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Sung Sup Park

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Kyung Eui Park; Sung Sup Park; Moon-Woo Seong; Kyoung Won Yoo; Sun Kyung Oh; Sung Im Cho; Young Min Choi; Jong Kwan Jun; Moon Joo Kang; Hee Sun Kim; Sung Ah Kim; So Yeon Kim; Seung-Yup Ku; Hye Jun Lee; Shin Yong Moon
Successful birth with preimplantation genetic diagnosis using single-cell allele-specific PCR and sequencing in a woman with hypochondroplasia due to FGFR3 mutation (c.1620C>A, p.N540K).
Soo Hyun Seo; Sung Im Cho; Ok-Hwa Kim; Shin-Hye Kim; Mi Jung Park; Seungman Park; Sung Sup Park; Moon-Woo Seong
Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement.
Jae Hong Choi; Hyoung Jin Kang; Hoan Jong Lee; Kyung Duk Park; Sung Sup Park; Hee Young Shin; Eun Hwa Choi; Hyo Seop Ahn
Respiratory viral infections after hematopoietic stem cell transplantation in children.

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2013: Kyung Eui Park; Sung Sup Park; Moon-Woo Seong; Kyoung Won Yoo; Sun Kyung Oh; Sung Im Cho; Young Min Choi; Jong Kwan Jun; Moon Joo Kang; Hee Sun Kim; Sung Ah Kim; So Yeon Kim; Seung-Yup Ku; Hye Jun Lee; Shin Yong Moon
Successful birth with preimplantation genetic diagnosis using single-cell allele-specific PCR and sequencing in a woman with hypochondroplasia due to FGFR3 mutation (c.1620C>A, p.N540K).
Clinical and experimental reproductive medicine 2013;40(1):42-6.
2013: Soo Hyun Seo; Sung Im Cho; Ok-Hwa Kim; Shin-Hye Kim; Mi Jung Park; Seungman Park; Sung Sup Park; Moon-Woo Seong
Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement.
Annals of laboratory medicine 2013;33(2):150-2.
2013: Jae Hong Choi; Hyoung Jin Kang; Hoan Jong Lee; Kyung Duk Park; Sung Sup Park; Hee Young Shin; Eun Hwa Choi; Hyo Seop Ahn
Respiratory viral infections after hematopoietic stem cell transplantation in children.
Journal of Korean medical science 2013;28(1):36-41.
2013: Yongbum Jeon; So Yeon Kim; Seonyang Park; Seungman Park; Sung Sup Park; Eun Kyung Ra; Sang Won Seo; Moon-Woo Seong
Identification of two novel NPM1 mutations in patients with acute myeloid leukemia.
Annals of laboratory medicine 2013;33(1):60-4.
2013: Jeong Su Park; Sung Sup Park; Dong-Hee Cho; Eui-Chong Kim; Moon Young Kim; Son Moon Shin; Jae Hyug Yang; Moon-Woo Seong
Usefulness of a rapid real-time PCR assay in prenatal screening for group B streptococcus colonization.
Annals of laboratory medicine 2013;33(1):39-44.
2013: Dong-Yeop Shin; Sung-Soo Yoon; Ji-Yeon Bae; Hyeon Jin Cho; Kyou Sup Han; Yun-Chul Hong; Eun Joo Kang; Hye Jin Kim; Inho Kim; Jin Hee Kim; Jong-Eun Lee; Kyung-Hun Lee; Yun-Gyoo Lee; Eun-Hee Park; Myoung Hee Park; Seonyang Park; Sung Sup Park; Cha Ja See; Byoung Kook Kim
RANTES polymorphisms and the risk of graft-versus-host disease in human leukocyte antigen-matched sibling allogeneic hematopoietic stem cell transplantation.
Acta haematologica 2013;129(3):137-45.
2012: Hyunwoong Park; Sung Sup Park; Eun Kyung Ra; Moon-Woo Seong
Detection of very large off-ladder alleles at the PentaE locus in a 15 locus autosomal STR database of 199 Korean individuals.
Forensic science international. Genetics 2012;6(6):e189-91.
2012: S Y Kim; Sae-Ick Joo; Eui-Chong Kim; Hong Kim; S Y Kim; Eun Kyung Ra; M-W Seong; S Shin; Chul-Gyu Yoo; Sung Sup Park
The Xpert® MTB/RIF assay evaluation in South Korea, a country with an intermediate tuberculosis burden.
The international journal of tuberculosis and lung disease : the official journal of the International Union against Tuberculosis and Lung Disease 2012;16(11):1471-6.
2012: Sung Kuk Hong; Eui-Chong Kim; Joon Sung Park; Sung Sup Park; Eun Kyung Ra; Sung Im Cho; Moon-Woo Seong
Evaluation of two hepatitis C virus genotyping assays based on the 5' untranslated region (UTR): the limitations of 5' UTR-based assays and the need for a supplementary sequencing-based approach.
Journal of clinical microbiology 2012;50(11):3741-3.
2012: Ki Wook Yun; Jina Lee; Kyoung Un Park; Sung Sup Park; Doo Sung Cheon; Chang Won Choi; Eun Hwa Choi; Hee Hwang; Beyong Il Kim; Hoan Jong Lee
Enteroviral meningitis without pleocytosis in children.
Archives of disease in childhood 2012;97(10):874-8.
2012: Jong Seong Ha; Ki-Sun Kwon; Heon M Lim; Hye Yeong Sung; Sung Sup Park
PI3K-ERK1/2 activation contributes to extracellular H2O2 generation in amyloid β toxicity.
Neuroscience letters 2012;526(2):112-7.
2012: Hwa Jeen Lee; Jung Ae Lee; Seungman Park; Sung Sup Park; Jong Kwan Jun; Hyoung Jin Kang; Dong Soon Lee; Moon-Woo Seong
A case report of Fanconi anemia diagnosed by genetic testing followed by prenatal diagnosis.
