삼성서울병원

Ko En

소아청소년과 진동규 교수

진료분야
저신장, 성조숙, 소아비만, 당뇨병, 요붕증, 터너 증후군, 저칼슘혈증, 갑상선질환, 선천성대사질환, 프레더월리증후군, 연골무형성증
진료일정 04 月
날짜
01
02
03
04
05
06
07
08
09
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
오전
오후
진료일정 05 月
날짜
01
02
03
04
05
06
07
08
09
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
오전
오후

학력

학력
1993.02 서울대학교 대학원 의학과 (박사)
1987.02 서울대학교 대학원 의학과 (석사)
1984.02 서울대학교 의과대학 졸업 (의학사)

경력

경력
2001.04 ~현재 성균관의과대학교 교수
2001.01 ~현재 임상의학연구소 종합연구부장
2013.0801 ~ 2017.03 삼성서울병원 소아청소년센터장
2011.0901 ~ 2013.08 성균관대학교 의과대학 소아과학교실 주임교수
2011.1110 ~ 2013.07 삼성서울병원 소아청소년과장
2003.03 ~ 2005.02 임상의학연구소 종합실험부 센터장
1993.01 ~ 1994.04 University of Minnesota. 연구의사
1990.03 ~ 1993.01 Tokyo. National Children's Medical Research Center. Department of Immunology 부실장
1990.04 ~ 1992.12 국립소아병원연구원
1989.03 ~ 1990.03 서울대학병원 소아신장 Fellow
1985.02 ~ 1988.02 서울대학병원 소아과 레지던트

학회활동

학회활동
2015.05 ~ 현재 뮤코다당증연구학회 회장
2014.06 ~ 현재 대한 유전성대사질환학회 회장
  • 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
    View PubMed
  • ORPHANET J RARE DIS 2019 10.1186/s13023-019-1195-1 Effects of recombinant human growth hormone treatment on growth, body composition, and safety in infants or toddlers with Prader-Willi syndrome: a randomized, active-controlled trial Yang1, A; Choi, JH; Sohn, YB; Eom, Y; Lee, J; Yoo, HW; Jin, DK
    View PubMed
  • 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
    View PubMed
  • 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
    View PubMed
  • 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
    View PubMed
  • 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
    View PubMed
  • 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
    View PubMed
  • 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
    View PubMed
  • HORM RES PAEDIAT 2018 10.1159/000491016 Effect of Growth Hormone Therapy on Height Velocity in Korean Children with Idiopathic Short Stature: A Phase III Randomised Controlled Trial Chung1, WY; Yoo, HW; Hwang, JS; Ko, CW; Kim, HS; Jin, DK; Lee, KH; Han, HS; Paranchothy, P; Suh, BK
    View PubMed
  • HORM RES PAEDIAT 2018 10.1159/000489262 Once-Weekly Administration of Sustained-Release Growth Hormone in Korean Prepubertal Children with Idiopathic Short Stature: A Randomized, Controlled Phase II Study Hwang1, JS; Lee, HS; Lee, KH; Yoo, HW; Lee, DY; Suh, BK; Ko, CW; Chung, WY; Jin, DK; Shin, CH; Han, HS; Han, S; Kim, HS
    View PubMed
  • 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
    View PubMed
  • 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
    View PubMed
  • Pharmaceutics 2018 10.3390/pharmaceutics10020069 A Liquid Chromatography-Quadrupole-Time-of-Flight Mass Spectrometric Assay for the Quantification of Fabry Disease Biomarker Globotriaosylceramide (GB3) in Fabry Model Mouse Shin1, SH; Park, MH; Byeon, JJ; Lee, BI; Park, Y; Ko, AR; Seong, MR; Lee, S; Kim, MR; Seo, J; Jung, ME; Jin, DK; Shin, YG
    View PubMed
  • 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
    View PubMed
  • 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
    View PubMed
  • 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
    View PubMed
  • 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
    View PubMed
  • 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.
    View PubMed
  • 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.
    View PubMed
  • 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.
    View PubMed
  • 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.
    View PubMed
  • 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.
    View PubMed
  • 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.
    View PubMed
  • J Korean Med Sci. 2016 Feb;31(2):275-9. doi: 10.3346/jkms.2016.31.2.275. Epub 2016 Jan 26. Estrogen-mediated Height Control in Girls with Marfan Syndrome Lee DY11, Hyun HS1, Huh R2, Jin DK2, Kim DK3, Yoon BK1, Choi D1.
    View PubMed
  • Am J Med Genet A. 2016 Feb;170A(2):426-34. doi: 10.1002/ajmg.a.37463. Epub 2015 Nov 14. Acromesomelic dysplasia, type maroteaux caused by novel loss-of-function mutations of the NPR2 gene: Three case reports Wang W11, Song MH2, Miura K1, Fujiwara M1, Nawa N1, Ohata Y1, Kitaoka T1, Kubota T1, Namba N1, Jin DK3, Kim OH4, Ozono K1, Cho TJ5.
    View PubMed
  • 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.
    View PubMed
  • 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.
