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An ANKRD11 exonic deletion accompanied by a congenital megacolon in an infant with KBG syndrome

Seo GH, Oh A, Kang M, Kim EN, Jang JH, Kim DY, Kim KM, Yoo HW, Lee BH

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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Clinical Outcomes of EGFR Exon 20 Insertion Mutations in Advanced Non-small Cell Lung Cancer in Korea

Byeon S, Kim Y, Lim SW, Cho JH, Park S, Lee J, Sun JM, Choi YL, Lee SH, Ahn JS, Park K, Ahn MJ

PURPOSE: Epidermal growth factor receptor (EGFR) exon 20 insertion mutations account for approximately 4% of all EGFR mutations. Given the rarity of this mutation, its clinical outcomes are not fully...
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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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Huge Steatocystoma Multiplex with New Point Mutation in the Exon 1 of KRT 17 Gene

Kim JY, Park JH, Sohng C, Jang YH, Lee SJ, Lee WJ

No abstract available.
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A Novel Germline Mutation in BRCA1 Causes Exon 20 Skipping in a Korean Family with a History of Breast Cancer

Yoon KA, Kong SY, Lee EJ, Cho JN, Chang S, Lee ES

Germline mutations in the BRCA1 and BRCA2 genes are strong genetic factors for predispositions to breast, ovarian, and other related cancers. This report describes a family with a history of...
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Association between 14bp Insertion/Deletion Polymorphism in Exon 8 of HLA-G gene and Oral Squamous Cell Carcinoma in Korean Population

Kang SW, Ban JY

Abnormal HLA-G expression occurs in various diseases such as melanoma, renal cell carcinoma, asthma, and classic Hodgkin's lymphoma. The purpose of this study was to determine whether HLA-G gene is...
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JAK2 exon 12 mutation-positive myeloproliferative neoplasm associated with recurrent thromboembolism

Tavakoli V, Naing S

No abstract available.
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A phosphorylation pattern-recognizing antibody specifically reacts to RNA polymerase II bound to exons

Han J, Lee JH, Park S, Yoon S, Yoon A, Hwang DB, Lee HK, Kim MS, Lee Y, Yang WJ, Youn HD, Kim H, Chung J

The C-terminal domain of RNA polymerase II is an unusual series of repeated residues appended to the C-terminus of the largest subunit and serves as a flexible binding scaffold for...
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Glucose transport 1 deficiency presenting as infantile spasms with a mutation identified in exon 9 of SLC2A1

Lee HH, Hur YJ

Glucose transport 1 (GLUT-1) deficiency is a rare syndrome caused by mutations in the glucose transporter 1 gene (SLC2A1) and is characterized by early-onset intractable epilepsy, delayed development, and movement...
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A Korean case of neurofibromatosis type 1 with an exonic splicing enhancer site mutation

Park S, Sohn YB, Chung IS, Hong JH, Jung EJ, Jeong SY, Jin HS

Neurofibromatosis type 1 (NF1) is an autosomal dominant disease characterized by neurological, cutaneous, and ophthalmological manifestations. A 33-year-old woman with typical symptoms of NF1 visited Ajou University Hospital. Screening of...
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A Novel Insertion in Exon 23 of the TCOF1 Gene in a Newborn Infant with Treacher Collins Syndrome

Yang JH, Cha HH, Yoon HS

Treacher Collins syndrome (TCS) is the most common and well known mandibulofacial dysostosis with characteristic clinical features including downward slanting of palpebral fissures, coloboma of the lower eyelid, hypoplastic zygomatic...
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No Association of DRD4 Exon III Polymorphism with Attention-Deficit Hyperactivity Disorder in Korean Children Population

Cho SC, Park TW, Kim JW, Yoo HJ, Kim BN, Shin MS, Hwang JW

  • KMID: 2291749
  • J Korean Acad Child Adolesc Psychiatry.
  • 2007 Oct;18(2):154-161.
OBJECTIVES: The aim of the current study is to test for the association of DRD4 exon III VNTR polymorphism with attention-deficit hyperactivity disorder(ADHD) in Korean children population. METHODS: 113 Korean children...
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A Case of Wiskott-Aldrich Syndrome with 1316 G Deletion in Exon 10 on X-chromosome Treated with Allogeneic Cord Blood Transplantation

