Sohn YB - Search Results

1

Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations.

Sohn YB, Lee CG, Ko JM, Yang JA, Yun JN, Jung EJ, Jin HS, Park SJ, Jeong SY. Sohn YB, et al. J Hum Genet. 2013 Feb;58(2):73-7. doi: 10.1038/jhg.2012.135. Epub 2012 Nov 29. J Hum Genet. 2013. PMID: 23190751

2

Retrospective analysis of the clinical manifestations and survival of Korean patients with mucopolysaccharidosis type II: emphasis on the cardiovascular complication and mortality cases.

Sohn YB, Choi EW, Kim SJ, Park SW, Kim SH, Cho SY, Jeong SI, Huh J, Kang IS, Lee HJ, Paik KH, Jin DK. Sohn YB, et al. Am J Med Genet A. 2012 Jan;158A(1):90-6. doi: 10.1002/ajmg.a.34371. Epub 2011 Nov 21. Am J Med Genet A. 2012. PMID: 22105882

3

Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency.

Sohn YB, Ki CS, Park SW, Cho SY, Ko AR, Kwon MJ, Kim JY, Park HD, Kim OH, Jin DK. Sohn YB, et al. Ann Clin Lab Sci. 2012 Summer;42(3):307-12. Ann Clin Lab Sci. 2012. PMID: 22964620 Free article.

4

Clinical and cytogenetic features of a Potocki-Lupski syndrome with the shortest 0.25Mb microduplication in 17p11.2 including RAI1.

Lee CG, Park SJ, Yim SY, Sohn YB. Lee CG, et al. Among authors: sohn yb. Brain Dev. 2013 Aug;35(7):681-5. doi: 10.1016/j.braindev.2012.09.009. Epub 2012 Oct 15. Brain Dev. 2013. PMID: 23078968

5

Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome.

Lee CG, Park SJ, Yun JN, Yim SY, Sohn YB. Lee CG, et al. Among authors: sohn yb. J Korean Med Sci. 2012 Dec;27(12):1586-90. doi: 10.3346/jkms.2012.27.12.1586. Epub 2012 Dec 7. J Korean Med Sci. 2012. PMID: 23255863 Free PMC article.

6

NF1 deficiency causes Bcl-xL upregulation in Schwann cells derived from neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors.

Park HJ, Lee SJ, Sohn YB, Jin HS, Han JH, Kim YB, Yim H, Jeong SY. Park HJ, et al. Among authors: sohn yb. Int J Oncol. 2013 Feb;42(2):657-66. doi: 10.3892/ijo.2012.1751. Epub 2012 Dec 24. Int J Oncol. 2013. PMID: 23292448

7

The proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea.

Cho SY, Ki CS, Sohn YB, Maeng SH, Jung YJ, Kim SJ, Jin DK. Cho SY, et al. Among authors: sohn yb. J Hum Genet. 2013 Mar;58(3):150-4. doi: 10.1038/jhg.2012.148. Epub 2013 Jan 10. J Hum Genet. 2013. PMID: 23303386

8

Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.

Ko JM, Sohn YB, Jeong SY, Kim HJ, Messiaen LM. Ko JM, et al. Among authors: sohn yb. Pediatr Neurol. 2013 Jun;48(6):447-53. doi: 10.1016/j.pediatrneurol.2013.02.004. Pediatr Neurol. 2013. PMID: 23668869

9

Clinical and cytogenetic features of a patient with partial trisomy 8q and partial monosomy 13q delineated by array comparative genomic hybridization.

Sohn YB, Yun JN, Park SJ, Park MS, Kim SH, Lee JH. Sohn YB, et al. Ann Clin Lab Sci. 2013 Summer;43(3):332-6. Ann Clin Lab Sci. 2013. PMID: 23884231

10

Array-based comparative genomic hybridization in 190 Korean patients with developmental delay and/or intellectual disability: a single tertiary care university center study.

Lee CG, Park SJ, Yun JN, Ko JM, Kim HJ, Yim SY, Sohn YB. Lee CG, et al. Among authors: sohn yb. Yonsei Med J. 2013 Nov;54(6):1463-70. doi: 10.3349/ymj.2013.54.6.1463. Yonsei Med J. 2013. PMID: 24142652 Free PMC article.

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