    View PubMed
  • 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
    View PubMed
  • Ann Lab Med. 2015 Sep;35(5):535-9. doi: 10.3343/alm.2015.35.5.535. CYP21A2 Mutation Analysis in Korean Patients With Congenital Adrenal Hyperplasia Using Complementary Methods: Sequencing After Long-Range PCR and Restriction Fragment Length Polymorphism Analysis With Multiple Ligation-Dependent Probe Amplification Assay Hong G11, Park HD2, Choi R1, Jin DK3, Kim JH4, Ki CS1, Lee SY1, Song J5, Kim JW1.
    View PubMed
  • 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.
    View PubMed
  • 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.
    View PubMed
  • 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.
    View PubMed
  • Mol Genet Metab. 2015 May;115(1):41-7. doi: 10.1016/j.ymgme.2015.03.005. Epub 2015 Mar 26. Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI) Choy YS11, Bhattacharya K2, Balasubramaniam S3, Fietz M4, Fu A5, Inwood A6, Jin DK7, Kim OH8, Kosuga M9, Kwun YH7, Lin HY10, Lin SP10, Mendelsohn NJ11, Okuyama T9, Samion H12, Tan A13, Tanaka A14, Thamkunanon V15, Thong MK16, Toh TH17, Yang AD18, McGill J6.
    View PubMed
  • Ann Clin Lab Sci. 2015 Spring;45(3):344-7. Spinal Stenosis with Paraparesis in a Korean Boy with Albright's Hereditary Osteodystrophy: Identification of a Novel Nonsense Mutation in the GNAS Lee SH11, Mun SH1, Cho SY2, Kim YJ3, Jin DK2, Ki CS4, Lee JE5.
    View PubMed
  • Eur J Med Genet. 2015 Mar;58(3):175-9. doi: 10.1016/j.ejmg.2014.12.011. Epub 2014 Dec 24. Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene Park H11, Hong S1, Cho SI1, Cho TJ2, Choi IH2, Jin DK3, Sohn YB4, Park SW3, Cho HH5, Cheon JE5, Kim SY6, Kim JY7, Park SS8, Seong MW9.
    View PubMed
  • 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.
    View PubMed
  • 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.
    View PubMed
  • 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.
    View PubMed
  • Ann Clin Lab Sci. 2015 Winter;45(1):90-3. A Novel Splice Site Mutation in the PAX6 Gene in a Korean Family with Isolated Aniridia Chang MS11, Han JC2, Lee J1, Kwun Y1, Huh R1, Ki CS3, Kee C2, Cho SY4, Jin DK5.
    View PubMed
  • Ann Clin Lab Sci. 2015 Winter;45(1):100-5. Osteogenesis Imperfecta Type I Caused by a Novel Mutation in the Start Codon of the COL1A1 Gene in a Korean Family Cho SY11, Lee JH2, Ki CS3, Chang MS4, Jin DK4, Han HS5.
    View PubMed
  • 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.
    View PubMed
  • Orphanet J Rare Dis. 2014 Nov 30;9:192. doi: 10.1186/s13023-014-0192-7. Overcoming the barriers to diagnosis of Morquio A syndrome Bhattacharya K11, Balasubramaniam S2, Choy YS3, Fietz M4, Fu A5, Jin DK6, Kim OH7, Kosuga M8, Kwun YH9, Inwood A10, Lin HY11, McGill J12, Mendelsohn NJ13, Okuyama T14, Samion H15, Tan A16, Tanaka A17, Thamkunanon V18, Toh TH19, Yang AD20, Lin SP21.
    View PubMed
  • 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.
    View PubMed
  • Am J Med Genet A. 2014 Oct;164A(10):2529-34. doi: 10.1002/ajmg.a.36669. Epub 2014 Jul 10. Acroscyphodysplasia as a Phenotypic Variation of Pseudohypoparathyroidism and Acrodysostosis type 2 Mitsui T11, Kim OH, Hall CM, Offiah A, Johnson D, Jin DK, Toh TH, Soneda S, Keino D, Matsubayashi S, Ishii T, Nishimura G, Hasegawa T.
    View PubMed
  • BMC Med Genet. 2014 Aug 15;15:94. doi: 10.1186/s12881-014-0094-5. Novel GALT variations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activity Choi R1, Jo KI, Ko DH, Lee DH, Song J, Jin DK, Ki CS, Lee SY, Kim JW, Lee YW1, Park HD.
    View PubMed
  • Mol Genet Metab. 2014 Jul;112(3):218-23. doi: 10.1016/j.ymgme.2014.04.005. Epub 2014 Apr 30. 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 SC11, Lee J2, Jin DK3, Kim JS4, Jeon ES1, Kwun YH2, Chang MS2, Ko AR5, Yook YJ5, Sohn YB6.
    View PubMed
  • Genet Couns. 2014;25(2):215-20. A CASE REPORT OF RARE XXY/XX MOSAICISM IN A PHENOTYPIC MALE WITH KLINEFELTER SYNDROME AND MEDIASTINAL GERM CELL TUMOR Song JS1, Lee SH, Jin DK, Kim SH.
    View PubMed
  • Glycoconj J. 2014 May;31(4):309-15. doi: 10.1007/s10719-014-9523-0. Epub 2014 Apr 30. A biochemical and physicochemical comparison of two recombinant enzymes used for enzyme replacement therapies of hunter syndrome Chung YK11, Sohn YB, Sohn JM, Lee J, Chang MS, Kwun Y, Kim CH, Lee JY, Yook YJ, Ko AR, Jin DK.
