삼성서울병원

Ko En

진단검사의학과 김희진 교수

진료분야
진단혈액, 혈액유전학, 응고유전, 유전상담
진료일정 07 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
진료일정 08 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
2007.08 성균관대학교 대학원 의학과(의학 박사)
2001.02 서울대학교 대학원 의학과 (석사)
1996.02 서울대학교 의과대학 졸업 (의학사)
1992.02 서울대학교 자연과학대학 의예과 수료

경력

경력
2012.04 ~현재 삼성서울병원 진단검사의학과 부교수
2012.08 ~ 2013.07 미국국립보건원(NIH) Resear ch Scholar
2008.03 ~ 2013.03 삼성서울병원 진단검사의학과 조교수
2005.11 ~ 2008.02 삼성서울병원 진단검사의학과 임상조교수
2004.10 ~ 2005.10 삼성서울병원 진단검사의학과 임상전임의
2003.09 ~ 2004.08 미국 시카고대학/대학병원 Research Associate
2003.03 ~ 2003.08 삼성서울병원 진단검사의학과 연구전임의
2002.03 ~ 2003.02 삼성서울병원 진단검사의학과 임상전임의
2002.02 임상병리과 (現 진단검사의학과) 전문의자격 취득
1998.03 ~ 2002.02 서울대학교병원 임상병리과 레지던트과정 수료
1996.03 ~ 1997.02 서울대학교병원 인턴과정 수료

학회활동

학회활동
한국혈전지혈학회 정회원
대한조혈모세포이식학회 정회원
세계혈전지혈학회 정회원
대한혈액학회 정회원
대한진단검사의학회 정회원

수상이력

수상이력
2014.05 대한혈액학회 학술상
2013.10 대한진단검사의학회 우수연구자상
2013.09 한국혈전지혈학회 추계학술대회 최우수연제상
2011.05 대한혈액학회지 우수심사자상
2007.11 대한의학회주관 분쉬의학상 젊은의학자상
2006.09 아시아태평양 혈전지혈학회 젊은연구자상
  • Leuk Res. 2016 Nov;50:57-62. doi: 10.1016/j.leukres.2016.09.015. Epub 2016 Sep 15. Monosomal karyotype is not a predictor of dismal outcome in childhood de novo acute myeloid leukemia Lee NH11, Choi YB2, Yi ES3, Lee SH4, Kim HJ5, Lee JW3, Sung KW3, Koo HH3, Yoo KH6.
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  • J Clin Lab Anal. 2016 Nov;30(6):1061-1070. doi: 10.1002/jcla.21981. Epub 2016 May 2. Genetic Characteristics of Polycythemia Vera and Essential Thrombocythemia in Korean Patients Yoo EH11, Park KJ2,3, Won HH2,3, Park JH2,3, Park JH2,3, Lee ST4, Kim HJ4, Bang SM5, Chi HS6, Jung CW7, Kim SH4, Yun H8, Sun CH8, Park I8, Lee S8, Lee C9, Merriman B9, Luo R10, Tan EH10, Park KJ11, Yoo NK11, Kang JJ9, Kim JW12.
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  • J Clin Pathol. 2016 Aug;69(8):737-41. doi: 10.1136/jclinpath-2016-203649. Epub 2016 May 19. High frequency of JAK2 exon 12 mutations in Korean patients with polycythaemia vera: novel mutations and clinical significance Park CH11, Lee KO2, Jang JH3, Jung CW3, Kim JW1, Kim SH1, Kim HJ1.
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  • Oncotarget. 2016 Aug 23;7(34):54825-54837. doi: 10.18632/oncotarget.10240. Mutation profiling of 19 candidate genes in acute myeloid leukemia suggests significance of DNMT3A mutations Shin SY11, Lee ST2, Kim HJ3, Cho EH4, Kim JW3, Park S5, Jung CW5, Kim SH3.
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  • Oncotarget. 2016 Jul 26;7(30):47127-47133. doi: 10.18632/oncotarget.9478. Comprehensive genomic profiling of IgM multiple myeloma identifies IRF4 as a prognostic marker Ryu D11,2, Kim HJ3, Joung JG1, Lee HO1,4, Bae JS1, Kim SJ5, Kim H5, Park WY1,2,4, Kim K5.
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  • Psychiatry Investig. 2016 May;13(3):321-6. doi: 10.4306/pi.2016.13.3.321. Epub 2016 May 18. Reduced Venous Blood Basophil Count and Anxious Depression in Patients with Major Depressive Disorder Baek JH11, Kim HJ2, Fava M3, Mischoulon D3, Papakostas GI3, Nierenberg A4, Heo JY5, Jeon HJ6.
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  • Ann Lab Med. 2016 May;36(3):268-70. doi: 10.3343/alm.2016.36.3.268. Marked Increase of Circulating Double-Negative gamma delta T Cells in a Patient With Hydroa Vacciniforme-Like Lymphoma Shin SY11, Park CH1, Cho D1, Kim HJ1, Kim SH2.
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  • Ann Lab Med. 2016 May;36(3):209-14. doi: 10.3343/alm.2016.36.3.209. Usefulness of Flow Cytometric Analysis for Detecting Leptomeningeal Diseases in Non-Hodgkin Lymphoma Shin SY11,2, Lee ST2,3, Kim HJ2, Oh YL4, Kim SJ5, Kim WS5, Kim SH6.
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  • Ann Clin Lab Sci. 2016 May;46(3):312-4. A Novel Hemoglobin Variant Associated with Congenital Erythrocytosis: Hb Seoul [beta 86(F2)Ala -> Thr] (HBB:c.259G > A) Shin SY11, Bang SM2, Kim HJ3.
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  • Br J Haematol. 2016 Apr;173(1):156-9. doi: 10.1111/bjh.13564. Epub 2015 Jun 18. Congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) caused by novel ADAMTS13 mutations Kim HY11, Lee KO2, Yoo KH3, Kim SH1, Oh D4, Kim HJ5.
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  • Ann Lab Med. 2016 Mar;36(2):182-4. doi: 10.3343/alm.2016.36.2.182. Genetic Confirmation of Congenital Factor V Deficiency in Korean Patients Park CH11, Yoo K2, Lee KO3, Kim SH1, Sung KW4, Kim HJ5.
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  • Clin Genet. 2016 Feb;89(2):222-7. doi: 10.1111/cge.12682. Epub 2015 Nov 20. Prevalence of type 5 familial hemophagocytic lymphohistiocytosis in Korea and novel mutations in STXBP2 Seo JY11,2, Lee KO3, Yoo KH4, Sung KW4, Koo HH4, Kim SH1, Kang HJ5, Park KD5, Shin HY5, Baek HJ6, Kook H6, Lyu CJ7, Song JS8, Lee MJ9, Kim JY10, Lim YT11, Koh KN12, Im HJ12, Seo JJ12, Kim HJ1; Korea Histiocytosis Working Party.
