- Progressive Cognitive and Behavioral Changes With Leukodystrophy due to ABCD1 Gene Mutation
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Park J, Lee S, Lee H, Lee JS, Seong MW, Kim HJ
- KMID: 2536279
- Dement Neurocogn Disord.
- 2022 Oct;21(4):162-164.
- doi: 10.12779/dnd.2022.21.4.162
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- Congenital Stationary Night Blindness due to Novel TRPM1 Gene Mutations in a Korean Patient
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Lee YJ, Joo K, Seong MW, Park KH, Park SS, Woo SJ
- KMID: 2507416
- Korean J Ophthalmol.
- 2020 Apr;34(2):170-172.
- doi: 10.3341/kjo.2019.0080
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- SPG11 Mutation in Hereditary Spastic Paraplegia with Thin Corpus Callosum Diagnosed by Targeted Gene Panel Sequencing
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Kim H, Min YG, Hong SB, Kim MJ, Seong MW, Shin JY
- KMID: 2508654
- J Korean Neurol Assoc.
- 2020 Nov;38(4):359-361.
- doi: 10.17340/jkna.2020.4.27
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- Retinitis Pigmentosa Associated with Bardet-Biedl Syndrome with BBS9 Gene Mutation in a Korean Patient
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Kim YH, Joo KS, Seong MW, Park SS, Woo SJ
- KMID: 2469294
- Korean J Ophthalmol.
- 2020 Feb;34(1):94-95.
- doi: 10.3341/kjo.2019.0083
No abstract available. -
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- Erratum: Cardiomyopathies with Mixed and Inapparent Morphological Features in Cardiac Troponin I3 Mutation
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Sohn DW, Kim HK, Kim YJ, Oh S, Seong MW, Park SS
- KMID: 2392897
- Korean Circ J.
- 2017 Jul;47(4):540-540.
- doi: 10.4070/kcj.2016.0445
In the article, “Cardiomyopathies with Mixed and Inapparent Morphological Features in Cardiac Troponin I3 Mutation†in Volume 47(3), page 413-417, arrows in Fig. 5C were misplaced. -
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- Molecular basis and diagnosis of thalassemia
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Lee JS, Cho SI, Park SS, Seong MW
- KMID: 2515297
- Blood Res.
- 2021 Apr;56(S1):S39-S43.
- doi: 10.5045/br.2021.2020332
Thalassemia is characterized by the impaired synthesis of globin chains due to disease-causing variants in α- or β-globin genes. In this review, we provide an overview of the molecular basis... -
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- Erratum: Correction of Table: Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases
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Kim MS, Joo K, Seong MW, Kim MJ, Park KH, Park SS, Woo SJ
- KMID: 2456261
- J Korean Med Sci.
- 2019 Sep;34(35):e245.
- doi: 10.3346/jkms.2019.34.e245
The authors regret that there were errors in Table 2 and Supplementary Table. -
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- Pitfalls of ABO Genotyping Based on Targeted Single Nucleotide Variant Analysis Due to a Nondeletional O Allele Lacking c.261delG: First Report of ABO*O.09.01 in Korea
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Yang D, Kim B, Song DY, Kim TY, Kim MJ, Cho SI, Kim H, Seong MW, Park SS
- KMID: 2450961
- Ann Lab Med.
- 2019 Nov;39(6):599-601.
- doi: 10.3343/alm.2019.39.6.599
No abstract available. -
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- Corrigendum: Clinical Characteristics and Neurologic Outcomes of X-Linked Myotubular Myopathy
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Woo H, Lee S, Han JY, Kim WJ, Kim MJ, Seong MW, Kim SY, Cho A, Lim BC, Kim KJ, Chae JH
- KMID: 2548642
- Ann Child Neurol.
- 2022 Oct;30(4):220-220.
- doi: 10.26815/acn.2022.00171.e1
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- Fabry Disease that Phenocopies Hypertrophic Cardiomyopathy: a thorough Genetic ‘Detective’ Identifies the ‘Rogue’ Hidden in the GLA Gene
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Kwon S, Lee SP, Park SS, Kim BJ, Kim HK, Cho HJ, Seong MW, Sohn DW
- KMID: 2444967
- Korean Circ J.
- 2019 May;49(5):461-464.
- doi: 10.4070/kcj.2018.0404
No abstract available. -
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- A Case of Familial Stickler Syndrome in a Newborn with COL2A1 Gene Mutation
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Kim HY, Choi MS, Seong MW, Park SS, Park SK
- KMID: 2280961
- Korean J Perinatol.
- 2014 Jun;25(2):100-104.
- doi: 10.14734/kjp.2014.25.2.100
Stickler syndrome is a progressive, hereditary disorder of connective tissue caused by mutations in different collagen genes. It is characterized by distinctive ocular, auditory, skeletal and oro-facial abnormalities and associated... -
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- A Case of Locally Advanced Breast Cancer Complicated by Pulmonary Tumor Thrombotic Microangiopathy
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Kim HJ, Kwak MH, Kong SY, Seong MW, Kang HS, Lee KS, Ro J
- KMID: 1804887
- Cancer Res Treat.