    View PubMed
  • Ann Clin Lab Sci. 2014 Spring;44(2):213-6. A Korean Patient with Glutaric Aciduria Type 1 with a Novel Mutation in the Glutaryl CoA Dehydrogenase Gene Kim HS11, Yu HJ, Lee J, Park HD, Kim JH, Shin HJ, Jin DK, Lee M.
    View PubMed
  • Skeletal Radiol. 2014 Mar;43(3):359-69. doi: 10.1007/s00256-013-1797-y. Epub 2014 Jan 4. Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnose Lachman RS11, Burton BK, Clarke LA, Hoffinger S, Ikegawa S, Jin DK, Kano H, Kim OH, Lampe C, Mendelsohn NJ, Shediac R, Tanpaiboon P, White KK.
    View PubMed
  • J Korean Med Sci. 2014 Feb;29(2):254-60. doi: 10.3346/jkms.2014.29.2.254. Epub 2014 Jan 28. Impact of Enzyme Replacement Therapy on Linear Growth in Korean Patients with Mucopolysaccharidosis Type II (Hunter Syndrome) Cho SY11, Huh R2, Chang MS2, Lee J2, Kwun Y2, Maeng SH2, Kim SJ3, Sohn YB4, Park SW5, Kwon EK2, Han SJ2, Jung J2, Jin DK2.
    View PubMed
  • Am J Hum Genet. 2014 Jan 2;94(1):105-12. doi: 10.1016/j.ajhg.2013.11.018. Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy Hoover-Fong J11, Sobreira N2, Jurgens J3, Modaff P4, Blout C5, Moser A6, Kim OH7, Cho TJ8, Cho SY9, Kim SJ10, Jin DK11, Kitoh H12, Park WY13, Ling H14, Hetrick KN14, Doheny KF14, Valle D15, Pauli RM4.
    View PubMed
  • J Hum Genet.?2013 Nov;58(11):728-33. doi: 10.1038/jhg.2013.92. Epub 2013 Sep 5. High-dose enzyme replacement therapy attenuates cerebroventriculomegaly in a mouse model of mucopolysaccharidosis type II Ahn SY11,?Chang YS,?Sung DK,?Ko AR,?Kim CH,?Yoo DK,?Lim KH,?Sohn YB,?Jin DK,?Park WS.
    View PubMed
  • Exp Clin Endocrinol Diabetes. 2013 Oct;121(9):539-45. doi: 10.1055/s-0033-1349867. Epub 2013 Oct 14. Clinical Characterization and Molecular Classification of 12 Korean Patients with Pseudohypoparathyroidism and Pseudopseudohypoparathyroidism Cho SY11, 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.
    View PubMed
  • Eur J Endocrinol. 2013 Jul 6;169(2):179-85. doi: 10.1530/EJE-13-0148. Print 2013 Aug. Efficacy and safety of LB03002, a once-weekly sustained-release human GH for 12-month treatment in Korean children with GH deficiency Hwang JS11, Lee HS, Chung WY, Han HS, Jin DK, Kim HS, Ko CW, Lee BC, Lee DY, Lee KH, Shin JH, Suh BK, Yoo HW, Ji HJ, Lee JH, Bae YJ, Kim DH, Yang SW.
    View PubMed
  • Am J Med Genet A. 2013 Aug;161A(8):1972-9. doi: 10.1002/ajmg.a.36024. Epub 2013 Jun 26. Osteogenesis Imperfecta Type V: Clinical and Radiographic Manifestations in Mutation Confirmed Patients Kim OH11, Jin DK, Kosaki K, Kim JW, Cho SY, Yoo WJ, Choi IH, Nishimura G, Ikegawa S, Cho TJ.
    View PubMed
  • J Korean Med Sci. 2013 Jul;28(7):1107-10. doi: 10.3346/jkms.2013.28.7.1107. Epub 2013 Jul 3. Osteogenesis Imperfecta Type VI with Severe Bony Deformities Caused by Novel Compound Heterozygous Mutations in SERPINF1 Cho SY11, Ki CS, Sohn YB, Kim SJ, Maeng SH, Jin DK.
    View PubMed
  • Allergy. 2013 Jun;68(6):796-802. doi: 10.1111/all.12155. Epub 2013 Apr 29. IgE-mediated anaphylaxis and allergic reactions to idursulfase in patients with Hunter syndrome Kim J11, Park MR, Kim DS, Lee JO, Maeng SH, Cho SY, Han Y, Ahn K, Jin DK.
    View PubMed
  • Am J Med Genet A. 2013 May;161A(5):1036-43. doi: 10.1002/ajmg.a.35869. Epub 2013 Mar 25. Improvement of CNS Defects Via Continuous Intrathecal Enzyme Replacement by Osmotic Pump in Mucopolysaccharidosis Type II Mice Sohn YB11, Lee J, Cho SY, Kim SJ, Ko AR, Nam MH, Jin DK.
    View PubMed
  • A Novel Mutation (c.200T > C) in the NAGLU Gene of a Korean Patient with Mucopolysaccharidosis IIIB A Novel Mutation (c.200T > C) in the NAGLU Gene of a Korean Patient with Mucopolysaccharidosis IIIB 1,A Novel Mutation (c.200T > C) in the NAGLU Gene of a Korean Patient with Mucopolysaccharidosis IIIB
    View PubMed
  • J Hum Genet. 2013 Mar;58(3):150-4. doi: 10.1038/jhg.2012.148. Epub 2013 Jan 10. The proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea Cho SY11, Ki CS, Sohn YB, Maeng SH, Jung YJ, Kim SJ, Jin DK.