    View PubMed
  • Leuk Lymphoma. 2015 Jul 18:1-3. [Epub ahead of print] Two cases of in-frame deletion mutation in juxtamembrane domain of the FLT3 Shin SY11, Lee ST, Park CH, Kim HJ, Kim SH.
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  • Ann Hematol. 2016 Jan;95(2):325-35. doi: 10.1007/s00277-015-2523-8. Epub 2015 Oct 10. Clinical significance of bone marrow hemophagocytosis in adult patients with malignancy and non-malignancy-induced hemophagocytic lymphohistiocytosis Lim SH11, Park S1, Jang JH1, Kim K1, Kim HJ2, Kim SH2, Kang CI3, Chung DR3, Peck KR3, Lee J4, Cha HS4, Koh EM4, Ko YH5, Kim WS1, Jung CW1, Kim SJ6,7.
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  • Pediatr Blood Cancer. 2015 Dec;62(12):2229-31. doi: 10.1002/pbc.25654. Epub 2015 Jul 14. Paternal Somatic Mosaicism of a Novel Frameshift Mutation in ELANE Causing Severe Congenital Neutropenia Kim HJ11, Song MJ1, Lee KO2, Kim SH1, Kim HJ1.
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  • Blood Coagul Fibrinolysis. 2015 Dec;26(8):866-8. doi: 10.1097/MBC.0000000000000234. Maternal low-level somatic mosaicism of Cys155Tyr of F9 in severe hemophilia B Kim HJ11, Lee KO, Yoo KY, Kim SH, Kim HJ.
    View PubMed
  • Korean J Intern Med. 2015 Nov;30(6):771-88. doi: 10.3904/kjim.2015.30.6.771. Epub 2015 Oct 30. Guidelines for the management of myeloproliferative neoplasms Choi CW11, Bang SM2, Jang S3, Jung CW4, Kim HJ5, Kim HY6, Kim SJ7, Kim YK8, Park J9, Won JH10.
    View PubMed
  • J Clin Lab Anal. 2015 Nov;29(6):505-10. doi: 10.1002/jcla.21801. Epub 2014 Oct 2. Antigen Expression Patterns of Plasma Cell Myeloma: An Association of Cytogenetic Abnormality and International Staging System (ISS) for Myeloma Shin SY11, Lee ST1, Kim HJ1, Kim SJ2, Kim K2, Kang ES1, Kim SH1.
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  • Leuk Lymphoma. 2015;56(11):3052-7. doi: 10.3109/10428194.2015.1025391. Epub 2015 Apr 8. A subset of CD45+/CD19-cells in bone marrow may be associated with clinical outcomes of patients with mantle cell lymphoma Kim SM11, Lee ST2,3, Ryu KJ4, Kim HJ2, Kim SH2, Ko YH5, Kim WS1, Kim SJ1,6.
    View PubMed
  • J Clin Lab Anal. 2015 Sep;29(5):361-5. doi: 10.1002/jcla.21779. Epub 2014 Nov 10. Mutant Enrichment with 3 '-Modified Oligonucleotides (MEMO)-Quantitative PCR for Detection of NPM1 Mutations in Acute Myeloid Leukemia Shin SY11, Ki CS1, Kim HJ1, Kim JW1, Kim SH1, Lee ST1.
    View PubMed
  • Ann Clin Lab Sci. 2015 Summer;45(4):446-8. A Novel de novo Mutation in the G6PD Gene in a Korean Boy with Glucose-6-phosphate Dehydrogenase Deficiency: Case Report Jang MA11, Kim JY2, Lee KO3, Kim SH1, Koo HH4, Kim HJ5.
    View PubMed
  • Korean J Intern Med. 2015 Jul;30(4):496-505. doi: 10.3904/kjim.2015.30.4.496. Epub 2015 Jun 29. Clinical features and outcomes of systemic amyloidosis with gastrointestinal involvement: a single-center experience Lim AY11, Lee JH1, Jung KS1, Gwag HB1, Kim do H1, Kim SJ1, Lee GY1, Kim JS2, Kim HJ3, Lee SY3, Lee JE1, Jeon ES1, Kim K1.
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  • Leuk Lymphoma. 2015 May;56(5):1550-1. doi: 10.3109/10428194.2014.971408. Epub 2014 Nov 3. A case of CD5-positive mature B-cell neoplasm with t(10;14)(q24;q11.2) and trisomy 12 Shin SY11, Lee ST, Kim HJ, Jang JH, Jung CW, Kim SH.
    View PubMed
  • Anticancer Res. 2015 May;35(5):3081-9. Mutations in the Spliceosomal Machinery Genes SRSF2, U2AF1, and ZRSR2 and Response to Decitabine in Myelodysplastic Syndrome Hong JY11, Seo JY2, Kim SH3, Jung HA4, Park S4, Kim K4, Jung CW4, Kim JS5, Park JS6, Kim HJ7, Jang JH8.
    View PubMed
  • Ann Lab Med. 2015 Mar;35(2):257-9. doi: 10.3343/alm.2015.35.2.257. Epub 2015 Feb 12. BRAF V600E and MAP2K1 Mutations in Hairy Cell Leukemia and Splenic Marginal Zone Lymphoma Cases Shin SY11, Lee ST1, Kim HJ1, Ki CS1, Jung CW2, Kim JW1, Kim SH1.
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  • Ann Lab Med. 2015 Mar;35(2):187-93. doi: 10.3343/alm.2015.35.2.187. Epub 2015 Feb 12. Bone Marrow Flow Cytometry in Staging of Patients With B-cell Nom-Hodgkin Lymphoma Kim B11, Lee ST1, Kim HJ1, Kim SH1.
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  • Ann Hum Genet. 2015 Mar;79(2):99-107. doi: 10.1111/ahg.12101. Epub 2015 Jan 23. Asp58Ala is the Predominant Mutation of the TTR Gene in Korean Patients with Hereditary Transthyretin-Related Amyloidosis Jang MA11, Lee GY, Kim K, Kim SJ, Kim JS, Lee SY, Kim HJ, Jeon ES.
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  • Blood Coagul Fibrinolysis. 2015 Mar;26(2):223-4. doi: 10.1097/MBC.0000000000000217. A novel nonsense mutation Tyr301*of PROS1 causing protein S deficiency Jang MA11, Kim SH, Kim DK, Kim HJ.
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  • Ann Lab Med. 2015 Jan;35(1):159-61. doi: 10.3343/alm.2015.35.1.159. Epub 2014 Dec 8. Two Cases of Acute Lymphoblastic Leukemia with an ela3 BCR-ABL1 Fusion Transcript Shin SY11, Cho JH1, Kim HJ1, Jang JH2, Lee ST1, Kim SH1.
