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Research article   Open Access

Circadian transcriptome analysis in human fibroblasts from Hunter syndrome and impact of iduronate-2-sulfatase treatment

Gianluigi Mazzoccoli, Rosella Tomanin, Tommaso Mazza, Francesca D¿Avanzo, Marika Salvalaio, Laura Rigon, Alessandra Zanetti, Valerio Pazienza, Massimo Francavilla, Francesco Giuliani, Manlio Vinciguerra, Maurizio Scarpa BMC Medical Genomics 2013, 6:37 (2 October 2013)

Abstract | Provisional PDF

Research article   Open Access

MicroRNA/mRNA profiling and regulatory network of intracranial aneurysm

Yugang Jiang, Mingming Zhang, Hua He, Jia Chen, Hua Zeng, Jia Li, Ranhui Duan BMC Medical Genomics 2013, 6:36 (30 September 2013)

Abstract | Provisional PDF

Research article   Open Access

Genomic pathway analysis reveals that EZH2 and HDAC4 represent mutually exclusive epigenetic pathways across human cancers

Adam L Cohen, Stephen R Piccolo, Luis Cheng, Rafaella Soldi, Bing Han, W Evan Johnson, Andrea H Bild BMC Medical Genomics 2013, 6:35 (30 September 2013)

Abstract | Provisional PDF

Research article   Open Access

Pathway-based outlier method reveals heterogeneous genomic structure of autism in blood transcriptome

Malcolm G Campbell, Isaac S Kohane, Sek Kong BMC Medical Genomics 2013, 6:34 (24 September 2013)

Abstract | Full text | PDF | PubMed

Research article   Open Access

An integrated transcriptome and epigenome analysis identifies a novel candidate gene for pancreatic cancer

Jinping Jia, Hemang Parikh, Wenming Xiao, Jason W Hoskins, Holger Pflicke, Xuelu Liu, Irene Collins, Weiyin Zhou, Zhaoming Wang, John Powell, Snorri S Thorgeirsson, Udo Rudloff, Gloria M Petersen, Laufey T Amundadottir BMC Medical Genomics 2013, 6:33 (22 September 2013)

Abstract | Full text | PDF | PubMed

Case report   Open Access

De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies

Darrell L Dinwiddie, Sarah E Soden, Carol J Saunders, Neil A Miller, Emily G Farrow, Laurie D Smith, Stephen F Kingsmore BMC Medical Genomics 2013, 6:32 (17 September 2013)

Abstract | Provisional PDF | PubMed

Software   Open Access

Genotyping of human neutrophil antigens (HNA) from whole genome sequencing data

Hsueh-Ting Chu, Han Lin, Theresa Tsun-Hui Tsao, Chun-Fan Chang, William WL Hsiao, Tze-Jung Yeh, Ching-Mao Chang, Yen-Wenn Liu, Tse-Yi Wang, Ko-Chun Yang, Tsung-Jui Chen, Jen-Chih Chen, Kuang-Chi Chen, Cheng-Yan Kao BMC Medical Genomics 2013, 6:31 (12 September 2013)

Abstract | Provisional PDF | PubMed

Research article   Open Access

Identification of potential synthetic lethal genes to p53 using a computational biology approach

Xiaosheng Wang, Richard Simon BMC Medical Genomics 2013, 6:30 (11 September 2013)

Abstract | Full text | PDF | ePUB | PubMed

Research article   Open Access

Polymorphisms in nitric oxide synthase and endothelin genes among children with obstructive sleep apnea

Siriporn Chatsuriyawong, David Gozal, Leila Kheirandish-Gozal, Rakesh Bhattacharjee, Ahamed A Khalyfa, Yang Wang, Wasana Sukhumsirichart, Abdelnaby Khalyfa BMC Medical Genomics 2013, 6:29 (6 September 2013)

Abstract | Full text | PDF | PubMed

Research article   Open Access

Whole transcriptome sequencing identifies tumor-specific mutations in human oral squamous cell carcinoma