    View PubMed
  • Orphanet J Rare Dis. 2013 Mar 18;8:42. doi: 10.1186/1750-1172-8-42. Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter Syndrome) Sohn YB11, Cho SY, Park SW, Kim SJ, Ko AR, Kwon EK, Han SJ, Jin DK.
    View PubMed
  • Am J Med Genet A. 2013 Mar;161A(3):509-17. doi: 10.1002/ajmg.a.35298. Epub 2013 Feb 8. Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA Park HD11, Ko AR, Ki CS, Lee SY, Kim JW, Cho SY, Kim SH, Park SW, Sohn YB, Jin DK.
    View PubMed
  • Br J Ophthalmol. 2013 Mar;97(3):367-70. doi: 10.1136/bjophthalmol-2012-302307. Epub 2012 Dec 19. Intravitreal human complement factor H in a rat model of laser-induced choroidal neovascularisation Kim SJ11, Kim J, Lee J, Cho SY, Kang HJ, Kim KY, Jin DK.
    View PubMed
  • Clin Endocrinol (Oxf). 2013 Feb;78(2):317-20. doi: 10.1111/j.1365-2265.2012.04514.x. Genetic investigation of patients with undetectable peaks of growth hormone after two provocation tests Cho SY1, Ki CS, Park HD, Kim SJ, Sohn YB, Maeng SH, Jung YJ, Jin DK.
    View PubMed
  • Ann Lab Med. 2013 Jan;33(1):75-9. doi: 10.3343/alm.2013.33.1.75. Epub 2012 Dec 17. The First Korean Case of Mucopolysaccharidosis IIIC (Sanfilippo Syndrome Type C) Confirmed by Biochemical and Molecular Investigation Huh HJ11, Seo JY, Cho SY, Ki CS, Lee SY, Kim JW, Park HD, Jin DK.
    View PubMed
  • Am J Med Genet A. 2012 Sep;158A(9):2131-8. doi: 10.1002/ajmg.a.35498. Epub 2012 Jul 27. Auditory Characteristics and Therapeutic Effects of Enzyme Replacement in Mouse Model of the Mucopolysaccharidosis (MPS) II Hong SH11, Chu H, Kim KR, Ko MH, Kwon SY, Moon IJ, Chung WH, Cho YS, Kim CH, Suh MW, Choi EW, Sohn YB, Park SW, Kim SH, Cho SY, Ko AR, Jin DK.
    View PubMed
  • Ann Clin Lab Sci. 2012 Summer;42(3):307-12. Clinical, Biochemical, and Genetic Analysis of Two Korean Patients with Trichorhinophalangeal Syndrome Type I and Growth Hormone Deficiency Sohn YB11, Ki CS, Park SW, Cho SY, Ko AR, Kwon MJ, Kim JY, Park HD, Kim OH, Jin DK.
    View PubMed
  • Am J Med Genet A. 2012 Jun;158A(6):1462-6. doi: 10.1002/ajmg.a.35357. Epub 2012 May 11. Familial Xp22.33-Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short stature Cho SY11, Ki CS, Jang JH, Sohn YB, Park SW, Kim SH, Kim SJ, Jin DK.
    View PubMed
  • Am J Med Genet A. 2012 May;158A(5):1158-63. doi: 10.1002/ajmg.a.35263. Epub 2012 Apr 11. Enzyme replacement therapy improves joint motion and outcome of the 12-min walk test in a mucopolysaccharidosis type VI patient previously treated with bone marrow transplantation Sohn YB11, Park SW, Kim SH, Cho SY, Ji ST, Kwon EK, Han SJ, Oh SJ, Park YJ, Ko AR, Paik KH, Lee J, Lee DH, Jin DK.
    View PubMed
  • J Korean Med Sci. 2012 May;27(5):565-8. doi: 10.3346/jkms.2012.27.5.565. Epub 2012 Apr 25. Two Novel Insulin Receptor Gene Mutations in a Patient with Rabson-Mendenhall Syndrome: The First Korean Case Confirmed by Biochemical, and Molecular Evidence Kim D11, Cho SY, Yeau SH, Park SW, Sohn YB, Kwon MJ, Kim JY, Ki CS, Jin DK.
    View PubMed
  • J Child Neurol. 2012 Mar;27(3):319-24. doi: 10.1177/0883073811420295. Epub 2011 Sep 22. Infantile Pompe Disease: Clinical and Genetic Characteristics With an Experience of Enzyme Replacement Therapy Cho A11, Kim SJ, Lim BC, Hwang H, Park JD, Kim GB, Jin DK, Lee J, Ki CS, Kim KJ, Hwang YS, Chae JH.
    View PubMed
  • Clin Genet. 2012 Feb;81(2):185-90. doi: 10.1111/j.1399-0004.2011.01641.x. Epub 2011 Feb 24. Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II Sohn YB11, Ki CS, Kim CH, Ko AR, Yook YJ, Lee SJ, Kim SJ, Park SW, Yeau S, Kwon EK, Han SJ, Choi EW, Lee SY, Kim JW, Jin DK.
