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Items: 1 to 50 of 82

1.

Correction to: Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia.

Kim EA, Lim YT, Hah JO, Sohn YB, Kim YK, Choi JH, Kim SY, Jang KM, Ahn J, Lee JM.

Int J Hematol. 2019 Jan 10. doi: 10.1007/s12185-018-02590-x. [Epub ahead of print]

PMID:
30632057
2.

Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia.

Kim EA, Lim YT, Hah JO, Sohn YB, Kim YK, Choi JH, Kim SY, Jang KM, Ahn J, Lee JM.

Int J Hematol. 2018 Nov 19. doi: 10.1007/s12185-018-2559-3. [Epub ahead of print] Erratum in: Int J Hematol. 2019 Jan 10;:.

PMID:
30456712
3.

Successful switching from insulin to sulfonylurea in a 3-month-old infant with diabetes due to p.G53D mutation in KCNJ11.

Yoon JS, Park KJ, Sohn YB, Lee HS, Hwang JS.

Ann Pediatr Endocrinol Metab. 2018 Sep;23(3):154-157. doi: 10.6065/apem.2018.23.3.154. Epub 2018 Sep 28.

4.

The efficacy of intracerebroventricular idursulfase-beta enzyme replacement therapy in mucopolysaccharidosis II murine model: heparan sulfate in cerebrospinal fluid as a clinical biomarker of neuropathology.

Sohn YB, Ko AR, Seong MR, Lee S, Kim MR, Cho SY, Kim JS, Sakaguchi M, Nakazawa T, Kosuga M, Seo JH, Okuyama T, Jin DK.

J Inherit Metab Dis. 2018 Nov;41(6):1235-1246. doi: 10.1007/s10545-018-0221-0. Epub 2018 Jul 5.

PMID:
29978271
5.

Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype.

Choi JH, Lee BH, Heo SH, Kim GH, Kim YM, Kim DS, Ko JM, Sohn YB, Hong YH, Lee DH, Kook H, Lim HH, Kim KH, Kim WS, Hong GR, Kim SH, Park SH, Kim CD, Kim SM, Seo JS, Yoo HW.

Medicine (Baltimore). 2017 Jul;96(29):e7387. doi: 10.1097/MD.0000000000007387.

6.

Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings.

Yang JY, Sohn YB, Lee JS, Jang JH, Lee ES.

JAAD Case Rep. 2017 Apr 14;3(3):172-174. doi: 10.1016/j.jdcr.2017.01.023. eCollection 2017 May. No abstract available.

7.

A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes.

Song HK, Sohn YB, Choi YJ, Chung YS, Jang JH.

Medicine (Baltimore). 2017 Mar;96(12):e6367. doi: 10.1097/MD.0000000000006367.

8.

Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis.

Yang M, Cho SY, Park HD, Choi R, Kim YE, Kim J, Lee SY, Ki CS, Kim JW, Sohn YB, Song J, Jin DK.

Orphanet J Rare Dis. 2017 Jan 17;12(1):11. doi: 10.1186/s13023-016-0556-2.

9.

Skin Barrier Function Is Not Impaired and Kallikrein 7 Gene Polymorphism Is Frequently Observed in Korean X-linked Ichthyosis Patients Diagnosed by Fluorescence in Situ Hybridization and Array Comparative Genomic Hybridization.

Lee NR, Yoon NY, Jung M, Kim JY, Seo SJ, Wang HY, Lee H, Sohn YB, Choi EH.

J Korean Med Sci. 2016 Aug;31(8):1307-18. doi: 10.3346/jkms.2016.31.8.1307. Epub 2016 May 20.

10.

Pyramiding of two rice bacterial blight resistance genes, Xa3 and Xa4, and a closely linked cold-tolerance QTL on chromosome 11.

Hur YJ, Cho JH, Park HS, Noh TH, Park DS, Lee JY, Sohn YB, Shin D, Song YC, Kwon YU, Lee JH.

Theor Appl Genet. 2016 Oct;129(10):1861-71. doi: 10.1007/s00122-016-2744-9. Epub 2016 Jun 21.

PMID:
27323767
11.

Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies.

Kim YM, Kim JH, Choi J, Gu-Hwan K, Kim JM, Kang M, Choi IH, Cheon CK, Sohn YB, Maccarana M, Yoo HW, Lee BH.

