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The Genetic Studies of Obsessive-Compulsive Disorder and Its Future Directions

Kim SJ, Kim CH

Obsessive-compulsive disorder (OCD) is characterized by recurrent and persistent thoughts (obsessions), and repetitive behaviors or mental acts (compulsions). In Korea, an epidemiological study reported that the lifetime prevalence of OCD...
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RFLP Haplotypes of beta-Globin Gene Complex of beta-Thalassemic Chromosomes in Koreans

Lee YJ, Park SS, Kim JY, Cho HI

Korea is in the low-prevalence area of beta-thalassemia and the Korean population has relatively homogenous racial characteristics. Recently, we identified some causative mutations of the Korean beta-thalassemia patients. In order...
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Heritability and linkage study on heart rates in a Mongolian population

Gombojav B, Park H, Kim JI, Ju YS, Sung J, Cho SI, Lee MK, Ohrr H, Radnaabazar J, Seo JS

Elevated heart rate has been proposed as an independent risk factor for cardiovascular diseases, but their interrelationships are not well understood. In this study, we performed a genome-wide linkage scan...
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SERPINE2 Polymorphisms and Chronic Obstructive Pulmonary Disease

Cha SI, Kang HG, Choi JE, Kim MJ, Park J, Lee WK, Kim CH, Jung TH, Park JY

A number of genome-wide linkage analyses have identified the 2q33.3-2q37.2 region as most likely to contain the genes that contribute to the susceptibility to chronic obstructive pulmonary disease (COPD). It...
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X-chromosome Inactivation Patterns in Korean Women with Idiopathic Recurrent Spontaneous Abortion

Kim JW, Park SY, Kim YM, Kim JM, Han JY, Ryu HM

Recurrent spontaneous abortion (RSA) defines as two or more consecutive losses at < or =20 weeks of gestation and affects an estimated 1 of every 100 couples wishing to have...
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Molecular Analysis of X-linked Chronic Granulomatous Disease in Five Unrelated Korean Patients

Oh HB, Park JS, Lee W, Yoo SJ, Yang JH, Oh SY

Chronic granulomatous disease (CGD) is a fatal genetic disorder in which phagocytes fail to produce antimicrobial superoxide because of NADPH oxidase deficiency. Molecular defects in CYBB gene causing X-linked CGD...
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Association of polymorphisms in the Interleukin 23 receptor gene with osteonecrosis of femoral head in Korean population

Kim TH, Hong JM, Oh B, Cho YS, Lee JY, Kim HL, Lee JE, Ha MH, Park EK, Kim SY

Osteonecrosis of the femoral head (ONFH) is known as death of the cellular portion of the femoral head due to an interruption in the vascular supply. The underlying pathophysiology regarding...
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X-linked Severe Combined Immunodeficiency Syndrome: The First Korean Case with gamma c Chain Gene Mutation and Subsequent Genetic Counseling

Jo EK, Kumaki S, Wei D, Tsuchiya S, Kanegane H, Song CH, Noh HY, Kim YO, Kim SY, Chung HY, Kim YH, Kook H

X-linked severe combined immunodeficiency (X-SCID) is a rare, life-threatening immune disorder, caused by mutations in the gamma c chain gene, which encodes an essential component of the cytokine receptors for...
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