    View PubMed
  • Am J Med Genet A. 2012 Jan;158A(1):90-6. doi: 10.1002/ajmg.a.34371. Epub 2011 Nov 21. Retrospective Analysis of the Clinical Manifestations and Survival of Korean Patients With Mucopolysaccharidosis Type II: Emphasis on the Cardiovascular Complication and Mortality Cases Sohn YB11, Choi EW, Kim SJ, Park SW, Kim SH, Cho SY, Jeong SI, Huh J, Kang IS, Lee HJ, Paik KH, Jin DK.
    View PubMed
  • Ann Clin Lab Sci. 2012 Winter;42(1):89-93. A Korean Patient with Morquio B Disease with a Novel c.13_14insA Mutation in the GLB1 gene Sohn YB11, Park HD, Park SW, Kim SH, Cho SY, Ko AR, Ki CS, Yeau S, Jin DK.
    View PubMed
  • Clin Genet. 2012 Jan;81(1):96-8. doi: 10.1111/j.1399-0004.2011.01704.x. Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency Cho SY1, Park HD, Lee YW, Ki CS, Lee SY, Sohn YB, Park SW, Kim SH, Ji S, Kim SJ, Choi EW, Kim CH, Ko AR, Paik KH, Lee DH, Jin DK.
    View PubMed
  • Am J Med Genet A. 2011 Dec;155A(12):2970-3. doi: 10.1002/ajmg.a.34309. Epub 2011 Nov 3. A polymorphism in the growth hormone receptor is associated with height in children with Prader-Willi syndrome Park SW11, Lee ST, Sohn YB, Kim SH, Cho SY, Ko AR, Ji ST, Kwon JY, Yeau S, Paik KH, Kim JW, Jin DK.
    View PubMed
  • Am J Med Genet A. 2011 Jun;155A(6):1329-35. doi: 10.1002/ajmg.a.34013. Epub 2011 May 12. High Prevalence of Carpal Tunnel Syndrome in Children With Mucopolysaccharidosis Type II (Hunter Syndrome) Kwon JY11, Ko K, Sohn YB, Kim SJ, Park SW, Kim SH, Cho SY, Jin DK.
    View PubMed
  • Hum Genet. 2011 May;129(5):497-502. doi: 10.1007/s00439-011-0947-3. Epub 2011 Jan 9. Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia Kim SJ11, Bieganski T, Sohn YB, Kozlowski K, Semenov 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.
    View PubMed
  • Ann Clin Lab Sci. 2011 Spring;41(2):182-7. Two Novel PEX1 Mutations in a Patient with Zellweger Syndrome: The First Korean Case Confirmed by Biochemical, and Molecular Evidence Cho SY11, Chang YP, Park JY, Park HD, Sohn YB, Park SW, Kim SH, Ji S, Kim SJ, Choi EW, Kim CH, Ko AR, Paik KH, Jin DK.
    View PubMed
  • Pediatr Nephrol. 2011 Mar;26(3):433-40. doi: 10.1007/s00467-010-1678-8. Epub 2010 Nov 11. Serum cystatin C for estimation of residual renal function in children on peritoneal dialysis Kim SJ11, Sohn YB, Park SW, Jin DK, Paik KH.
    View PubMed
  • Yonsei Med J. 2011 Mar;52(2):257-62. doi: 10.3349/ymj.2011.52.2.257. Delayed Response of Amylin Levels after an Oral Glucose Challenge in Children with Prader-Willi Syndrome Lee HJ11, Choe YH, Lee JH, Sohn YB, Kim SJ, Park SW, Son JS, Kim SW, Jin DK.
    View PubMed
  • Yonsei Med J. 2011 Mar;52(2):263-7. doi: 10.3349/ymj.2011.52.2.263. Changes in Glycogen and Glycosaminoglycan Levels in Hepatocytes of Iduronate-2-Sulfatase Knockout Mice before and after Recombinant Iduronate-2-Sulfatase Supplementation Lee JH11, Choe YH, Kim SJ, Paik KH, Jin DK.
    View PubMed
  • Ann Clin Lab Sci. 2011 Fall;41(1):84-8. Mutations of ACADS Gene Associated with Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency Kim SH11, Park HD, Sohn YB, Park SW, Cho SY, Ji S, Kim SJ, Choi EW, Kim CH, Ko AR, Yeau S, Paik KH, Jin DK.
    View PubMed
  • Am J Med Genet A. 2010 Dec;152A(12):3129-32. doi: 10.1002/ajmg.a.33589. A Mother and Daughter With the p.R443X Mutation of Mucopolysaccharidosis Type II: Genotype and Phenotype Analysis Sohn YB11, Kim SJ, Park SW, Park HD, Ki CS, Kim CH, Huh SW, Yeau S, Paik KH, Jin DK.
    View PubMed
  • J Med Genet. 2010 Oct;47(10):704-9. doi: 10.1136/jmg.2009.075358. Epub 2010 Jun 24. Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family Dai J11, Kim OH, Cho TJ, Schmidt-Rimpler M, Tonoki H, Takikawa K, Haga N, Miyoshi K, Kitoh H, Yoo WJ, Choi IH, Song HR, Jin DK, Kim HT, Kamasaki H, Bianchi P, Grigelioniene G, Nampoothiri S, Minagawa M, Miyagawa SI, Fukao T, Marcelis C, Jansweijer MC, Hennekam RC, Bedeschi F, Mustonen A, Jiang Q, Ohashi H, Furuichi T, Unger S, Zabel B, Lausch E, Superti-Furga A, Nishimura G, Ikegawa S.