Mol Med. 2016 Sep;22:147-155. doi: 10.2119/molmed.2015.00254. Epub 2016 Feb 18.

12.

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.

Mol Genet Metab. 2016 Apr;117(4):447-55. doi: 10.1016/j.ymgme.2016.02.001. Epub 2016 Feb 3.

PMID:
26857995
13.

Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients.

Sohn YB, Ko JM, Shin CH, Yang SW, Chae JH, Lee KA.

J Hum Genet. 2016 Mar;61(3):235-9. doi: 10.1038/jhg.2015.135. Epub 2015 Nov 5.

PMID:
26538304
14.

Effect of systemic high dose enzyme replacement therapy on the improvement of CNS defects in a mouse model of mucopolysaccharidosis type II.

Cho SY, Lee J, Ko AR, Kwak MJ, Kim S, Sohn YB, Park SW, Jin DK.

Orphanet J Rare Dis. 2015 Oct 31;10:141. doi: 10.1186/s13023-015-0356-0.

15.

Pharmacokinetics, Pharmacodynamics, and Efficacy of a Novel Long-Acting Human Growth Hormone: Fc Fusion Protein.

Kim SJ, Kwak HH, Cho SY, Sohn YB, Park SW, Huh R, Kim J, Ko AR, Jin DK.

Mol Pharm. 2015 Oct 5;12(10):3759-65. doi: 10.1021/acs.molpharmaceut.5b00550. Epub 2015 Sep 21.

PMID:
26370910
16.

Erratum: A Phase 2 Multi-center, Open-label, Switch-over Trial to Evaluate the Safety and Efficacy of Abcertin® in Patients with Type 1 Gaucher Disease.

Choi JH, Lee BH, Ko JM, Sohn YB, Lee JS, Kim GH, Heo SH, Park JY, Kim YM, Kim JH, Yoo HW.

J Korean Med Sci. 2015 Sep;30(9):1373. doi: 10.3346/jkms.2015.30.9.1373. No abstract available.

17.

Disease-specific Growth Charts of Marfan Syndrome Patients in Korea.

Kwun Y, Kim SJ, Lee J, Isojima T, Choi DS, Kim DK, Huh J, Kang IS, Chang M, Cho SY, Sohn YB, Park SW, Jin DK.

J Korean Med Sci. 2015 Jul;30(7):911-6. doi: 10.3346/jkms.2015.30.7.911. Epub 2015 Jun 10.

18.

Isolated patchy heterochromia of the scalp hair.

Park YJ, Sohn YB, Sohn S, Kim YC.

Eur J Dermatol. 2015 Jul-Aug;25(4):342-3. No abstract available.

PMID:
26105534
19.

A phase 2 multi-center, open-label, switch-over trial to evaluate the safety and efficacy of Abcertin® in patients with type 1 Gaucher disease.

Choi JH, Lee BH, Ko JM, Sohn YB, Lee JS, Kim GH, Heo SH, Park JY, Kim YM, Kim JH, Yoo HW.

J Korean Med Sci. 2015 Apr;30(4):378-84. doi: 10.3346/jkms.2015.30.4.378. Epub 2015 Mar 19. Erratum in: J Korean Med Sci. 2015 Sep;30(9):1373.

20.

The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses.

Sohn YB, Yim SY, Cho EH, Kim OH.

J Korean Med Sci. 2015 Feb;30(2):214-7. doi: 10.3346/jkms.2015.30.2.214. Epub 2015 Jan 21.

21.

Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene.

Park H, Hong S, Cho SI, Cho TJ, Choi IH, Jin DK, Sohn YB, Park SW, Cho HH, Cheon JE, Kim SY, Kim JY, Park SS, Seong MW.

Eur J Med Genet. 2015 Mar;58(3):175-9. doi: 10.1016/j.ejmg.2014.12.011. Epub 2014 Dec 24.

PMID:
25542771
22.

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.

Hum Mutat. 2015 Feb;36(2):191-5. doi: 10.1002/humu.22731.

PMID:
25402547
23.

An overview of Korean patients with mucopolysaccharidosis and collaboration through the Asia Pacific MPS Network.

Cho SY, Sohn YB, Jin DK.

Intractable Rare Dis Res. 2014 Aug;3(3):79-86. doi: 10.5582/irdr.2014.01013. Review.

24.