Qu Zhang, Jun Zhang, Hong Jin, Sitong Sheng BMC Medical Genomics 2013, 6:28 (4 September 2013)

Abstract | Full text | PDF | ePUB | PubMed

Research article   Open Access

Small nucleolar RNAs as new biomarkers in chronic lymphocytic leukemia

Domenica Ronchetti, Laura Mosca, Giovanna Cutrona, Giacomo Tuana, Massimo Gentile, Sonia Fabris, Luca Agnelli, Gabriella Ciceri, Serena Matis, Carlotta Massucco, Monica Colombo, Daniele Reverberi, Anna Recchia, Sabrina Bossio, Massimo Negrini, Pierfrancesco Tassone, Fortunato Morabito, Manlio Ferrarini, Antonino Neri BMC Medical Genomics 2013, 6:27 (3 September 2013)

Abstract | Full text | PDF | ePUB | PubMed

Research article   Open Access Highly Accessed

Microarray characterization of gene expression changes in blood during acute ethanol exposure

Doris M Kupfer, Vicky L White, David L Strayer, Dennis J Crouch, Dennis Burian BMC Medical Genomics 2013, 6:26 (25 July 2013)

Abstract | Full text | PDF | ePUB | PubMed

Research article   Open Access

Genetic lineages of undifferentiated-type gastric carcinomas analysed by unsupervised clustering of genomic DNA microarray data

Ayano Sonoda, Ken-ichi Mukaisho, Takahisa Nakayama, Vo Thi Diem, Takanori Hattori, Akira Andoh, Yoshihide Fujiyama, Hiroyuki Sugihara BMC Medical Genomics 2013, 6:25 (19 July 2013)

Abstract | Full text | PDF | ePUB | PubMed

Research article   Open Access

Validation of microarray data in human lymphoblasts shows a role of the ubiquitin-proteasome system and NF-kB in the pathogenesis of Down syndrome

Barbara Granese, Iris Scala, Carmen Spatuzza, Anna Valentino, Marcella Coletta, Rosa Vacca, Pasquale De Luca, Generoso Andria BMC Medical Genomics 2013, 6:24 (5 July 2013)

Abstract | Full text | PDF | PubMed

Research article   Open Access

Alteration of human blood cell transcriptome in uremia

Andreas Scherer, Oliver P Günther, Robert F Balshaw, Zsuzsanna Hollander, Janet Wilson-McManus, Raymond Ng, W McMaster, Bruce M McManus, Paul A Keown BMC Medical Genomics 2013, 6:23 (28 June 2013)

Abstract | Full text | PDF | ePUB | PubMed

Research article   Open Access

Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways

Cecilia Mancini, Paola Roncaglia, Alessandro Brussino, Giovanni Stevanin, Nicola Lo Buono, Helena Krmac, Francesca Maltecca, Elena Gazzano, Anna Bartoletti Stella, Maria Calvaruso, Luisa Iommarini, Claudia Cagnoli, Sylvie Forlani, Isabelle Le Ber, Alexandra Durr, Alexis Brice, Dario Ghigo, Giorgio Casari, Anna Porcelli, Ada Funaro, Giuseppe Gasparre, Stefano Gustincich, Alfredo Brusco BMC Medical Genomics 2013, 6:22 (18 June 2013)

Abstract | Full text | PDF | ePUB | PubMed

Research article   Open Access

Interplay between estrogen receptor and AKT in Estradiol-induced alternative splicing

Poornima Bhat-Nakshatri, Eun-Kyung Song, Nikail R Collins, Vladimir N Uversky, A Dunker, Bert W O’Malley, Tim R Geistlinger, Jason S Carroll, Myles Brown, Harikrishna Nakshatri BMC Medical Genomics 2013, 6:21 (11 June 2013)

Abstract | Full text | PDF | ePUB | PubMed

Research article   Open Access

Saliva sampling in global clinical studies: the impact of low sampling volume on performance of DNA in downstream genotyping experiments

David J Pulford, Michael Mosteller, J David Briley, Kelley W Johansson, Anita J Nelsen BMC Medical Genomics 2013, 6:20 (10 June 2013)

Abstract | Full text | PDF | ePUB | PubMed

Debate   Open Access Highly Accessed

Genotype-driven recruitment: a strategy whose time has come?

