- Thrombocythemia 1 With THPO Variant (c.13+1G>A) Diagnosed Using Targeted Exome Sequencing: First Case in Korea
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Jung N, Kim DH, Ha JS, Shim YJ
- KMID: 2470334
- Ann Lab Med.
- 2020 Jul;40(4):341-344.
- doi: 10.3343/alm.2020.40.4.341
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- A Novel Heterozygous Missense Variant (c.667G>T;p.Gly223Cys) in USH1C That Interferes With Cadherin-Related 23 and Harmonin Interaction Causes Autosomal Dominant Nonsyndromic Hearing Loss
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Song JS, Bahloul A, Petit C, Kim SJ, Moon IJ, Lee J, Ki CS
- KMID: 2466015
- Ann Lab Med.
- 2020 May;40(3):224-231.
- doi: 10.3343/alm.2020.40.3.224
BACKGROUND: Pathogenic variants of USH1C, encoding a PDZ-domain-containing protein called harmonin, have been known to cause autosomal recessive syndromic or nonsyndromic hearing loss (NSHL). We identified a causative gene in... -
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- Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases: A Single Center Experience
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Kwon WK, Choi S, Kim HJ, Huh HJ, Kang JM, Kim YJ, Yoo KH, Ahn K, Cho HK, Peck KR, Jang JH, Ki CS, Kang ES
- KMID: 2468463
- Allergy Asthma Immunol Res.
- 2020 Mar;12(2):292-305.
- doi: 10.4168/aair.2020.12.2.292
PURPOSE: While there is an urgent need for diagnosis and therapeutic intervention in patients with primary immunodeficiency diseases (PIDs), current genetic tests have drawbacks. We retrospectively reviewed the usefulness of... -
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- Baller-Gerold Syndrome in a Premature Infant with a Mutation in the RECQL4 Gene
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Kim JS
- KMID: 2466646
- Neonatal Med.
- 2019 Nov;26(4):240-245.
- doi: 10.5385/nm.2019.26.4.240
Baller-Gerold syndrome is a rare autosomal recessive disorder characterized by premature fusion of the cranial sutures and malformation of the upper limb extremities at birth. Although the pathogenesis of Baller-Gerold... -
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- A Novel VPS33B Variant Identified by Exome Sequencing in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome
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Lee MJ, Suh CR, Shin JH, Lee JH, Lee Y, Eun BL, Yoo KH, Shim JO
- KMID: 2462099
- Pediatr Gastroenterol Hepatol Nutr.
- 2019 Nov;22(6):581-587.
- doi: 10.5223/pghn.2019.22.6.581
Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare autosomal recessive multisystemic disease that is associated with the liver, kidney, skin, and central nervous and musculoskeletal systems. ARC occurs as a result... -
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- Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG gene
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Heo S, Jang JH, Yu J
- KMID: 2460768
- Ann Pediatr Endocrinol Metab.
- 2019 Sep;24(3):199-202.
- doi: 10.6065/apem.2019.24.3.199
Congenital hypothyroidism (CH) is the most common endocrine disorder in neonates and infants with an incidence of one in 2,000 to one in 4,000 newborns. Primary CH can be caused... -
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- Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders
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Kim YE, Ki CS, Jang MA
- KMID: 2450964
- Ann Lab Med.
- 2019 Sep;39(5):421-429.
- doi: 10.3343/alm.2019.39.5.421
In 2015, the American College of Medical Genetics and Genomics (ACMG), together with the Association for Molecular Pathology (AMP), published the latest guidelines for the interpretation of sequence variants, which... -
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- Genetic Profiles Associated with Chemoresistance in Patient-Derived Xenograft Models of Ovarian Cancer
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Li LY, Kim HJ, Park SA, Lee SH, Kim LK, Lee JY, Kim S, Kim YT, Kim SW, Nam EJ
- KMID: 2454303
- Cancer Res Treat.
- 2019 Jul;51(3):1117-1127.
- doi: 10.4143/crt.2018.405
PURPOSE: Recurrence and chemoresistance (CR) are the leading causes of death in patients with high-grade serous carcinoma (HGSC) of the ovary. The aim of this study was to identify genetic... -
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- An ANKRD11 exonic deletion accompanied by a congenital megacolon in an infant with KBG syndrome
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Seo GH, Oh A, Kang M, Kim EN, Jang JH, Kim DY, Kim KM, Yoo HW, Lee BH
- KMID: 2451626
- J Genet Med.
- 2019 Jun;16(1):39-42.
- doi: 10.5734/JGM.2019.16.1.39
KBG syndrome is an autosomal dominant syndrome presenting with macrodontia, distinctive facial features, skeletal anomalies, and neurological problems caused by mutations in the ankyrin repeat domain 11 (ANKRD11) gene. The... -
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- De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with Alport syndrome in Korea
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Han KH, Park JE, Ki CS
- KMID: 2451970
- Korean J Pediatr.
- 2019 May;62(5):193-197.
- doi: 10.3345/kjp.2018.06772
Alport syndrome (ATS) is an inherited glomerular disease caused by mutations in one of the type IV collagen novel chains (α3, α4, and α5). ATS is characterized by persistent microscopic... -
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- Genome-Wide Association of Genetic Variation in the PSCA Gene with Gastric Cancer Susceptibility in a Korean Population
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Park B, Yang S, Lee J, Woo HD, Choi IJ, Kim YW, Ryu KW, Kim YI, Kim J
- KMID: 2464420
- Cancer Res Treat.
