Seo EJ - Search Results

1

Endocrine manifestations of chromosome 22q11.2 microdeletion syndrome.

Choi JH, Shin YL, Kim GH, Seo EJ, Kim Y, Park IS, Yoo HW. Choi JH, et al. Among authors: seo ej. Horm Res. 2005;63(6):294-9. doi: 10.1159/000086745. Epub 2005 Jul 1. Horm Res. 2005. PMID: 15995343

2

Identification of a novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome presenting with neonatal diabetes mellitus and galactosaemia.

Yoo HW, Shin YL, Seo EJ, Kim GH. Yoo HW, et al. Among authors: seo ej. Eur J Pediatr. 2002 Jun;161(6):351-3. doi: 10.1007/s00431-002-0931-y. Epub 2002 Apr 16. Eur J Pediatr. 2002. PMID: 12029458

3

Novel mutations in the human elastin gene (ELN) causing isolated supravalvular aortic stenosis.

Park S, Seo EJ, Yoo HW, Kim Y. Park S, et al. Among authors: seo ej. Int J Mol Med. 2006 Aug;18(2):329-32. Int J Mol Med. 2006. PMID: 16820942

4

Cardiovascular anomalies in patients with chromosome 22q11.2 deletion: a Korean multicenter study.

Park IS, Ko JK, Kim YH, Yoo HW, Seo EJ, Choi JY, Gil HY, Kim SJ. Park IS, et al. Among authors: seo ej. Int J Cardiol. 2007 Jan 8;114(2):230-5. doi: 10.1016/j.ijcard.2005.12.029. Epub 2006 Jul 7. Int J Cardiol. 2007. PMID: 16824627

5

The IL-10 (-627 A/C) promoter polymorphism may be associated with coronary aneurysms and low serum albumin in Korean children with Kawasaki disease.

Jin HS, Kim HB, Kim BS, Lee JK, Seo EJ, Yoo HW, Park IS, Hong YM, Hong SJ. Jin HS, et al. Among authors: seo ej. Pediatr Res. 2007 May;61(5 Pt 1):584-7. doi: 10.1203/pdr.0b013e3180459fb5. Pediatr Res. 2007. PMID: 17413867

6

The CCR5 (-2135C/T) polymorphism may be associated with the development of Kawasaki disease in Korean children.

Jhang WK, Kang MJ, Jin HS, Yu J, Kim BJ, Kim BS, Lee JK, Seo EJ, Yoo HW, Park IS, Hong YM, Hong SJ. Jhang WK, et al. Among authors: seo ej. J Clin Immunol. 2009 Jan;29(1):22-8. doi: 10.1007/s10875-008-9218-z. Epub 2008 Jul 15. J Clin Immunol. 2009. PMID: 18629619

7

Molecular analysis of the AR and SRD5A2 genes in patients with 46,XY disorders of sex development.

Choi JH, Kim GH, Seo EJ, Kim KS, Kim SH, Yoo HW. Choi JH, et al. Among authors: seo ej. J Pediatr Endocrinol Metab. 2008 Jun;21(6):545-53. J Pediatr Endocrinol Metab. 2008. PMID: 18717241

8

[Identification of a novel deletion region in 3q29 microdeletion syndrome by oligonucleotide array comparative genomic hybridization].

Seo EJ, Jun KR, Yoo HW, Yoo HK, Lee JO. Seo EJ, et al. Korean J Lab Med. 2010 Feb;30(1):70-5. doi: 10.3343/kjlm.2010.30.1.70. Korean J Lab Med. 2010. PMID: 20197726 Korean.

9

Clinical and functional characteristics of a novel heterozygous mutation of the IGF1R gene and IGF1R haploinsufficiency due to terminal 15q26.2->qter deletion in patients with intrauterine growth retardation and postnatal catch-up growth failure.

Choi JH, Kang M, Kim GH, Hong M, Jin HY, Lee BH, Park JY, Lee SM, Seo EJ, Yoo HW. Choi JH, et al. Among authors: seo ej. J Clin Endocrinol Metab. 2011 Jan;96(1):E130-4. doi: 10.1210/jc.2010-1789. Epub 2010 Oct 20. J Clin Endocrinol Metab. 2011. PMID: 20962017

10

Molecular cytogenetic and clinical characterization of a patient with a 5.6-Mb deletion in 7p15 including HOXA cluster.

Jun KR, Seo EJ, Lee JO, Yoo HW, Park IS, Yoon HK. Jun KR, et al. Among authors: seo ej. Am J Med Genet A. 2011 Mar;155A(3):642-7. doi: 10.1002/ajmg.a.33860. Epub 2011 Feb 22. Am J Med Genet A. 2011. PMID: 21344639

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