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Genomic Testing in Adults With Undiagnosed Rare Conditions: Improvement of Diagnosis Using Clinical Exome Sequencing as a First‐Tier Approach
Petillo, Roberta, De Maggio, Ilaria, Piscopo, Carmelo, Chetta, Massimiliano, Tarsitano, Marina, Chiriatti, Luigi, Sannino, Elvira, Torre, Serena, D'Antonio, Marcella, D'Ambrosio, Paola, Rambaldi, Marco, Cioce, Maria, De Stefano, Valentina, Parisi, Maria Rita, Telese, Antonella, Oro, Maria, Rivieccio, Maria, Radio, Francesca Clementina, Mancini, Cecilia, Niceta, Marcello, Cordeddu, Viviana, Bruselles, Alessandro, Mammì, Corrado, Dattola, Adele, Fioretti, Tiziana, Esposito, Gabriella, Novelli, Antonio, Tessitore, Alessandro, Tessa, Alessandra, Santorelli, Filippo Maria, Iolascon, Achille, Monica, Matteo Della, Tartaglia, Marco, Priolo, Manuela
Published in Clinical genetics (01.08.2025)
Published in Clinical genetics (01.08.2025)
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Autism-Associated Gene Expression in Peripheral Leucocytes Commonly Observed between Subjects with Autism and Healthy Women Having Autistic Children
Kuwano, Yuki, Kamio, Yoko, Kawai, Tomoko, Katsuura, Sakurako, Inada, Naoko, Takaki, Akiko, Rokutan, Kazuhito
Published in PloS one (15.09.2011)
Published in PloS one (15.09.2011)
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Selective decline of neurotrophin and neurotrophin receptor genes within CA1 pyramidal neurons and hippocampus proper: Correlation with cognitive performance and neuropathology in mild cognitive impairment and Alzheimer's disease
Ginsberg, Stephen D., Malek‐Ahmadi, Michael H., Alldred, Melissa J., Che, Shaoli, Elarova, Irina, Chen, Yinghua, Jeanneteau, Freddy, Kranz, Thorsten M., Chao, Moses V, Counts, Scott E., Mufson, Elliott J.
Published in Hippocampus (01.05.2019)
Published in Hippocampus (01.05.2019)
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Genome-wide Characterization of miR-34a Induced Changes in Protein and mRNA Expression by a Combined Pulsed SILAC and Microarray Analysis
Kaller, Markus, Liffers, Sven-Thorsten, Oeljeklaus, Silke, Kuhlmann, Katja, Röh, Simone, Hoffmann, Reinhard, Warscheid, Bettina, Hermeking, Heiko
Published in Molecular & cellular proteomics (01.08.2011)
Published in Molecular & cellular proteomics (01.08.2011)
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Sepsis gene expression profiling: murine splenic compared with hepatic responses determined by using complementary DNA microarrays
Cobb, J Perren, Laramie, Jason M, Stormo, Gary D, Morrissey, Jerry J, Shannon, William D, Qiu, Yuyu, Karl, Irene E, Buchman, Timothy G, Hotchkiss, Richard S
Published in Critical care medicine (01.12.2002)
Published in Critical care medicine (01.12.2002)
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Integrated microRNA and mRNA gene expression in peripheral blood mononuclear cells in response to acute psychosocial stress: a repeated-measures within-subject pilot study
Jurkiewicz, Magdalena Maria, Mueller-Alcazar, Anett, Moser, Dirk Alexander, Jayatilaka, Indralatha, Mikhailik, Anatoly, Ferri, Jamie, Fogelman, Nia, Canli, Turhan
Published in BMC research notes (03.06.2021)
Published in BMC research notes (03.06.2021)
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Longitudinal whole blood transcriptomic analysis characterizes neutrophil activation and interferon signaling in moderate and severe COVID-19
Prebensen, Christian, Lefol, Yohan, Myhre, Peder L., Lüders, Torben, Jonassen, Christine, Blomfeldt, Anita, Omland, Torbjørn, Nilsen, Hilde, Berdal, Jan-Erik
Published in Scientific reports (26.06.2023)
Published in Scientific reports (26.06.2023)
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A Novel Framework for the Design of Minimized Epigenetic Clocks Using the Analysis of DNA Methylation Heterogeneity
Romanov, Stanislav E., Karetnikov, Dmitry I., Kalashnikova, Darya A., Polivcev, Denis E., Osipov, Yakov A., Maksimov, Daniil A., Antoshina, Polina A., Shloma, Viktor V., Samoilova, Ekaterina M., Ivanova, Alina A., Karimov, Rustam F., Tkalin, Artem N., Shevchenko, Alexander A., Kalsin, Vladimir A., Baklaushev, Vladimir P., Laktionov, Petr P.
