Jin DK - Search Results

1

Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia.

Kim SJ, Bieganski T, Sohn YB, Kozlowski K, Semënov M, Okamoto N, Kim CH, Ko AR, Ahn GH, Choi YL, Park SW, Ki CS, Kim OH, Nishimura G, Unger S, Superti-Furga A, Jin DK. Kim SJ, et al. Among authors: jin dk. Hum Genet. 2011 May;129(5):497-502. doi: 10.1007/s00439-011-0947-3. Epub 2011 Jan 9. Hum Genet. 2011. PMID: 21221996

2

BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.

Cho SY, Bae JS, Kim NKD, Forzano F, Girisha KM, Baldo C, Faravelli F, Cho TJ, Kim D, Lee KY, Ikegawa S, Shim JS, Ko AR, Miyake N, Nishimura G, Superti-Furga A, Spranger J, Kim OH, Park WY, Jin DK. Cho SY, et al. Among authors: jin dk. Am J Hum Genet. 2016 Jun 2;98(6):1243-1248. doi: 10.1016/j.ajhg.2016.04.004. Epub 2016 May 26. Am J Hum Genet. 2016. PMID: 27236923 Free PMC article.

3

High-dose enzyme replacement therapy attenuates cerebroventriculomegaly in a mouse model of mucopolysaccharidosis type II.

Ahn SY, Chang YS, Sung DK, Ko AR, Kim CH, Yoo DK, Lim KH, Sohn YB, Jin DK, Park WS. Ahn SY, et al. Among authors: jin dk. J Hum Genet. 2013 Nov;58(11):728-33. doi: 10.1038/jhg.2013.92. Epub 2013 Sep 5. J Hum Genet. 2013. PMID: 24005894

4

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: jin dk. 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

5

Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.

Cho SY, Asharani PV, Kim OH, Iida A, Miyake N, Matsumoto N, Nishimura G, Ki CS, Hong G, Kim SJ, Sohn YB, Park SW, Lee J, Kwun Y, Carney TJ, Huh R, Ikegawa S, Jin DK. Cho SY, et al. Among authors: jin dk. Hum Mutat. 2015 Feb;36(2):191-5. doi: 10.1002/humu.22731. Hum Mutat. 2015. PMID: 25402547

6

AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II.

Ko AR, Jin DK, Cho SY, Park SW, Przybylska M, Yew NS, Cheng SH, Kim JS, Kwak MJ, Kim SJ, Sohn YB. Ko AR, et al. Among authors: jin dk. Mol Genet Metab. 2016 Apr;117(4):447-55. doi: 10.1016/j.ymgme.2016.02.001. Epub 2016 Feb 3. Mol Genet Metab. 2016. PMID: 26857995

7

Serum cystatin C for estimation of residual renal function in children on peritoneal dialysis.

Kim SJ, Sohn YB, Park SW, Jin DK, Paik KH. Kim SJ, et al. Among authors: jin dk. Pediatr Nephrol. 2011 Mar;26(3):433-40. doi: 10.1007/s00467-010-1678-8. Epub 2010 Nov 11. Pediatr Nephrol. 2011. PMID: 21069389

8

A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis.

Sohn YB, Kim SJ, Park SW, Park HD, Ki CS, Kim CH, Huh SW, Yeau S, Paik KH, Jin DK. Sohn YB, et al. Among authors: jin dk. Am J Med Genet A. 2010 Dec;152A(12):3129-32. doi: 10.1002/ajmg.a.33589. Am J Med Genet A. 2010. PMID: 21108396

9

Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA.

Park HD, Ko AR, Ki CS, Lee SY, Kim JW, Cho SY, Kim SH, Park SW, Sohn YB, Jin DK. Park HD, et al. Among authors: jin dk. Am J Med Genet A. 2013 Mar;161A(3):509-17. doi: 10.1002/ajmg.a.35298. Epub 2013 Feb 8. Am J Med Genet A. 2013. PMID: 23401410

10

Osteogenesis imperfecta Type VI with severe bony deformities caused by novel compound heterozygous mutations in SERPINF1.

Cho SY, Ki CS, Sohn YB, Kim SJ, Maeng SH, Jin DK. Cho SY, et al. Among authors: jin dk. J Korean Med Sci. 2013 Jul;28(7):1107-10. doi: 10.3346/jkms.2013.28.7.1107. Epub 2013 Jul 3. J Korean Med Sci. 2013. PMID: 23853499 Free PMC article.

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