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Genetic Counseling Status and Perspectives Based on a 2018 Professional Survey in Korea

Kim J, Kong SY, Han SH, Kim JW, Jeon CH, Yoo J

BACKGROUND: Genetic counseling (GC) provides many benefits, including the identification of patients appropriate for testing, patient education, and medical management. We evaluated the current status of and challenges faced by...
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Extracting Structured Genotype Information from Free-Text HLA Reports Using a Rule-Based Approach

Lee KH, Kim HJ, Kim YJ, Kim JH, Song EY

BACKGROUND: Human leukocyte antigen (HLA) typing is important for transplant patients to prevent a severe mismatch reaction, and the result can also support the diagnosis of various disease or prediction...
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Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases: A Single Center Experience

Kwon WK, Choi S, Kim HJ, Huh HJ, Kang JM, Kim YJ, Yoo KH, Ahn K, Cho HK, Peck KR, Jang JH, Ki CS, Kang ES

PURPOSE: While there is an urgent need for diagnosis and therapeutic intervention in patients with primary immunodeficiency diseases (PIDs), current genetic tests have drawbacks. We retrospectively reviewed the usefulness of...
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From Genetic Testing to Treatment and Prevention of BRCA-Related Breast Cancer

Ki CS

No abstract available.
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Direct-to-consumer genetic testing

Kim JW

Direct-to-consumer (DTC) genetic testing is a controversial issue although Korean Government is considering to expand DTC genetic testing. Preventing the exaggeration and abusing of DTC genetic testing is an important...
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Direct-to-consumer genetic testing: advantages and pitfalls

Oh B

No abstract available.
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Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG gene

Heo S, Jang JH, Yu J

Congenital hypothyroidism (CH) is the most common endocrine disorder in neonates and infants with an incidence of one in 2,000 to one in 4,000 newborns. Primary CH can be caused...
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Clinical Study of 31 Polydactyly Cases Admitted to Neonatal Intensive Care Unit

Lee Y, Gang M, Chang M, Song W, Kim S

OBJECTIVE: To investigate polydactyly in neonates who were admitted to neonatal intensive care unit (NICU) due to urgent medical needs. METHODS: Retrospective chart review of polydactyly neonates admitted to NICU of...
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Current Status of Clinical Diagnosis and Genetic Analysis of Hereditary Hemorrhagic Telangiectasia in South Korea: Multicenter Case Series and a Systematic Review

Kim D, Seo EJ, Song YS, Suh CH, Kim JW, Kim DJ, Suh DC

PURPOSE: Hereditary hemorrhagic telangiectasia (HHT), a rare genetic vascular disorder, has been rarely reported in South Korea. We investigated the current prevalence and presenting patterns of genetically confirmed HHT in...
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Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1

Rhee ES, Kim YB, Lee S, Oh SH, Lee BH, Kim KM, Yoo HW

Progressive familial intrahepatic cholestasis (PFIC) is a group of severe genetic disorders, inherited in an autosomal recessive manner, causing cholestasis of hepatocellular origin, later progressing to biliary cirrhosis and liver...
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Progressive Familial Intrahepatic Cholestasis in Korea: A Clinicopathological Study of Five Patients

Kang HJ, Hong SA, Oh SH, Kim KM, Yoo HW, Kim GH, Yu E

BACKGROUND: Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of autosomal recessive liver diseases that present as neonatal cholestasis. Little is known of this disease in Korea. METHODS: The records...
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The influence of BRCA variants of unknown significance on cancer risk management decision-making

Chern JY, Lee SS, Frey MK, Lee J, Blank SV

OBJECTIVE: To compare gynecological cancer risk management between women with BRCA variants of unknown significance (VUS) to women with negative genetic testing METHODS: Ninety-nine patients whose BRCA genetic testing yielded VUS...
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Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases

Kim MS, Joo K, Seong MW, Kim MJ, Park KH, Park SS, Woo SJ

BACKGROUND: Because of genetically and phenotypically heterogenous features, identification of causative genes for inherited retinal diseases (IRD) is essential for diagnosis and treatment in coming gene therapy era. To date,...
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Antifungal Mechanism of Action of Lauryl Betaine Against Skin-Associated Fungus Malassezia restricta

Do E, Lee HG, Park M, Cho YJ, Kim DH, Park SH, Eun D, Park T, An S, Jung WH

Betaine derivatives are considered major ingredients of shampoos and are commonly used as antistatic and viscosity-increasing agents. Several studies have also suggested that betaine derivatives can be used as antimicrobial...
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Ventricular Septal Defect Closure in a Neonate with Osteogenesis Imperfecta

Jang WS, Choi HJ, Kim JB, Kim JH

A male patient weighing 2.5 kg was admitted for respiratory difficulty, and a large ventricular septal defect (VSD) was diagnosed. During care, sudden right leg swelling with a femur shaft...
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Regulated sandbox and disease-related genetic tests as a direct-to-consumer test

Kim JW

Recently, the Korean government introduced a regulatory sandbox that includes direct-to-consumer (DTC) genetic tests. Several genetic testing companies received approval for predictive DTC genetic tests for conditions ranging from cancer...
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Effects of paternal age on human embryo development in in vitro fertilization with preimplantation genetic screening

Kim MK, Park JK, Jeon Y, Seok SH, Chang EM, Lee WS

OBJECTIVE: As paternal age increases, the quality of sperm decreases due to increased DNA fragmentation and aneuploidy. Higher levels of structural chromosomal aberrations in the gametes ultimately decrease both the...
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Major clinical research advances in gynecologic cancer in 2018

Kim M, Suh DH, Lee KH, Eom KY, Toftdahl N, Mirza MR, Kim JW

Nineteen topics were selected as major clinical research advances in gynecologic oncology in 2018. For cervical cancer, the importance of human papillomavirus (HPV) testing alone as primary cervical cancer screening...
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Recent progress in laboratory diagnosis of thalassemia and hemoglobinopathy: a study by the Korean Red Blood Cell Disorder Working Party of the Korean Society of Hematology

Lee YK, Kim HJ, Lee K, Park SH, Song SH, Seong MW, Kim M, Han JY

Genetic hemoglobin disorders are caused by mutations and/or deletions in the α-globin or β-globin genes. Thalassemia is caused by quantitative defects and hemoglobinopathies by structural defect of hemoglobin. The incidence...
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A novel CHD7 mutation in an adolescent presenting with growth and pubertal delay

Antoniou M, Bouthors T, Xu C, Phan-Hug F, Elowe-Gruau E, Stoppa-Vaucher S, van der Sloot A, Acierno J, Cassatella D, Richard C, Dwyer A, Pitteloud , Hauschild

Mutations in the CHD7 gene, encoding for the chromodomain helicase DNA-binding protein 7, are found in approximately 60% of individuals with CHARGE syndrome (coloboma, heart defects, choanal atresia, retarded growth...
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