Results 261 to 270 of about 213,884 (275)

Brief Report: High‐Throughput Sequencing of IL23R Reveals a Low‐Frequency, Nonsynonymous Single‐Nucleotide Polymorphism That Is Associated With Ankylosing Spondylitis in a Han Chinese Population [PDF]

Arthritis & Rheumatism, 2013
ObjectiveAnkylosing spondylitis (AS) is a highly heritable common inflammatory arthritis that targets the spine and sacroiliac joints of the pelvis, causing pain and stiffness and leading eventually to joint fusion. Although previous studies have shown a strong association of IL23R with AS in white Europeans, similar studies in East Asian populations ...
Stuart I. Davidson, Lei Jiang, Adrián Cortés, Xin Wu, Evgeny A. Glazov, Yi Zheng, Patrick Danoy, Yi Liu, Gethin Thomas, Matthew A. Brown, Huji Xu   +10 more
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Abstract 5173: Identification of single-nucleotide variants by high-throughput RNA sequencing in endemic Burkitt Lymphoma

Cancer Research, 2014
Abstract Endemic Burkitt lymphoma (eBL) constitutes the commonest cancer in children in Developing Countries, while the sporadic (sBL) and immunodeficiency associated BL (ID-BL) forms are mainly encountered in Western Countries. The molecular hallmark of three BL variants is the translocation of MYC proto-oncogene to the immunoglobulin ...
Maria Antonella Laginestra, Francesco Abate, Maryam Etebari, Giulia De Falco, Fabio Fuligni, Maura Rossi, Sakellarios Zairis, Maria Rosaria Sapienza, Anna Gazzola, Claudia Mannu, Federica Melle, Claudio Agostinelli, Mohsen Navari, Cristiana Bellan, Sara Gazaneo, Lucia Mundo, Martin D. Ogwang, Valeria Calbi, Lorenzo Leoncini, Stefano Pileri, Raúl Rabadán, Pier Paolo Piccaluga   +21 more
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Nucleotide variation at the Vitis chloroplast genome based on high-throughput sequencing and SNP genotyping

, 2014
Peer ...
Rafael Torres‐Pérez, Marie‐Christine Le Paslier, Nathalie Choisne, Roberto Baciliéri, Javier Ibáñez, Rémi Bounon, Jean‐Michel Boursiquot, Marc Bras, Dominique Brunel, Ludger Hausmann, Valérie Laucou, Thierry Lacombe, Félix Cabello, Pauline Sandra Paul Stephen Raj, Maharajah Ponnaiah, Hadi Quesneville, Reinhard Toepfer, Anne‐Françoise Adam‐Blondon, Jean-Pierre Peros, José M. Martínez‐Zapater   +19 more
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From single nucleotide polymorphisms to high-throughput sequencing in the complex genetics of amyotrophic lateral sclerosis

, 2012
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by progressive weakening of limb and bulbar muscles resulting in paralysis and death from respiratory failure within three to five years of symptom onset. The disease manifests as a consequence of sudden and rapid degeneration of upper and lower motor neurones, for ...
Russell L. McLaughlin
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IMGT/HighV-QUEST: A High-Throughput System and Web Portal for the Analysis of Rearranged Nucleotide Sequences of Antigen Receptors - High-Throughput Version of IMGT/V-QUEST

2010
MGT/HighV-QUEST has been developed by IMGT® [1], the international ImMunoGeneTics Information System® to answer the problematic of the analysis of the antigen receptor data from Next-Generation Sequencing (NGS). The analysis of the expressed repertoires of antigen receptors - immunoglobulins (IG) or antibodies and T cell receptors - represents a ...
Alamyar, Eltaf, Giudicelli, Véronique, Duroux, Patrice, Lefranc, Marie-Paule   +3 more
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Molecular characterization of a novel rhabdovirus infecting blackcurrant identified by high-throughput sequencing

Archives of Virology, 2018
Liping Wu, Liping Wu, T. Yang, Huawei Liu, J. Postman, Ruhui Li   +5 more
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Additional file 1: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

, 2016
Nadège Calmels, Géraldine Greff, Cathy Obringer, Nadine Kempf, Claire Gasnier, Julien Tarabeux, Marguerite Miguet, Geneviève Baujat, D. Bessis, Patricia Bretones, Anne Cavau, B. Digeon, Martine Doco‐Fenzy, Bérénice Doray, François Feillet, Jesús Gardeazábal, Blanca Gener, Sophie Julia, Isabel Llano‐Rivas, Artur Mazur, Caroline Michot, Florence Renaldo-Robin, Massimiliano Rossi, Pascal Sabouraud, Boris Keren, Christel Depienne, Jean Muller, Jean‐Louis Mandel, Vincent Laugel   +28 more
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Additional file 2: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

, 2016
Nadège Calmels, Géraldine Greff, Cathy Obringer, Nadine Kempf, Claire Gasnier, Julien Tarabeux, Marguerite Miguet, Geneviève Baujat, D. Bessis, Patricia Bretones, Anne Cavau, B. Digeon, Martine Doco‐Fenzy, Bérénice Doray, François Feillet, Jesús Gardeazábal, Blanca Gener, Sophie Julia, Isabel Llano‐Rivas, Artur Mazur, Caroline Michot, Florence Renaldo-Robin, Massimiliano Rossi, Pascal Sabouraud, Boris Keren, Christel Depienne, Jean Muller, Jean‐Louis Mandel, Vincent Laugel   +28 more
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Minimum information about a high‐throughput nucleotide sequencing experiment (MINSEQE)

, 2015

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Identification of single-nucleotide variants by high-throughput RNA sequencing in endemic Burkitt Lymphoma

2014
Laginestra, Maria Antonella, ABATE, FRANCESCO, Etebari, Maryam, De Falco, Giulia, Fuligni, Fabio, Rossi, Maura, Zairis, Sakellarios, Sapienza, Maria Rosaria, Gazzola, Anna, Mannu, Claudia, Melle, Federica, Agostinelli, Claudio, Navari, Mohsen, Bellan, Cristiana, Gazaneo, Sara, Mundo, Lucia, Ogwang, Martin, Calbi, Valeria, Leoncini, Lorenzo, Pileri, Stefano A., Rabadan, Raul, Piccaluga, Pier Paolo   +21 more
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