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  • Ann Lab Med. 2015 Jan;35(1):155-8. doi: 10.3343/alm.2015.35.1.155. Epub 2014 Dec 8. First Report on Familial Hemophagocytic Lymphohistiocytosis with an Abnormal Immunophenotype and T Cell Monoclonality in Korea Shin SY11, Lee K1, Jang MA1, Lee ST1, Yoo KH2, Koo HH2, Kim DS3, Kim HJ1, Kim SH1.
    View PubMed
  • Eur J Haematol. 2015 Jan;94(1):51-9. doi: 10.1111/ejh.12399. Epub 2014 Jul 3. Clinical features, genetics, and outcome of pediatric patients with hemophagocytic lymphohistiocytosis in Korea: report of a nationwide survey from Korea Histiocytosis Working Party Koh KN11, Im HJ, Chung NG, Cho B, Kang HJ, Shin HY, Lyu CJ, Yoo KH, Koo HH, Kim HJ, Baek HJ, Kook H, Yoon HS, Lim YT, Kim HS, Ryu KH, Seo JJ; Korea Histiocytosis Working Party.
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  • Blood Coagul Fibrinolysis. 2015 Jan;26(1):46-9. doi: 10.1097/MBC.0000000000000171. Novel and recurrent mutations in the F13A1 gene in unrelated Korean patients with congenital factor XIII deficiency Jang MA11, Park YS, Lee KO, Kim HJ.
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  • Ann Lab Med. 2015 Jan;35(1):149-51. doi: 10.3343/alm.2015.35.1.149. Epub 2014 Dec 8. Simultaneous Occurrence of Angioimmunoblastic T-cell Lymphoma and Plasma Cell Leukemia Jang MA11, Lee ST1, Kim HJ1, Kim S2, Kim SH1.
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  • Amyloid. 2014 Dec;21(4):261-6. doi: 10.3109/13506129.2014.960560. Epub 2014 Sep 24. Bortezomib, melphalan, and prednisolone combination chemotherapy for newly diagnosed light chain (AL) amyloidosis Lee JY11, Lim SH, Kim SJ, Lee GY, Lee JE, Choi JO, Kim JS, Kim HJ, Lee SY, Min JH, Jeon ES, Kim K.
    View PubMed
  • Ann Lab Med. 2014 Nov;34(6):478-80. doi: 10.3343/alm.2014.34.6.478. Epub 2014 Oct 28. The First Korean Case of Childhood Acute Myeloid Leukemia with Inv(11)(p15q22)/NUP98-DDX10 Rearrangement: A Rare but Recurrent Genetic Abnormality Choi R11, Jang MA1, Yoo KH2, Lee ST1, Kim HJ1, Kim SH1.
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  • Ann Lab Med. 2014 Nov;34(6):475-7. doi: 10.3343/alm.2014.34.6.475. Epub 2014 Oct 28. A Cryptic ETV6/ABL1 Rearrangement Represents a Unique Fluorescence In Situ Hybridization Signal Pattern in a Patient with B Acute Lymphoblastic Leukemia Song JS11, Shin SY1, Lee ST1, Kim HJ1, Kim SH1.
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  • Clin Appl Thromb Hemost. 2014 Oct;20(7):723-8. doi: 10.1177/1076029613485153. Epub 2013 Apr 23. Monitoring of Unfractionated Heparin Using Activated Partial Thromboplastin Time: An Assessment of the Current Nomogram and Analysis According to Age Kim JS11, Lee HJ1, Sung JD2, Kim HJ3, Lee SY4, Kim JS5.
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  • Gene. 2014 Sep 1;547(2):295-9. doi: 10.1016/j.gene.2014.06.067. Epub 2014 Jun 30. The genomic architecture of the PROS1 gene underlying large tandem duplication mutation that causes thrombophilia from hereditary protein S deficiency Seo JY11, Lee KO2, Kim SH1, Oh D3, Kim DK4, Kim HJ5.
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  • Ann Hematol. 2014 Jun;93(6):931-5. doi: 10.1007/s00277-014-2006-3. Epub 2014 Jan 31. Hereditary gene mutations in Korean patients with isolated erythrocytosis Jang JH11, Seo JY, Jang J, Jung CW, Lee KO, Kim SH, Kim HJ.
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  • Haematologica. 2014 Apr;99(4):e49-51. doi: 10.3324/haematol.2013.102798. Epub 2014 Feb 21. Molecular characterization and clinical course of MLL-ACTN4 rearrangement in therapy-related hematologic malignancies Yang JJ11, Park TS, Lee ST, Seo JY, Oh SH, Cho EH, Burmeister T, Ludwig WD, Meyer C, Marschalek R, Kim HJ, Kim SH.
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  • Ann Hematol.?2014 Apr;93(4):603-8. doi: 10.1007/s00277-013-1915-x. Epub 2013 Oct 19. Clinical significance of SF3B1 mutations in Korean patients with myelodysplastic syndromes and myelodysplasia/myeloproliferative neoplasms with ring sideroblasts Seo JY11,?Lee KO,?Kim SH,?Kim K,?Jung CW,?Jang JH,?Kim HJ.
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  • Haematologica. 2014 Mar;99(3):561-9. doi: 10.3324/haematol.2013.092023. Epub 2013 Oct 25. Distinct frequencies and mutation spectrums of genetic thrombophilia in Korea in comparison with other Asian countries both in patients with thromboembolism and in the general population Kim HJ11, Seo JY, Lee KO, Bang SH, Lee ST, Ki CS, Kim JW, Jung CW, Kim DK, Kim SH.
    View PubMed
  • Ann Lab Med. 2014 Mar;34(2):166-9. doi: 10.3343/alm.2014.34.2.166. Epub 2014 Feb 13. Acute Lymphoblastic Leukemia with Mature B-Cell Phenotype and t(9;11;11)(p22;q23;p11.2): A Case Study and Literature Review Kim B11, Lee ST1, Kim HJ1, Lee SH2, Yoo KH2, Koo HH2, Kim SH1.
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  • Gene. 2014 Mar 10;537(2):343-7. doi: 10.1016/j.gene.2013.12.056. Epub 2014 Jan 4. Molecular characterization of near-complete trisomy 17p syndrome from inverted duplication in association with cryptic deletion of 17pter Park CH11, Kim HJ1, Lee ST1, Seo JM2, Kim SH3.
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  • Clin Chim Acta. 2014 Jan 20;428:72-6. Clinical application of catalytically cleavable fluorescence probe technology for multiplexing quantification of BCR-ABL1 fusion transcripts Park KJ1, Woo YM, Kim K, Lee ST, Ki CS, Kim HJ, Kim SH, Kim JW.
