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2019 Novel Coronavirus Disease Outbreak and Molecular Genetic Characteristics of Severe Acute Respiratory Syndrome-Coronavirus-2

Jeong YS

The 2019 novel coronavirus disease (COVID-19) outbreaks that emerged in Wuhan city, Hubei province, have led to a formidable number of confirmed cases that resulted in >5,700 deaths globally, including...
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Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses

Kim HJ, Kim SK, Yoo KY, Lee KO, Yun JW, Kim SH, Kim HJ, Park SK

BACKGROUND: von Willebrand disease (VWD), characterized by quantitative or qualitative defects of von Willebrand factor (VWF), is the most common inheritable bleeding disorder. Data regarding the genetic background of VWD...
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Molecular Genetic and Serologic Analysis of the O allele in the Korean Population

Lee JY, Song SA, Oh SH

BACKGROUND: The recent expansion of knowledge about various ABO alleles has led to the need for a comprehensive measure to cover the numerous polymorphisms dispersed in the ABO gene. A...
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Molecular Genetic Findings of Spirometra decipiens and S. ranarum in Korea

Jeon HK, Huh S, Sohn WM, Chai JY, Eom KS

The taxonomy of Spirometra species has been controversial despite the medical and veterinary importance. Currently, only a few Spirometra species are considered valid species in the genus Spirometra. In the...
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Single Molecule Method for Molecular Biology

Kim JH, Jeong C

In order to understand biological phenomena accurately, single molecule techniques using a physical research approach to molecular interactions have been developed, and are now widely being used to study complex...
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Diffuse Intrinsic Pontine Glioma : Clinical Features, Molecular Genetics, and Novel Targeted Therapeutics

Mathew RK, Rutka JT

Diffuse intrinsic pontine glioma (DIPG) is a deadly paediatric brain cancer. Transient response to radiation, ineffective chemotherapeutic agents and aggressive biology result in rapid progression of symptoms and a dismal...
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A Korean Patient with Early Juvenile Form of Metachromatic Leukodystrophy: Biochemical and Molecular Genetic Investigation

Kim YB, Park HD, Choi R, Lee SY, Ki CS, Song J, Kim JW, Lee J

Metachromatic leukodystrophy is an inherited lysosomal storage disorder caused by the deficiency of arylsulfatase A activity. The patient in this study, a 5-yr-old girl, presented with progressive psychomotor regression. An...
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Annual Report on the External Quality Assessment Scheme for Biochemical Genetics in Korea (2015)

Lee SY, Ji OJ, Kwon GC, Kim JW, Park HD, Song J, Lee SG, Lee YW, Lee EH, Chun S, Choi TY, Biochemical Genetics Subcommittee, Korean Association of External Quality Assessment Service

Two external quality assessment (EQA) trials of conventional newborn screening tests for phenylketonuria, galactosemia, congenital adrenal hyperplasia, maple syrup urine disease, homocystinuria, and congenital hypothyroidism, as well as newborn screening...
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Presentation of Progressive Familial Intrahepatic Cholestasis Type 3 Mimicking Wilson Disease: Molecular Genetic Diagnosis and Response to Treatment

Boga S, Jain D, Schilsky M

Progressive familial intrahepatic cholestasis type 3 (PFIC3) is an autosomal recessive disorder of cholestasis of hepatocellular origin, typically seen in infancy or childhood caused by a defect in the ABCB4...
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Annual Report on the External Quality Assessment Scheme for Biochemical Genetics in Korea (2014)

Lee SY, Ji OJ, Kwon GC, Kim JW, Park HD, Song J, Lee SG, Lee YW, Lee EH, Chun S, Choi TY, Biochemical Genetics Subcommittee, The Korean Association of External Quality Assessment Service

Two trials of external quality assessment (EQA) of conventional newborn screening tests for phenylketonuria, galactosaemia, congenital adrenal hyperplasia, maple syrup urine disease, homocystinuria, and congenital hypothyroidism, as well as newborn...
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Molecular genetic decoding of malformations of cortical development

Lim JS, Lee JH

Malformations of cortical development (MCD) cover a broad spectrum of developmental disorders which cause the various clinical manifestations including epilepsy, developmental delay, and intellectual disability. MCD have been clinically classified...
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Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing

Park HJ, Choi YC, Kim SM, Kim SH, Hong YB, Yoon BR, Chung KW, Choi BO

BACKGROUND: We describe herein the application of whole exome sequencing (WES) for the molecular genetic diagnosis of a large Korean family with dominantly inherited myopathy. CASE REPORT: The affected individuals presented...
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Annual Report on External Quality Assessment of Biochemical Genetics in Korea (2013)

Lee SY, Biochemical Genetics Subcommittee, The Korean Association of Quality Assurance for Clinical Laboratory

  • KMID: 2200442
  • J Lab Med Qual Assur.
  • 2014 Jun;36(2):64-70.
Two trials of external quality assessment (EQA) of conventional newborn screening tests for phenylketonuria, galactosaemia, congenital adrenal hyperplasia, maple syrup urine disease, homocystinuria, and congenital hypothyroidism, as well as of...
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Molecular genetics of congenital central hypoventilation syndrome and Haddad syndrome

Lee JH, Kim DK

Congenital central hypoventilation syndrome (CCHS) is a disorder of the autonomic nervous system characterized by a decreased response to hypercarbia. CCHS is frequently associated with congenital megacolon; the combination is...
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Molecular Biology of Non-small-cell Lung Cancer

Choi JH

In the past decades, substantial developments in the understanding of molecular biology in non-small-cell lung cancer (NSCLC) have improved diagnosis and treatment of NSCLC based on the genotype of each...
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Molecular Genetic Mechanisms of Chronic Urticaria

Losol P, Yoo HS, Park HS

Chronic urticaria (CU) is a common allergic skin disease that requires long-term pharmacological treatment. Some patients with severe CU suffer a poor quality of life. Although the pathogenic mechanisms of...
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Molecular Genetic Diagnosis of Deafness: Current and Future

Oh SH, Choi BY

Advances in molecular biology and molecular genetic technologies have revealed extreme etiologic heterogeneity of genetic hearing loss. Genes known to contribute to deafness have been reported to be involved with...
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Clinical characteristics of congenital myotonic dystrophy diagnosed by molecular genetic method

Nam SH, Son YB, Lee BL, Lee J, Ki CS, Lee M

PURPOSE: We performed this study to investigate the perinatal and developmental features of the patients with congenital myotonic dystrophy (CDM) confirmed by the molecular genetic method and the clinical characteristics...
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Latest Updates on Molecular Genetics and Pharmacogenomic Study in Child and Adolescent Psychiatric Field

Cheon KA

  • KMID: 2198126
  • J Korean Neuropsychiatr Assoc.
  • 2007 Jul;46(4):295-307.
The objective of this article is to review the literature over the past decade on the molecular genetic studies and pharmacogenomic studies in child and adolescent psychiatric disorders. A computerized...
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Molecular Genetic Analysis and Endocriological Evaluation of Isolated Hypogonadotropic Hypogonadism Presented with Delayed Puberty

Ko JM, Kim GH, Yoo HW

  • KMID: 2193432
  • J Korean Soc Pediatr Endocrinol.
  • 2007 Jun;12(1):41-48.
PURPOSE: Isolated hypogonadotropic hypogonadism (HH) is a disorder of the hypothalamic-pituitary axis causing gonadotrophin releasing hormone or gonadotrophin deficiency. Kallman syndrome has a constellation of features, characterized by HH, hyposomia,...
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