Shi Z - Search Results

1

De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.

Fan Y, Yin W, Hu B, Kline AD, Zhang VW, Liang D, Sun Y, Wang L, Tang S, Powis Z, Li L, Yan H, Shi Z, Yang X, Chen Y, Wang J, Jiang Y, Tan H, Gu X, Wu L, Yu Y. Fan Y, et al. Among authors: shi z. Am J Hum Genet. 2018 Sep 6;103(3):448-455. doi: 10.1016/j.ajhg.2018.07.019. Epub 2018 Aug 16. Am J Hum Genet. 2018. PMID: 30122539 Free PMC article.

2

Identification of Novel ARSA Mutations in Chinese Patients with Metachromatic Leukodystrophy.

Chen L, Yan H, Cao B, Wu Y, Gu Q, Xiao J, Yang Y, Yang H, Shi Z, Yang Z, Pan H, Chang X, Chen J, Sun Y, Zhang Y, Wu X, Jiang Y, Wang J. Chen L, et al. Among authors: shi z. Int J Genomics. 2018 Jul 3;2018:2361068. doi: 10.1155/2018/2361068. eCollection 2018. Int J Genomics. 2018. PMID: 30057904 Free PMC article.

3

A Chinese pedigree with Brown-Vialetto-Van Laere syndrome due to two novel mutations of SLC52A2 gene: clinical course and response to riboflavin.

Shi K, Shi Z, Yan H, Wang X, Yang Y, Xiong H, Gu Q, Wu Y, Jiang Y, Wang J. Shi K, et al. Among authors: shi z. BMC Med Genet. 2019 May 7;20(1):76. doi: 10.1186/s12881-019-0811-1. BMC Med Genet. 2019. PMID: 31064337 Free PMC article.

4

Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene.

Yan H, Shi Z, Wu Y, Xiao J, Gu Q, Yang Y, Li M, Gao K, Chen Y, Yang X, Ji H, Cao B, Duan R, Jiang Y, Wang J. Yan H, et al. Among authors: shi z. BMC Med Genet. 2019 May 14;20(1):80. doi: 10.1186/s12881-019-0794-y. BMC Med Genet. 2019. PMID: 31088393 Free PMC article.

5

Identification in Chinese patients with GLIALCAM mutations of megalencephalic leukoencephalopathy with subcortical cysts and brain pathological study on Glialcam knock-in mouse models.

Shi Z, Yan HF, Cao BB, Guo MM, Xie H, Gao K, Xiao JX, Yang YL, Xiong H, Gu Q, Li M, Wu Y, Jiang YW, Wang JM. Shi Z, et al. World J Pediatr. 2019 Oct;15(5):454-464. doi: 10.1007/s12519-019-00284-w. Epub 2019 Aug 1. World J Pediatr. 2019. PMID: 31372844 Free PMC article.

6

Epilepsy in children with leukodystrophies.

Zhang J, Ban T, Zhou L, Ji H, Yan H, Shi Z, Cao B, Jiang Y, Wang J, Wu Y. Zhang J, et al. Among authors: shi z. J Neurol. 2020 Sep;267(9):2612-2618. doi: 10.1007/s00415-020-09889-y. Epub 2020 May 9. J Neurol. 2020. PMID: 32388833

7

Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing.

Yan H, Ji H, Kubisiak T, Wu Y, Xiao J, Gu Q, Yang Y, Xie H, Ji T, Gao K, Li D, Xiong H, Shi Z, Li M, Zhang Y, Duan R, Bao X, Jiang Y, Burmeister M, Wang J. Yan H, et al. Among authors: shi z. J Hum Genet. 2021 Aug;66(8):761-768. doi: 10.1038/s10038-020-00896-5. Epub 2021 Feb 18. J Hum Genet. 2021. PMID: 33597727 Free PMC article.

8

Maternal Overweight and Obesity during Pregnancy Are Associated with Neonatal, but Not Maternal, Hepcidin Concentrations.

Jones AD, Shi Z, Lambrecht NJ, Jiang Y, Wang J, Burmeister M, Li M, Lozoff B. Jones AD, et al. Among authors: shi z. J Nutr. 2021 Aug 7;151(8):2296-2304. doi: 10.1093/jn/nxab133. J Nutr. 2021. PMID: 33979838 Free PMC article. Clinical Trial.

9

[Clinical and genetic analysis of a child with Mental retardation autosomal dominant 51].

Tang Y, Li X, Wu W, Shi Z, Chen W, Tian Y. Tang Y, et al. Among authors: shi z. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Jun 10;40(6):696-700. doi: 10.3760/cma.j.cn511374-20220720-00478. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 37212005 Chinese.

10

Generation of an induced pluripotent stem cell line GWCMCi006-A from a patient with autosomal dominant neurodevelopmental disorder with or without hyperkinetic movements and seizures harboring GRIN1 c.389A > G mutation.

Shi Z, Liu H, Feng F, Huang Z, Chen WX. Shi Z, et al. Stem Cell Res. 2024 Apr;76:103371. doi: 10.1016/j.scr.2024.103371. Epub 2024 Feb 29. Stem Cell Res. 2024. PMID: 38452705 Free article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

12,454 results

Search Page

Filters