Wu X - Search Results

1

A de novo mutation of the MYH7 gene in a large Chinese family with autosomal dominant myopathy.

Oda T, Xiong H, Kobayashi K, Wang S, Satake W, Jiao H, Yang Y, Cha PC, Hayashi YK, Nishino I, Suzuki Y, Sugano S, Wu X, Toda T. Oda T, et al. Among authors: wu x. Hum Genome Var. 2015 Jul 16;2:15022. doi: 10.1038/hgv.2015.22. eCollection 2015. Hum Genome Var. 2015. PMID: 27081534 Free PMC article.

2

[Clinical and mutation analysis of a Chinese family with muscle eye brain disease].

Jiao H, Xiong H, Zhang YZ, Wang S, Yang YL, Wu XR. Jiao H, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Oct;28(5):481-4. doi: 10.3760/cma.j.issn.1003-9406.2011.05.001. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011. PMID: 21983716 Chinese.

3

[Clinical, molecular pathological and genetic analyses of a Chinese family with congenital muscular dystrophy type 1A].

Wang S, Xiong H, Luo J, Chang X, Yuan Y, Wu X. Wang S, et al. Among authors: wu x. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Feb;27(1):13-7. doi: 10.3760/cma.j.issn.1003-9406.2010.01.003. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010. PMID: 20140860 Chinese.

4

Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients.

Jiao H, Manya H, Wang S, Zhang Y, Li X, Xiao J, Yang Y, Kobayashi K, Toda T, Endo T, Wu X, Xiong H. Jiao H, et al. Among authors: wu x. Mol Genet Genomics. 2013 Aug;288(7-8):297-308. doi: 10.1007/s00438-013-0749-5. Epub 2013 May 21. Mol Genet Genomics. 2013. PMID: 23689641

5

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. Among authors: wu x. 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

6

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. Among authors: wu x. 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

7

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: wu x. 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

8

Fukutin gene retrotransposal insertion in a non-Japanese Fukuyama congenital muscular dystrophy (FCMD) patient.

Xiong H, Wang S, Kobayashi K, Jiang Y, Wang J, Chang X, Yuan Y, Liu J, Toda T, Fukuyama Y, Wu X. Xiong H, et al. Among authors: wu x. Am J Med Genet A. 2009 Nov;149A(11):2403-8. doi: 10.1002/ajmg.a.33057. Am J Med Genet A. 2009. PMID: 19842201

9

Novel copy number variation of POMGNT1 associated with muscle-eye-brain disease detected by next-generation sequencing.

Fu X, Yang H, Jiao H, Wang S, Liu A, Li X, Xiao J, Yang Y, Wu X, Xiong H. Fu X, et al. Among authors: wu x. Sci Rep. 2017 Aug 1;7(1):7056. doi: 10.1038/s41598-017-07349-8. Sci Rep. 2017. PMID: 28765568 Free PMC article.

10

[Preliminary analysis of mutations in X-linked adrenoleukodystrophy gene(ABCD1) in Chinese patients].

Xiong H, Pan H, Zhang YH, Wu XR. Xiong H, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003 Oct;20(5):400-3. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003. PMID: 14556192 Chinese.

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

59,438 results

Search Page

Filters