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  • Acta Haematol. 2014;131(1):18-27. doi: 10.1159/000351060. Epub 2013 Sep 10. Clinical Features and Treatment Outcomes of Intravascular Large B-Cell Lymphoma: A Single-Center Experience in Korea Hong JY11, Kim HJ, Ko YH, Choi JY, Jung CW, Kim SJ, Kim WS.
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  • Haematologica. 2014 Jan;99(1):e11-3. doi: 10.3324/haematol.2013.095638. Molecular characterization and clinical impact of t(11;15)(q23;q14-15) MLL-CASC5 rearrangement Yang JJ11, Park TS, Lee ST, Seo JY, Oh SH, Cho EH, Strehl S, Muhlegger N, Dworzak MN, Zuna J, Pospisilova D, Meyer C, Marschalek R, Kim HJ, Kim SH.
    View PubMed
  • PLoS One. 2013 Nov 18;8(11):e79063. doi: 10.1371/journal.pone.0079063. eCollection 2013. SNP Linkage Analysis and Whole Exome Sequencing Identify a Novel POU4F3 Mutation in Autosomal Dominant Late-Onset Nonsyndromic Hearing Loss (DFNA15) Kim HJ11, Won HH, Park KJ, Hong SH, Ki CS, Cho SS, Venselaar H, Vriend G, Kim JW.
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  • Ann Clin Lab Sci. 2013 Fall;43(4):450-6. Cryptic Microdeletion of the CREBBP Gene from t(1;16) (p36.2;p13.3) as a Novel Genetic Defect Causing Rubinstein-Taybi Syndrome Kim SR11, Kim HJ, Kim YJ, Kwon JY, Kim JW, Kim SH.
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  • Blood Coagul Fibrinolysis. 2013 Oct;24(7):746-8. doi: 10.1097/MBC.0b013e3283631e04. Low intraindividual variability of activated partial thromboplastin time revealed in a population of 10 487 control individuals Ma Y11, Huh HJ, Kim SH, Kim HJ.
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  • Blood Coagul Fibrinolysis. 2013 Jul;24(5):544-6. doi: 10.1097/MBC.0b013e32835ee0f8. Mild haemophilia B from a novel missense mutation Ser350Ala of the F9 gene Park CH11, Seo JY, Kim SH, Koo HH, Kim HJ.
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  • Clin Exp Otorhinolaryngol. 2013 Jun;6(2):99-102. doi: 10.3342/ceo.2013.6.2.99. Epub 2011 Feb 7. Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome Chu HS11, Chung HS, Ko MH, Kim HJ, Ki CS, Chung WH, Cho YS, Hong SH.
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  • Ann Hematol. 2013 May;92(5):635-44. doi: 10.1007/s00277-012-1664-2. Epub 2013 Jan 25. Gene mutation profiles and prognostic implications in Korean patients with T-lymphoblastic leukemia Huh HJ11, Lee SH, Yoo KH, Sung KW, Koo HH, Jang JH, Kim K, Kim SJ, Kim WS, Jung CW, Lee KO, Kim SH, Kim HJ.
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  • Ann Hematol. 2013 Apr;92(4):459-69. doi: 10.1007/s00277-012-1635-7. Epub 2012 Dec 23. Genome-wide single-nucleotide polymorphism array-based karyotyping in myelodysplastic syndrome and chronic myelomonocytic leukemia and its impact on treatment outcomes following decitabine treatment Yi JH11, Huh J, Kim HJ, Kim SH, Kim SH, Kim KH, Do YR, Mun YC, Kim H, Kim MK, Kim HJ, Kim T, Kim DD.
    View PubMed
  • Ann Lab Med. 2013 Mar;33(2):97-104. doi: 10.3343/alm.2013.33.2.97. Epub 2013 Feb 21. Therapy-Related Myeloid Neoplasms in 39 Korean Patients: A Single Institution Experience Huh HJ11, Lee SH, Yoo KH, Sung KW, Koo HH, Kim K, Jang JH, Jung C, Kim SH, Kim HJ.
    View PubMed
  • Ann Hematol. 2013 Mar;92(3):357-64. doi: 10.1007/s00277-012-1628-6. Epub 2012 Nov 24. Founder effects in two predominant intronic mutations of UNC13D, c.118-308C > T and c.754-1G > C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in Korea Seo JY11, Song JS, Lee KO, Won HH, Kim JW, Kim SH, Lee SH, Yoo KH, Sung KW, Koo HH, Kang HJ, Shin HY, Ahn HS, Han DK, Kook H, Hwang TJ, Lyu CJ, Lee MJ, Kim JY, Park SS, Lim YT, Kim BE, Koh KN, Im HJ, Seo JJ, Kim HJ; Korea Histiocytosis Working Party.
    View PubMed
  • Clin Exp Otorhinolaryngol. 2013 Mar;6(1):41-4. doi: 10.3342/ceo.2013.6.1.41. Epub 2011 Oct 1. A Novel Frameshift Mutation of the USH2A Gene in a Korean Patient with Usher Syndrome Type II Boo SH11, Song MJ, Kim HJ, Cho YS, Chu H, Ko MH, Chung WH, Kim JW, Hong SH.
    View PubMed
  • Int J Hematol. 2013 Mar;97(3):403-8. doi: 10.1007/s12185-013-1286-z. Epub 2013 Feb 12. Chronic lymphocytic leukemia in Korean patients: frequent atypical immunophenotype and relatively aggressive clinical behavior Jang MA11, Yoo EH, Kim K, Kim WS, Jung CW, Kim SH, Kim HJ.
    View PubMed
  • Ann Hematol. 2013 Jan;92(2):163-71. doi: 10.1007/s00277-012-1580-5. Epub 2012 Sep 28. KIT D816 mutation associates with adverse outcomes in core binding factor acute myeloid leukemia, especially in the subgroup with RUNX1/RUNX1T1 rearrangement Kim HJ11, Ahn HK, Jung CW, Moon JH, Park CH, Lee KO, Kim SH, Kim YK, Kim HJ, Sohn SK, Kim SH, Lee WS, Kim KH, Mun YC, Kim H, Park J, Min WS, Kim HJ, Kim DH; L/MDS working party, Korean Society of Hematology.
    View PubMed
  • Haemophilia. 2012 Nov;18(6):1008-13. doi: 10.1111/j.1365-2516.2012.02895.x. Epub 2012 Jun 29. Mutation spectrum and inhibitor risk in 100 Korean patients with severe haemophilia A Kim HJ11, Chung HS, Kim SK, Yoo KY, Jung SY, Park IA, Lee KO, Kim SH, Kim HJ.
    View PubMed
  • Am J Hematol. 2012 Oct;87(10):961-8. doi: 10.1002/ajh.23281. Epub 2012 Aug 7. A genome-wide single-nucleotide polymorphism-array can improve the prognostic stratification of the core binding factor acute myeloid leukemia Huh J11, Kim HJ, Jung CW, Kim HJ, Kim SH, Kim YK, Kim HJ, Shin MG, Moon JH, Sohn SK, Kim SH, Lee WS, Won JH, Mun YC, Kim H, Park J, Min WS, Kim DH; AML/MDS working party, Korean Society of Hematology.
