Skip Navigation
Skip to contents
Results by Year

View Wide

Filter

ARTICLE TYPE

PUBLICATION DATE

50 results
Display

Association of Tumor Necrosis Factor-α Gene Promotor Variant, Not Interleukin-10, with Febrile Seizures and Genetic Epilepsy with Febrile Seizure Plus

Choi J, Choi SA, Kim SY, Kim H, Lim BC, Hwang H, Chae JH, Kim KJ, Oh S, Shin JS

PURPOSE: Cytokines demonstrate active roles in the occurrence of febrile seizures (FS). However, whether a genetic predisposition to inflammation is implicated in FS, febrile seizure plus (FS+) or genetic epilepsy...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Association of Tumor Necrosis Factor-α Gene Promotor Variant, Not Interleukin-10, with Febrile Seizures and Genetic Epilepsy with Febrile Seizure Plus

Choi J, Choi SA, Kim SY, Kim H, Lim BC, Hwang H, Chae JH, Kim KJ, Oh S, Shin JS

PURPOSE: Cytokines demonstrate active roles in the occurrence of febrile seizures (FS). However, whether a genetic predisposition to inflammation is implicated in FS, febrile seizure plus (FS+) or genetic epilepsy...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Cis-AB, the Blood Group of Many Faces, Is a Conundrum to the Novice Eye

Chun S, Choi S, Yu H, Cho D

Cis-AB, a rare ABO variant, is caused by a gene mutation that results in a single glycosyltransferase enzyme with dual A and B glycosyltransferase activities. It is the most frequent...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Primary Autosomal Recessive Distal Renal Tubular Acidosis Caused by a Common Homozygous SLC4A1 Mutation in Two Lao Families

Park E, Phaymany V, Yi ES, Phangmanixay S, Cheong HI, Choi Y

Primary distal renal tubular acidosis (dRTA) caused by mutations of the SLC4A1 gene, which encodes for erythroid and kidney isoforms of anion exchanger, shows marked difference in inheritance patterns and...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Prenatally Diagnosed and Surviving Patient with Jarcho-Levin Syndrome: Case Report with Literature Review

Lee CY, Lee NM, Yi DY, Yun SW, Chae SA, Lim IS, Kim GJ

Jarcho-Levin syndrome is a congenital disorder characterized by several vertebral and costal anomalies. Other abnormalities have also been described, including neural tube defects, Arnold-Chiari malformation, renal/urinary tract abnormalities, hydrocephalus, hydroureteronephrosis,...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Pedigree Analysis and Audiological Investigations of Otosclerosis: An Extended Family Based Study

Rekha S, Ramalingam R, Parani M

BACKGROUND AND OBJECTIVES: To analyse the audiometric profile and the pedigree of a large family with otosclerosis to understand the inheritance pattern and its implication in clinical management of the...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Malnutrition-induced Acquired Palmoplantar Keratoderma: A Case Report

Yun JW, Woo Y, Kim M, Park HJ

  • KMID: 2391169
  • Korean J Dermatol.
  • 2017 Aug;55(7):454-456.
Palmoplantar keratoderma is characterized clinically by excessive thickening of the skin and histologically by hyperkeratosis on the palms and soles. It can be classified based on inheritance patterns, causes, clinical...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
The Prevalence and Genetic Pattern of Clinodactyly in Korean Populations

Song D, Chung J, Shin HG, Jung SJ, Lee JH

Clinodactyly, as rare congenital malformation, refers to a curvature of a digit in a radial or ulnar direction in the coronal plane. The abnormality is inherited as an autosomal dominant...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Episodic Ataxias: Clinical and Genetic Features

Choi KD, Choi JH

Episodic ataxia (EA) is a clinically heterogeneous group of disorders that are characterized by recurrent spells of truncal ataxia and incoordination lasting minutes to hours. Most have an autosomal dominant...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Two cases of Antley-Bixler syndrome caused by mutations in different genes, FGFR2 and POR