Isabelle Budin-Ljøsne, Kaitlin J Soye, Anne Tassé, Bartha Knoppers, Jennifer R Harris BMC Medical Genomics 2013, 6:19 (23 May 2013)

Abstract | Full text | PDF | ePUB | PubMed

Research article   Open Access

Cidofovir selectivity is based on the different response of normal and cancer cells to DNA damage

Tim De Schutter, Graciela Andrei, Dimitri Topalis, Lieve Naesens, Robert Snoeck BMC Medical Genomics 2013, 6:18 (23 May 2013)

Abstract | Full text | PDF | ePUB | PubMed

Research article   Open Access

A specific immune transcriptomic profile discriminates chronic kidney disease patients in predialysis from hemodialyzed patients

Gianluigi Zaza, Simona Granata, Federica Rascio, Paola Pontrelli, Maria Pia Dell’Oglio, Sharon Natasha Cox, Giovanni Pertosa, Giuseppe Grandaliano, Antonio Lupo BMC Medical Genomics 2013, 6:17 (10 May 2013)

Abstract | Full text | PDF | ePUB | PubMed |  Editor’s summary

Transcriptome profiles of patients undergoing haemodialysis show a different immune pattern compared to patients with chronic kidney disease without dialysis, although it cannot yet be ruled out that other confounding factors are responsible.

Research article   Open Access

Serum microRNAs profile from genome-wide serves as a fingerprint for diagnosis of acute myocardial infarction and angina pectoris

Chunjian Li, Zhijuan Fang, Ting Jiang, Qiu Zhang, Chao Liu, Chenyu Zhang, Yang Xiang BMC Medical Genomics 2013, 6:16 (4 May 2013)

Abstract | Full text | PDF | ePUB | PubMed

Research article   Open Access Highly Accessed

Genome-wide search for the genes accountable for the induced resistance to HIV-1 infection in activated CD4+ T cells: apparent transcriptional signatures, co-expression networks and possible cellular processes

Wen-Wen Xu, Miao-Jun Han, Dai Chen, Ling Chen, Yan Guo, Andrew Willden, Di-Qiu Liu, Hua-Tang Zhang BMC Medical Genomics 2013, 6:15 (1 May 2013)

Abstract | Full text | PDF | ePUB | PubMed |  Editor’s summary

Important regulatory genes associated with cell cycle functions and the actin cytoskeleton are potentially implicated with HIV-1 resistance in CD4+ T cells, elucidated using a co-expression network analysis.

Research article   Open Access

A comprehensive analysis of adiponectin QTLs using SNP association, SNP cis-effects on peripheral blood gene expression and gene expression correlation identified novel metabolic syndrome (MetS) genes with potential role in carcinogenesis and systemic inflammation

Yi Zhang, Jack W Kent, Michael Olivier, Omar Ali, Diana Cerjak, Ulrich Broeckel, Reham M Abdou, Thomas D Dyer, Anthony Comuzzie, Joanne E Curran, Melanie A Carless, David L Rainwater, Harald H H Göring, John Blangero, Ahmed H Kissebah BMC Medical Genomics 2013, 6:14 (29 April 2013)

Abstract | Full text | PDF | ePUB | PubMed

Research article   Open Access

Analysis of a gene co-expression network establishes robust association between Col5a2 and ischemic heart disease

Francisco Azuaje, Lu Zhang, Céline Jeanty, Sarah-Lena Puhl, Sophie Rodius, Daniel R Wagner BMC Medical Genomics 2013, 6:13 (10 April 2013)

Abstract | Full text | PDF | ePUB | PubMed

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