Annals of laboratory medicine 2012;32(5):380-4.
2012: Chae Young Hwang; Seung-Min Lee; Sung Sup Park; Ki-Sun Kwon
CDK2 differentially controls normal cell senescence and cancer cell proliferation upon exposure to reactive oxygen species.
Biochemical and biophysical research communications 2012;425(1):94-9.
2012: Jong Seong Ha; Hark Kyun Kim; Seon-Young Kim; Heon M Lim; Hye Yeong Sung; Sung Sup Park
XAGE-1a and XAGE-1d are potential biomarkers of lung squamous cell carcinoma.
Clinica chimica acta; international journal of clinical chemistry 2012;413(15-16):1226-31.
2012: Tae-Joon Cho; In Ho Choi; Hye-Hyun Eom; Shiro Ikegawa; Daehyun Jeon; Ha-Neui Kim; Kyung Jin Kim; Ok-Hwa Kim; Gene Lee; Hye Ran Lee; Kyung-Eun Lee; Sook-Kyung Lee; Zang Hee Lee; Sung Sup Park; Woong-Yang Park; Su Jeong Song; Won Joon Yoo; Jung-Wook Kim
A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.
American journal of human genetics 2012;91(2):343-8.
2012: Jung Min Ko; Sung Sup Park; Moon Woo Seong; Choong Ho Shin; Sei Won Yang; Junghan Song
The first Korean case of lysinuric protein intolerance: presented with short stature and increased somnolence.
Journal of Korean medical science 2012;27(8):961-4.
2012: Su-Yeon Park; Moon-Woo Seong; Sung Im Cho; Yoon-Ho Hong; So Yeon Kim; Sung Sup Park
A novel double mutation in cis in MFN2 causes Charcot-Marie-Tooth neuropathy type 2A.
Neurogenetics 2012;13(3):275-80.
2012: Hye Won Kwon; Sang Yoon Lee; Chung Il Noh; Eun Jung Bae; Sung Im Cho; Gi Beom Kim; Woong-Han Kim; Bo Sang Kwon; Sung Sup Park
Long QT syndrome and dilated cardiomyopathy with SCN5A p.R1193Q polymorphism: cardioverter-defibrillator implantation at 27 months.
Pacing and clinical electrophysiology : PACE 2012;35(8):e243-6.
2012: Jin Wook Jeoung; Mee Kum Kim; Sung Yeun Kim; Hyun Soo Ko; Sung Sup Park; Won Ryang Wee; Jin Hak Lee
VSX1 gene and keratoconus: genetic analysis in Korean patients.
Cornea 2012;31(7):746-50.
2012: S Y Kim; H S Ko; B S Jeon; J Y Kim; S Y Kim; M W Seong; Sung Sup Park
Phase analysis identifies compound heterozygous deletions of the PARK2 gene in patients with early-onset Parkinson disease.
Clinical genetics 2012;82(1):77-82.
2012: Han-Joon Kim; Sung Sup Park; Min-Yung Yoon; Beom S Jeon; Kwang-Woo Lee
Increased expression of α-synuclein by SNCA duplication is associated with resistance to toxic stimuli.
Journal of molecular neuroscience : MN 2012;47(2):249-55.
2012: Hyeon Jin Cho; Kyou Sup Han; Yun-Chul Hong; Byoung Kook Kim; Hyun Kyung Kim; Ji-Yeon Bae; Jin Hee Kim; Naeyu Kim; Dong Soon Lee; Jong-Eun Lee; Kyung-Hun Lee; Eun Kyung Park; Myoung Hee Park; Seonyang Park; Sung Sup Park; Eun Kyung Ra; Cha Ja See; Dong-Yeop Shin; Sung-Soo Yoon; Inho Kim
Impact of vitamin D receptor gene polymorphisms on clinical outcomes of HLA-matched sibling hematopoietic stem cell transplantation.
Clinical transplantation 2012;26(3):476-83.
2012: Yoon Jung Suh; Eun Jung Bae; Jung Yun Choi; GB Kim; Kyung Hwan Kim; Yeon-Ju Kim; Bo Sang Kwon; Hye Won Kwon; Chung Il Noh; Sung Sup Park
A case of near total aortic replacement in an adolescent with loeys-dietz syndrome.
Korean circulation journal 2012;42(4):288-91.
2012: Keun Woo Lee; Seung-Goo Lee; Yu Ran Lee; Jin-Soo Maeng; Hyun Kyu Park; Sung Sup Park; Jeong Yi Choi; Bong Hyun Chung; Soo Hyun Eom; Chae Young Hwang; Hyesung Jeon; Chulhee Kang; Do Han Kim; Yeon-Soo Kim; Ki-Sun Kwon
Role of Junctin protein interactions in cellular dynamics of calsequestrin polymer upon calcium perturbation.
The Journal of biological chemistry 2012;287(3):1679-87.
2012: Seungman Park; Sung Sup Park; Sung Im Cho; Yongbum Jeon; Jun Eun Park; Moon-Woo Seong
The first study on nucleotide-level identification of Hb Koriyama in a patient with severe hemolytic anemia.
Annals of laboratory medicine 2012;32(1):99-101.
2012: Soie Chung; Mi Hee Jang; Sae-Ick Joo; So Yeon Kim; Sung Sup Park; Eun Kyung Ra; Jongyoun Yi; Chulhun L Chang; Eui-Chong Kim
Comparison of modified multiple-locus variable-number tandem-repeat fingerprinting with pulsed-field gel electrophoresis for typing clinical isolates of Staphylococcus aureus.
Annals of laboratory medicine 2012;32(1):50-6.
2012: Seungman Park; Sung Im Cho; Hyoung Jin Kang; So Yeon Kim; Moon-Woo Seong; Sung Sup Park
A case report of a male patient with Hb Hammersmith [β42(CD1)Phe→Ser, TTT>TCT].
Hemoglobin 2012;36(2):161-5.