    View PubMed
  • Endocrinology. 2010 Sep;151(9):4418-27. doi: 10.1210/en.2010-0152. Epub 2010 Jul 7. Differential Effects of Insufflated, Subcutaneous, and Intravenous Growth Hormone on Bone Growth, Cognitive Function, and NMDA Receptor Subunit Expression Park SW11, Shin S, Kim CH, Ko AR, Kwak MJ, Nam MH, Park SY, Kim SJ, Sohn YB, Galinsky RE, Kim H, Yeo Y, Jin DK.
    View PubMed
  • Ann Clin Lab Sci. 2010 Summer;40(3):261-6. Clinical, Biochemical, and Genetic Analysis of Korean Patients with Pseudohypoparathyroidism Type Ia Park CH11, Park HD, Lee SY, Kim JW, Sohn YB, Park SW, Jin DK.
    View PubMed
  • Mol Cells. 2010 Jul;30(1):13-8. doi: 10.1007/s10059-010-0083-2. Epub 2010 Jul 14. Characterization of a novel mucopolysaccharidosis type II mouse model and recombinant AAV2/8 vector-mediated gene therapy Jung SC11, Park ES, Choi EN, Kim CH, Kim SJ, Jin DK.
    View PubMed
  • Yonsei Med J. 2010 May;51(3):339-44. doi: 10.3349/ymj.2010.51.3.339. Correlation between Hyperghrelinemia and Carotid Artery Intima-Media Thickness in Children with Prader-Willi Syndrome Kim SJ11, Paik KH, Kim DI, Choe YH, Kim SW, Jin DK.
    View PubMed
  • J Sleep Res. 2010 Mar;19(1 Pt 2):248-54. doi: 10.1111/j.1365-2869.2009.00786.x. Epub 2009 Nov 11. Plasma adiponectin level and sleep structures in children with Prader-Willi syndrome Joo EY11, Hong SB, Sohn YB, Kwak MJ, Kim SJ, Choi YO, Kim SW, Paik KH, Jin DK.
    View PubMed
  • J Clin Endocrinol Metab. 2010 Mar;95(3):1371-7. doi: 10.1210/jc.2009-1489. Epub 2010 Jan 8. Correlation of Adiponectin Receptor Expression with Cytokines and Insulin Sensitivity in Growth Hormone (GH)-Treated Children with Prader-Willi Syndrome and in Non-GH-Treated Obese Children Sohn YB11, Kwak MJ, Kim SJ, Park SW, Kim CH, Kim MY, Kwon EK, Paik KH, Jin DK.
    View PubMed
  • Mol Cells. 2010 Jan;29(1):63-9. doi: 10.1007/s10059-010-0017-z. Epub 2009 Dec 18. Downregulation of Wnt-Mediated ROS generation is causally implicated in leprechaunism Park JW11, Kuehn HS, Kim SY, Chung KM, Choi H, Kim M, Kim J, Lee SY, Bae DS, Jin DK, Bae YS.
    View PubMed
  • Mol Diagn Ther. 2009 Dec 1;13(6):397-405. doi: 10.2165/11530580-000000000-00000. Genotyping of CYP21A2 for Congenital Adrenal Hyperplasia Screening using Allele-Specific Primer Extension followed by Bead Array Hybridization Oh Y11, Park SW, Chun SM, Lim N, Ahn KS, Ka JO, Jin DK, Han BD.
    View PubMed
  • J Korean Med Sci. 2009 Aug;24(4):729-36. doi: 10.3346/jkms.2009.24.4.729. Epub 2009 Jul 30. Comparative Study of the Effects of Different Growth Hormone Doses on Growth and Spatial Performance of Hypophysectomized Rats Kwak MJ11, Park HJ, Nam MH, Kwon OS, Park SY, Lee SY, Kim MJ, Kim SJ, Paik KH, Jin DK.
    View PubMed
  • Pediatr Nephrol. 2009 May;24(5):1089-90. doi: 10.1007/s00467-008-1081-x. Epub 2008 Dec 19. Chronic peritoneal dialysis in a 4-year-old boy with Lesch-Nyhan disease Kim SJ1, Sohn YB, Park SW, Jin DK, Paik KH.
    View PubMed
  • Dig Surg. 2009;26(2):143-8. doi: 10.1159/000207507. Epub 2009 Mar 11. Serum Obestatin/Ghrelin Ratio Is Altered in Patients after Distal Gastrectomy Kim S11, Lee JH, Heo JS, Kwak MJ, Kim SJ, Sohn YB, Kim SE, Song SY, Choe YH, Baek JW, Rha MY, Oh YJ, Jin DK.
    View PubMed
  • Audiol Neurootol. 2008;13(3):206-12. doi: 10.1159/000113511. Epub 2008 Jan 22. Otologic manifestations of Hunter syndrome and their relationship with speech development Cho YS11, Kim JH, Kim TW, Chung SC, Chang SA, Jin DK.
    View PubMed
  • J Korean Med Sci. 2007 Jun;22(3):436-41. Peptide YY, cholecystokinin, insulin and ghrelin response to meal did not change, but mean serum levels of insulin is reduced in children with Prader-Willi syndrome Paik KH11, Jin DK, Lee KH, Armstrong L, Lee JE, Oh YJ, Kim S, Kwon EK, Choe YH.
