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Characteristics of DNMT3A mutations in acute myeloid leukemia

Park DJ, Kwon A, Cho BS, Kim HJ, Hwang KA, Kim M, Kim Y

BACKGROUND: DNMT3A mutations occur in approximately 20% of AML cases and are associated with changes in DNA methylation. CDKN2B plays an important role in the regulation of hematopoietic progenitor cells...
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Genetic Characterization of Molecular Targets in Korean Patients with Gastrointestinal Stromal Tumors

Park J, Yoo HM, Sul HJ, Shin S, Lee SW, Kim JG

PURPOSE: Gastrointestinal stromal tumors (GISTs) frequently harbor activating gene mutations in either KIT or platelet-derived growth factor receptor A (PDGFRA) and are highly responsive to several selective tyrosine kinase inhibitors....
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Missense Mutations in the CTSC Gene in Saudi Families Segregating Papillon-Lefèvre Syndrome

Albalawi A, Hashmi JA, Alfadhli F, Almatrafi , Ramzan K, Basit S

No abstract available.
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Prognostic Role of KRAS mRNA Expression in Breast Cancer

Hwang KT, Kim BH, Oh S, Park SY, Jung J, Kim J, Choi IS, Jeon SY, Kim WY

PURPOSE: We investigated the prognostic role of KRAS mRNA expression in breast cancer using The Cancer Genome Atlas (TCGA) and Molecular Taxonomy of Breast Cancer International Consortium (METABRIC) databases. METHODS: Clinical...
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Novel Mutation in KCNQ2 Causing Ohtahara Syndrome

Yoon DH, Moon JU, Lee JY, Lee IG

No abstract available.
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ABO*B3.01 Found in the A1B3 Phenotype Showing ABO Discrepancy: The First Case in Korea

Kim N, Yu H, Lee J, Kim DS, Lee HS, Chung YN, Cho YG, Cho D

B₃ is a rare finding, but it is most common in the B subgroup, which been reported as being 0.025% of the total B group in Koreans. ABO*B3.01 is a...
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A Case of Lynch Syndrome with the Deletion of Multiple Exons of the MLH1 Gene, Detected by Next-Generation Sequencing

Hong J, Kim H, Hong YS, Lee W, Lim SB, Byeon JS, Chun S, Min WK

A 26-year-old man underwent colonoscopy to investigate weight loss and a lesion suspicious of colorectal cancer was detected. He had a family history of colorectal cancer and hepatocellular carcinoma. The...
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Periventricular nodular heterotopia in a child with a mild Mowat–Wilson phenotype caused by a novel missense mutation of ZEB2

Kim YO, Lee YY, Kim MK, Woo YJ

Periventricular nodular heterotopia (PNH) is a malformation of cortical development in which normal neurons inappropriately cluster in periventricular areas. Patients with Mowat–Wilson syndrome (MWS) typically present with facial gestalt, complex...
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Eradication Therapy for Helicobacter pylori with Diagnostic Test for Clarithromycin Resistance

Kim YJ, Chung WC

Addressing the increasing antibiotic resistance, including clarithromycin resistance, which affects Helicobacter pylori (H. pylori) eradication therapy, is a challenge for clinicians. Antibiotic resistance is the main reason for H. pylori...
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Hyperglycemia in pediatric age: could it be maturity onset diabetes of the young? Case reports and review of the literature

Cascais M, Pereira E, Vieira A, Venâncio , Ramos L, Moleiro P

Maturity Onset Diabetes of the Young (MODY) includes a clinically and genetically heterogeneous group of diabetes subtypes with MODY-2 being the second most prevalent form. We report 2 cases of...
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First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln)

Lee CG, Jang JH, Seo JY

Tatton-Brown-Rahman Syndrome (TBRS), an overgrowth syndrome caused by heterozygous mutation of DNMT3A, first was described in 2014. Approximately 60 DNMT3A variants, including 32 missense variants, have been reported, with most...
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Hemophilia A in a Female Patient with Recurrent Vitreous Hemorrhage

Kim HJ, Nam MS, Choo HK, Kim SH

PURPOSE: To report a case of recurrent intraocular hemorrhage due to type A hemophilia in a female patient without any previous medical history. CASE SUMMARY: A 51-year-old female patient without any...
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A Multi-institutional Study of Prevalence and Clinicopathologic Features of Non-invasive Follicular Thyroid Neoplasm with Papillary-like Nuclear Features (NIFTP) in Korea

Seo JY, Park JH, Pyo JY, Cha YJ, Jung CK, Song DE, Kwak JJ, Park SY, Na HY, Kim JH, Seok JY, Kim HS, Hong SW

BACKGROUND: In the present multi-institutional study, the prevalence and clinicopathologic characteristics of non-invasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) were evaluated among Korean patients who underwent thyroidectomy for...
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Bevacizumab Plus Erlotinib Combination Therapy for Advanced Hereditary Leiomyomatosis and Renal Cell Carcinoma-Associated Renal Cell Carcinoma: A Multicenter Retrospective Analysis in Korean Patients

Choi Y, Keam B, Kim M, Yoon S, Kim D, Choi JG, Seo JY, Park I, Lee JL

PURPOSE: Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a rare genetic syndrome resulting from germline mutations in fumarate hydratase. The combination of bevacizumab plus erlotinib showed promising interim results...
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Novel Association of a Familial TGFBR1 Mutation in Loeys-Dietz Syndrome with Concomitant Hematologic Malignancy

Disha K, Schulz S, Breuer M, Owais T, Girdauskas E, Kuntze T

Concomitant Loeys-Dietz syndrome (LDS) and hematologic malignancies are exceptionally rare. This is the first report of a patient operated on for aortic root dilation who had been previously diagnosed with...
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Waardenburg Syndrome Type IV De Novo SOX10 Variant Causing Chronic Intestinal Pseudo-Obstruction

Hogan AR, Rao KA, Thorson WL, Neville HL, Sola JE, Perez EA

Waardenburg syndrome (WS) type IV is characterized by pigmentary abnormalities, deafness and Hirschsprung's disease. This syndrome can be triggered by dysregulation of the SOX10 gene, which belongs to the SOX...
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Clarithromycin resistance and female gender affect Helicobacter pylori eradication failure in chronic gastritis

Chang YW, Ko WJ, Oh CH, Park YM, Oh SJ, Moon JR, Cho JH, Kim JW, Jang JY

BACKGROUND/AIMS: The eradication rate of the first-line triple therapy (a proton pump inhibitor, clarithromycin, and amoxicillin) for Helicobacter pylori infection has gradually decreased in Korea. We evaluated whether clinical parameters,...
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Role of Androgen Receptor in Prostate Cancer: A Review

Fujita K, Nonomura N

Androgen receptor (AR) is a steroid receptor transcriptional factor for testosterone and dihydrotestosterone consisting of four main domains, the N-terminal domain, DNA-binding domain, hinge region, and ligand-binding domain. AR plays...
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Case of D-Variant from a Frameshift Mutation RHD 711delC

Ma T, Yu H, Jeon S, Cho D, Chun S, Shin MG

D antigens are clinically significant, and routine tests on the D antigen requires the inclusion of weak D testing, which is performed using indirect antihuman immunoglobulin methods. On the other...
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Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan

Rashid MU, Khan FA, Muhammad N, Loya A, Hamann U

PURPOSE: Partner and localizer of BRCA2 (PALB2) is a breast cancer susceptibility gene that plays an important role in DNA repair. This is the first study assessing the prevalence of...
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