Disease-specific growth charts for Korean infants with Prader-Willi syndrome.

Lee J, Isojima T, Chang MS, Kwun YH, Huh R, Cho SY, Sohn YB, Jin DK.

Am J Med Genet A. 2015 Jan;167A(1):86-94. doi: 10.1002/ajmg.a.36816. Epub 2014 Oct 22.

PMID:
25339260
25.

Safety and efficacy of enzyme replacement therapy with idursulfase beta in children aged younger than 6 years with Hunter syndrome.

Sohn YB, Cho SY, Lee J, Kwun Y, Huh R, Jin DK.

Mol Genet Metab. 2015 Feb;114(2):156-60. doi: 10.1016/j.ymgme.2014.08.009. Epub 2014 Aug 30.

PMID:
25219292
26.

TAGLN expression is upregulated in NF1-associated malignant peripheral nerve sheath tumors by hypomethylation in its promoter and subpromoter regions.

Park GH, Lee SJ, Yim H, Han JH, Kim HJ, Sohn YB, Ko JM, Jeong SY.

Oncol Rep. 2014 Oct;32(4):1347-54. doi: 10.3892/or.2014.3379. Epub 2014 Aug 4.

27.

Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.

Kaname T, Ki CS, Niikawa N, Baillie GS, Day JP, Yamamura K, Ohta T, Nishimura G, Mastuura N, Kim OH, Sohn YB, Kim HW, Cho SY, Ko AR, Lee JY, Kim HW, Ryu SH, Rhee H, Yang KS, Joo K, Lee J, Kim CH, Cho KH, Kim D, Yanagi K, Naritomi K, Yoshiura K, Kondoh T, Nii E, Tonoki H, Houslay MD, Jin DK.

Cell Signal. 2014 Nov;26(11):2446-59. doi: 10.1016/j.cellsig.2014.07.025. Epub 2014 Jul 24.

PMID:
25064455
28.

Improvement of cardiac function by short-term enzyme replacement therapy in a murine model of cardiomyopathy associated with Hunter syndrome evaluated by serial echocardiography with speckle tracking 2-D strain analysis.

Lee SC, Lee J, Jin DK, Kim JS, Jeon ES, Kwun YH, Chang MS, Ko AR, Yook YJ, Sohn YB.

Mol Genet Metab. 2014 Jul;112(3):218-23. doi: 10.1016/j.ymgme.2014.04.005. Epub 2014 Apr 30.

PMID:
24836711
29.

First identified Korean family with Sotos syndrome caused by a novel intragenic mutation in NSD1.

Park SH, Lee JE, Sohn YB, Ko JM.

Ann Clin Lab Sci. 2014 Spring;44(2):228-31.

PMID:
24795065
30.

A biochemical and physicochemical comparison of two recombinant enzymes used for enzyme replacement therapies of hunter syndrome.

Chung YK, Sohn YB, Sohn JM, Lee J, Chang MS, Kwun Y, Kim CH, Lee JY, Yook YJ, Ko AR, Jin DK.

Glycoconj J. 2014 May;31(4):309-15. doi: 10.1007/s10719-014-9523-0. Epub 2014 Apr 30.

PMID:
24781369
31.

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.

J Hum Genet. 2014 Jun;59(6):321-5. doi: 10.1038/jhg.2014.25. Epub 2014 Apr 17.

PMID:
24739679
32.

Impact of enzyme replacement therapy on linear growth in Korean patients with mucopolysaccharidosis type II (Hunter syndrome).

Cho SY, Huh R, Chang MS, Lee J, Kwun Y, Maeng SH, Kim SJ, Sohn YB, Park SW, Kwon EK, Han SJ, Jung J, Jin DK.

J Korean Med Sci. 2014 Feb;29(2):254-60. doi: 10.3346/jkms.2014.29.2.254. Epub 2014 Jan 28.

33.

A Case of CATCH22 Syndrome Diagnosed in Postmenopausal Woman.

Lee SK, Lee MJ, Lee HJ, Kim BK, Sohn YB, Chung YS.

J Bone Metab. 2013 May;20(1):57-60. doi: 10.11005/jbm.2013.20.1.57. Epub 2013 May 13.

34.

An unusual presentation of diabetic ketoacidosis in familial hajdu-cheney syndrome: a case report.

Lee GH, An SY, Sohn YB, Jeong SY, Chung YS.

