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Prenatal diagnosis of the isodicentric chromosome 22 associated with cat eye syndrome by multiplex ligation-dependent probe amplification

Park SH, Shim SH, Jung YW, Shim SH, Chin MU, Park JE, Bae SM, Lyu SW, Cha DH

Cat eye syndrome (CES) is a very rare chromosomal syndrome characterized by various malformations such as anal atresia, preauricular malformation, coloboma of the iris, and congenial heart and renal defects....
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Prenatal diagnosis of 4p deletion syndrome: A case series report

Kwak DW, Ahn HK

The 4p deletion syndrome, also known as Wolf-Hirschhorn syndrome, is a well-known genetic disorder caused by a partial deletion of the short arm of chromosome 4. The great variability in...
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Prenatal diagnosis of 5p deletion syndrome: A case series report

Han YJ, Kwak DW

5p deletion syndrome, also known as Cri-du-Chat syndrome, is a chromosomal abnormality caused by a deletion in the short arm of chromosome 5. Clinical features of 5p deletion syndrome are...
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A case of maternal uniparental disomy of chromosome 20 detected by noninvasive prenatal test of 1,000 high-risk pregnancies

Cha DH, Lee J, Jeon YJ, Jung YW, Jang JH, Lee T, Cho EH

Chromosomal loss in trisomy (trisomy rescue) to generate a disomic fetus can cause confined placental mosaicism and/or feto/placental mosaicism. After trisomy rescue event, there is a risk of fetal uniparental...
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A novel mutation in the DAX1 gene in a newborn with adrenal hypoplasia congenita in Korea

Lee J, Kim WD, Kim HS, Lee EK, Park HD

Adrenal hypoplasia congenita (AHC) is a rare cause of adrenal insufficiency during neonatal period. Mutations in the gene coding for DAX1 cause X-linked adrenal hypoplasia. Most affected patients are shown...
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Novel heterozygous MCCC1 mutations identified in a patient with 3-methylcrotonyl-coenzyme A carboxylase deficiency

Kim YM, Seo GH, Kim GH, Yoo HW, Lee BH

Isolated 3-methylcrotonyl-CoA carboxylase deficiency is an autosomal recessive disorder affecting leucine metabolism; it is one of the most common inborn metabolic diseases detected in newborn screening. Mutations in the genes...
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Pseudohypoparathyroidism type 1b due to paternal uniparental disomy of chromosome 20q: A case report

Lee JH, Kim HS, Kim GH, Yoo HW

Pseudohypoparathyroidism type 1b (PHP 1b) is the result of end organ resistance to parathyroid hormone (PTH) in the absence of any features of Albright's hereditary osteodystrophy. There are two subtypes...
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A genome-wide association study of the association between single nucleotide polymorphisms and brachial-ankle pulse wave velocity in healthy Koreans

Xu E, Shin J, Lim JE, Kim MK, Choi BY, Shin MH, Shin DH, Lee YH, Chun BY, Hong KW, Hwang JY

PURPOSE: Pulse wave velocity (PWV) is an indicator of arterial stiffness, and is considered a marker of vascular damage. However, a genome-wide association study analyzing single nucleotide polymorphisms (SNPs) associated...
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First trimester screening for trisomy 18 by a combination of nuchal translucency thickness and epigenetic marker level

Lee DE, Kim SY, Kim HJ, Park SY, Kim MH, Han YJ, Ryu HM

PURPOSE: The aim of this study was to assess the diagnostic efficacy of noninvasive prenatal screening for trisomy 18 by assessing the levels of unmethylated-maspin (U-maspin) and fetal nuchal translucency...
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