2012: Jung Jae Lee; Seok Bum Lee; Joon Hyuk Park; Koung Un Park; Sung Sup Park; Jong Inn Woo; Jong Chul Youn; Yoonseok Huh; Jin Hyeong Jhoo; Inho Jo; Sangmee Ahn Jo; Do Kwan Kim; Dong Young Lee; Ki Woong Kim
Choline acetyltransferase 2384G>a polymorphism and the risk of Alzheimer disease.
Alzheimer disease and associated disorders 2012;26(1):81-7.
2011: Hoon Jin; Han-Chul Lee; Sung Sup Park; Yong-Su Jeong; Seon-Young Kim
Serum cancer biomarker discovery through analysis of gene expression data sets across multiple tumor and normal tissues.
Journal of biomedical informatics 2011;44(6):1076-85.
2011: Hee Jin Kim; Han-Joon Kim; So Yeon Kim; Jee-Young Lee; Sung Sup Park; Ji Young Yun; Beom S Jeon
Phenotype analysis in patients with early onset Parkinson's disease with and without parkin mutations.
Journal of neurology 2011;258(12):2260-7.
2011: Ok-Hwa Kim; So Yeon Kim; Gen Nishimura; Chang-Wug OH; Hyunwoong Park; Seungman Park; Sung Im Cho; Tae-Joon Cho; In Ho Choi; Chin Youb Chung; Shiro Ikegawa; Changhoon Jeong; Hyun Woo Kim; Sang Gyo Seo; Moon-Woo Seong; Jong Sup Shim; Hae-Ryong Song; Kwang Soon Song; Andrea Superti-Furga; Sheila Unger; Im Kyung Yeo; Won Joon Yoo; Sung Sup Park
Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.
American journal of medical genetics. Part A 2011;155A(11):2669-80.
2011: Hyewon Park; Myoung Hee Park; Sung Sup Park; Jungwon Hyun; Eun Young Song
False homozygosity results in HLA genotyping due to loss of chromosome 6 in a patient with acute lymphoblastic leukemia.
The Korean journal of laboratory medicine 2011;31(4):302-6.
2011: Mi Kyoung Song; Eun Jung Bae; Jae Suk Baek; Jung Yun Choi; GB Kim; Bo Sang Kwon; Chung Il Noh; Sung Sup Park
QT Prolongation and Life Threatening Ventricular Tachycardia in a Patient Injected With Intravenous Meperidine (Demerol®).
Korean circulation journal 2011;41(6):342-5.
2011: Ji Young Yun; Woong-Woo Lee; Hee Jin Kim; Ji Seon Kim; Jong-Min Kim; Han-Joon Kim; Sung Yeun Kim; Ji Yeon Kim; Sung Sup Park; Yu Kyeong Kim; Sang Eun Kim; Beom S Jeon
Relative contribution of SCA2, SCA3 and SCA17 in Korean patients with parkinsonism and ataxia.
Parkinsonism & related disorders 2011;17(5):338-42.
2011: Yun-Gyoo Lee; Inho Kim; Jin Hee Kim; Ji Yeon Bae; Ji-Hyun Kwon; Dong-Yeop Shin; Jong-Eun Lee; Eun Young Song; Hyun Kyoung Kim; Sung-Soo Yoon; Sung Sup Park; Dong Soon Lee; Kyou Sup Han; Myoung Hee Park; Yun-Chul Hong; Seonyang Park; Byoung Kook Kim
Impact of cytokine gene polymorphisms on risk and treatment outcomes of aplastic anemia.
Annals of hematology 2011;90(5):515-21.
2011: Soie Chung; Jun Sik Kim; Sang Won Seo; Eun Kyung Ra; Sei-Ick Joo; So Yeon Kim; Sung Sup Park; Eui-Chong Kim
A case of brain abscess caused by Propionibacterium acnes 13 months after neurosurgery and confirmed by 16S rRNA gene sequencing.
The Korean journal of laboratory medicine 2011;31(2):122-6.
2011: Jong-Min Kim; Sue K Park; Jae Jeong Yang; Eun-Soon Shin; Jee-Young Lee; Ji Young Yun; Ji Seon Kim; Sung Sup Park; Beom S Jeon
SNPs in axon guidance pathway genes and susceptibility for Parkinson's disease in the Korean population.
Journal of human genetics 2011;56(2):125-9.
2011: Jee-Young Lee; Jinwhan Cho; Eun-Kyung Lee; Sung Sup Park; Beom S Jeon
Differential genetic susceptibility in diphasic and peak-dose dyskinesias in Parkinson's disease.
Movement disorders : official journal of the Movement Disorder Society 2011;26(1):73-9.
2010: So Yeon Kim; Seon Ho Lee; Sung Im Cho; Sang Hoon Song; Yukio Hattori; Sang-Kyu Park; Junghan Song; Yangsun Choi; Mangil Yang; Hyunwoong Park; Sung-Ryul Kim; Moon-Woo Seong; Ji Yeon Kim; Han-Ik Cho; Sung Sup Park
Molecular identification of the novel Gγ-β hybrid hemoglobin: Hb Gγ-β Ulsan (Gγ through 13; β from 19).
Blood cells, molecules & diseases 2010;45(4):276-9.
2010: Hee Kyung Yang; Jeong-Min Hwang; Sung Sup Park; Young Suk Yu
Brain imaging studies in Leber's congenital amaurosis: new radiologic findings associated with the complex trait.
Korean journal of ophthalmology : KJO 2010;24(6):360-3.
2010: Jong Seong Ha; Heon M Lim; Sung Sup Park
Extracellular hydrogen peroxide contributes to oxidative glutamate toxicity.
Brain research 2010;1359():291-7.
2010: Youngil Koh; Inho Kim; Ji Yeon Bae; Eun Young Song; Hyun-Kyung Kim; Sung-Soo Yoon; Dong Soon Lee; Sung Sup Park; Myoung Hee Park; Seonyang Park; Byoung Kook Kim
Prognosis of secondary acute myeloid leukemia is affected by the type of the preceding hematologic disorders and the presence of trisomy 8.