Kwon DG, Lee KG, Jee YH, Chung HJ, Baatartsoget O, Choi KD, Park JE

  • KMID: 2279920
  • Clin Pediatr Hematol Oncol.
  • 2007 Oct;14(2):207-211.
Wiskott-Aldrich syndrome, an X-linked immuno-deficiency disorder caused by mutations of Wiskott-Aldrich syndrome protein (WASP) gene, is characterized by thrombocytopenia, recurrent infections, and eczema. Most of the cases of Wiskott-Aldrich syndrome,...
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Polymorphisms of the CTLA-4 promoter(-318) and exon 1(+49) genes with atopic dermatitis in Korean children

Song TW, Yang HS, Lee KE, Kim KW, Kim ES, Sohn MH, Kim KE

PURPOSE: The gene-encoding cytotoxic T lymphocyte-associated antigen-4(CTLA-4) is one of the candidate genes for conferring susceptibility to atopic dermatitis(AD). The aim of the study was to investigate the association between...
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Deducing Isoform Abundance from Exon Junction Microarray

Kim PR, Oh SJ, Lee SH

  • KMID: 2166192
  • Genomics Inform.
  • 2006 Mar;4(1):33-39.
Alternative splicing (AS) is an important mechanism of producing transcriptome diversity and microarray techniques are being used increasingly to monitor the splice variants. There exist three types of microarrays interrogating...
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Analysis of Complete Exons and Flanking Introns of ABO Gene in Korean B(3) Blood Donors

Lee SG, Cho D, Jeon MJ, Song JW, Shin MG, Shin JH, Suh SP, Ryang DW

  • KMID: 2254107
  • Korean J Blood Transfus.
  • 2006 Dec;17(2):97-105.
BACKGROUND: There have been several studies aimed at determining the presence of the B(3) specific alleles in Korean B(3) blood donors. However, in these samples, only consensus exons 6 and...
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HExDB: Human EXon DataBase for Alternative Splicing Pattern Analysis

Park J, Lee M, Bhak J

  • KMID: 1572678
  • Genomics Inform.
  • 2005 Sep;3(3):80-85.
HExDB is a database for analyzing exon and splicing pattern information in Homo sapiens. HExDB is useful for specific purposes: 1) to design primers for exon amplification from cDNA and...
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A Case of Wiskott-Aldrich Syndrome with Novel Mutation in Exon 2 of the WASP Gene

Lee H, Park JI, Kim SY, Moon KH, Yi HK, Hwang PH

  • KMID: 2278632
  • Korean J Pediatr.
  • 2005 May;48(5):551-556.
Wiskott-Aldrich syndrome(WAS) is an X-linked recessive immunodeficiency characterized by thrombocytopenia with small platelet volume, eczema, and recurrent infections, and is also characterized by increased incidence of auto immune diseases and...
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The Relationship Between the C1818T Polymorphism in Exon 4 of the klotho Gene with Fasting Glucose and Insulin Levels in Korean Women

Oh KW, Yun EJ, Rhee EJ, Lee WY, Baek KH, Yoon KH, Kang MI, Kim SG, Park CY, Ihm SH, Choi MG, Yoo HJ, Park SW

  • KMID: 2177774
  • J Korean Diabetes Assoc.
  • 2005 May;29(3):189-197.
BACKGROUND: A novel gene, termed klotho has been identified as a suppressor of several aging phenotypes, and a genetic defect of klotho in mice resulted in a syndrome resembling human...
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A Study of Susceptibility between Allergic Rhinitis and IL-13 Exon 4 G2044A Gene Polymorphism Study in Korean

Lee JH, Choi TW, Lee JH, Choi SH, Kim MS, Min JY, Kim JJ

  • KMID: 2276339
  • Korean J Otolaryngol-Head Neck Surg.
  • 2005 Jan;48(1):61-64.
BACKGROUND AND OBJECTIVES: High total serum IgE level is one of the characteristics seen in allergic rhinitis. IL-13 provides impetus to immunoglobulin class switching to IgE. The IL-13 promoter single...
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