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SCI REP-UK 2019 10.1038/s41598-019-52644-1
Impact of BMI on peak growth hormone responses to provocative tests and therapeutic outcome in children with growth hormone deficiency
Yang1, A; Cho, SY; Kwak, MJ; Kim, SJ; Park, SW; Jin, DK; Lee, JE
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ANN HUM GENET 2019 10.1111/ahg.12298
Identification of a novel mutation in EXT2 in a fourth-generation Korean family with multiple osteochondromas and overview of mutation spectrum
Yang1, A; Kim, J; Jang, JH; Lee, C; Lee, JE; Cho, SY; Jin, DK
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J GLAUCOMA 2019 10.1097/IJG.0000000000001190
Clinical Characteristics of Autosomal Dominant GJA1 Missense Mutation Linked to Oculodentodigital Dysplasia in a Korean Family
Park1, DY; Cho, SY; Jin, DK; Kee, C
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AM J HUM GENET 2019 10.1016/j.ajhg.2019.01.009
Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia
Chang1, HR; Cho, SY; Lee, JH; Lee, E; Seo, J; Lee, HR; Cavalcanti, DP; Makitie, O; Valta, H; Girisha, KM; Lee, C; Neethukrishna, K; Bhavani, GS; Shukla, A; Nampoothiri, S; Phadkei, SR; Park, MJ; Ikegawa, S; Wang, Z; Higgs, MR; Stewart, GS; Jung, E; Lee, MS; Park, JH; Lee, EA; Kim, H; Myung, K; Jeon, W; Lee, K; Kim, D; Kim, OH; Choi, M; Lee, HW; Kim, Y; Cho, TJ
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CLIN DYSMORPHOL 2019 10.1097/MCD.0000000000000241
The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported
Fukuhara1, Y; Cho, SY; Miyazaki, O; Hattori, A; Seo, JH; Mashima, R; Kosuga, M; Fukami, M; Jin, DK; Okuyama, T; Nishimura, G
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J INHERIT METAB DIS 2018 10.1007/s10545-018-0221-0
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
Sohn1, 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
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ANN CLIN LAB SCI 2018
Oculodentodigital Dysplasia with a Novel Mutation in GJA1 Diagnosed by Targeted Gene Panel Sequencing: A Case Report and Literature Review
Choi1, J; Yang, A; Song, A; Lim, M; Kim, J; Jang, JH; Park, KT; Cho, SY; Jin, DK
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ANN CLIN LAB SCI 2018
Rare Association of Mucolipidosis III alpha/beta with Dilated Cardiomyopathy
Kwak1, MJ; Lee, HW; Kim, YM; Cho, SY; Park, HD; Jin, DK
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MEDICINE 2018 10.1097/MD.0000000000012124
Ptosis in childhood: A clinical sign of several disorders Case series reports and literature review
Pavone1, P; Cho, SY; Pratico, AD; Falsaperla, R; Ruggieri, M; Jin, DK
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ANN CLIN LAB SCI 2018
First Korean Case of Renpenning Syndrome with Novel Mutation in PQBP1 Diagnosed by Targeted Exome Sequencing, and Literature Review
Jeong1, HI; Yang, A; Kim, J; Jang, JH; Cho, SY; Jin, DK
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J Endocrinol Invest 2018 10.1007/s40618-017-0786-8
Recombinant growth hormone therapy for prepubertal children with idiopathic short stature in Korea: a phase III randomized trial
Kim1, J; Suh, BK; Ko, CW; Lee, KH; Shin, CH; Hwang, JS; Kim, HS; Chung, WY; Kim, CJ; Han, HS; Kwon, NY; Cho, SY; Yoo, HW; Jin, DK
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BMC MED GENET 2017 10.1186/s12881-017-0484-6
HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report
Yang1, A; Kim, J; Ki, CS; Hong, SH; Cho, SY; Jin, DK
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CLIN CHIM ACTA 2017 10.1016/j.cca.2017.06.010
Further delineation of COG8-CDG: A case with novel compound heterozygous mutations diagnosed by targeted exome sequencing
Yang1, A; Cho, SY; Jang, JH; Kim, J; Kim, SZ; Lee, BH; Yoo, HW; Jin, DK
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ORPHANET J RARE DIS 2017 10.1186/s13023-017-0702-5
Prevalence and risk factors for type 2 diabetes mellitus with Prader-Willi syndrome: a single center experience
Yang1, A; Kim, J; Cho, SY; Jin, DK
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Ann Lab Med. 2017 Jan;37(1):92-94. doi: 10.3343/alm.2017.37.1.92.
Acromicric Dysplasia Caused by a Novel Heterozygous Mutation of FBN1 and Effects of Growth Hormone Treatment
Jin HS11, Song HY2, Cho SY3, Ki CS4, Yang SH1, Kim OH5, Kim SJ6.
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Orphanet J Rare Dis. 2016 Aug 9;11(1):113. doi: 10.1186/s13023-016-0496-x.
Clinical and endocrine characteristics and genetic analysis of Korean children with McCune-Albright syndrome: a retrospective cohort study
Cho EK11, Kim J1, Yang A1, Ki CS2, Lee JE3, Cho SY4, Jin DK1.
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BMC Med Genet. 2016 Aug 12;17(1):58. doi: 10.1186/s12881-016-0319-x.
Report of 5 novel mutations of the alpha-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I
Kwak MJ11, Huh R2, Kim J2, Park HD3, Cho SY2, Jin DK4.
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Am J Hum Genet. 2016 Jun 2;98(6):1243-8. doi: 10.1016/j.ajhg.2016.04.004. Epub 2016 May 26.
BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia
Cho SY11, Bae JS2, Kim NK3, Forzano F4, Girisha KM5, Baldo C6, Faravelli F4, Cho TJ7, Kim D8, Lee KY8, Ikegawa S9, Shim JS10, Ko AR11, Miyake N12, Nishimura G13, Superti-Furga A14, Spranger J15, Kim OH16, Park WY17, Jin DK18.
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Ann Clin Lab Sci. 2016 May;46(3):302-7.
First Korean Case of Infantile Hypophosphatasia with Novel Mutation in ALPL and Literature Review
Park EG11, Cho SY2, Lee J1, Kim J1, Cho H1, Kim J1, Huh R1, Ki CS3, Kim OH4, Jin DK5.
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Medicine (Baltimore). 2016 May;95(18):e3155. doi: 10.1097/MD.0000000000003155.
Arnold Chiari Malformation With Sponastrime (Spondylar and Nasal Changes, With Striations of the Metaphyses) Dysplasia A Case Report
Jeong JH11, Lee AL, Cho SY, Jin DK, Im SB.
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Mol Genet Metab. 2016 Apr;117(4):447-55. doi: 10.1016/j.ymgme.2016.02.001. Epub 2016 Feb 3.
AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II
Ko AR11, Jin DK2, Cho SY3, Park SW4, Przybylska M5, Yew NS5, Cheng SH5, Kim JS6, Kwak MJ7, Kim SJ8, Sohn YB9.
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Mol Pharm. 2015 Oct 5;12(10):3759-65. doi: 10.1021/acs.molpharmaceut.5b00550. Epub 2015 Sep 21.
Pharmacokinetics, Pharmacodynamics, and Efficacy of a Novel Long-Acting Human Growth Hormone: Fc Fusion Protein
Kim SJ11, Kwak HH2, Cho SY3, Sohn YB4, Park SW5, Huh R3, Kim J3, Ko AR6, Jin DK3.
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HONG KONG JOURNAL OF PAEDIATRICS, OCT 2015, 20(4):226-234
Growth Hormone Modulates mRNA Expression of the GABA(B1) Receptor Subunit and GH/IGF Axis Genes in a Mouse Model of Prader-Willi Syndrome
Lee JY1, Kang JY, Lee SY, Cho SY, Jin DK
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Orphanet J Rare Dis. 2015 Oct 31;10:141. doi: 10.1186/s13023-015-0356-0.
Effect of systemic high dose enzyme replacement therapy on the improvement of CNS defects in a mouse model of mucopolysaccharidosis type II
Cho SY11, Lee J1, Ko AR2, Kwak MJ3, Kim S4, Sohn YB5, Park SW6, Jin DK7.
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Orphanet J Rare Dis. 2015 Sep 25;10:121. doi: 10.1186/s13023-015-0337-3.
Decreased performance in IDUA knockout mouse mimic limitations of joint function and locomotion in patients with Hurler syndrome
Kim C11,2, Kwak MJ3, Cho SY4, Ko AR1, Rheey J5, Kwon JY6, Chung Y7, Jin DK8.
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J Korean Med Sci. 2015 Jul;30(7):911-6. doi: 10.3346/jkms.2015.30.7.911. Epub 2015 Jun 10.
Disease-specific Growth Charts of Marfan Syndrome Patients in Korea
Kwun Y11, Kim SJ2, Lee J1, Isojima T3, Choi DS4, Kim DK5, Huh J1, Kang IS1, Chang M1, Cho SY1, Sohn YB6, Park SW7, Jin DK1.
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Ann Clin Lab Sci. 2015 Summer;45(4):458-61.
Letter to the Editor: A Novel Mutation in the CREBBP Gene of a Korean Girl with Rubinstein-Taybi syndrome
Huh R11, Cho SY1, Kim J1, Ki CS2, Jin DK3.
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Ann Clin Lab Sci. 2015 Spring;45(2):215-8.
Hypoparathyroidism in a 3-year-old Korean Boy with Sotos Syndrome and a Novel Mutation in NSD1
Wejaphikul K11, Cho SY2, Huh R2, Kwun Y2, Lee J2, Ki CS3, Jin DK4.
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Mol Genet Metab. 2015 Feb;114(2):156-60. doi: 10.1016/j.ymgme.2014.08.009. Epub 2014 Aug 30.
Safety and efficacy of enzyme replacement therapy with idursulfase beta in children aged younger than 6 years with Hunter syndrome
Sohn YB11, Cho SY2, Lee J2, Kwun Y2, Huh R2, Jin DK3.
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Hum Mutat. 2015 Feb;36(2):191-5. doi: 10.1002/humu.22731.
Identification and In Vivo Functional Characterization of Novel Compound Heterozygous BMP1 Variants in Osteogenesis Imperfecta
Cho SY11, 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.
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Am J Med Genet A. 2015 Jan;167A(1):86-94. doi: 10.1002/ajmg.a.36816. Epub 2014 Oct 22.
Disease-Specific Growth Charts for Korean Infants with Prader-Willi Syndrome
Lee J11, Isojima T, Chang MS, Kwun YH, Huh R, Cho SY, Sohn YB, Jin DK.
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Cell Signal. 2014 Nov;26(11):2446-59. doi: 10.1016/j.cellsig.2014.07.025. Epub 2014 Jul 24.
Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis
Kaname T11, Ki CS2, Niikawa N3, Baillie GS4, Day JP5, Yamamura K6, Ohta T7, Nishimura G8, Mastuura N9, Kim OH10, Sohn YB11, Kim HW12, Cho SY13, Ko AR14, Lee JY14, Kim HW15, Ryu SH16, Rhee H17, Yang KS17, Joo K18, Lee J19, Kim CH20, Cho KH21, Kim D21, Yanagi K1, Naritomi K1, Yoshiura K22, Kondoh T23, Nii E24, Tonoki H25, Houslay MD26, Jin DK27.
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