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Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect

Autor: Guo, Yiran, Menezes, Minal J., Menezes, Manoj P., Liang, Jinlong, Li, Dong, Riley, Lisa G., Clarke, Nigel F., Andrews, P. Ian, Tian, Lifeng, Webster, Richard, Wang, Fengxiang, Liu, Xuanzhu, Shen, Yulan, Thorburn, David R., Keating, Brendan J., Engel, Andrew, Hakonarson, Hakon, Christodoulou, John ^*, Xu, Xun

Publikováno v: In Neuromuscular Disorders March 2015 25(3):257-261

Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures

Autor: Cassatella, Daniele, Howard, Sasha R, Acierno, James S, Xu, Cheng, Papadakis, Georgios E, Santoni, Federico A, Dwyer, Andrew A, Santini, Sara, Sykiotis, Gerasimos P, Chambion, Caroline, Meylan, Jenny, Marino, Laura, Favre, Lucie, Li, Jiankang, Liu, Xuanzhu, Zhang, Jianguo, Bouloux, Pierre-Marc, De Geyter, Christian, De Paepe, Anne, Dhillo, Waljit S, Ferrara, Jean-Marc, Hauschild, Michael, Lang-Muritano, Mariarosaria, Lemke, Johannes R, Flück, Christa, Nemeth, Attila, Phan-Hug, Franziska, Pignatelli, Duarte, Popovic, Vera, Pekic, Sandra, Konrad, Daniel, et al

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______885::3f553930916b6024e3cc0b6a7c2b6d53
https://doi.org/10.5167/uzh-157982

Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis

Autor: Huijun Wang, Jinghua Yin, Jianguo Zhang, Xu Cao, Lanlan Dai, Liu Xuanzhu, Zhimiao Lin, Lina Duo, Jie Zhang, Jiahui Zhao, Yong Yang, Zhanli Tang

Publikováno v: Gene. 566:84-88

As a powerful tool to identify the molecular pathogenesis of Mendelian disorders, exome sequencing was used to identify the genetic basis of two siblings with hearing loss and hypotrichosis and clarify the diagnosis. No pathogenic mutations in GJB2,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::879657bd24366ddfb448f495cf944cb1
https://doi.org/10.1016/j.gene.2015.04.039

Exome sequencing and functional analysis identifies a novel mutation in EXT1 gene that causes multiple osteochondromas

Autor: Zeng-Tie Zhang, Jinlong Liang, Ling Yang, Xiong Guo, Yan Wen, Qiang Li, Feng Zhang, Liu Xuanzhu, Jun Wang, Dai Lanlan, Yin-gang Zhang, Weijuan Ma

Publikováno v: Zhang, F, Liang, J, Guo, X, Zhang, Y, Wen, Y, Li, Q, Zhang, Z, Ma, W, Dai, L, Liu, X, Yang, L & Wang, J 2013, ' Exome sequencing and functional analysis identifies a novel mutation in EXT1 gene that causes multiple osteochondromas ', P L o S One, vol. 8, no. 8, e72316 . https://doi.org/10.1371/journal.pone.0072316
PLoS ONE
PLoS ONE, Vol 8, Iss 8, p e72316 (2013)

Multiple osteochondromas (MO) is an inherited skeletal disorder, and the molecular mechanism of MO remains elusive. Exome sequencing has high chromosomal coverage and accuracy, and has recently been successfully used to identify pathogenic gene mutat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ea48d8273937c4802a41deb3f46f76b
https://curis.ku.dk/portal/da/publications/exome-sequencing-and-functional-analysis-identifies-a-novel-mutation-in-ext1gene-that-causes-multiple-osteochondromas(dc5301e7-552c-438e-8e0e-772cf8a79201).html