Japanese journal of clinical oncology 2010;40(11):1037-45.
2010: Jae Suk Baek; Eun Jung Bae; Sang Yun Lee; Sung Sup Park; So Yeon Kim; Kyu Nam Jung; Chung Il Noh
Jervell and Lange-Nielsen syndrome: novel compound heterozygous mutations in the KCNQ1 in a Korean family.
Journal of Korean medical science 2010;25(10):1522-5.
2010: Tae-Joon Cho; Ok-Hwa Kim; Hye-Ran Lee; Sung Jin Shin; Won Joon Yoo; Woong-Yang Park; Sung Sup Park; Sung Im Cho; In Ho Choi
Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene.
Journal of Korean medical science 2010;25(7):1105-8.
2010: Inho Kim; Jin Hee Kim; Ji Young Rhee; Jin Won Kim; Hyeon Jin Cho; Eun-Young Cho; Jong-Eun Lee; Yun-Chul Hong; Sung Sup Park; Sung-Soo Yoon; Myoung Hee Park; Seonyang Park; Byoung Kook Kim
Patient HSP70-hom TG haplotype is associated with decreased transplant-related mortality and improved survival after sibling HLA-matched hematopoietic stem cell transplantation.
Clinical transplantation 2010;24(4):459-66.
2010: Jong Seong Ha; Jeong Eun Lee; Jae-Ran Lee; Chul-Sang Lee; Jin-Soo Maeng; Yun Soo Bae; Ki-Sun Kwon; Sung Sup Park
Nox4-dependent H2O2 production contributes to chronic glutamate toxicity in primary cortical neurons.
Experimental cell research 2010;316(10):1651-61.
2010: Ji Hyun Kwon; Inho Kim; Yun Gyoo Lee; Youngil Koh; Hayne Cho Park; Eun Young Song; Hyun Kyung Kim; Sung Soo Yoon; Dong Soon Lee; Sung Sup Park; Hee Young Shin; Seonyang Park; Myoung Hee Park; Hyo Seop Ahn; Byoung Kook Kim
Clinical course of non-severe aplastic anemia in adults.
International journal of hematology 2010;91(5):770-5.
2010: June Dong Park; ByungChan Lim; Ki Joong Kim; Yong Seung Hwang; Seung Ki Kim; Seong-Ho Kang; Sung Im Cho; Sung Sup Park; JS Lee; Jong Hee Chae
Glutaric aciduria type 1 in Korea: report of two novel mutations.
Journal of Korean medical science 2010;25(6):957-60.
2010: Chae Won Shin; Hee Jin Kim; Sung Sup Park; Sung Yeun Kim; Ji Yeon Kim; Beom Seok Jeon
Two Parkinson's disease patients with alpha-synuclein gene duplication and rapid cognitive decline.
Movement disorders : official journal of the Movement Disorder Society 2010;25(7):957-9.
2010: Je Hyun Seo; Jeong-Min Hwang; Sung Sup Park
Antituberculosis medication as a possible epigenetic factor of Leber's hereditary optic neuropathy.
Clinical & experimental ophthalmology 2010;38(4):363-6.
2010: Jong-Min Kim; Jee-Young Lee; Hee Jin Kim; Ji Seon Kim; Yu Kyeong Kim; Sung Sup Park; Sang Eun Kim; Beom S Jeon
The wide clinical spectrum and nigrostriatal dopaminergic damage in spinocerebellar ataxia type 6.
Journal of neurology, neurosurgery, and psychiatry 2010;81(5):529-32.
2010: Moon Woo Seong; Im Kyung Yeo; Sung Im Cho; Chul-Kee Park; Seung Ki Kim; Sun Ha Paek; Dong Gyu Kim; Hee Won Jung; Hyunwoong Park; So Yeon Kim; Ji Yeon Kim; Sung Sup Park
Molecular characterization of the NF2 gene in Korean patients with neurofibromatosis type 2: a report of four novel mutations.
The Korean journal of laboratory medicine 2010;30(2):190-4.
2010: Ok-Hwa Kim; Gen Nishimura; Hae-Ryong Song; Yoshito Matsui; Satoru Sakazume; Masanobu Yamada; Yoko Narumi; Yasemin Alanay; Sheila Unger; Tae-Joon Cho; Sung Sup Park; Shiro Ikegawa; Peter Meinecke; andrea superti-furga
A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases.
American journal of medical genetics. Part A 2010;152A(4):875-85.
2010: Han-Joon Kim; Moon-Woo Seong; Ji Young Yun; Sung Sup Park; Jee-Young Lee; Beom S Jeon
Predicted pathogenic missense mutation of PGRN found in a normal control.
Annals of neurology 2010;67(3):415-6.
2010: Yun Sik Lee; Jae Suk Baek; So Yeon Kim; Sang Won Seo; Bo Sang Kwon; GB Kim; Eun Jung Bae; Sung Sup Park; Chung Il Noh
Childhood brugada syndrome in two korean families.
Korean circulation journal 2010;40(3):143-7.
2010: Jong-Min Kim; Jee-Young Lee; Hee Jin Kim; Ji Seon Kim; Eun-Soon Shin; Jin-Hwan Cho; Sung Sup Park; Beom S Jeon
The LRRK2 G2385R variant is a risk factor for sporadic Parkinson's disease in the Korean population.
Parkinsonism & related disorders 2010;16(2):85-8.
2010: Je Hyun Seo; Jeong-Min Hwang; Sung Sup Park
Comparison of retinal nerve fibre layers between 11778 and 14484 mutations in Leber's hereditary optic neuropathy.
Eye (London, England) 2010;24(1):107-11.
2009: W-W Lee; S Y Kim; Ji Yeon Kim; Hyeoung-Joon Kim; Sung Sup Park; Beom S Jeon
Extrapyramidal signs are a common feature of spinocerebellar ataxia type 17.
