Kwon MJ - Search Results

1

Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of mitochondrial DNA deletion in chronic progressive external ophthalmoplegia (CPEO).

Kwon MJ, Ki CS, Kim JY, Lee ST, Kim JW, Kang SY. Kwon MJ, et al. Ann Clin Lab Sci. 2011 Fall;41(4):385-9. Ann Clin Lab Sci. 2011. PMID: 22166510

2

Determination of plasma warfarin concentrations in Korean patients and its potential for clinical application.

Kwon MJ, Kim HJ, Kim JW, Lee KH, Sohn KH, Cho HJ, On YK, Kim JS, Lee SY. Kwon MJ, et al. Korean J Lab Med. 2009 Dec;29(6):515-23. doi: 10.3343/kjlm.2009.29.6.515. Korean J Lab Med. 2009. PMID: 20046082

3

Haplotype analysis of the myotonic dystrophy type 1 (DM1) locus in the Korean population.

Kwon MJ, Lee ST, Kim BJ, Sung DH, Kim JW, Ki CS. Kwon MJ, et al. Ann Clin Lab Sci. 2010 Spring;40(2):156-62. Ann Clin Lab Sci. 2010. PMID: 20421627

4

Clinical and genetic analysis of a Korean family with hereditary spastic paraplegia type 3.

Kwon MJ, Lee ST, Kim JW, Sung DH, Ki CS. Kwon MJ, et al. Ann Clin Lab Sci. 2010 Fall;40(4):375-9. Ann Clin Lab Sci. 2010. PMID: 20947813

5

PHOX2B mutations in patients with Ondine-Hirschsprung disease and a review of the literature.

Kwon MJ, Lee GH, Lee MK, Kim JY, Yoo HS, Ki CS, Chang YS, Kim JW, Park WS. Kwon MJ, et al. Eur J Pediatr. 2011 Oct;170(10):1267-71. doi: 10.1007/s00431-011-1434-5. Epub 2011 Mar 4. Eur J Pediatr. 2011. PMID: 21373876

6

Carrier woman of Duchenne muscular dystrophy mimicking inflammatory myositis.

Yoon J, Kim SH, Ki CS, Kwon MJ, Lim MJ, Kwon SR, Joo K, Moon CG, Park W. Yoon J, et al. Among authors: kwon mj, kwon sr. J Korean Med Sci. 2011 Apr;26(4):587-91. doi: 10.3346/jkms.2011.26.4.587. Epub 2011 Mar 28. J Korean Med Sci. 2011. PMID: 21468271 Free PMC article.

7

A novel codon4 mutation (A4F) in the SOD1gene in familial amyotrophic lateral sclerosis.

Baek W, Koh SH, Park JS, Kim YS, Kim HY, Kwon MJ, Ki CS, Kim SH. Baek W, et al. Among authors: kwon mj. J Neurol Sci. 2011 Jul 15;306(1-2):157-9. doi: 10.1016/j.jns.2011.03.041. Epub 2011 Apr 14. J Neurol Sci. 2011. PMID: 21496827

8

Molecular screening of the TSH receptor (TSHR) and thyroid peroxidase (TPO) genes in Korean patients with nonsyndromic congenital hypothyroidism.

Lee ST, Lee DH, Kim JY, Kwon MJ, Kim JW, Hong YH, Lee YW, Ki CS. Lee ST, et al. Among authors: kwon mj. Clin Endocrinol (Oxf). 2011 Nov;75(5):715-21. doi: 10.1111/j.1365-2265.2011.04156.x. Clin Endocrinol (Oxf). 2011. PMID: 21707688

9

Spectra of BRCA1 and BRCA2 mutations in Korean patients with breast cancer: the importance of whole-gene sequencing.

Jang JH, Lee JE, Kwon MJ, Ki CS, Kim JW, Nam SJ, Yang JH. Jang JH, et al. Among authors: kwon mj. J Hum Genet. 2012 Mar;57(3):212-5. doi: 10.1038/jhg.2011.139. Epub 2012 Jan 5. J Hum Genet. 2012. PMID: 22217648

10

Screening of the SOD1, FUS, TARDBP, ANG, and OPTN mutations in Korean patients with familial and sporadic ALS.

Kwon MJ, Baek W, Ki CS, Kim HY, Koh SH, Kim JW, Kim SH. Kwon MJ, et al. Neurobiol Aging. 2012 May;33(5):1017.e17-23. doi: 10.1016/j.neurobiolaging.2011.12.003. Epub 2012 Jan 15. Neurobiol Aging. 2012. PMID: 22244934

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