Xie H - Search Results

1

Possible Catch-Up Developmental Trajectories for Children with Mild Developmental Delay Caused by NAA15 Pathogenic Variants.

Tian Y, Xie H, Yang S, Shangguan S, Wang J, Jin C, Zhang Y, Cui X, Lyu Y, Chen X, Wang L. Tian Y, et al. Among authors: xie h. Genes (Basel). 2022 Mar 18;13(3):536. doi: 10.3390/genes13030536. Genes (Basel). 2022. PMID: 35328089 Free PMC article. Review.

2

Detection of copy number variants reveals association of cilia genes with neural tube defects.

Chen X, Shen Y, Gao Y, Zhao H, Sheng X, Zou J, Lip V, Xie H, Guo J, Shao H, Bao Y, Shen J, Niu B, Gusella JF, Wu BL, Zhang T. Chen X, et al. Among authors: xie h. PLoS One. 2013;8(1):e54492. doi: 10.1371/journal.pone.0054492. Epub 2013 Jan 17. PLoS One. 2013. PMID: 23349908 Free PMC article.

3

PCMT1 gene polymorphisms, maternal folate metabolism, and neural tube defects: a case-control study in a population with relatively low folate intake.

Wang F, Wang J, Guo J, Chen X, Guan Z, Zhao H, Xie H, Liu C, Bao Y, Zou J, Niu B, Zhang T. Wang F, et al. Among authors: xie h. Genes Nutr. 2013 Nov;8(6):581-7. doi: 10.1007/s12263-013-0355-5. Epub 2013 Aug 6. Genes Nutr. 2013. PMID: 23918616 Free PMC article.

4

Fragile X syndrome screening in Chinese children with unknown intellectual developmental disorder.

Chen X, Wang J, Xie H, Zhou W, Wu Y, Wang J, Qin J, Guo J, Gu Q, Zhang X, Ji T, Zhang Y, Xiong Z, Wang L, Wu X, Latham GJ, Jiang Y. Chen X, et al. Among authors: xie h. BMC Pediatr. 2015 Jul 15;15:77. doi: 10.1186/s12887-015-0394-8. BMC Pediatr. 2015. PMID: 26174701 Free PMC article.

5

Annular pancreas in Trichorhinophalangeal syndrome type II with 8q23.3-q24.12 interstitial deletion.

Li Q, Zhang Z, Yan Y, Xiao P, Gao Z, Cheng W, Su L, Yu K, Xie H, Chen X, Jiang Q, Li L. Li Q, et al. Among authors: xie h. Mol Cytogenet. 2015 Dec 15;8:95. doi: 10.1186/s13039-015-0201-0. eCollection 2015. Mol Cytogenet. 2015. PMID: 26673557 Free PMC article.

6

[The pathogenicity of somatic mutation to common tumors and developmental malformation of the nervous system].

Liu F, Song X, Xie H, Chen XL. Liu F, et al. Among authors: xie h. Yi Chuan. 2016 Mar;38(3):196-205. doi: 10.16288/j.yczz.15-400. Yi Chuan. 2016. PMID: 27001474 Review. Chinese.

7

Rare Deleterious PARD3 Variants in the aPKC-Binding Region are Implicated in the Pathogenesis of Human Cranial Neural Tube Defects Via Disrupting Apical Tight Junction Formation.

Chen X, An Y, Gao Y, Guo L, Rui L, Xie H, Sun M, Lam Hung S, Sheng X, Zou J, Bao Y, Guan H, Niu B, Li Z, Finnell RH, Gusella JF, Wu BL, Zhang T. Chen X, et al. Among authors: xie h. Hum Mutat. 2017 Apr;38(4):378-389. doi: 10.1002/humu.23153. Epub 2017 Feb 15. Hum Mutat. 2017. PMID: 27925688 Free PMC article.

8

A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome.

Xie H, Li X, Peng J, Chen Q, Gao Z, Song X, Li W, Xiao J, Li C, Zhang T, Gusella JF, Zhong J, Chen X. Xie H, et al. Sci Rep. 2017 Mar 23;7:44271. doi: 10.1038/srep44271. Sci Rep. 2017. PMID: 28333167 Free PMC article.

9

The pathogenicity of genomic/genetic variant of X-chromosomal genes in males with intellectual disability.

Peng JP, Liu F, Xie H, Chen XL. Peng JP, et al. Among authors: xie h. Yi Chuan. 2017 Jun 20;39(6):455-468. doi: 10.16288/j.yczz.16-407. Yi Chuan. 2017. PMID: 28903905 Review.

10

Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family.

Li X, Xie H, Chen Q, Yu X, Yi Z, Li E, Zhang T, Wang J, Zhong J, Chen X. Li X, et al. Among authors: xie h. BMC Med Genet. 2017 Nov 15;18(1):131. doi: 10.1186/s12881-017-0486-4. BMC Med Genet. 2017. PMID: 29141583 Free PMC article.

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