Neurology 2009;73(20):1708-9.
2009: Byung Yoon Choi; Andrew K Stewart; Katherine K Nishimura; Won Jae Cha; Moon-Woo Seong; Sung Sup Park; Seung Won Kim; Yang-Sook Chun; Jong Woo Chung; Shi-Nae Park; Sun O Chang; Chong-Sun Kim; Seth L Alper; Andrew J Griffith; Seung-Ha Oh
Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians.
Genetic testing and molecular biomarkers 2009;13(5):679-87.
2009: Jee-Young Lee; Eun Kyung Lee; Sung Sup Park; Ji-Yeon Lim; Hee Jin Kim; Ji Sun Kim; Beom S Jeon
Association of DRD3 and GRIN2B with impulse control and related behaviors in Parkinson's disease.
Movement disorders : official journal of the Movement Disorder Society 2009;24(12):1803-10.
2009: Seong-Ho Kang; Sung Im Cho; Jong-Hee Chae; Kyu Nam Chung; Eun Kyung Ra; So Yeon Kim; Moon-Woo Seong; Ji Yeon Kim; Sung Sup Park
False homozygous deletions of SMN1 exon 7 using Dra I PCR-RFLP caused by a novel mutation in spinal muscular atrophy.
Genetic testing and molecular biomarkers 2009;13(4):511-3.
2009: M-W Seong; Si Cho; D-Y Noh; Wonshik Han; S-W Kim; C-M Park; H-W Park; S Y Kim; J Y Kim; Sung Sup Park
Comprehensive mutational analysis of BRCA1/BRCA2 for Korean breast cancer patients: evidence of a founder mutation.
Clinical genetics 2009;76(2):152-60.
2009: Jong Joo Lee; Jeong Hun Kim; So Yeon Kim; Sung Sup Park; Young Suk Yu
Infantile vitreous hemorrhage as the initial presentation of X-linked juvenile retinoschisis.
Korean journal of ophthalmology : KJO 2009;23(2):118-20.
2009: Jong Seong Ha; Chul-Sang Lee; Jin-Soo Maeng; Ki-Sun Kwon; Sung Sup Park
Chronic glutamate toxicity in mouse cortical neuron culture.
Brain research 2009;1273():138-43.
2009: Jeong-Min Hwang; Ho Kyung Choung; Hyun Soo Ko; Moon-Woo Seong; Ji Yeon Kim; Sung Sup Park
Ophthalmoplegia diagnosis.
Ophthalmology 2009;116(4):813-4, 814.e1-2.
2009: Jin-Whan Cho; Sung-Yeon Kim; Sung Sup Park; Beom S Jeon
The G2019S LRRK2 Mutation is Rare in Korean Patients with Parkinson's Disease and Multiple System Atrophy.
Journal of clinical neurology (Seoul, Korea) 2009;5(1):29-32.
2009: Moon-Woo Seong; Seong Yeon Kim; Young Suk Yu; Jeong-Min Hwang; Ji Yeon Kim; Sung Sup Park
LCA5, a rare genetic cause of leber congenital amaurosis in Koreans.
Ophthalmic genetics 2009;30(1):54-5.
2009: Moon-Woo Seong; Sung Im Cho; Dong-Young Noh; Wonshik Han; Sung-Won Kim; Chul-Min Park; Hyun-Woong Park; So Yeon Kim; Ji Yeon Kim; Sung Sup Park
Low contribution of BRCA1/2 genomic rearrangement to high-risk breast cancer in the Korean population.
Familial cancer 2009;8(4):505-8.
2009: So Yeon Kim; Hyun Soo Ko; Young Suk Yu; Jeong-Min Hwang; Jong Joo Lee; Sung Yeun Kim; Ji Yeon Kim; Moon-Woo Seong; Kyu Hyung Park; Sung Sup Park
Molecular genetic characteristics of X-linked retinoschisis in Koreans.
Molecular vision 2009;15():833-43.
2009: Se Joon Woo; Ji Yeon Kim; Dong Myung Kim; Sung Sup Park; Hyun Soo Ko; Taiwoo Yoo
Investigation of the association between 677C>T and 1298A>C 5,10-methylenetetra- hydrofolate reductase gene polymorphisms and normal-tension glaucoma.
Eye (London, England) 2009;23(1):17-24.
2008: So Yeon Kim; Ji Yeon Kim; Gyoung Pyoung Kim; Jung-Jun Sung; Kyu Sang Lim; Kwang-Woo Lee; Jong Hee Chae; Yoon-Ho Hong; Moon-Woo Seong; Sung Sup Park
Molecular and clinical characteristics of myotonic dystrophy type 1 in koreans.
The Korean journal of laboratory medicine 2008;28(6):483-92.
2008: Ji Hoon Phi; Sung-Hye Park; Jong Hee Chae; Ki Ho Hong; Sung Sup Park; Ji Hyun Kang; Jong Kwan Jun; Byung-Kyu Cho; Kyu-Chang Wang; Seung-Ki Kim
Congenital subependymal giant cell astrocytoma: clinical considerations and expression of radial glial cell markers in giant cells.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2008;24(12):1499-503.
2008: Jin Whan Cho; Sung Yeon Kim; Sung Sup Park; Beom S Jeon
Spinocerebellar ataxia type 12 was not found in Korean Parkinsonian patients.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2008;35(4):488-90.
2008: Hyo Jin Kang; Tae-Sung YOON; Dae Gwin Jeong; Yongmo Kim; Jin Woong Chung; Jong Seong Ha; Sung Sup Park; Seong Eon Ryu; Sanghee Kim; Kwang-Hee Bae; Sang J Chung
Identification of proteins binding to decursinol by chemical proteomics.
Journal of microbiology and biotechnology 2008;18(8):1427-30.