    View PubMed
  • J Korean Med Sci. 2007 Apr;22(2):177-82. Marked suppression of ghrelin concentration by insulin in Prader-Willi syndrome Paik KH11, Lee MK, Jin DK, Kang HW, Lee KH, Kim AH, Kim C, Lee JE, Oh YJ, Kim S, Han SJ, Kwon EK, Choe YH.
    View PubMed
  • Pediatr Nephrol. 2007 Mar;22(3):389-95. Epub 2006 Oct 21. Primary focal segmental glomerular sclerosis in children: clinical course and prognosis Paik KH11, Lee BH, Cho HY, Kang HG, Ha IS, Cheong HI, Jin DK, Moon KC, Choi Y.
    View PubMed
  • J Clin Endocrinol Metab. 2007 Jan;92(1):229-34. Epub 2006 Oct 17. Obestatin is not elevated or correlated with insulin in children with Prader-Willi syndrome Park WH11, Oh YJ, Kim GY, Kim SE, Paik KH, Han SJ, Kim AH, Chu SH, Kwon EK, Kim SW, Jin DK.
    View PubMed
  • J Nucl Med. 2006 Jul;47(7):1088-92. Regional cerebral glucose metabolic abnormality in Prader-Willi syndrome: A F-18-FDG PET study under sedation Kim SE11, Jin DK, Cho SS, Kim JH, Hong SD, Paik KH, Oh YJ, Kim AH, Kwon EK, Choe YH.
    View PubMed
  • J Clin Endocrinol Metab. 2006 May;91(5):1876-81. Epub 2006 Feb 28. Suppression of acylated ghrelin during oral glucose test is correlated with whole-body insulin sensitivity in children with Prader-Willi syndrome Paik KH11, Choe YH, Park WH, Oh YJ, Kim AH, Chu SH, Kim SW, Kwon EK, Han SJ, Shon WY, Jin DK.
    View PubMed
  • Clin Genet. 2005 Dec;68(6):561-3. Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys-Dietz aortic aneurysm syndrome; no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome Ki CS1, Jin DK, Chang SH, Kim JE, Kim JW, Park BK, Choi JH, Park IS, Yoo HW.
    View PubMed
  • Hum Mutat. 2005 Oct;26(4):308-14. Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolliplidoslis type II or type IIIA Paik KH11, Song SM, Ki CS, Yu HW, Kim JS, Min KH, Chang SH, Yoo EJ, Lee IJ, Kwan EK, Han SJ, Jin DK.
    View PubMed
  • J Clin Endocrinol Metab. 2005 Sep;90(9):5441-5. Epub 2005 Jun 14. Increased density of ghrelin-expressing cells in the gastric fundus and body in Prader-Willi syndrome Choe YH11, Song SY, Paik KH, Oh YJ, Chu SH, Yeo SH, Kwon EK, Kim EM, Rha MY, Jin DK.
    View PubMed
  • J Clin Endocrinol Metab. 2005 Jun;90(6):3367-70. Epub 2005 Jan 18. Hyperghrelinemia does not accelerate gastric emptying in Prader-Willi syndrome patients Choe YH11, Jin DK, Kim SE, Song SY, Paik KH, Park HY, Oh YJ, Kim AH, Kim JS, Kim CW, Chu SH, Kwon EK, Lee KH.
    View PubMed
  • Clin Genet. 2004 Dec;66(6):575-6. Mutational analysis of the alpha-L-iduronidase gene in 10 unrelated Korean type I mucopolysaccharidosis patients: Identification of four novel mutations Lee IJ1, Hwang SH, Jeon BH, Song SM, Kim JS, Paik KH, Kwon EK, Jin DK.
    View PubMed
  • Pediatr Nephrol. 2004 Oct;19(10):1180-1. Epub 2004 Feb 21. Successful dialysis in a boy with methylmalonic acidemia Paik KH1, Lee JE, Jin DK.
    View PubMed
  • J Clin Endocrinol Metab. 2004 Aug;89(8):3885-9. Correlation between fasting plasma ghrelin levels and age, body mass index (BMI), BMI percentiles, and 24-hour plasma ghrelin profiles in Prader-Willi syndrome Paik KH11, Jin DK, Song SY, Lee JE, Ko SH, Song SM, Kim JS, Oh YJ, Kim SW, Lee SH, Kim SH, Kwon EK, Choe YH.
    View PubMed
  • Cell Mol Neurobiol. 2004 Feb;24(1):109-22. Expression of expanded polyglutamine protein induces behavioral changes in Drosophila (polyglutamine-induced changes in Drosophila) Kim YT11, Shin SM, Lee WY, Kim GM, Jin DK.
    View PubMed
  • Arch Neurol. 2003 Jun;60(6):858-63. Frequency analysis and clinical characterization of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Korean patients (vol 60, pg 858, 2003) Lee WY11, Jin DK, Oh MR, Lee JE, Song SM, Lee EA, Kim GM, Chung JS, Lee KH.
    View PubMed
  • Arch Neurol. 2003 Jun;60(6):858-63. Frequency analysis and clinical characterization of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Korean patients Lee WY11, Jin DK, Oh MR, Lee JE, Song SM, Lee EA, Kim GM, Chung JS, Lee KH.
