He J - Search Results

1

Genetic screening method for analyzing survival motor neuron copy number in spinal muscular atrophy by multiplex ligation-dependent probe amplification and droplet digital polymerase chain reaction.

Hong JM, Zhao M, He J, Huang XJ, Zhao ZY, Chen WJ, Wang N, Li JJ. Hong JM, et al. Among authors: he j. Chin Med J (Engl). 2020 Oct 20;133(20):2510-2511. doi: 10.1097/CM9.0000000000001102. Chin Med J (Engl). 2020. PMID: 32960844 Free PMC article. No abstract available.

2

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.

Chen WJ, Lin Y, Xiong ZQ, Wei W, Ni W, Tan GH, Guo SL, He J, Chen YF, Zhang QJ, Li HF, Lin Y, Murong SX, Xu J, Wang N, Wu ZY. Chen WJ, et al. Among authors: he j. Nat Genet. 2011 Nov 20;43(12):1252-5. doi: 10.1038/ng.1008. Nat Genet. 2011. PMID: 22101681

3

Modification of phenotype by SMN2 copy numbers in two Chinese families with SMN1 deletion in two continuous generations.

Chen WJ, He J, Zhang QJ, Lin QF, Chen YF, Lin XZ, Lin MT, Murong SX, Wang N. Chen WJ, et al. Among authors: he j. Clin Chim Acta. 2012 Nov 20;413(23-24):1855-60. doi: 10.1016/j.cca.2012.07.020. Epub 2012 Aug 4. Clin Chim Acta. 2012. PMID: 22884440

4

[Analysis of CLCN1 gene mutations in 2 patients with myotonia congenita].

Chen ZT, He J, Chen WJ, Chen SG, Lin JL, Ye QY, Huang HP. Chen ZT, et al. Among authors: he j. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Dec;29(6):690-2. doi: 10.3760/cma.j.issn.1003-9406.2012.06.014. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012. PMID: 23225051 Chinese.

5

Molecular analysis of SMN1, SMN2, NAIP, GTF2H2, and H4F5 genes in 157 Chinese patients with spinal muscular atrophy.

He J, Zhang QJ, Lin QF, Chen YF, Lin XZ, Lin MT, Murong SX, Wang N, Chen WJ. He J, et al. Gene. 2013 Apr 15;518(2):325-9. doi: 10.1016/j.gene.2012.12.109. Epub 2013 Jan 23. Gene. 2013. PMID: 23352792

6

Noninvasive urine-derived cell lines derived from neurological genetic patients.

Zhang QJ, He J, Ni W, Lin X, Yao XP, Lin MT, Murong SX, Wang N, Chen WJ. Zhang QJ, et al. Among authors: he j. Neuroreport. 2013 Mar 6;24(4):161-6. doi: 10.1097/WNR.0b013e32835e2e44. Neuroreport. 2013. PMID: 23358449

7

Molecular analysis of the dystrophin gene in 407 Chinese patients with Duchenne/Becker muscular dystrophy by the combination of multiplex ligation-dependent probe amplification and Sanger sequencing.

Chen WJ, Lin QF, Zhang QJ, He J, Liu XY, Lin MT, Murong SX, Liou CW, Wang N. Chen WJ, et al. Among authors: he j. Clin Chim Acta. 2013 Aug 23;423:35-8. doi: 10.1016/j.cca.2013.04.006. Epub 2013 Apr 13. Clin Chim Acta. 2013. PMID: 23588064

8

Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia calcification.

Chen WJ, Yao XP, Zhang QJ, Ni W, He J, Li HF, Liu XY, Zhao GX, Murong SX, Wang N, Wu ZY. Chen WJ, et al. Among authors: he j. Gene. 2013 Oct 15;529(1):159-62. doi: 10.1016/j.gene.2013.07.071. Epub 2013 Aug 11. Gene. 2013. PMID: 23939468

9

Variations of IGHMBP2 gene was not the major cause of Han Chinese patients with non-5q-spinal muscular atrophies.

Lin X, Zhang QJ, He J, Lin MT, Murong SX, Wang N, Chen WJ. Lin X, et al. Among authors: he j. J Child Neurol. 2014 Aug;29(8):NP35-9. doi: 10.1177/0883073813497827. Epub 2013 Sep 9. J Child Neurol. 2014. PMID: 24022109

10

Clinical and genetic spectra in a series of Chinese patients with Charcot-Marie-Tooth disease.

Wang R, He J, Li JJ, Ni W, Wu ZY, Chen WJ, Wang Y. Wang R, et al. Among authors: he j. Clin Chim Acta. 2015 Dec 7;451(Pt B):263-70. doi: 10.1016/j.cca.2015.10.007. Epub 2015 Oct 8. Clin Chim Acta. 2015. PMID: 26454100

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