Cheon CK - Search Results

1

A heterozygous mutation in UBE2H in a patient with developmental delay leads to an aberrant brain development in zebrafish.

Shin U, Choi Y, Ko HS, Myung K, Lee S, Cheon CK, Lee Y. Shin U, et al. Among authors: cheon ck. Hum Genomics. 2023 May 19;17(1):44. doi: 10.1186/s40246-023-00491-7. Hum Genomics. 2023. PMID: 37208785 Free PMC article.

2

A novel de novo heterozygous DYRK1A mutation causes complete loss of DYRK1A function and developmental delay.

Lee KS, Choi M, Kwon DW, Kim D, Choi JM, Kim AK, Ham Y, Han SB, Cho S, Cheon CK. Lee KS, et al. Among authors: cheon ck. Sci Rep. 2020 Jun 17;10(1):9849. doi: 10.1038/s41598-020-66750-y. Sci Rep. 2020. PMID: 32555303 Free PMC article.

3

Delineation of the genetic and clinical spectrum, including candidate genes, of monogenic diabetes: a multicenter study in South Korea.

Cheon CK, Lee YJ, Yoo S, Lee JH, Lee JE, Kim HJ, Choi IJ, Choi Y, Lee S, Yoon JY. Cheon CK, et al. J Pediatr Endocrinol Metab. 2020 Oct 8;33(12):1539-1550. doi: 10.1515/jpem-2020-0336. Print 2020 Dec 16. J Pediatr Endocrinol Metab. 2020. PMID: 33031055

4

RFC2 may contribute to the pathogenicity of Williams syndrome revealed in a zebrafish model.

Park JW, Choi TI, Kim TY, Lee YR, Don DW, George-Abraham JK, Robak LA, Trandafir CC, Liu P, Rosenfeld JA, Kim TH, Petit F, Kim YM, Cheon CK, Lee Y, Kim CH. Park JW, et al. Among authors: cheon ck. J Genet Genomics. 2024 Dec;51(12):1389-1403. doi: 10.1016/j.jgg.2024.09.016. Epub 2024 Oct 4. J Genet Genomics. 2024. PMID: 39368701 Free PMC article.

5

Unusual fate of vesicoallantoic cyst with non-visualization of fetal urinary bladder in a case of patent urachus.

Yoo SJ, Lee YH, Ryu HM, Joo MS, Cheon CK, Park KW. Yoo SJ, et al. Among authors: cheon ck. Ultrasound Obstet Gynecol. 1997 Jun;9(6):422-4. doi: 10.1046/j.1469-0705.1997.09060422.x. Ultrasound Obstet Gynecol. 1997. PMID: 9239830 Free article.

6

Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.

Cheon CK, Sohn YB, Ko JM, Lee YJ, Song JS, Moon JW, Yang BK, Ha IS, Bae EJ, Jin HS, Jeong SY. Cheon CK, et al. J Hum Genet. 2014 Jun;59(6):321-5. doi: 10.1038/jhg.2014.25. Epub 2014 Apr 17. J Hum Genet. 2014. PMID: 24739679

7

Clinical and molecular spectra of BRAF-associated RASopathy.

Lee Y, Choi Y, Seo GH, Kim GH, Choi IH, Keum C, Ko JM, Cheon CK, Jeon J, Choi JH, Yoo HW, Lee BH. Lee Y, et al. Among authors: cheon ck. J Hum Genet. 2021 Apr;66(4):389-399. doi: 10.1038/s10038-020-00852-3. Epub 2020 Oct 10. J Hum Genet. 2021. PMID: 33040082

8

Low prevalence of classical galactosemia in Korean population.

Lee BH, Cheon CK, Kim JM, Kang M, Kim JH, Yang SH, Kim GH, Choi JH, Yoo HW. Lee BH, et al. Among authors: cheon ck. J Hum Genet. 2011 Jan;56(1):94-6. doi: 10.1038/jhg.2010.152. Epub 2010 Dec 9. J Hum Genet. 2011. PMID: 21150919

9

A de novo microdeletion of ANKRD11 gene in a Korean patient with KBG syndrome.

Lim JH, Seo EJ, Kim YM, Cho HJ, Lee JO, Cheon CK, Yoo HW. Lim JH, et al. Among authors: cheon ck. Ann Lab Med. 2014 Sep;34(5):390-4. doi: 10.3343/alm.2014.34.5.390. Epub 2014 Aug 21. Ann Lab Med. 2014. PMID: 25187894 Free PMC article.

10

Unravelling the mechanism of action of enzyme replacement therapy in Fabry disease.

Ko Y, Lee C, Moon MH, Hong GR, Cheon CK, Lee JS. Ko Y, et al. Among authors: cheon ck. J Hum Genet. 2016 Feb;61(2):143-9. doi: 10.1038/jhg.2015.123. Epub 2015 Oct 22. J Hum Genet. 2016. PMID: 26490183

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