Huang H - Search Results

1

Linking APOE4/4 genotype to microglial lipid droplets and neurotoxicity in Alzheimer's disease.

Huang H, Xiang R, Yan R. Huang H, et al. Transl Neurodegener. 2024 Jul 30;13(1):38. doi: 10.1186/s40035-024-00433-w. Transl Neurodegener. 2024. PMID: 39080732 Free PMC article. No abstract available.

2

A novel mutation of GATA4 (K319E) is responsible for familial atrial septal defect and pulmonary valve stenosis.

Xiang R, Fan LL, Huang H, Cao BB, Li XP, Peng DQ, Xia K. Xiang R, et al. Among authors: huang h. Gene. 2014 Jan 25;534(2):320-3. Gene. 2014. PMID: 24498650

3

A Novel Mutation of FOXC1 (R127L) in an Axenfeld-Rieger Syndrome Family with Glaucoma and Multiple Congenital Heart Diseases.

Du RF, Huang H, Fan LL, Li XP, Xia K, Xiang R. Du RF, et al. Among authors: huang h. Ophthalmic Genet. 2016;37(1):111-5. doi: 10.3109/13816810.2014.924016. Epub 2014 Jun 10. Ophthalmic Genet. 2016. PMID: 24914578 No abstract available.

4

Novel mutations of low-density lipoprotein receptor gene in China patients with familial hypercholesterolemia.

Fan LL, Lin MJ, Chen YQ, Huang H, Peng DQ, Xia K, Zhao SP, Xiang R. Fan LL, et al. Among authors: huang h. Appl Biochem Biotechnol. 2015 May;176(1):101-9. doi: 10.1007/s12010-015-1554-x. Epub 2015 Apr 7. Appl Biochem Biotechnol. 2015. PMID: 25846081 Clinical Trial.

5

[Progress in genetic research on pachydermoperiostosis].

Du R, Fan L, Huang H, Xiang R. Du R, et al. Among authors: huang h. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Feb;33(1):105-7. doi: 10.3760/cma.j.issn.1003-9406.2016.01.025. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016. PMID: 26829746 Review. Chinese.

6

Whole-exome sequencing identifies a novel mutation of DSG2 (Y198C) in a Chinese arrhythmogenic right ventricular cardiomyopathy patient.

Xiang R, Fan LL, Huang H, Zhao SP, Chen YQ. Xiang R, et al. Among authors: huang h. Int J Cardiol. 2016 Jul 1;214:1-3. doi: 10.1016/j.ijcard.2016.03.136. Epub 2016 Mar 26. Int J Cardiol. 2016. PMID: 27055156 No abstract available.

7

Whole-Exome Sequencing Identifies Two Novel TTN Mutations in Chinese Families with Dilated Cardiomyopathy.

Liu JS, Fan LL, Zhang H, Liu X, Huang H, Tao LJ, Xia K, Xiang R. Liu JS, et al. Among authors: huang h. Cardiology. 2017;136(1):10-14. doi: 10.1159/000447422. Epub 2016 Aug 20. Cardiology. 2017. PMID: 27544385

8

Mutation detection in Chinese patients with familial hypercholesterolemia.

Du R, Fan LL, Lin MJ, He ZJ, Huang H, Chen YQ, Li JJ, Xia K, Zhao SP, Xiang R. Du R, et al. Among authors: huang h. Springerplus. 2016 Dec 12;5(1):2095. doi: 10.1186/s40064-016-3763-3. eCollection 2016. Springerplus. 2016. PMID: 28028493 Free PMC article.

9

A novel splice-site mutation of WRN (c.IVS28+2T>C) identified in a consanguineous family with Werner Syndrome.

Wu PF, Jin JY, Li JJ, He JQ, Fan LL, Jin M, Huang H, Xia K, Tang JY, Xiang R. Wu PF, et al. Among authors: huang h. Mol Med Rep. 2017 Jun;15(6):3735-3738. doi: 10.3892/mmr.2017.6465. Epub 2017 Apr 12. Mol Med Rep. 2017. PMID: 28440507

10

Whole-exome sequencing identifies a novel mutation of GPD1L (R189X) associated with familial conduction disease and sudden death.

Huang H, Chen YQ, Fan LL, Guo S, Li JJ, Jin JY, Xiang R. Huang H, et al. J Cell Mol Med. 2018 Feb;22(2):1350-1354. doi: 10.1111/jcmm.13409. Epub 2017 Oct 27. J Cell Mol Med. 2018. PMID: 29077258 Free PMC article.

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