali, Shrimati D. Shetty, Kanjaksha Ghosh

published 02 Oct 2014

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Complex Analysis of Urate Transporters SLC2A9, SLC22A12 and Functional Characterization of Non-Synonymous Allelic Variants of GLUT9 in the Czech Population: No Evidence of Effect on Hyperuricemia and Gout

Olha Hurba, Andrea Mancikova, Vladimir Krylov, Marketa Pavlikova, Karel Pavelka, Blanka Stibůrková

published 30 Sep 2014

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First Report of a Deletion Encompassing an Entire Exon in the Homogentisate 1,2-Dioxygenase Gene Causing Alkaptonuria

Mohammad Zouheir Habbal, Tarek Bou-Assi, Jun Zhu, Renius Owen, Farid F. Chehab

published 18 Sep 2014

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Wolfram Syndrome in the Japanese Population; Molecular Analysis of WFS1 Gene and Characterization of Clinical Features

Kimie Matsunaga, Katsuya Tanabe, Hiroshi Inoue, Shigeru Okuya, Yasuharu Ohta, Masaru Akiyama, Akihiko Taguchi, Yukari Kora, Naoko Okayama, Yuichiro Yamada, Yasuhiko Wada, Shin Amemiya, Shigetaka Sugihara, Yuzo Nakao, Yoshitomo Oka, Yukio Tanizawa

published 11 Sep 2014

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Prognostic Value Analysis of Mutational and Clinicopathological Factors in Non-Small Cell Lung Cancer

Chenguang Li, Ligang Hao, Yue Li, Shengguang Wang, Hui Chen, Lianmin Zhang, Bin Ke, Yuesong Yin, Haijin Suo, Bingsheng Sun, Bin Zhang, Changli Wang

published 08 Sep 2014

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