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Clinical Application of Sequential Epigenetic Analysis for Diagnosis of Silver–Russell Syndrome

Kim SY, Shin CH, Lee YA, Shin CH, Yang SW, Cho TJ, Ko JM

Background: Silver-Russell syndrome (SRS) is a pre- or post-natal growth retardation disorder caused by (epi)genetic alterations. We evaluated the molecular basis and clinical value of sequential epigenetic analysis in pediatric...
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Hyperammonemic Encephalopathy Mimicking Ornithine Transcarbamylase Deficiency in Fibrolamellar Hepatocellular Carcinoma: Successful Treatment with Continuous Venovenous Hemofiltration and Ammonia Scavengers

Lee JS, Jin HY, Ko JM, Kim SH, Han N, Park BK, Park M, Park HJ, Lee JA

Fibrolamellar hepatocellular carcinoma (FLHCC) is a rare liver cancer affecting adolescents and young adults without any pre existing liver disease. Hyperammonemic encephalopathy (HAE) is a serious paraneoplastic syndrome, and several...
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Management of Osteogenesis Imperfecta: A Multidisciplinary Comprehensive Approach

Cho TJ, Ko JM, Kim H, Shin HI, Yoo WJ, Shin CH

Osteogenesis imperfecta (OI) is characterized by recurring fractures and limb and spine deformities. With the advent of medical therapeutics and the discovery of causative genes, as well as the introduction...
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Gorham-Stout Syndrome with Focal Segmental Glomerulosclerosis: A Case Report

Kim JH, Kim YS, Lim SH, Ahn YH, Ko JM, Suh DI, Lee KB, Moon KC, Ha IS, Cheong HI, Kang HG

Gorham-Stout syndrome is a rare bone disorder characterized by progressive massive osteolysis and proliferation of vascular and lymphatic vessels. A 15-year-old boy was initially diagnosed with Gorham-Stout at the age...
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Development of a Coping Scale for Infertility-Women (CSI-W)

Kim M, Ko JM

Purpose: The purpose of this study was to develop a Coping Scale for Infertility-Women (CSI-W). Methods: The initial items were based on an extensive literature review and in-depth interviews with...
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A neonate with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome from a consanguineous Pakistani family

Kim YM, Lim HH, Gang MH, Lee YW, Kim SZ, Kim GH, Yoo HW, Ko JM, Chang M

Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive urea cycle disorder. HHH is caused by a deficiency of the mitochondrial ornithine transporter protein, which is encoded by the solute carrier...
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A newborn girl with harlequin ichthyosis genetically confirmed by ABCA12 analysis

Kim J, Ko JM, Shin SH, Kim EK, Kim HS

Harlequin ichthyosis (HI, OMIM #242500) is one of the most severe skin diseases among the autosomal recessive congenital ichthyoses, with high morbidity and mortality, particularly in newborns. Clinically, it is...
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Diagnosis and Management of Hip Dislocation in Patients with Kabuki Syndrome

Lim C, Jung ST, Shin CH, Park MS, Yoo WJ, Chung CY, Choi IH, Ko JM, Cho TJ

BACKGROUND: Kabuki syndrome is a rare genetic disorder characterized by distinct dysmorphic facial features, growth deficiency, intellectual disabilities, unusual dermatoglyphic patterns, and skeletal abnormalities. The incidence of hip dislocation in...
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Bronchogenic Cyst in Posterior Mediastinum with Butterfly Vertebra: A Case Report

Kim M, Park HJ, Ko JM, Yoo J

Most mediastinal cystic masses result from abnormal development of the embryo. Common developmental cysts in the posterior mediastinum are bronchogenic, neurenteric, and esophageal duplication cysts. These cystic masses appear identical...
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A New Integrated Newborn Screening Workflow Can Provide a Shortcut to Differential Diagnosis and Confirmation of Inherited Metabolic Diseases