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  • Thromb Res. 2012 Oct;130(4):e199-202. doi: 10.1016/j.thromres.2012.07.019. Epub 2012 Aug 15. Seasonal variation in the occurrence of venous thromboembolism: A report from the Korean Venous Thromboembolism Working Party Jang MJ11, Kim HJ, Bang SM, Lee JO, Yhim HY, Kim YK, Kim YK, Choi WI, Lee EY, Kim IH, Park S, Sohn HJ, Kim DK, Kim M, Oh D.
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  • Pediatr Blood Cancer. 2012 Aug;59(2):335-8. doi: 10.1002/pbc.24041. Epub 2011 Dec 20. Novel and recurrent mutations of ITGA2B and ITGB3 genes in Korean patients with Glanzmann thrombasthenia Park KJ11, Chung HS, Lee KO, Park IA, Kim SH, Kim HJ.
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  • Ann Lab Med. 2012 Jul;32(4):289-93. doi: 10.3343/alm.2012.32.4.289. Epub 2012 Jun 20. MYC Rearrangement Involving a Novel Non-immunoglobulin Chromosomal Locus in Precursor B-cell Acute Lymphoblastic Leukemia Seo JY11, Lee SH, Kim HJ, Yoo KH, Koo HH, Cho YG, Choi SI, Kim SH.
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  • Blood Coagul Fibrinolysis. 2012 Jul;23(5):355-8. doi: 10.1097/MBC.0b013e32834fa81e. Combined congenital dysfibrinogenemia and factor VII deficiency from mutations in the FGB and F7 genes Woo HI11, Park IA, Lee KO, Kim SH, Kim HJ.
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  • Br J Dermatol. 2012 Jun;166(6):1370-3. doi: 10.1111/j.1365-2133.2012.10816.x. Epub 2012 Mar 14. N822K c-kit mutation in CD30-positive cutaneous pleomorphic mastocytosis after germ cell tumour of the ovary Baek JO1, Kang HK, Na SY, Lee JR, Roh JY, Lee JH, Kim HJ, Park S.
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  • Yonsei Med J. 2012 May;53(3):662-6. doi: 10.3349/ymj.2012.53.3.662. A Trp33Arg Mutation at Exon 1 of the MYH9 Gene in a Korean Patient with May-Hegglin Anomaly Jang MJ11, Park HJ, Chong SY, Huh JY, Kim IH, Jang JH, Kim HJ, Oh D.
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  • Yonsei Med J. 2012 May;53(3):571-7. doi: 10.3349/ymj.2012.53.3.571. Hereditary Thrombophilia in Korean Patients with Idiopathic Pulmonary Embolism Lee M11, No HJ, Jang SY, Kim N, Choi SH, Kim H, Kim SH, Kim HJ, Kim DK.
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  • J Pediatr Hematol Oncol. 2012 May;34(4):e152-4. doi: 10.1097/MPH.0b013e3182422a20. Hemophagocytic Lymphohistiocytosis can Mimic the Superior Vena Cava Syndrome Park M11, Choi JW, Park HJ, Kim HJ, Hi Son M, Yoon JH, Kim SJ, Park WS, Park BK.
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  • Am J Rhinol Allergy. 2012 May-Jun;26(3):177-82. doi: 10.2500/ajra.2012.26.3753. Down-regulation of gelsolin may play a role in the progression of inverted papilloma through an antiapoptotic mechanism Cho JE11, Park Wi, Kim DC, Kim HJ, Kim SW, Kang JM, Cho JH.
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  • Pediatr Blood Cancer. 2012 Apr;58(4):640-2. doi: 10.1002/pbc.23190. Epub 2011 May 25. A novel mutation Gly603Arg of TMPRSS6 in a Korean female with iron-refractory iron deficiency anemia Choi HS11, Yang HR, Song SH, Seo JY, Lee KO, Kim HJ.
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  • Thromb Haemost. 2012 Apr;107(4):799-801. doi: 10.1160/TH11-11-0762. Epub 2012 Mar 8. ABO blood types are associated with risk of idiopathic venous thromboembolism in the Korean population A report from the Korean Venous Thromboembolism Working Party (KVTEWP) Jang MJ1, Yhim HY, Lee JO, Kim YK, Kim YK, Kim IH, Park S, Choi WI, Oh D, Kim DK, Kim HJ.
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  • Ann Hematol. 2012 Apr;91(4):511-7. doi: 10.1007/s00277-011-1326-9. Epub 2011 Sep 8. Gene mutations in the Ras pathway and the prognostic implication in Korean patients with juvenile myelomonocytic leukemia Park HD11, Lee SH, Sung KW, Koo HH, Jung NG, Cho B, Kim HK, Park IA, Lee KO, Ki CS, Kim SH, Yoo KH, Kim HJ.
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  • Immature Platelet Fraction: Establishment of a Reference Interval and Diagnostic Measure for Thrombocytopenia (vol 30, pg 451, 2010)
  • Ann Lab Med. 2012 Mar;32(2):153-7. doi: 10.3343/alm.2012.32.2.153. Epub 2012 Feb 23. Novel Mutations in CEBPA in Korean Patients with Acute Myeloid Leukemia with a Normal Karyotype Kim S11, Kim DH, Jang JH, Jung CW, Jang MA, Ki CS, Kim JW, Kim SH, Kim HJ.
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  • Diagn Mol Pathol. 2012 Mar;21(1):40-4. doi: 10.1097/PDM.0b013e3182319ebe. Diagnostic Utility of a Multiplex RT-PCR Assay in Detecting Fusion Transcripts From Recurrent Genetic Abnormalities of Acute Leukemia by WHO 2008 Classification Song MJ11, Kim HJ, Park CH, Kim SK, Ki CS, Kim JW, Kim SH.
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  • Pediatr Blood Cancer. 2012 Feb;58(2):297-9. doi: 10.1002/pbc.23377. Epub 2011 Oct 28. IVS6+5G>A found in Wiskott-Aldrich syndrome and X-linked thrombocytopenia in a Korean family Yoon SH11, Cho T, Kim HJ, Kim SY, Ko JH, Baek HS, Lee HJ, Lee CH.
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  • Haematologica. 2012 Feb;97(2):304-9. doi: 10.3324/haematol.2011.052324. Epub 2011 Oct 11. Heterogeneous lengths of copy number mutations in human coagulopathy revealed by genome-wide high-density SNP array Kim HJ11, Kim DK, Yoo KY, You CW, Yoo JH, Lee KO, Park IA, Choung HS, Kim HJ, Song MJ, Kim SH.