2008: Jin Wook Kim; Sung-Hye Park; Sung Sup Park; Kyu-Chang Wang; Byung-Kyu Cho; So Yeon Kim; Eun Kyung Ra; Chae-Yong Kim; Seung-Ki Kim
Fetus-in-fetu in the cranium of a 4-month-old boy: histopathology and short tandem repeat polymorphism-based genotyping. Case report.
Journal of neurosurgery. Pediatrics 2008;1(5):410-4.
2008: Ho Eun Chang; Se Ran Heo; Kwang Cheol Yoo; Sang Hoon Song; Sung Han Kim; Hong Bin Kim; Kyoung Un Park; Junghan Song; Jae Ho Lee; Sung Sup Park; Eui-Chong Kim
[Detection of mycobacterium tuberculosis complex using real-time polymerase chain reaction].
The Korean journal of laboratory medicine 2008;28(2):103-8.
2008: Moon-Woo Seong; Seong Yeon Kim; Young Suk Yu; Jeong-Min Hwang; Ji Yeon Kim; Sung Sup Park
Molecular characterization of Leber congenital amaurosis in Koreans.
Molecular vision 2008;14():1429-36.
2008: Tae-Beom Ahn; S Y Kim; J Y Kim; Sung Sup Park; Dong Soo Lee; H J Min; Y K Kim; S E Kim; J-M Kim; H-J Kim; J Cho; Beom S Jeon
alpha-Synuclein gene duplication is present in sporadic Parkinson disease.
Neurology 2008;70(1):43-9.
2007: Jae Sung Ko; Jung Han Song; Sung Sup Park; Jeong Kee Seo
Neonatal intrahepatic cholestasis caused by citrin deficiency in Korean infants.
Journal of Korean medical science 2007;22(6):952-6.
2007: Jong-Min Kim; Susie Hong; Gyoung Pyoung Kim; Yoon Jae Choi; Yu Kyeong Kim; Sung Sup Park; Sang Eun Kim; Beom S Jeon
Importance of low-range CAG expansion and CAA interruption in SCA2 Parkinsonism.
Archives of neurology 2007;64(10):1510-8.
2007: Yi Yan; Sung Sup Park; Siegfried Janz; Laurel A Eckhardt
In a model of immunoglobulin heavy-chain (IGH)/MYC translocation, the Igh 3' regulatory region induces MYC expression at the immature stage of B cell development.
Genes, chromosomes & cancer 2007;46(10):950-9.
2007: Kyung-Hun Lee; Sung Sup Park; Inho Kim; Jin Hee Kim; Eun Kyung Ra; Sung-Soo Yoon; Yun-Chul Hong; Seonyang Park; Byoung Kook Kim
P2X7 receptor polymorphism and clinical outcomes in HLA-matched sibling allogeneic hematopoietic stem cell transplantation.
Haematologica 2007;92(5):651-7.
2007: Jin Wook Jeoung; Dong Myung Kim; Hyun Soo Ko; Sung Sup Park; Ji Yeon Kim; Sung Yeun Kim; Tai Woo Yoo
Investigation of the association between normal-tension glaucoma and single nucleotide polymorphisms in natriuretic peptide gene.
Korean journal of ophthalmology : KJO 2007;21(1):33-8.
2007: Inho Kim; Bhumsuk Keam; Kyung-Hun Lee; Jin Hee Kim; So Yeon Oh; Eun Kyung Ra; Sung-Soo Yoon; Sung Sup Park; Chul Soo Kim; Seonyang Park; Yun-Chul Hong; Byoung Kook Kim
Glutathione S-transferase A1 polymorphisms and acute graft-vs.-host disease in HLA-matched sibling allogeneic hematopoietic stem cell transplantation.
Clinical transplantation 2007;21(2):207-13.
2007: Jin-Whan Cho; Sung-Yeon Kim; Sung Sup Park; Han-Jun Kim; Tae-Beom Ahn; Jong-Min Kim; Beom S Jeon
The G2019S LRRK2 mutation is rare in Korean patients with Parkinson's disease.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2007;34(1):53-5.
2007: Inho Kim; Kyung-Hun Lee; Jin Hee Kim; Eun Kyung Ra; Sung-Soo Yoon; Yun-Chul Hong; Sung Sup Park; Chul Soo Kim; Seonyang Park; Byoung Kook Kim
Polymorphisms of the methylenetetrahydrofolate reductase gene and clinical outcomes in HLA-matched sibling allogeneic hematopoietic stem cell transplantation.
Annals of hematology 2007;86(1):41-8.
2006: Joong Su Kim; Seong Su Han; Sung Sup Park; Nicole McNeil; Siegfried Janz
Plasma cell tumour progression in iMycEmu gene-insertion mice.
The Journal of pathology 2006;209(1):44-55.
2006: Jong Seong Ha; Sung Sup Park
Glutamate-induced oxidative stress, but not cell death, is largely dependent upon extracellular calcium in mouse neuronal HT22 cells.
Neuroscience letters 2006;393(2-3):165-9.
2006: Seok Hwan Kim; Ji Yeon Kim; Dong Myung Kim; Hyun Soo Ko; Sung Yeun Kim; Taiwoo Yoo; Seung Sik Hwang; Sung Sup Park
Investigations on the association between normal tension glaucoma and single nucleotide polymorphisms of the endothelin-1 and endothelin receptor genes.
Molecular vision 2006;12():1016-21.
2005: Sung Sup Park; Arthur L Shaffer; Joong Su Kim; Wendy DuBois; Michael Potter; Louis M Staudt; Siegfried Janz
Insertion of Myc into Igh accelerates peritoneal plasmacytomas in mice.
Cancer research 2005;65(17):7644-52.
2005: J Y Kim; J-M Hwang; H S Ko; M-W Seong; B-J Park; Sung Sup Park
Mitochondrial DNA content is decreased in autosomal dominant optic atrophy.
Neurology 2005;64(6):966-72.
2005: Ji Yeon Kim; Sung Yeun Kim; Chong-Ahm Kim; Gyu Sung Yon; Sung Sup Park
Molecular characterization of D- Korean persons: development of a diagnostic strategy.