Ko JM, Park KS, Kang Y, Nam SH, Kim Y, Park I, Chae HW, Lee SM, Lee KA, Kim JW

PURPOSE: We developed a new workflow design which included results from both biochemical and targeted gene sequencing analysis interpreted comprehensively. We then conducted a pilot study to evaluate the benefit...
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Chromosomal Microarray: Application for Congenital Heart Diseases

Ko JM

No abstract available.
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Two Korean girls with complete androgen insensitivity syndrome diagnosed in infancy

Heo YJ, Ko JM, Lee YA, Shin CH, Yang SW, Kim MJ, Park SS

Androgen insensitivity syndrome (AIS) is a rare genetic disease caused by various abnormalities in the androgen receptor (AR). The AR is an essential steroid hormone receptor that plays a critical...
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Clinical Features of Multiple Acyl-CoA Dehydrogenase Deficiency With ETFDH Variants in the First Korean Cases

Kim YJ, Ko JM, Song J, Lee KA

No abstract available.
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Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib

Choi R, Park HD, Ko JM, Lee J, Lee DH, Hong SJ, Ki CS, Lee SY, Kim JW, Song J, Choe YH

BACKGROUND: Molecular techniques are fundamental for establishing an accurate diagnosis and therapeutic approach of glycogen storage diseases (GSDs). We aimed to evaluate SLC37A4 mutation spectrum in Korean GSD Ib patients. METHODS:...
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Kinetin Improves Barrier Function of the Skin by Modulating Keratinocyte Differentiation Markers

An S, Cha HJ, Ko JM, Han H, Kim SY, Kim KS, Lee SJ, An IS, Kim S, Youn HJ, Ahn KJ, Kim SY

BACKGROUND: Kinetin is a plant hormone that regulates growth and differentiation. Keratinocytes, the basic building blocks of the epidermis, function in maintaining the skin barrier. OBJECTIVE: We examined whether kinetin induces...
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Loss of podocalyxin causes a novel syndromic type of congenital nephrotic syndrome

Kang HG, Lee M, Lee KB, Hughes M, Kwon BS, Lee S, McNagny KM, Ahn YH, Ko JM, Ha IS, Choi M, Cheong HI

Many cellular structures directly imply specific biological functions. For example, normal slit diaphragm structures that extend from podocyte foot processes ensure the filtering function of renal glomeruli. These slits are...
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The first Korean case of Waardenburg-Shah syndrome with novel endothelin receptor type B mutations

Lee ES, Ko JM, Moon JS

Waardenburg syndrome (WS) is a rare genetic disorder, including clinical features of pigmentary abnormalities of irides, skin, hair and sensorineural hearing loss and facial dysmorphism. Among the four types, WS...
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A Novel Homozygous LIPA Mutation in a Korean Child with Lysosomal Acid Lipase Deficiency

Kim KY, Kim JW, Lee KJ, Park E, Kang GH, Choi YH, Kim WS, Ko JM, Moon JS, Ko JS

Patients with lysosomal acid lipase (LAL) deficiency and glycogen storage disease (GSD) demonstrated hepatomegaly and dyslipidemia. In our case, a 6-year-old boy presented with hepatosplenomegaly. At 3 years of age,...
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Influencing Factors on Maternal Role Adjustment among the Primipara Women in the First Year after Childbirth

Song JE, Ko JM

PURPOSE: The purpose of this study was to identify the influencing factors on maternal role adjustment among the primiparous women in the first year after childbirth. METHODS: The study subjects were...
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Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy

Kang HG, Lee HK, Ahn YH, Joung JG, Nam J, Kim NK, Ko JM, Cho MH, Shin JI, Kim J, Park HW, Park YS, Ha IS, Chung WY, Lee DY, Kim SY, Park WY, Cheong HI

Nephronophthisis-related ciliopathy (NPHP-RC) is a common genetic cause of end-stage renal failure during childhood and adolescence and exhibits an autosomal recessive pattern of inheritance. Genetic diagnosis is quite limited owing...
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