- 2012 Dec;44(4):267-270.
Pulmonary tumor thrombotic microangiopathy (PTTM) is a rare, malignancy-related complication that causes marked pulmonary hypertension, right heart failure, and death. We report on a patient with locally advanced breast cancer... -
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- Bietti Crystalline Retinopathy Confirmed by Mutation of CYP4V2 Gene in a Korean Patient
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Park YJ, Hwang DJ, Seong MW, Park SS, Woo SJ
- KMID: 2363897
- Korean J Ophthalmol.
- 2016 Feb;30(1):81-83.
- doi: 10.3341/kjo.2016.30.1.81
No abstract available. -
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- Cardiomyopathies with Mixed and Inapparent Morphological Features in Cardiac Troponin I3 Mutation
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Sohn DW, Kim HK, Kim YJ, Oh S, Seong MW, Park SS
- KMID: 2385397
- Korean Circ J.
- 2017 May;47(3):413-417.
- doi: 10.4070/kcj.2016.0302
The fact that different types of cardiomyopathies can be manifested by the same sarcomere protein gene mutation in a single family is well known. However, mixed features of different types... -
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- Two Cases of Facioscapulohumeral Muscular Dystrophy 2 in Korea
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Lee JH, Park HJ, Seong MW, Park SS, Choi YC
- KMID: 2509867
- Yonsei Med J.
- 2021 Jan;62(1):95-98.
- doi: 10.3349/ymj.2021.62.1.95
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscular disorder characterized by weakness of facial, shoulder, abdominal, hip girdle, humeral, and anterior distal leg muscles, with descending progression from the... -
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- COVID-19 Molecular Testing in Korea: Practical Essentials and Answers From Experts Based on Experiences of Emergency Use Authorization Assays
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Sung H, Roh KH, Hong KH, Seong MW, Ryoo N, Kim HS, Lee J, Kim SY, Yoo S, Kim MN, Han MG, Lee SW, Lee H, Yoo CK, on behalf of COVID-19 Diagnosis Test Management Committee established by Korea Centers for Disease Control and Prevention
- KMID: 2507789
- Ann Lab Med.
- 2020 Nov;40(6):439-447.
- doi: 10.3343/alm.2020.40.6.439
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- Erratum: COVID-19 Molecular Testing in Korea: Practical Essentials and Answers From Experts Based on Experiences of Emergency Use Authorization Assays
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Sung H, Roh KH, Hong KH, Seong MW, Ryoo N, Kim HS, Lee J, Kim SY, Ryu SW, Kim MN, Han MG, Lee SW, Lee H, Yoo CK, on behalf of COVID-19 Diagnosis Test Management Committee established by Korea Centers for Disease Control and Prevention
- KMID: 2512744
- Ann Lab Med.
- 2021 Jan;41(1):126-127.
- doi: 10.3343/alm.2021.41.1.126
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- The First Study on Nucleotide-level Identification of Hb Koriyama in a Patient with Severe Hemolytic Anemia
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Park S, Park JE, Cho SI, Jeon Y, Park SS, Seong MW
- KMID: 1781447
- Ann Lab Med.
- 2012 Jan;32(1):99-101.
- doi: 10.3343/alm.2012.32.1.99
Hereditary hemolytic anemia comprises a group of disorders in which red blood cells are destroyed faster than they are produced in the bone marrow; various hereditary factors can cause this... -
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- Multiplex Ligation Dependent Probe Amplification (MLPA) Assay on Joseon Mummified Samples from Archaeological Sites of South Korea
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Kim YS, Oh CS, Hong JH, Seong MW, Shin DH
- KMID: 2068824
- Korean J Phys Anthropol.
- 2015 Sep;28(3):137-143.
- doi: 10.11637/kjpa.2015.28.3.137
Multiplex Ligation dependent Probe Amplification (MLPA) to detect large deletions or duplications has been widely used as a diagnostic tool for various disease clinically. As this method requires only a... -
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- Identification of a Novel De Novo Mutation of the TAZ Gene in a Korean Patient with Barth Syndrome
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Yoo TY, Kim MR, Son JS, Lee R, Bae SH, Chung S, Kim KS, Seong MW, Park SS
- KMID: 2308705
- J Cardiovasc Ultrasound.
- 2016 Jun;24(2):153-157.
- doi: 10.4250/jcu.2016.24.2.153
Barth syndrome (BTHS) is a rare genetic disorder characterized by various types of cardiomyopathy, neutropenia, failure to thrive, skeletal myopathy, and 3-methylglutaconic aciduria. BTHS is caused by loss-of-function mutations in... -
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