Transfusion 2005;45(3):345-52.
2005: Sung Sup Park; Joong Su Kim; Lino Tessarollo; James D Owens; Liangping Peng; Seong Su Han; Seung Tae Chung; Ted A Torrey; Wan Cheung Cheung; Roberto D Polakiewicz; Nicole McNeil; Thomas Ried; J Frederic Mushinski; Herbert C Morse; Siegfried Janz
Insertion of c-Myc into Igh induces B-cell and plasma-cell neoplasms in mice.
Cancer research 2005;65(4):1306-15.
2004: Se Joon Woo; Dong Myung Kim; Ji Yeon Kim; Sung Sup Park; Hyun Soo Ko; Taiwoo Yoo
Investigation of the association between OPA1 polymorphisms and normal-tension glaucoma in Korea.
Journal of glaucoma 2004;13(6):492-5.
2004: Chae Young Hwang; Yeung Sook Ryu; Mi-Sun Chung; Kwang Dong Kim; Sung Sup Park; Suhn-Kee Chae; Ho Zoon Chae; Ki-Sun Kwon
Thioredoxin modulates activator protein 1 (AP-1) activity and p27Kip1 degradation through direct interaction with Jab1.
Oncogene 2004;23(55):8868-75.
2004: Keun-Wook Lee; Jongyoun Yi; Tak Yun; Dae-Young Kim; Dong Soon Lee; Sung Sup Park; Han Ik Cho; Sung-Soo Yoon; Seonyang Park; Byoung Kook Kim; Noe Kyeong Kim
Extramedullary relapse confirmed by fluorescence in situ hybridization study of an ear mass in acute promyelocytic leukemia.
International journal of hematology 2004;79(5):462-4.
2004: Seon-Joo Kwon; Sung Sup Park; Jong-Min Kim; Tae-Beom Ahn; Seung Hyun Kim; Juhan Kim; Sung-Hyun Lee; Choong-Kun Ha; Moo-Young Ahn; Beom S Jeon
Investigation of common mitochondrial point mutations in Korea.
Annals of the New York Academy of Sciences 2004;1011():339-44.
2004: Aikaterini Barbouti; Pawel Stankiewicz; Chad Nusbaum; Christina Cuomo; April Cook; Mattias Höglund; Bertil Johansson; Anne Hagemeijer; Sung Sup Park; Felix Mitelman; James R Lupski; Thoas Fioretos
The breakpoint region of the most common isochromosome, i(17q), in human neoplasia is characterized by a complex genomic architecture with large, palindromic, low-copy repeats.
American journal of human genetics 2004;74(1):1-10.
2003: Weimin Bi; Sung Sup Park; Christine J Shaw; Marjorie Withers; Pragna I Patel; James R Lupski
Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.
American journal of human genetics 2003;73(6):1302-15.
2003: Sung Sup Park; Jeongho Kim; John F Brandts; Hyo Jeong Hong
Stability of murine, chimeric and humanized antibodies against pre-S2 surface antigen of hepatitis B virus.
Biologicals : journal of the International Association of Biological Standardization 2003;31(4):295-302.
2003: Pawel Stankiewicz; Christine J Shaw; Jason D Dapper; Keiko Wakui; Lisa Shaffer; Marjorie Withers; Leah Elizondo; Sung Sup Park; James R Lupski
Genome architecture catalyzes nonrecurrent chromosomal rearrangements.
American journal of human genetics 2003;72(5):1101-16.
2003: Ji Yeon Kim; Jeong-Min Hwang; Bong Leen Chang; Sung Sup Park
Spectrum of the mitochondrial DNA mutations of Leber's hereditary optic neuropathy in Koreans.
Journal of neurology 2003;250(3):278-81.
2003: Pawel Stankiewicz; Ken Inoue; Weimin Bi; Katherina Walz; Sung Sup Park; Naohiro Kurotaki; Christine J Shaw; Patricia Fonseca; Jiong Yan; Jennifer A Lee; Mehrdad Khajavi; James R Lupski
Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits.
Cold Spring Harbor symposia on quantitative biology 2003;68():445-54.
2003: Jeong-Min Hwang; Jiyeon Kim; Sung Sup Park
Leber's hereditary optic neuropathy mutations in ethambutol-induced optic neuropathy.
Journal of neurology 2003;250(1):87-9.
2002: Sung Sup Park; Han Ik CHO
Beta-thalassemia in the Korean population.
International journal of hematology 2002;76 Suppl 2():93-5.
2002: Young-Joon Lee; Sung Sup Park; Ji Yeon Kim; Han Ik CHO
RFLP haplotypes of beta-globin gene complex of beta-thalassemic chromosomes in Koreans.
Journal of Korean medical science 2002;17(4):475-8.
2002: Sung Sup Park; Young Joon Lee; Ji Yeon Kim; Sae-Ick Joo; Yukio Hattori; Yuzo Ohba; Han Ik CHO
Beta-thalassemia in the Korean population.
Hemoglobin 2002;26(2):135-45.
2002: Ji Yeon Kim; Jeong-Min Hwang; Sung Sup Park
Mitochondrial DNA C4171A/ND1 is a novel primary causative mutation of Leber's hereditary optic neuropathy with a good prognosis.
Annals of neurology 2002;51(5):630-4.
2002: Sung Sup Park; Pawel Stankiewicz; Weimin Bi; Christine Shaw; Jessica A Lehoczky; Ken Dewar; Bruce Birren; James R Lupski
Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs.
Genome research 2002;12(5):729-38.
2002: Weimin Bi; Jiong Yan; Pawel Stankiewicz; Sung Sup Park; Katherina Walz; Cornelius F Boerkoel; Lorraine Potocki; Lisa Shaffer; koenraad devriendt; Magorzata J M Nowaczyk; Ken Inoue; James R Lupski
Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse.
Genome research 2002;12(5):713-28.
