Yang H - Search Results

1

Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients.

Song D, Dai Y, Chen X, Fu X, Chang X, Wang N, Zhang C, Yan C, Zheng H, Wu L, Jiang L, Hua Y, Yang H, Wang Z, Dai T, Zhu W, Han C, Yuan Y, Kobayashi K, Toda T, Xiong H. Song D, et al. Among authors: yang h. Clin Genet. 2021 Mar;99(3):384-395. doi: 10.1111/cge.13886. Epub 2021 Jan 19. Clin Genet. 2021. PMID: 33200426

2

[Clinical and mutation analyses of a Chinese family with Bethlem myopathy].

Yang HP, Zhang YZ, Ding J, Jiao H, Lü JL, Xiong H. Yang HP, et al. Zhonghua Yi Xue Za Zhi. 2012 Oct 30;92(40):2820-4. Zhonghua Yi Xue Za Zhi. 2012. PMID: 23290209 Chinese.

3

Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophy.

Zhang YZ, Zhao DH, Yang HP, Liu AJ, Chang XZ, Hong DJ, Bonnemann C, Yuan Y, Wu XR, Xiong H. Zhang YZ, et al. Among authors: yang hp. World J Pediatr. 2014 May;10(2):126-32. doi: 10.1007/s12519-014-0481-1. Epub 2014 May 7. World J Pediatr. 2014. PMID: 24801232

4

Founder mutation causes classical Fukuyama congenital muscular dystrophy (FCMD) in Chinese patients.

Yang H, Kobayashi K, Wang S, Jiao H, Xiao J, Toda T, Wu X, Xiong H. Yang H, et al. Brain Dev. 2015 Oct;37(9):880-6. doi: 10.1016/j.braindev.2015.02.010. Epub 2015 Mar 23. Brain Dev. 2015. PMID: 25814170

5

Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy.

Tan D, Yang H, Yuan Y, Bonnemann C, Chang X, Wang S, Wu Y, Wu X, Xiong H. Tan D, et al. Among authors: yang h. PLoS One. 2015 Jun 22;10(6):e0129699. doi: 10.1371/journal.pone.0129699. eCollection 2015. PLoS One. 2015. PMID: 26098624 Free PMC article.

6

Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy.

Ding J, Zhao D, Du R, Zhang Y, Yang H, Liu J, Yan C, Zhang F, Xiong H. Ding J, et al. Among authors: yang h. Brain Dev. 2016 Feb;38(2):242-9. doi: 10.1016/j.braindev.2015.08.005. Epub 2015 Aug 21. Brain Dev. 2016. PMID: 26304763

7

[Analysis of clinical features of 6 patients with infantile type glycogen storage disease type II].

Ding J, Huang Y, Yang H, Zhang Q, Hou X, Liu X, Yang Y, Xiong H. Ding J, et al. Among authors: yang h, yang y. Zhonghua Er Ke Za Zhi. 2015 Jun;53(6):436-41. Zhonghua Er Ke Za Zhi. 2015. PMID: 26310554 Chinese.

8

[Application of targeted capture technology and next generation sequencing in molecular diagnosis of inherited myopathy].

Fu X, Liu A, Yang H, Wei C, Ding J, Wang S, Wang J, Yuan Y, Jiang Y, Xiong H. Fu X, et al. Among authors: yang h. Zhonghua Er Ke Za Zhi. 2015 Oct;53(10):741-6. Zhonghua Er Ke Za Zhi. 2015. PMID: 26758109 Chinese.

9

Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation.

Yang H, Manya H, Kobayashi K, Jiao H, Fu X, Xiao J, Li X, Wang J, Jiang Y, Toda T, Endo T, Wu X, Xiong H. Yang H, et al. J Hum Genet. 2016 Aug;61(8):753-9. doi: 10.1038/jhg.2016.42. Epub 2016 May 19. J Hum Genet. 2016. PMID: 27193224

10

FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies.

Fu X, Yang H, Wei C, Jiao H, Wang S, Yang Y, Han C, Wu X, Xiong H. Fu X, et al. Among authors: yang h, yang y. J Hum Genet. 2016 Dec;61(12):1013-1020. doi: 10.1038/jhg.2016.94. Epub 2016 Jul 21. J Hum Genet. 2016. PMID: 27439679

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