- Challenge of Personalized Medicine in the Genomic Era
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Kim HJ
- KMID: 2184451
- J Genet Med.
- 2008 Dec;5(2):89-93.
"Personalized medicine," the goal of which is to provide better clinical care by applying patient's own genomic information to their health care is a global challenge for the 21st century... -
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- Clinical Approaches to Patients with Congenital Malformations
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Lee JS
- KMID: 2184452
- J Genet Med.
- 2008 Dec;5(2):94-99.
Congenital malformation is observed in about 2-5% of newborns and is a leading cause of infant mortality. The prognosis of malformation is dictated mainly by proper treatment followed by correct... -
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- Retraction
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Jeong SY, Jang SH, Kim HJ
- KMID: 2184462
- J Genet Med.
- 2008 Dec;5(2):150-150.
No abstract available. -
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- DNA Methylation in Development
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Choe J
- KMID: 2184453
- J Genet Med.
- 2008 Dec;5(2):100-104.
DNA methylation is one of many epigenetic mechanisms that regulate gene expression in the human body. From the view of epigenetics, there are two phases of development, one for germ... -
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- Midtrimester Amniocentesis for Prenatal Diagnosis
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Kim SR, Choi EJ, Kim TY, Kwon KH, Song NH, Oh SK, Chi HJ
- KMID: 2184457
- J Genet Med.
- 2008 Dec;5(2):125-130.
PROPOSE: To analyze the indications and cytogenetic results of midtrimester amniocentesis. MATERIAL AND METHODS: This study reviewed 2,523 cases of midtrimester prenatal genetic amniocentesis performed at MizMedi Hospital between January 2000... -
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- Townes-Brocks Syndrome Associated with Hypothyroidism in a Korean Newborn: A Case Report
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Park SY, Lee WR
- KMID: 2184459
- J Genet Med.
- 2008 Dec;5(2):136-138.
Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations which include dysplastic ears, hearing loss, preaxial polydactyly and/or triphalangeal thumbs, imperforate anus, renal anomalies, congenital heart defects, and... -
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- Intercellular Adhesion Molecule-1 Gene Polymorphism (K469E) in Korean Preeclamptic Women
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Lim JH, Park SY, Kim SY, Lee MH, Yang JH, Kim MY, Park HY, Lee KS, Kim YJ, Ryu HM
- KMID: 2184454
- J Genet Med.
- 2008 Dec;5(2):105-110.
PURPOSE: Preecalmpsia is a pregnancy-specific disorder that reflects widespread endothelial dysfunction resulting from increases of adhesion molecule expression. Intercellular adhesion molecule-1 (ICAM-1) is involved in the pathogenetic mechanisms responsible for... -
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- A Cost-Benefit Analysis of Neonatal Screening Tests for Maple Syrup Urine Disease, Homocystinuria, Galactosemia, and Congenital Adrenal Hyperplasia
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Park SY, Kim DI, Lee DH
- KMID: 2184455
- J Genet Med.
- 2008 Dec;5(2):111-118.
PURPOSE: Neonatal screening tests are increasingly being used forearly diagnosis of inborn errors of metabolism (IEM) in the hope of avoiding the severe developmental delay, acute illness, and death that... -
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- A Case of Classical Galactosemia caused by Compound Heterozygous Mutations of the GALT Gene
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Cheon CK, Cho MS, Ko JM, Kim GH, Yoo HW
- KMID: 2184458
- J Genet Med.
- 2008 Dec;5(2):131-135.
Classical galactosemia is an autosomal recessive disorder of galactose metabolism, caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT). Buildup of galactose-1-phosphate is toxic at high levels and can... -
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- A Case of a 46,XX Male with SRY Gene
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Min J, Lee DS, Cho SK, Park S, Lee S, Baek M, Kim K, Hwang D
- KMID: 2184461
- J Genet Med.
- 2008 Dec;5(2):145-149.
46,XX male is a rare sex constitution characterized by the development of bilateral testis in persons who lack a Y chromosome. Manifestations of 46,XX males are usually hypogonadism, gynecomastia, azoospermia,... -
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- Pericentric Inversion of the X Chromosome in a Male with Azoospermia and in the Family of a Pregnant Female Carrier
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Lee BY, Ryu HM, Lee MH, Park JY, Kim JW, Lee JS, Kim HO, Kim MH, Park SY
- KMID: 2184460
- J Genet Med.
- 2008 Dec;5(2):139-144.
We report on two cases of pericentric inversion of X chromosome. The cases were found in a 40-year- old man with azoospermia and in a family of a 38-year-old pregnant... -
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- Polymorphisms of 5, 10-Methylentetrahydrofolate Reductase (MTHFR C677T) and Methionine Synthase Reductase (MTRR A66G) as Maternal Risk Factors for Fetal Aneuploidy
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Kim DJ, Kim SY, Park SY, Kim JW, Kim MY, Han JY, Yang JH, Ahn HK, Choi JS, Chung JH, Ryu HM
- KMID: 2184456
- J Genet Med.
- 2008 Dec;5(2):119-124.
PURPOSE: Aneuploidy is the cause of diseases such as Down syndrome or Edward syndrome and, more generally, is a major cause of mental retardation and fetal loss. The purpose of... -
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