2002: Kee-Oh Chay; Sung Sup Park; J Frederic Mushinski
Linkage of caspase-mediated degradation of paxillin to apoptosis in Ba/F3 murine pro-B lymphocytes.
The Journal of biological chemistry 2002;277(17):14521-9.
2002: M Hur; Eun Young Song; S-H Kang; D-H Shin; Ji Yeon Kim; Sung Sup Park; Han Ik CHO
Lymphoid preponderance and the absence of basophilia and splenomegaly are frequent in m-bcr-positive chronic myelogenous leukemia.
Annals of hematology 2002;81(4):219-23.
2002: Jeong-Min Hwang; Bong Leen Chang; Hyoung Jun Koh; Ji Yeon Kim; Sung Sup Park
Leber's hereditary optic neuropathy with 3460 mitochondrial DNA mutation.
Journal of Korean medical science 2002;17(2):283-6.
2002: Alexander L Kovalchuk; Joong Su Kim; Sung Sup Park; Allen E Coleman; Jerrold M Ward; Herbert C Morse; Tadamitsu Kishimoto; Michael Potter; Siegfried Janz
IL-6 transgenic mouse model for extraosseous plasmacytoma.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(3):1509-14.
2001: Ji Yeon Kim; Sung Sup Park; Sae-Ick Joo; Jong Man Kim; Beom S Jeon
Molecular analysis of Spinocerebellar ataxias in Koreans: frequencies and reference ranges of SCA1, SCA2, SCA3, SCA6, and SCA7.
Molecules and cells 2001;12(3):336-41.
2001: Jeong-Min Hwang; Bong Leen Chang; Sung Sup Park
Leber's hereditary optic neuropathy mutations in Korean patients with multiple sclerosis.
Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift für Augenheilkunde 2001;215(6):398-400.
2001: Pawel Stankiewicz; Sung Sup Park; Ken Inoue; James R Lupski
The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP.
Genome research 2001;11(7):1205-10.
2001: Alexander L Kovalchuk; A Esa; Allen E Coleman; Sung Sup Park; Thomas Ried; Christoph Cremer; Siegfried Janz
Translocation remodeling in the primary BALB/c plasmacytoma TEPC 3610.
Genes, chromosomes & cancer 2001;30(3):283-91.
2001: Ji Yeon Kim; Sung Sup Park; S H Yang; Sae-Ick Joo; Young Joon Lee; E K Ra; S Shin; E C Kim; Han Ik CHO
A Korean family with a dominantly inherited beta-thalassemia due to Hb Durham-N.C./Brescia.
Hemoglobin 2001;25(1):79-89.
2001: Klaus Felix; Alexander L Kovalchuk; Sung Sup Park; Allen E Coleman; E S Ramsay; M Qian; KA Kelliher; GM Jones; Thomas Ried; Georg W Bornkamm; Siegfried Janz
Inducible mutagenesis in TEPC 2372, a mouse plasmacytoma cell line that harbors the transgenic shuttle vector lambdaLIZ.
Mutation research 2001;473(1):121-36.
2000: Alexander L Kovalchuk; Chen-Feng Qi; Ted A Torrey; Lekidelu Taddesse-Heath; Lionel Feigenbaum; Sung Sup Park; Armin Gerbitz; G Klobeck; K Hoertnagel; Axel Polack; Georg W Bornkamm; Siegfried Janz; Herbert C Morse
Burkitt lymphoma in the mouse.
The Journal of experimental medicine 2000;192(8):1183-90.
2000: Sung Sup Park; B K Kim; Chong Jai Kim; W S Kim; In-One Kim; Kwi-Won Park; Hee Young Shin; Hyo Seop Ahn
Colorectal adenocarcinoma as a second malignant neoplasm following rhabdomyosarcoma of the urinary bladder: a case report.
Journal of Korean medical science 2000;15(4):475-7.
2000: Y K Lee; Han Ik CHO; Sung Sup Park; Young-Joon Lee; E Ra; Y H Chang; M Hur; H Y Shin; H S Ahn
Abnormalities of erythrocyte membrane proteins in Korean patients with hereditary spherocytosis.
Journal of Korean medical science 2000;15(3):284-8.
2000: Lorraine Potocki; Daniel G Glaze; D X Tan; Sung Sup Park; Catherine D Kashork; Lisa Shaffer; Russel J Reiter; James R Lupski
Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome.
Journal of medical genetics 2000;37(6):428-33.
2000: Ji Yeon Kim; Sung Sup Park; H L Jung; D H Keum; H Park; Y H Chang; Young Joon Lee; Han Ik CHO
Hb Madrid [beta115(G17)Ala-->Pro] in a Korean family with chronic hemolytic anemia.
Hemoglobin 2000;24(2):133-8.
2000: S Shin; Sung Sup Park; Y S Hwang; K W Lee; S G Chung; Young-Joon Lee; M H Park
Deletion of SMN and NAIP genes in Korean patients with spinal muscular atrophy.
Journal of Korean medical science 2000;15(1):93-8.
2000: Lorraine Potocki; Ken-Shiung Chen; Sung Sup Park; D E Osterholm; Marjorie Withers; Virginia E Kimonis; A M Summers; W S Meschino; K Anyane-Yeboa; Catherine D Kashork; Lisa Shaffer; James R Lupski
Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion.
Nature genetics 2000;24(1):84-7.
1999: Jong Man Kim; S Shin; Ji Yeon Kim; Sae-Ick Joo; Sung Sup Park; J W Kim; Beom S Jeon
Spinocerebellar ataxia type 2 in seven Korean families: CAG trinucleotide expansion and clinical characteristics.
Journal of Korean medical science 1999;14(6):659-64.
1999: Y H Chang; M Hur; D S Lee; Sung Sup Park; B K Kim; S Park; Y Ohba; Y Hattori; Han Ik CHO
The first case of Hb Köln [beta98(FG5)Val-->Met] in Korea.
Hemoglobin 1999;23(3):287-9.