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  • Am J Hematol. 2012 Jan;87(1):37-41. doi: 10.1002/ajh.22193. Epub 2011 Nov 25. Monosomal karyotype in acute myeloid leukemia predicts adverse treatment outcome and associates with high functional multidrug resistance activity Ahn HK11, Jang JH, Kim K, Kim HJ, Kim SH, Jung CW, Kim DH.
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  • Blood Coagul Fibrinolysis. 2012 Jan;23(1):35-8. doi: 10.1097/MBC.0b013e32834a6136. Significantly different coagulation factor activities underlying the variability of 'normal' activated partial thromboplastin time Park KJ11, Kwon EH, Ma Y, Park IA, Kim SW, Kim SH, Kim HJ.
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  • Ann Clin Lab Sci. 2012 Winter;42(1):98-102. A Gly1609Arg Missense Mutation in the vWF Gene in a Korean Patient with von Willebrand Disease Type 2A Choi SJ11, Lee EY, Kim HJ, Lee KA, Song J, Choi JR, Yoo JH.
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  • J Korean Med Sci. 2011 Dec;26(12):1646-9. doi: 10.3346/jkms.2011.26.12.1646. Epub 2011 Nov 29. Novel ELANE Gene Mutation in a Korean Girl with Severe Congenital Neutropenia Shim YJ11, Kim HJ, Suh JS, Lee KS.
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  • Blood Coagul Fibrinolysis. 2011 Dec;22(8):742-5. doi: 10.1097/MBC.0b013e32834a7e17. A novel splice-site mutation c.42-2A > T (IVS1-2A > T) of SERPINC1 in a Korean family with inherited antithrombin deficiency Jang MJ11, Lee JG, Chong SY, Huh JY, Jang MA, Kim HJ, Oh D.
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  • Int J Dermatol. 2011 Nov;50(11):1437-9. doi: 10.1111/j.1365-4632.2010.04549.x. Identification of a novel mutation in the ectodysplasin A gene in a Korean family with X-linked hypohidrotic ectodermal dysplasia Kim JH1, Lim IS, Choi ES, Lee HI, Kim BJ, Kim MN, Lee ST, Kim HJ, Kim JW, Ki CS, Kim BJ.
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  • Ann Clin Lab Sci. 2011 Fall;41(4):397-400. A Rare Splicing Mutation in the PROS1 Gene of a Korean Patient with Type I Hereditary Protein S Deficiency Choi J11, Kim HJ, Chang MH, Choi JR, Yoo JH.
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  • Int J Lab Hematol. 2011 Oct;33(5):471-6. doi: 10.1111/j.1751-553X.2011.01308.x. Epub 2011 Mar 24. Prevalence of overt myeloproliferative neoplasms and JAK2 V617F mutation in Korean patients with splanchnic vein thrombosis Yoo EH11, Jang JH, Park KJ, Gwak GY, Kim HJ, Kim SH, Kim DK.
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  • Korean J Lab Med. 2011 Oct;31(4):290-3. doi: 10.3343/kjlm.2011.31.4.290. Epub 2011 Oct 3. A Novel Missense Mutation Asp506Gly in Exon 13 of the F11 Gene in an Asymptomatic Korean Woman with Mild Factor XI Deficiency Lee JH11, Cho HS, Hyun MS, Kim HY, Kim HJ.
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  • J Korean Med Sci. 2011 Sep;26(9):1247-9. doi: 10.3346/jkms.2011.26.9.1247. Epub 2011 Sep 1. The First Case of Postpartum Acquired Hemophilia A in Korea Lee JH11, Kim DH, Yoo K, Choi Y, Kim SH, Kim HJ.
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  • No items found. Development of simple and rapid HLA-C genotyping method using an oligonucleotide microarray
  • Ann Hematol. 2011 Aug;90(8):975-8. doi: 10.1007/s00277-010-1108-9. Epub 2010 Oct 30. Neutropenia in parvovirus B19-associated pure red cell aplasia Seo JY1, Kim HJ, Kim SH.
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  • Korean J Lab Med. 2011 Jul;31(3):154-6. doi: 10.3343/kjlm.2011.31.3.154. Epub 2011 Jun 28. Acquired Factor X Deficiency in Light Chain Amyloidosis: A Report of 2 Korean Cases Ma Y11, Kwon EH, Lee JE, Kim K, Kim HJ, Kim SH.
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  • Korean J Lab Med. 2011 Jul;31(3):143-7. doi: 10.3343/kjlm.2011.31.3.143. Epub 2011 Jun 28. Evaluation of the Diagnostic Performance of Fibrin Monomer in Disseminated Intravascular Coagulation Park KJ11, Kwon EH, Kim HJ, Kim SH.
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  • Ann Clin Lab Sci. 2011 Spring;41(2):138-43. Underestimation of recipient DNA in bone marrow by post-transplant chimerism analyses using DNA extracted from EDTA-collected aspirate samples in pediatric acute myeloid leukemia Park CH11, Song MJ, Kim HJ, Ki CS, Lee SH, Yoo KH, Sung KW, Koo HH, Kim SH.
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  • Ann Clin Lab Sci. 2011 Spring;41(2):193-6. CKIT mutation in therapy-related acute myeloid leukemia with MLLT3/MLL chimeric transcript from t(9;11)(p22;q23) Jung CL11, Kim HJ, Kim DH, Huh H, Song MJ, Kim SH.
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  • Blood Coagul Fibrinolysis. 2011 Apr;22(3):211-4. doi: 10.1097/MBC.0b013e328343f873. Molecular characterization of female hemophilia A by multiplex ligation-dependent probe amplification analysis and X-chromosome inactivation study Song MJ11, Kim HJ, Yoo KY, Park IA, Lee KO, Ki CS, Kim SH.
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  • Blood Coagul Fibrinolysis. 2011 Mar;22(2):102-5. doi: 10.1097/MBC.0b013e328343641a. Recurrent mutations and genotype-phenotype correlations in hereditary factor VII deficiency in Korea Kwon MJ11, Yoo KY, Lee KO, Kim SH, Kim HJ.
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  • Thromb Res. 2011 Feb;127(2):176-8. doi: 10.1016/j.thromres.2010.07.019. Epub 2010 Aug 21. A novel insertion mutation 718dupG in the PROC gene in a Korean thrombophilic family Park HJ1, Chong SY, Oh D, Huh JY, Kim HJ, Yun-Choi HS, Park S.
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  • Pediatr Blood Cancer. 2011 Feb;56(2):304-6. doi: 10.1002/pbc.22842. A Novel Nonsense Mutation in the MPL Gene in Congenital Amegakaryocytic Thrombocytopenia Chung HS11, Koh KN, Kim HJ, Kim HJ, Lee KO, Park CJ, Chi HS, Kim SH, Seo JJ, Im HJ.
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  • No items found. Diagnostic and therapeutic guideline for myeloproliferative neoplasm
  • Ann Clin Lab Sci. 2011 Fall;41(1):89-92. Case Report: A Heparin Binding Site Arg79Cys Missense Mutation in the SERPINC1 Gene in a Korean Patient with Hereditary Antithrombin Deficiency Yoo JH11, Maeng HY, Kim HJ, Lee KA, Choi JR, Song J.
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  • Ann Clin Lab Sci. 2011 Fall;41(1):66-70. Acute Myeloid Leukemia with Complex Hypodiploidy and Loss of Heterozygosity of 17p in a Boy with Fanconi Anemia Woo HI11, Kim HJ, Lee SH, Yoo KH, Koo HH, Kim SH.
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  • J Korean Med Sci. 2010 Dec;25(12):1818-20. doi: 10.3346/jkms.2010.25.12.1818. Epub 2010 Nov 24. Congenital Zinc Deficiency from Mutations of the SLC39A4 Gene as the Genetic Background of Acrodermatitis Enteropathica Park CH11, Lee MJ, Kim HJ, Lee G, Park JW, Cinn YW.
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  • Korean J Lab Med. 2010 Dec;30(6):559-66. doi: 10.3343/kjlm.2010.30.6.559. Current Status and Proposal of a Guideline for Manual Slide Review of Automated Complete Blood Cell Count and White Blood Cell Dfferential Woo HY11, Shin SY, Park H, Kim YJ, Kim HJ, Lee YK, Chae SL, Chang YH, Choi JR, Han K, Cho SR, Kwon KC.
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  • J Dermatol Sci. 2010 Nov;60(2):120-2. doi: 10.1016/j.jdermsci.2010.08.007. Epub 2010 Aug 27. A novel mutation of the WAS gene in a patient with Wiskott-Aldrich syndrome presenting with recalcitrant viral warts Kim JK1, Yoon MS, Huh JY, Kim HJ, Kim DH.
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  • Blood Coagul Fibrinolysis. 2010 Oct;21(7):683-6. doi: 10.1097/MBC.0b013e32833e429c. Novel deleterious mutation in the F12 gene in a Korean family with severe coagulation factor XII deficiency Kim HJ11, Kim HJ, Kwon EH, Lee KO, Park IA, Kim SH.
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  • Korean J Lab Med. 2010 Oct;30(5):451-9. doi: 10.3343/kjlm.2010.30.5.451. Immature Platelet Fraction: Establishment of a Reference Interval and Diagnostic Measure for Thrombocytopenia Jung H11, Jeon HK, Kim HJ, Kim SH.
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  • Korean J Lab Med. 2010 Oct;30(5):474-6. doi: 10.3343/kjlm.2010.30.5.474. JAK2 V617F and MPL W515L/K Mutations in Korean Patients with Essential Thrombocythemia Kim HJ11, Jang JH, Yoo EH, Kim HJ, Ki CS, Kim JW, Kim SH.
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  • Pediatr Transplant. 2010 Sep 1;14(6):735-40. doi: 10.1111/j.1399-3046.2009.01284.x. Epub 2010 Jan 24. The outcome of hematopoietic stem cell transplantation in Korean children with hemophagocytic lymphohistiocytosis Yoon HS11, Im HJ, Moon HN, Lee JH, Kim HJ, Yoo KH, Sung KW, Koo HH, Kang HJ, Shin HY, Ahn HS, Cho B, Kim HK, Lyu CJ, Lee MJ, Kook H, Hwang TJ, Seo JJ.
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  • Blood Coagul Fibrinolysis. 2010 Jun;21(4):368-71. doi: 10.1097/MBC.0b013e3283367946. A diagnostic challenge: mild hemophilia B with normal activated partial thromboplastin time Park CH11, Seo JY, Kim HJ, Jang JH, Kim SH.
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  • Blood Coagul Fibrinolysis. 2010 Jun;21(4):308-12. doi: 10.1097/MBC.0b013e32833449df. Molecular genetic analysis of Korean patients with coagulation factor XII deficiency Kwon MJ11, Kim HJ, Lee KO, Jung CW, Kim SH.
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  • Clin Exp Otorhinolaryngol. 2010 Jun;3(2):65-9. doi: 10.3342/ceo.2010.3.2.65. Epub 2010 Jun 30. Sequence Variations and Haplotypes of the GJB2 Gene Revealed by Resequencing of 192 Chromosomes from the General Population in Korea Kim HJ11, Park CH, Kim HJ, Lee KO, Won HH, Ko MH, Chu H, Cho YS, Chung WH, Kim JW, Hong SH.
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  • Int J Hematol. 2010 Jun;91(5):784-91. doi: 10.1007/s12185-010-0593-x. Epub 2010 Jun 10. Mutation analysis of factor VIII in Korean patients with severe hemophilia A You CW11, Son HS, Kim HJ, Woo EJ, Kim SA, Baik HW.
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  • Pediatr Blood Cancer. 2010 Apr;54(4):629-31. doi: 10.1002/pbc.22316. A Novel Initiation Codon Mutation in the Ribosomal Protein S17 Gene (RPS17) in a Patient With Diamond-Blackfan Anemia Song MJ11, Yoo EH, Lee KO, Kim GN, Kim HJ, Kim SY, Kim SH.
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  • Haematologica. 2010 Apr;95(4):622-6. doi: 10.3324/haematol.2009.016949. Epub 2009 Dec 16. UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis Yoon HS11, Kim HJ, Yoo KH, Sung KW, Koo HH, Kang HJ, Shin HY, Ahn HS, Kim JY, Lim YT, Bae KW, Lee KO, Shin JS, Lee ST, Chung HS, Kim SH, Park CJ, Chi HS, Im HJ, Seo JJ.
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  • Blood Coagul Fibrinolysis. 2010 Apr;21(3):251-5. doi: 10.1097/MBC.0b013e3283367931. Establishment of reference intervals for von Willebrand factor antigen and eight coagulation factors in a Korean population following the Clinical and Laboratory Standards Institute guidelines Jang JH11, Seo JY, Bang SH, Park IA, Kim HJ, Kim SH.
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  • J Korean Med Sci. 2009 Dec;24(6):1203-6. doi: 10.3346/jkms.2009.24.6.1203. Epub 2009 Nov 9. Fibrinogen Yecheon: Congenital Dysfibrinogenemia with Gamma Methionine-310 to Threonine Substitution Park E11, Park G, Park R, Kim HJ, Lee SJ, Cha YJ.
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  • Ann Hematol. 2009 Jun;88(6):593-5. doi: 10.1007/s00277-008-0629-y. Epub 2008 Oct 23. A novel mutation Ala57Val of the ELA2 gene in a Korean boy with severe congenital neutropenia Lee ST1, Yoon HS, Kim HJ, Lee JH, Park JH, Kim SH, Seo JJ, Im HJ.