    View PubMed
  • Hum Mol Genet. 2003 Mar 1;12(5):527-34. Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease Taniguchi K11, Kobayashi K, Saito K, Yamanouchi H, Ohnuma A, Hayashi YK, Manya H, Jin DK, Lee M, Parano E, Falsaperla R, Pavone P, Van Coster R, Talim B, Steinbrecher A, Straub V, Nishino I, Topaloglu H, Voit T, Endo T, Toda T.
    View PubMed
  • J Inherit Metab Dis. 2003;26(4):403-6. A case of mitochondrial trifunctional protein deficiency diagnosed by acylcarnitine profile and DNA analysis in a dried blood spot of a 4-day-old boy Lee JE11, Yoon HR, Paik KH, Hwang SJ, Shim JW, Chang YS, Park WS, Strauss AW, Jin DK.
    View PubMed
  • J Biotechnol. 2002 May 23;95(3):215-23. A simple method for the detection of neurologic disorders associated with CAG repeat expansion using PCR-microtiter plate hybridization Lee Y11, Oh MR, Kim CH, Hwang HZ, Kim JS, Song SM, Jin DK.
    View PubMed
  • Ren Fail. 2002 Sep;24(5):567-75. Cytokine expression in the renal tubular epithelial cells stimulated by shiga toxin 2 of Escherichia coli O157 : H7 Lee JE11, Kim JS, Choi IH, Tagawa M, Kohsaka T, Jin DK.
    View PubMed
  • J Affect Disord. 2001 Sep;66(1):19-24. CAG repeats of CTG18.1 and KCNN3 in Korean patients with bipolar affective disorder Jin DK11, Hwang HZ, Oh MR, Kim JS, Lee M, Kim S, Lim SW, Seo MY, Kim JH, Kim DK.
    View PubMed
  • Extremophiles. 2001 Jun;5(3):161-8. Molecular cloning and characterization of thermostable DNA ligase from Aquifex pyrophilus, a hyperthermophilic bacterium Lim JH11, Choi J, Han SJ, Kim SH, Hwang HZ, Jin DK, Ahn BY, Han YS.
    View PubMed
  • Ren Fail. 2001 Jan;23(1):21-9. Morphologic evaluation and integrin expression profile of renal tubular cells cultured from percutaneous renal biopsy specimen Kim JS11, Hwang HZ, Yeo SH, Ko SW, Song SM, Kim YK, Kim DJ, Oh HY, Choi HY, Kim MK, Toru S, Kohsaka T, Kim Y, Jin DK.
    View PubMed
  • Pediatr Int. 2000 Oct;42(5):488-91. Six novel mutations of the fibrillin-1 gene in Korean patients with Marfan syndrome Oh MR11, Kim JS, Beck NS, Yoo HW, Lee HJ, Kohsaka T, Jin DK.
    View PubMed
  • Mutat Res. 2000 Feb;432(1-2):39-45. Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease Kim UK11, Jin DK, Ahn C, Shin JH, Lee KB, Kim SH, Chae JJ, Hwang DY, Lee JG, Namkoong Y, Lee CC.
    View PubMed
  • Mutat Res. 2000 Feb;432(1-2):39-45. Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease Kim UK11, Jin DK, Ahn C, Shin JH, Lee KB, Kim SH, Chae JJ, Hwang DY, Lee JG, Namkoong Y, Lee CC.
    View PubMed
  • Horm Res. 1999;52(5):235-40. Activating mutation of GS alpha in McCune-Albright syndrome causes skim pigmentation by tyrosinase gene activation on affected melanocytes Kim IS11, Kim ER, Nam HJ, Chin MO, Moon YH, Oh MR, Yeo UC, Song SM, Kim JS, Uhm MR, Beck NS, Jin DK.
    View PubMed
  • Mol Cell Probes. 1999 Jun;13(3):247-50. Polymorphisms in the human autosomal dominant polycystic kidney disease 2 (PKD2) gene Kim UK11, Shin JH, Lee KB, Kim SH, Chae JJ, Hong SS, Jin DK, Namkoong Y, Lee CC.
    View PubMed
  • J Neurol. 1999 Mar;246(3):207-10. Frequency of spinocerebellar ataxia types 1, 2, 3, 6, 7 and dentatorubral pallidoluysian atrophy mutations in Korean patients with spinocerebellar ataxia Jin DK11, Oh MR, Song SM, Koh SW, Lee M, Kim GM, Lee WY, Chung CS, Lee KH, Im JH, Lee MJ, Kim JW, Lee MS.
    View PubMed
  • Ren Fail. 1999 Nov;21(6):685-94. Transcriptional regulation of PDGF-A and TGF-beta by +KTS WT1 deletion mutants and a mutant mimicking Denys-Drash syndrome Jin DK11, Kang SJ, Kim SJ, Bang EH, Hwang HZ, Tadokoro K, Yamada M, Kohsaka T.
    View PubMed
  • J Hum Genet. 1999;44(4):240-5. Genetic variations on the Y chromosome in the Japanese population and implications for modern human Y chromosome lineage Shinka T11, Tomita K, Toda T, Kotliarova SE, Lee J, Kuroki Y, Jin DK, Tokunaga K, Nakamura H, Nakahori Y.
    View PubMed