- Clinical application of prenatal chromosomal microarray
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Seol CA
- KMID: 2537685
- J Genet Med.
- 2022 Dec;19(2):43-48.
- doi: 10.5734/JGM.2022.19.2.43
A prenatal chromosomal microarray (CMA) is generally recommended when a major anomaly is suspected on prenatal ultrasonography. As it can overcome the limitations of conventional karyotyping, it is expected that... -
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- First Case of Double T-Cell Receptor Alpha/Delta Rearrangements of t(11;14) and inv(14) and Subsequent JAK2 Rearrangement in a Patient With T-cell Acute Lymphoblastic Leukemia
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Seol CA, Cho YU, Jang S, Park CJ, Lee JH, Seo EJ
- KMID: 2457498
- Ann Lab Med.
- 2020 Jan;40(1):76-79.
- doi: 10.3343/alm.2020.40.1.76
No abstract available. -
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- Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience
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Kim SJ, Joo E, Park J, Seol CA, Lee JE
- KMID: 2553016
- Ann Pediatr Endocrinol Metab.
- 2024 Feb;29(1):38-45.
- doi: 10.6065/apem.2346036.018
Purpose: We used next-generation sequencing (NGS) to investigate the genetic causes of suspected genetic short stature in 37 patients, and we describe their phenotypes and various genetic spectra. Methods: We reviewed... -
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- Beckwith-Wiedemann Syndrome and Jacobsen Syndrome Caused by 11pter Duplication and 11qter Deletion Inherited from Paternal Pericentric Inversion
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Choi WK, Lim SE, Kim GH, Lee BH, Seol CA, Seo EJ
- KMID: 2504138
- Lab Med Online.
- 2020 Jul;10(3):255-261.
- doi: 10.3343/lmo.2020.10.3.255
We report a case of Beckwith-Wiedemann syndrome (BWS) and Jacobsen syndrome (JBS) due to 11pter trisomy and 11qter monosomy caused by paternal inv(11)(p15.1q24.2). The patient was born premature and had... -
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- Langer-Giedion Syndrome with 8q23.1–q24.13 Deletion by Complex Three-way Translocation
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Min S, Seo EJ, Seol CA, Kim GH, Lee BH, Lee DH
- KMID: 2398417
- Lab Med Online.
- 2018 Jan;8(1):29-33.
- doi: 10.3343/lmo.2018.8.1.29
Langer-Giedion syndrome is a very rare genetic disorder that is caused by the deletion on chromosome 8q24.1, encompassing the TRPS1 and EXT1 genes. We describe a 5-month-old female patient who... -
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- The First Korean Case of Disseminated Mycetoma Caused by Nocardia pseudobrasiliensis in a Patient on Long-Term Corticosteroid Therapy for the Treatment of Microscopic Polyangiitis
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Seol CA, Sung H, Kim DH, Ji M, Chong YP, Kim MN
- KMID: 1781328
- Ann Lab Med.
- 2013 May;33(3):203-207.
- doi: 10.3343/alm.2013.33.3.203
Nocardia pseudobrasiliensis is predominantly associated with invasive infections in immunocompromised patients. We report a case of disseminated mycetoma caused by N. pseudobrasiliensis in a 57-yr-old woman with microscopic polyangiitis, who... -
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- POEMS Syndrome: Bone Marrow, Laboratory, and Clinical Findings in 24 Korean Patients
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Shim H, Seol CA, Park CJ, Cho YU, Seo EJ, Lee JH, Yoon DH, Suh CW, Park SH, Jang S
- KMID: 2450951
- Ann Lab Med.
- 2019 Nov;39(6):561-565.
- doi: 10.3343/alm.2019.39.6.561
POEMS syndrome is a rare paraneoplastic syndrome, which includes polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes due to plasma cell (PC) neoplasm. Diagnosis of this disease is challenging because of... -
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- The First Case of Ganciclovir-Resistant Cytomegalovirus Colitis with a 597-600 Deletion in UL97 Gene after Stem Cell Transplantation in Korea
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Seol CA, Ko YJ, Kim SH, Kim MN, Sung H, Lee JH
- KMID: 1971115
- Ann Clin Microbiol.
- 2015 Jun;18(2):64-67.
- doi: 10.5145/ACM.2015.18.2.64
Human cytomegalovirus (CMV) infection has been a major concern in hematopoietic stem cell transplant recipients. Ganciclovir (GCV) resistance results mostly from mutations within the protein kinase UL97 gene. The three... -
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