J Korean Med Sci. 2013 Nov;28(11):1682-6. doi: 10.3346/jkms.2013.28.11.1682. Epub 2013 Oct 31.

35.

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.

Yonsei Med J. 2013 Nov;54(6):1463-70. doi: 10.3349/ymj.2013.54.6.1463.

36.

Clinical characterization and molecular classification of 12 Korean patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism.

Cho SY, Yoon YA, Ki CS, Huh HJ, Yoo HW, Lee BH, Kim GH, Yoo JH, Kim SY, Kim SJ, Sohn YB, Park SW, Huh R, Chang MS, Lee J, Kwun Y, Maeng SH, Jin DK.

Exp Clin Endocrinol Diabetes. 2013 Oct;121(9):539-45. doi: 10.1055/s-0033-1349867. Epub 2013 Oct 14.

PMID:
24127307
37.

Genetic analysis and molecular mapping of low amylose gene du12(t) in rice (Oryza sativa L.).

Kiswara G, Lee JH, Hur YJ, Cho JH, Lee JY, Kim SY, Sohn YB, Song YC, Nam MH, Yun BW, Kim KM.

Theor Appl Genet. 2014 Jan;127(1):51-7. doi: 10.1007/s00122-013-2200-z. Epub 2013 Oct 10.

PMID:
24114051
38.

A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome.

Kim SJ, Cho SY, Maeng SH, Sohn YB, Kim SJ, Ki CS, Jin DK.

Korean J Pediatr. 2013 Aug;56(8):355-8. doi: 10.3345/kjp.2013.56.8.355. Epub 2013 Aug 27.

39.

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.

J Hum Genet. 2013 Nov;58(11):728-33. doi: 10.1038/jhg.2013.92. Epub 2013 Sep 5.

PMID:
24005894
40.
41.

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.

J Korean Med Sci. 2013 Jul;28(7):1107-10. doi: 10.3346/jkms.2013.28.7.1107. Epub 2013 Jul 3.

42.

Obesity and calcinosis cutis: characteristic early signs of infantile pseudohypoparathyroidism.

Park JY, Sohn YB, Cho JH, Hwang JS, Lee ES.

Eur J Dermatol. 2013 May-Jun;23(3):420-2. doi: 10.1684/ejd.2013.2045. No abstract available.

PMID:
23783828
43.

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.

Pediatr Neurol. 2013 Jun;48(6):447-53. doi: 10.1016/j.pediatrneurol.2013.02.004.

PMID:
23668869
44.

Improvement of CNS defects via continuous intrathecal enzyme replacement by osmotic pump in mucopolysaccharidosis type II mice.

Sohn YB, Lee J, Cho SY, Kim SJ, Ko AR, Nam MH, Jin DK.

Am J Med Genet A. 2013 May;161A(5):1036-43. doi: 10.1002/ajmg.a.35869. Epub 2013 Mar 25.

PMID:
23529876
45.

Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter syndrome).

Sohn YB, Cho SY, Park SW, Kim SJ, Ko AR, Kwon EK, Han SJ, Jin DK.

Orphanet J Rare Dis. 2013 Mar 18;8:42. doi: 10.1186/1750-1172-8-42.

46.

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.

Am J Med Genet A. 2013 Mar;161A(3):509-17. doi: 10.1002/ajmg.a.35298. Epub 2013 Feb 8.

PMID:
23401410
47.

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.

J Hum Genet. 2013 Mar;58(3):150-4. doi: 10.1038/jhg.2012.148. Epub 2013 Jan 10.

PMID:
23303386
48.

Diagnosis and constitutional and laboratory features of Korean girls referred for precocious puberty.

Kim D, Cho SY, Maeng SH, Yi ES, Jung YJ, Park SW, Sohn YB, Jin DK.

Korean J Pediatr. 2012 Dec;55(12):481-6. doi: 10.3345/kjp.2012.55.12.481. Epub 2012 Dec 20.

49.

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.

Int J Oncol. 2013 Feb;42(2):657-66. doi: 10.3892/ijo.2012.1751. Epub 2012 Dec 24.

PMID:
23292448
50.

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.

J Korean Med Sci. 2012 Dec;27(12):1586-90. doi: 10.3346/jkms.2012.27.12.1586. Epub 2012 Dec 7.

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