Woo H, Ko JM, Shin CH, Yang SW

Antley-Bixler syndrome (ABS) is a rare form of syndromic craniosynostosis with additional systemic synostosis, including radiohumeral or radioulnar synostosis. Another characteristic feature of ABS is mid-facial hypoplasia that leads to...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Epigenetics: A key paradigm in reproductive health

Bunkar N, Pathak N, Lohiya NK, Mishra PK

It is well established that there is a heritable element of susceptibility to chronic human ailments, yet there is compelling evidence that some components of such heritability are transmitted through...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Combined use of a double-lumen tube and Fogarty catheter to prevent the endobronchial spread of infection: a case report

Kim J, Lee H, Park H, Jeong CY

Huntington's disease is a neurodegenerative disorder with an autosomal dominant inheritance pattern. Patients with Huntington's disease show an increased risk of aspiration pneumonia when the pharyngeal muscle is invaded. We...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Copy Number Variation Burden on Asthma Subgenome in Normal Cohorts Identifies Susceptibility Markers

Vishweswaraiah S, Veerappa A, Mahesh PA, Jahromi SR, Ramachandra NB

PURPOSE: Asthma is a complex disease caused by interplay of genes and environment on the genome of an individual. Copy number variations (CNVs) are more common compared to the other...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Etiology of Hearing Loss and Genetic Hearing Loss

Kim SY, Choi BY

Hearing loss is one of the most common sensory disorders and has numerous environmental and genetic factors that influence its onset and development. Hearing loss can be classified by either...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Genetic Studies of Rheumatoid Arthritis: Progress and Challenges

Kang C

Rheumatoid arthritis (RA) is a systemic inflammatory disease associated with both genetic and environmental factors. The DRB1 gene at the human leukocyte antigen (HLA) locus of chromosome 6p21.3 was the...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
A Case of Schinzel-Giedion Syndrome

Park KH, Hwang SH, Byun SY

Schinzel-Giedion syndrome (SGS) is a rare malformation syndrome characterized by severe midface retraction, multiple congenital malformations including hydronephrosis, congenital heart defect, skeletal anomalies and hypertrichosis, and a higher prevalence of...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Microvascular Decompression for Familial Hemifacial Spasm : Single Institute Experience

Park JH, Jo KI, Lee HS, Lee JA, Park K

OBJECTIVE: The purpose of this study was to evaluate the characteristics and surgical outcomes of familial hemifacial spasm (HFS) and to discuss the role of genetic susceptibility. METHODS: Between 2001 and...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
The role of scientific evidence in the management of high-risk groups using genetic information

Park SK, Kang D, Park S, Kang DY, Park B, Kim S, Ma SH, Sung H, Park BJ

  • KMID: 2341702
  • J Korean Med Assoc.
  • 2011 Mar;54(3):266-274.
Genetic factors are important host factors that play a role in the development of all diseases through their interaction with environmental factors. Most genetic disorders are the direct result of...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Investigation of Genetic Evidence for Sasang Constitution Types in South Korea

Lee MK, Jang ES, Sohn HY, Park JY, Koh BH, Sung J, Kim JI, Kim JY, Seo JS

  • KMID: 2053229
  • Genomics Inform.
  • 2009 Jun;7(2):107-110.
In Sasang constitutional medicine, both disease susceptibility and drug response are considered to be related to the characteristics of an individual's physiology and psychology: a theory which is central...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
A Case of Familial Anterior Cervical Hypertrichosis

Lee GY, Choi HY, Myung KB, Choi YW

  • KMID: 2247988
  • Korean J Dermatol.
  • 2009 Mar;47(3):368-370.
Anterior cervical hypertrichosis (ACH) refers to a patch of hair that is presented at the lower anterior aspect of the neck just above the sternal notch along the cervical midline....
CITED
export Copy
Close
SHARE
Twitter Facebook
Close

Go to Top

Copyright © 2021 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr