Cho SI - Search Results

1

Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia.

Park H, Kang SH, Park S, Kim SY, Seo SH, Lee SJ, Lee JA, Cho SI, Sung JJ, Lee KW, Kim JY, Park SS, Seong MW. Park H, et al. Among authors: cho si. J Neurol Sci. 2015 Oct 15;357(1-2):167-72. doi: 10.1016/j.jns.2015.07.024. Epub 2015 Jul 17. J Neurol Sci. 2015. PMID: 26208798

2

False homozygous deletions of SMN1 exon 7 using Dra I PCR-RFLP caused by a novel mutation in spinal muscular atrophy.

Kang SH, Cho SI, Chae JH, Chung KN, Ra EK, Kim SY, Seong MW, Kim JY, Park SS. Kang SH, et al. Among authors: cho si. Genet Test Mol Biomarkers. 2009 Aug;13(4):511-3. doi: 10.1089/gtmb.2008.0158. Genet Test Mol Biomarkers. 2009. PMID: 19663601

3

Low contribution of BRCA1/2 genomic rearrangement to high-risk breast cancer in the Korean population.

Seong MW, Cho SI, Noh DY, Han W, Kim SW, Park CM, Park HW, Kim SY, Kim JY, Park SS. Seong MW, et al. Among authors: cho si. Fam Cancer. 2009;8(4):505-8. doi: 10.1007/s10689-009-9279-z. Epub 2009 Aug 8. Fam Cancer. 2009. PMID: 19669600

4

Molecular characterization of the NF2 gene in Korean patients with neurofibromatosis type 2: a report of four novel mutations.

Seong MW, Yeo IK, Cho SI, Park CK, Kim SK, Paek SH, Kim DG, Jung HW, Park H, Kim SY, Kim JY, Park SS. Seong MW, et al. Among authors: cho si. Korean J Lab Med. 2010 Apr;30(2):190-4. doi: 10.3343/kjlm.2010.30.2.190. Korean J Lab Med. 2010. PMID: 20445339

5

Glutaric aciduria type 1 in Korea: report of two novel mutations.

Park JD, Lim B, Kim KJ, Hwang YS, Kim SK, Kang SH, Cho SI, Park SS, Lee JS, Chae JH. Park JD, et al. Among authors: cho si. J Korean Med Sci. 2010 Jun;25(6):957-60. doi: 10.3346/jkms.2010.25.6.957. Epub 2010 May 24. J Korean Med Sci. 2010. PMID: 20514322 Free PMC article.

6

Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene.

Cho TJ, Kim OH, Lee HR, Shin SJ, Yoo WJ, Park WY, Park SS, Cho SI, Choi IH. Cho TJ, et al. Among authors: cho si. J Korean Med Sci. 2010 Jul;25(7):1105-8. doi: 10.3346/jkms.2010.25.7.1105. Epub 2010 Jun 16. J Korean Med Sci. 2010. PMID: 20592910 Free PMC article.

7

Molecular identification of the novel Gγ-β hybrid hemoglobin: Hb Gγ-β Ulsan (Gγ through 13; β from 19).

Kim SY, Lee SH, Cho SI, Song SH, Hattori Y, Park SK, Song J, Choi Y, Yang M, Park H, Kim SR, Seong MW, Kim JY, Cho HI, Park SS. Kim SY, et al. Among authors: cho si, cho hi. Blood Cells Mol Dis. 2010 Dec 15;45(4):276-9. doi: 10.1016/j.bcmd.2010.10.001. Epub 2010 Oct 29. Blood Cells Mol Dis. 2010. PMID: 21035360

8

Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.

Kim OH, Park H, Seong MW, Cho TJ, Nishimura G, Superti-Furga A, Unger S, Ikegawa S, Choi IH, Song HR, Kim HW, Yoo WJ, Shim JS, Chung CY, Oh CW, Jeong C, Song KS, Seo SG, Cho SI, Yeo IK, Kim SY, Park S, Park SS. Kim OH, et al. Among authors: cho tj, cho si. Am J Med Genet A. 2011 Nov;155A(11):2669-80. doi: 10.1002/ajmg.a.34246. Epub 2011 Sep 30. Am J Med Genet A. 2011. PMID: 21965141

9

A case report of a male patient with Hb Hammersmith [β42(CD1)Phe→Ser, TTT>TCT].

Park S, Kang HJ, Cho SI, Kim SY, Seong MW, Park SS. Park S, et al. Among authors: cho si. Hemoglobin. 2012;36(2):161-5. doi: 10.3109/03630269.2011.645179. Epub 2012 Jan 4. Hemoglobin. 2012. PMID: 22217314

10

The first study on nucleotide-level identification of Hb Koriyama in a patient with severe hemolytic anemia.

Park S, Park JE, Cho SI, Jeon Y, Park SS, Seong MW. Park S, et al. Among authors: cho si. Ann Lab Med. 2012 Jan;32(1):99-101. doi: 10.3343/alm.2012.32.1.99. Epub 2011 Dec 20. Ann Lab Med. 2012. PMID: 22259788 Free PMC article.

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