Vyzkoušejte nový nástroj s podporou AI
Summon Research Assistant
BETA
Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension
Lu, Xiangfeng, Wang, Laiyuan, Lin, Xu, Huang, Jianfeng, Charles Gu, C., He, Meian, Shen, Hongbing, He, Jiang, Zhu, Jingwen, Li, Huaixing, Hixson, James E., Wu, Tangchun, Dai, Juncheng, Lu, Ling, Shen, Chong, Chen, Shufeng, He, Lin, Mo, Zengnan, Hao, Yongchen, Mo, Xingbo, Yang, Xueli, Li, Jianxin, Cao, Jie, Chen, Jichun, Fan, Zhongjie, Li, Ying, Zhao, Liancheng, Li, Hongfan, Lu, Fanghong, Yao, Cailiang, Yu, Lin, Xu, Lihua, Mu, Jianjun, Wu, Xianping, Deng, Ying, Hu, Dongsheng, Zhang, Weidong, Ji, Xu, Guo, Dongshuang, Guo, Zhirong, Zhou, Zhengyuan, Yang, Zili, Wang, Renping, Yang, Jun, Zhou, Xiaoyang, Yan, Weili, Sun, Ningling, Gao, Pingjin, Gu, Dongfeng
Published in Human molecular genetics (01.02.2015)
Published in Human molecular genetics (01.02.2015)
Get full text
Journal Article
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder
Calpena, Eduardo, Hervieu, Alexia, Kaserer, Teresa, Swagemakers, Sigrid M.A., Goos, Jacqueline A.C., Popoola, Olajumoke, Ortiz-Ruiz, Maria Jesus, Barbaro-Dieber, Tina, Bownass, Lucy, Brilstra, Eva H., Brimble, Elise, Foulds, Nicola, Grebe, Theresa A., Harder, Aster V.E., Lees, Melissa M., Monaghan, Kristin G., Newbury-Ecob, Ruth A., Ong, Kai-Ren, Osio, Deborah, Reynoso Santos, Francis Jeshira, Ruzhnikov, Maura R.Z., Telegrafi, Aida, van Binsbergen, Ellen, van Dooren, Marieke F., van der Spek, Peter J., Blagg, Julian, Twigg, Stephen R.F., Mathijssen, Irene M.J., Clarke, Paul A., Wilkie, Andrew O.M.
Published in American journal of human genetics (04.04.2019)
Published in American journal of human genetics (04.04.2019)
Get full text
Journal Article
DNA hypermethylation of MED1 and MED23 as early diagnostic biomarkers for unsolved issues in atrial fibrillation
Schiano, Concetta, Infante, Teresa, Benincasa, Giuditta, Burrello, Jacopo, Ruocco, Antonio, Mauro, Ciro, Pepin, Mark E., Donatelli, Francesco, Maiello, Ciro, Coscioni, Enrico, Napoli, Claudio
Published in International journal of cardiology (15.06.2025)
Published in International journal of cardiology (15.06.2025)
Get full text
Journal Article
Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network
Crosslin, David R., McDavid, Andrew, Weston, Noah, Nelson, Sarah C., Zheng, Xiuwen, Hart, Eugene, de Andrade, Mariza, Kullo, Iftikhar J., McCarty, Catherine A., Doheny, Kimberly F., Pugh, Elizabeth, Kho, Abel, Hayes, M. Geoffrey, Pretel, Stephanie, Saip, Alexander, Ritchie, Marylyn D., Crawford, Dana C., Crane, Paul K., Newton, Katherine, Li, Rongling, Mirel, Daniel B., Crenshaw, Andrew, Larson, Eric B., Carlson, Chris S., Jarvik, Gail P.
Published in Human genetics (01.04.2012)
Published in Human genetics (01.04.2012)
Get full text
Journal Article
MED12 exon 2 mutations in uterine and extrauterine smooth muscle tumors
Schwetye, Katherine E., Pfeifer, John D., Duncavage, Eric J.
Published in Human pathology (01.01.2014)
Published in Human pathology (01.01.2014)
Get full text
Journal Article
MEGSA: A Powerful and Flexible Framework for Analyzing Mutual Exclusivity of Tumor Mutations
Hua, Xing, Hyland, Paula L., Huang, Jing, Song, Lei, Zhu, Bin, Caporaso, Neil E., Landi, Maria Teresa, Chatterjee, Nilanjan, Shi, Jianxin
Published in American journal of human genetics (03.03.2016)
Published in American journal of human genetics (03.03.2016)
Get full text
Journal Article
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome
Cafiero, Concetta, Marangi, Giuseppe, Orteschi, Daniela, Ali, Marwan, Asaro, Alessia, Ponzi, Emanuela, Moncada, Alice, Ricciardi, Stefania, Murdolo, Marina, Mancano, Giorgia, Contaldo, Ilaria, Leuzzi, Vincenzo, Battaglia, Domenica, Mercuri, Eugenio, Slavotinek, Anne M, Zollino, Marcella
Published in European journal of human genetics : EJHG (01.11.2015)
Published in European journal of human genetics : EJHG (01.11.2015)
Get full text
Journal Article
The polynucleotide kinase 3′-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25
Leal, Alejandro, Bogantes-Ledezma, Sixto, Ekici, Arif B., Uebe, Steffen, Thiel, Christian T., Sticht, Heinrich, Berghoff, Martin, Berghoff, Corinna, Morera, Bernal, Meisterernst, Michael, Reis, André
Published in Neurogenetics (01.12.2018)
Published in Neurogenetics (01.12.2018)
Get full text
Journal Article