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  • J Allergy Clin Immunol. 2009 Apr;123(4):956-8. doi: 10.1016/j.jaci.2009.01.068. A novel mutation in the linker domain of the signal transducer and activator of transcription 3 gene, p.Lys531Glu, in hyper-IgE syndrome Kim HJ1, Kim JH, Shin YK, Lee SI, Ahn KM.
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  • Thromb Res. 2009 Mar;123(5):793-5. doi: 10.1016/j.thromres.2008.12.003. Epub 2009 Jan 24. Hereditary protein S deficiency from a novel large deletion mutation of the PROS1 gene detected by multiplex ligation-dependent probe amplification (MLPA) Yoo JH11, Kim HJ, Maeng HY, Kim YA, Sun YK, Song JW, Choi JR, Kim SH, Lee KA.
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  • Acta Otolaryngol. 2009 Jun;129(6):688-93. doi: 10.1080/00016480802342432. A novel splice site mutation in the EYA1 gene in a Korean family with branchio-oto (BO) syndrome Kwon MJ11, Boo SH, Kim HJ, Cho YS, Chung WH, Hong SH.
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  • Thromb Res. 2008;123(2):412-7. doi: 10.1016/j.thromres.2008.04.014. Epub 2008 Jun 24. Severe protein C deficiency from compound heterozygous mutations in the PROC gene in two Korean adult patients Kim HJ11, Kim DK, Koh KC, Kim JY, Kim SH.
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  • Blood Coagul Fibrinolysis. 2008 Oct;19(7):679-83. doi: 10.1097/MBC.0b013e32830ef8f9. Severe factor XI deficiency in a Korean woman with a novel missense mutation (Val498Met) and duplication G mutation in exon 13 of the F11 gene Kwon MJ11, Kim HJ, Bang SH, Kim SH.
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  • PLoS One. 2008;3(10):e3575. doi: 10.1371/journal.pone.0003575. Epub 2008 Oct 30. Cataloging Coding Sequence Variations in Human Genome Databases Won HH11, Kim HJ, Lee KA, Kim JW.
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  • Haemophilia. 2008 Sep;14(5):1069-75. doi: 10.1111/j.1365-2516.2008.01796.x. Epub 2008 Jul 8. Identification of mutations in the F9 gene including exon deletion by multiplex ligation-dependent probe amplification in 33 unrelated Korean patients with haemophilia B Kwon MJ11, Yoo KY, Kim HJ, Kim SH.
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  • J Thromb Haemost. 2008 Aug;6(8):1430-2. doi: 10.1111/j.1538-7836.2008.03026.x. Epub 2008 May 17. Inherited protein S deficiency as a reszult of a large duplication mutation of the PROS1 gene detected by multiplex ligation-dependent probe amplification Choung HS1, Kim HJ, Gwak GY, Kim SH, Kim DK.
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  • Korean J Lab Med. 2008 Aug;28(4):258-61. doi: 10.3343/kjlm.2008.28.4.258. A case of type 2N von Willebrand disease with homozygous R816W mutation of the VWF gene in a Nepalese woman Lee SY11, Nam EM, Lee SN, Kim HJ, Hong KS.
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  • Breast Cancer Res Treat. 2008 Jul;110(2):367-76. Epub 2007 Oct 2. Genetic polymorphisms in uridine diphospho-glucuronosyltransferase 1A1 and breast cancer risk in Africans Huo D11, Kim HJ, Adebamowo CA, Ogundiran TO, Akang EE, Campbell O, Adenipekun A, Niu Q, Sveen L, Fackenthal JD, Fackenthal DL, Das S, Cox N, Di Rienzo A, Olopade OI.
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  • J Thromb Haemost. 2008 Apr;6(4):701-3. doi: 10.1111/j.1538-7836.2008.02905.x. Epub 2008 Jan 15. Detection of large deletion mutations in the SERPINC1 gene causing hereditary antithrombin deficiency by multiplex ligation-dependent probe amplification (MLPA) Lee ST1, Kim HJ, Kim DK, Schuit RJ, Kim SH.
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  • Am J Hum Genet. 2007 Sep;81(3):552-8. Epub 2007 Jun 29. Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (CMTX5) Kim HJ11, Sohn KM, Shy ME, Krajewski KM, Hwang M, Park JH, Jang SY, Won HH, Choi BO, Hong SH, Kim BJ, Suh YL, Ki CS, Lee SY, Kim SH, Kim JW.
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  • Mod Pathol. 2006 Aug;19(8):1139-47. Epub 2006 Jun 16. Enhanced expression of hedgehog signaling molecules in squamous cell carcinoma of uterine cervix and its precursor lesions Xuan YH11, Jung HS, Choi YL, Shin YK, Kim HJ, Kim KH, Kim WJ, Lee YJ, Kim SH.
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  • Int J Hematol. 2006 Jun;83(5):426-8. A novel mutation W252X in the WAS gene in a Korean patient with Wiskott-Aldrich syndrome Kim HJ11, Yoo EH, Ki CS, Yoo GH, Koo HH, Kim JW, Kim SH.
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  • Mod Pathol. 2006 May;19(5):675-83. Increased expression of sonic hedgehog and altered methylation of its promoter region in gastric cancer and its related lesions Wang LH11, Choi YL, Hua XY, Shin YK, Song YJ, Youn SJ, Yun HY, Park SM, Kim WJ, Kim HJ, Choi JS, Kim SH.
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  • Neurology. 2005 Jun 14;64(11):1964-7. A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24 Kim HJ11, Hong SH, Ki CS, Kim BJ, Shim JS, Cho SH, Park JH, Kim JW.
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  • Clin Genet. 2004 Oct;66(4):368-72. Genetic basis of Prader-Willi syndrome in Korea: less uniparental disomy than has been recognized Kim HJ1, Cho HJ, Jin DK, Kwon EK, Ki CS, Kim JW, Kim SH.
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  • Clin Lab Haematol. 2004 Aug;26(4):287-90. Pseudobasophilia as an erroneous white blood cell differential count with a discrepancy between automated cell counters: report of two cases Hur M11, Lee YK, Lee KM, Kim HJ, Cho HI.
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  • Am J Hematol. 2004 Aug;76(4):360-3. ABL oncogene amplification with p16(INK4a) gene deletion in precursor T-Cell acute lymphoblastic leukemia/lymphoma: Report of the first case Kim HJ11, Woo HY, Koo HH, Tak EY, Kim SH.
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  • Genes Chromosomes Cancer. 2003 Sep;38(1):8-12. MLL/SEPTIN6 chimeric transcript from inv ins(X;11 )(q24;q23q13) in acute monocytic leukemia: Report of a case and review of the literature Kim HJ11, Ki CS, Park Q, Koo HH, Yoo KH, Kim EJ, Kim SH.
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