Published in International journal of molecular sciences (23.05.2025)
Published in International journal of molecular sciences (23.05.2025)
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Meta-Analysis Derived (MAD) Transcriptome of Psoriasis Defines the “Core” Pathogenesis of Disease
Tian, Suyan, Krueger, James G., Li, Katherine, Jabbari, Ali, Brodmerkel, Carrie, Lowes, Michelle A., Suárez-Fariñas, Mayte
Published in PloS one (05.09.2012)
Published in PloS one (05.09.2012)
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Global Brain Gene Expression Analysis Links Glutamatergic and GABAergic Alterations to Suicide and Major Depression
Sequeira, Adolfo, Mamdani, Firoza, Ernst, Carl, Vawter, Marquis P., Bunney, William E., Lebel, Veronique, Rehal, Sonia, Klempan, Tim, Gratton, Alain, Benkelfat, Chawki, Rouleau, Guy A., Mechawar, Naguib, Turecki, Gustavo
Published in PloS one (11.08.2009)
Published in PloS one (11.08.2009)
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Sleep disturbances in Phelan‐McDermid syndrome: Clinical and metabolic profiling of 56 individuals
Moffitt, Bridgette A., Oberman, Lindsay M., Beamer, Laura, Srikanth, Sujata, Jain, Lavanya, Cascio, Lauren, Jones, Kelly, Pauly, Rini, May, Melanie, Skinner, Cindy, Buchanan, Caroline, DuPont, Barbara R., Kaufmann, Walter E., Valentine, Kathleen, Ward, Linda D., Ivankovic, Diana, Rogers, R. Curtis, Phelan, Katy, Sarasua, Sara M., Boccuto, Luigi
Published in Clinical genetics (01.08.2023)
Published in Clinical genetics (01.08.2023)
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The Association between the Differential Expression of lncRNA and Type 2 Diabetes Mellitus in People with Hypertriglyceridemia
Yan, Shoumeng, Yao, Nan, Li, Xiaotong, Sun, Mengzi, Yang, Yixue, Cui, Weiwei, Li, Bo
Published in International journal of molecular sciences (21.02.2023)
Published in International journal of molecular sciences (21.02.2023)
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Transcriptome signatures reveal candidate key genes in the whole blood of patients with lumbar disc prolapse
Wang, Yi, Dai, Guogang, Li, Lengtao, Liu, Lijuan, Jiang, Ling, Li, Shengwu, Liao, Shichuan, Wang, Feng, Du, Wanli, Li, Yuewen
Published in Experimental and therapeutic medicine (01.12.2019)
Published in Experimental and therapeutic medicine (01.12.2019)
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High S100A2 expression in keratinocytes in patients with drug eruption
Yoshioka, Manabu, Sawada, Yu, Saito-Sasaki, Natsuko, Yoshioka, Haruna, Hama, Kayo, Omoto, Daisuke, Ohmori, Shun, Okada, Etsuko, Nakamura, Motonobu
Published in Scientific reports (09.03.2021)
Published in Scientific reports (09.03.2021)
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Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome
Kim, Dohyung, Yoon, Ji-Hee, Bae, Hyunwoo, Hwang, Soojin, Seo, Go Hun, Koh, June-Young, Ju, Young Seok, Do, Hyo-Sang, Kim, Soyoung, Choi, In Hee, Kim, Gu-Hwan, Kim, Ja Hye, Choi, Jin-Ho, Lee, Beom Hee
Published in Journal of human genetics (01.05.2025)
Published in Journal of human genetics (01.05.2025)
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Faecal Metaproteomic Analysis Reveals a Personalized and Stable Functional Microbiome and Limited Effects of a Probiotic Intervention in Adults
Kolmeder, Carolin A., Salojärvi, Jarkko, Ritari, Jarmo, de Been, Mark, Raes, Jeroen, Falony, Gwen, Vieira-Silva, Sara, Kekkonen, Riina A., Corthals, Garry L., Palva, Airi, Salonen, Anne, de Vos, Willem M.
Published in PloS one (12.04.2016)
Published in PloS one (12.04.2016)
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Systematic evaluation of DNA methylation age estimation with common preprocessing methods and the Infinium MethylationEPIC BeadChip array
McEwen, Lisa M, Jones, Meaghan J, Lin, David Tse Shen, Edgar, Rachel D, Husquin, Lucas T, MacIsaac, Julia L, Ramadori, Katia E, Morin, Alexander M, Rider, Christopher F, Carlsten, Chris, Quintana-Murci, Lluís, Horvath, Steve, Kobor, Michael S
Published in Clinical epigenetics (16.10.2018)
Published in Clinical epigenetics (16.10.2018)
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Epigenetic Regulation of Processes Related to High Level of Fibroblast Growth Factor 21 in Obese Subjects
Płatek, Teresa, Polus, Anna, Góralska, Joanna, Raźny, Urszula, Dziewońska, Agnieszka, Micek, Agnieszka, Dembińska-Kieć, Aldona, Solnica, Bogdan, Malczewska-Malec, Małgorzata
Published in Genes (21.02.2021)
Published in Genes (21.02.2021)
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Multimodal analysis of gene expression from postmortem brains and blood identifies synaptic vesicle trafficking genes to be associated with Parkinson’s disease
Gao, Xiaoya, Huang, Zifeng, Feng, Cailing, Guan, Chaohao, Li, Ruidong, Xie, Haiting, Chen, Jian, Li, Mingchun, Que, Rongfang, Deng, Bin, Cao, Peihua, Li, Mengyan, Lu, Jianjun, Huang, Yihong, Li, Minzi, Yang, Weihong, Yang, Xiaohua, Wen, Chunyan, Liang, Xiaomei, Yang, Qin, Chao, Yin-Xia, Chan, Ling-Ling, Yenari, Midori A, Jin, Kunlin, Chaudhuri, K Ray, Zhang, Jing, Tan, Eng-King, Wang, Qing
Published in Briefings in bioinformatics (01.07.2021)
Published in Briefings in bioinformatics (01.07.2021)
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