- 2019 Apr;51(2):748-757.
- doi: 10.4143/crt.2018.162
PURPOSE: Half of the world's gastric cancer cases and the highest gastric cancer mortality rates are observed in Eastern Asia. Although several genome-wide association studies (GWASs) have revealed susceptibility genes... -
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- Genitopatellar Syndrome Secondary to De Novo KAT6B Mutation: The First Genetically Confirmed Case in South Korea
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Kim BR, Han JH, Shin JE, Park MS, Park KI, Namgung R, Lee HJ, Lee JS, Eun HS
- KMID: 2450196
- Yonsei Med J.
- 2019 Apr;60(4):395-398.
- doi: 10.3349/ymj.2019.60.4.395
Genitopatellar syndrome (GPS) is a rare disorder characterized by patellar hypoplasia, flexion contractures of the lower limbs, psychomotor retardation and genital and renal anomalies. We report the case of a... -
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- Correlation Between Vanishing White Matter Disease and Novel Heterozygous EIF2B3 Variants Using Next-Generation Sequencing: A Case Report
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Hyun SE, Choi BS, Jang JH, Jeon I, Jang DH, Ryu JS
- KMID: 2449007
- Ann Rehabil Med.
- 2019 Apr;43(2):234-238.
- doi: 10.5535/arm.2019.43.2.234
Vanishing white matter (VWM) disease is an autosomal recessive disorder that affects the central nervous system of a patient, and is caused by the development of pathogenic mutations in any... -
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- A Case of Corneal Dysplasia with Identification of POLH Gene Variants in Xeroderma Pigmentosum
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Shin EH, Lim DH, Kim YD, Woo KI, Han J, Park JE, Chung TY, Ki CS
- KMID: 2443156
- J Korean Ophthalmol Soc.
- 2019 Apr;60(4):380-386.
- doi: 10.3341/jkos.2019.60.4.380
PURPOSE: To discuss the clinical course and diagnosis of corneal dysplasia in a xeroderma pigmentosum patient based on a genetic evaluation. CASE SUMMARY: A 42-year-old female visited our clinic for decreased... -
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- Infantile hypercalcemia with novel compound heterozygous mutation in SLC34A1 encoding renal sodium-phosphate cotransporter 2a: a case report
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Kang SJ, Lee R, Kim HS
- KMID: 2447379
- Ann Pediatr Endocrinol Metab.
- 2019 Mar;24(1):64-67.
- doi: 10.6065/apem.2019.24.1.64
Idiopathic infantile hypercalcemia is characterized by hypercalcemia, dehydration, vomiting, and failure to thrive, and it is due to mutations in 24-hydroxylase (CYP24A1). Recently, mutations in sodium-phosphate cotransporter (SLC34A1) expressed in... -
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- Diagnostic Odyssey and Application of Targeted Exome Sequencing in the Investigation of Recurrent Infant Deaths in a Syrian Consanguineous Family: a Case of Spinal Muscular Atrophy with Respiratory Distress Type 1
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Kim YA, Jin HY, Kim YM
- KMID: 2441911
- J Korean Med Sci.
- 2019 Mar;34(9):e54.
- doi: 10.3346/jkms.2019.34.e54
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive disorder caused by a defect in the immunoglobulin mu binding protein 2 (IGHMBP2) gene, leading to... -
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- Whole Exome Sequencing in the Accurate Diagnosis of Bilateral Breast Cancer: a Case Study
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Li X, Yang M, Zhang Q, Fan Y, Zhu T, Chen F, Wang K
- KMID: 2441858
- J Breast Cancer.
- 2019 Mar;22(1):131-140.
- doi: 10.4048/jbc.2019.22.e10
When faced with a case of bilateral breast cancer (BBC), understanding how to differentiate bilateral primary breast cancer from contralateral metastatic breast cancer is essential for treatment, but clear identification... -
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- A Rare Cause of Life-Threatening Ketoacidosis: Novel Compound Heterozygous OXCT1 Mutations Causing Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency
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Kim YA, Kim SH, Cheon CK, Kim YM
- KMID: 2441309
- Yonsei Med J.
- 2019 Mar;60(3):308-311.
- doi: 10.3349/ymj.2019.60.3.308
Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare inborn error of ketone body utilization, characterized by episodic or permanent ketosis. SCOT deficiency is caused by mutations in the OXCT1 gene,... -
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- Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
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Bong JB, Kim SW, Lee ST, Choi JR, Shin HY
- KMID: 2449297
- J Korean Neurol Assoc.
- 2019 Feb;37(1):69-72.
- doi: 10.17340/jkna.2019.1.13
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), which is caused by mutations in SACS gene, is a very rare neurodegenerative disorder characterized by the clinical triad of early onset cerebellar... -
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- Next generation sequencing and anti-cancer therapy
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Sohn J
- KMID: 2438372
- J Korean Med Assoc.
- 2019 Feb;62(2):119-129.
- doi: 10.5124/jkma.2019.62.2.119
Over the last two decades, the systemic treatment of cancer has evolved from cytotoxic chemotherapy to targeted therapy and now immunotherapy. Next-generation sequencing (NGS) is entering clinical applications for cancer... -
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