Pan H - Search Results

1

Functional Analyses of a Novel CITED2 Nonsynonymous Mutation in Chinese Tibetan Patients with Congenital Heart Disease.

Liu S, Su Z, Tan S, Ni B, Pan H, Liu B, Wang J, Xiao J, Chen Q. Liu S, et al. Among authors: pan h. Pediatr Cardiol. 2017 Aug;38(6):1226-1231. doi: 10.1007/s00246-017-1649-y. Epub 2017 Jul 8. Pediatr Cardiol. 2017. PMID: 28687891

2

Variations of CITED2 are associated with congenital heart disease (CHD) in Chinese population.

Liu Y, Wang F, Wu Y, Tan S, Wen Q, Wang J, Zhu X, Wang X, Li C, Ma X, Pan H. Liu Y, et al. Among authors: pan h. PLoS One. 2014 May 21;9(5):e98157. doi: 10.1371/journal.pone.0098157. eCollection 2014. PLoS One. 2014. PMID: 24848765 Free PMC article.

3

Mutations in EPAS1 in congenital heart disease in Tibetans.

Pan H, Chen Q, Qi S, Li T, Liu B, Liu S, Ma X, Wang B. Pan H, et al. Biosci Rep. 2018 Dec 18;38(6):BSR20181389. doi: 10.1042/BSR20181389. Print 2018 Dec 21. Biosci Rep. 2018. PMID: 30487161 Free PMC article.

4

Functional Analysis of Two Novel Mutations in TWIST1 Protein Motifs Found in Ventricular Septal Defect Patients.

Deng X, Pan H, Wang J, Wang B, Cheng Z, Cheng L, Zhao L, Li H, Ma X. Deng X, et al. Among authors: pan h. Pediatr Cardiol. 2015 Dec;36(8):1602-9. doi: 10.1007/s00246-015-1202-9. Epub 2015 May 19. Pediatr Cardiol. 2015. PMID: 25981568

5

Identification of LBX2 as a novel causal gene of atrial septal defect.

Wang J, Luo J, Chen Q, Wang X, He J, Zhang W, Yin Z, Zheng F, Pan H, Li T, Lou Q, Wang B. Wang J, et al. Among authors: pan h. Int J Cardiol. 2018 Aug 15;265:188-194. doi: 10.1016/j.ijcard.2018.04.038. Epub 2018 Apr 11. Int J Cardiol. 2018. PMID: 29669692

6

Novel mutation in SP2 in a Chinese pedigree with Neural tube defects.

Liu BH, Wang J, Li CM, Qi L, Song YH, Pan H, Li TY, Wang BB. Liu BH, et al. Among authors: pan h. CNS Neurosci Ther. 2018 Oct;24(10):978-980. doi: 10.1111/cns.12988. Epub 2018 May 31. CNS Neurosci Ther. 2018. PMID: 29855149 Free PMC article. No abstract available.

7

Novel missense mutation in PTPN22 in a Chinese pedigree with Hashimoto's thyroiditis.

Gong L, Liu B, Wang J, Pan H, Qi A, Zhang S, Wu J, Yang P, Wang B. Gong L, et al. Among authors: pan h. BMC Endocr Disord. 2018 Nov 1;18(1):76. doi: 10.1186/s12902-018-0305-8. BMC Endocr Disord. 2018. PMID: 30384852 Free PMC article.

8

A novel CRX frameshift mutation causing cone-rod dystrophy in a Chinese family: A case report.

Wang L, Qi A, Pan H, Liu B, Feng J, Chen W, Wang B. Wang L, et al. Among authors: pan h. Medicine (Baltimore). 2018 Aug;97(32):e11499. doi: 10.1097/MD.0000000000011499. Medicine (Baltimore). 2018. PMID: 30095615 Free PMC article.

9

TNFRSF21 mutations cause high myopia.

Pan H, Wu S, Wang J, Zhu T, Li T, Wan B, Liu B, Luo Y, Ma X, Sui R, Wang B. Pan H, et al. J Med Genet. 2019 Oct;56(10):671-677. doi: 10.1136/jmedgenet-2018-105684. Epub 2019 Jun 12. J Med Genet. 2019. PMID: 31189563

10

Two novel mutations of the IRX4 gene in patients with congenital heart disease.

Cheng Z, Wang J, Su D, Pan H, Huang G, Li X, Li Z, Shen A, Xie X, Wang B, Ma X. Cheng Z, et al. Among authors: pan h. Hum Genet. 2011 Nov;130(5):657-62. doi: 10.1007/s00439-011-0996-7. Epub 2011 May 5. Hum Genet. 2011. PMID: 21544582

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