Xie H - Search Results

1

Mucopolysaccharidosis IIIB and mild skeletal anomalies: coexistence of NAGLU and CYP26B1 missense variations in the same patient in a Chinese family.

Li J, Xie H, Jiang Y. Li J, et al. Among authors: xie h. BMC Med Genet. 2018 Apr 2;19(1):51. doi: 10.1186/s12881-018-0562-4. BMC Med Genet. 2018. PMID: 29606097 Free PMC article.

2

NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy.

Jiang Y, Zhang Y, Zhang P, Sang T, Zhang F, Ji T, Huang Q, Xie H, Du R, Cai B, Zhao H, Wang J, Wu Y, Wu H, Xu K, Liu X, Chan P, Wu X. Jiang Y, et al. Among authors: xie h. Hum Genet. 2012 Jul;131(7):1217-24. doi: 10.1007/s00439-012-1149-3. Epub 2012 Feb 26. Hum Genet. 2012. PMID: 22367439

3

Functional studies of MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts.

Xie H, Wang J, Dhaunchak AS, Shang J, Kou L, Guo M, Wu Y, Gu Q, Colman D, Wu X, Jiang Y. Xie H, et al. PLoS One. 2012;7(3):e33087. doi: 10.1371/journal.pone.0033087. Epub 2012 Mar 5. PLoS One. 2012. PMID: 22416245 Free PMC article.

4

[Analysis of HEPACAM mutations in a Chinese family with megalencephalic leukoencephalopathy with subcortical cysts].

Guo MM, Jiang YW, Xie H, Wu Y, Shang J, Gu Q, Wu XR, Wang JM. Guo MM, et al. Among authors: xie h. Zhonghua Er Ke Za Zhi. 2012 Dec;50(12):895-8. Zhonghua Er Ke Za Zhi. 2012. PMID: 23324143 Chinese.

5

[Advance in genetic study for idiopathic generalized epilepsy].

Jiang YW, Xie H. Jiang YW, et al. Among authors: xie h. Beijing Da Xue Xue Bao Yi Xue Ban. 2013 Apr 18;45(2):186-91. Beijing Da Xue Xue Bao Yi Xue Ban. 2013. PMID: 23591334 Free article. Chinese.

6

NIPA2 mutations are correlative with childhood absence epilepsy in the Han Chinese population.

Jiang Y, Zhang Y, Zhang P, Zhang F, Xie H, Chan P, Wu X. Jiang Y, et al. Among authors: xie h. Hum Genet. 2014 May;133(5):675-6. doi: 10.1007/s00439-014-1428-2. Epub 2014 Feb 6. Hum Genet. 2014. PMID: 24500577 No abstract available.

7

Functional study of NIPA2 mutations identified from the patients with childhood absence epilepsy.

Xie H, Zhang Y, Zhang P, Wang J, Wu Y, Wu X, Netoff T, Jiang Y. Xie H, et al. PLoS One. 2014 Oct 27;9(10):e109749. doi: 10.1371/journal.pone.0109749. eCollection 2014. PLoS One. 2014. PMID: 25347071 Free PMC article.

8

Identification and functional study of novel PLP1 mutations in Chinese patients with Pelizaeus-Merzbacher disease.

Xie H, Feng H, Ji J, Wu Y, Kou L, Li D, Ji H, Wu X, Niu Z, Wang J, Jiang Y. Xie H, et al. Brain Dev. 2015 Sep;37(8):797-802. doi: 10.1016/j.braindev.2014.11.007. Epub 2014 Dec 6. Brain Dev. 2015. PMID: 25491635

9

[Reasonable use of new technology to detect genetic disease, improve the level of diagnosis and treatment of pediatric nervous system diseases].

Jiang Y, Xie H. Jiang Y, et al. Among authors: xie h. Zhonghua Er Ke Za Zhi. 2014 Nov;52(11):801-3. Zhonghua Er Ke Za Zhi. 2014. PMID: 25582461 Chinese. No abstract available.

10

SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.

Kong W, Zhang Y, Gao Y, Liu X, Gao K, Xie H, Wang J, Wu Y, Zhang Y, Wu X, Jiang Y. Kong W, et al. Among authors: xie h. Epilepsia. 2015 Mar;56(3):431-8. doi: 10.1111/epi.12925. Epub 2015 Feb 26. Epilepsia. 2015. PMID: 25785782 Free article.

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