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Beckwith-Wiedemann Syndrome and Jacobsen Syndrome Caused by 11pter Duplication and 11qter Deletion Inherited from Paternal Pericentric Inversion

Choi WK, Lim SE, Kim GH, Lee BH, Seol CA, Seo EJ

We report a case of Beckwith-Wiedemann syndrome (BWS) and Jacobsen syndrome (JBS) due to 11pter trisomy and 11qter monosomy caused by paternal inv(11)(p15.1q24.2). The patient was born premature and had...
The Positive Aspects of Attention-Deficit/Hyperactivity Disorder among Famous People

Lee JW, Seo K, Bahn GH

The Positive Aspects of Attention-Deficit/Hyperactivity Disorder among Famous People

Lee JW, Seo K, Bahn GH

Objective The shortage of clinical data regarding adult patients with often results in adults with ADHD being stigmatized and being inadequately treated. In this paper, famous people who potentially have...
Standardized Pathology Report for Colorectal Cancer, 2nd Edition

Kim Bh, Kim JM, Kang GH, Chang HJ, Kang DW, Kim JH, Bae JM, Seo AN, Park HS, Kang YK, Lee KH, Cho MY, Do IG, Lee HS, Chang HK, Park DY, Kang HJ, Sohn JH, Chang MS, Jung ES, Jin SY, Yu E, Han HS, Kim YW, The Gastrointestinal Pathology Study Group of the Korean Society of Pathologists

The first edition of the ‘Standardized Pathology Report for Colorectal Cancer,’ which was developed by the Gastrointestinal Pathology Study Group (GIP) of the Korean Society of Pathologists, was published 13...
Assessment of the Purity of Emodin by Quantitative Nuclear Magnetic Resonance Spectroscopy and Mass Balance

Park S, Choi YJ, Do GH, Seo EK, Hyun S, Lee D

Quantitative nuclear magnetic resonance (qNMR) is a well-established method adopted by international pharmacopoeia for quantitative and purity analyses. Emodin is a type of anthraquinone, well known as the main active...
Ehlers-Danlos syndrome VIII with novel C1R variant accompanying white matter changes

Seo GH, Kim YM, Ghang B, Kim GH, Lee BH

Ehlers-Danlos syndrome (EDS) VIII is an autosomal dominant inherited connective tissue disorder characterized by intractable periodontal inflammation, absence of gingiva, pretibial plaques, skin hyperextensibility, joint hypermobility, and tissue fragility with...
An ANKRD11 exonic deletion accompanied by a congenital megacolon in an infant with KBG syndrome

Seo GH, Oh A, Kang M, Kim EN, Jang JH, Kim DY, Kim KM, Yoo HW, Lee BH

KBG syndrome is an autosomal dominant syndrome presenting with macrodontia, distinctive facial features, skeletal anomalies, and neurological problems caused by mutations in the ankyrin repeat domain 11 (ANKRD11) gene. The...
Gait Ignition Failure in JNPL3 Human Tau-mutant Mice

Jang H, Ryu JH, Shin KM, Seo NY, Kim GH, Huh YH, Pae AN, Lee KJ

Cognitive impairments and motor dysfunction are commonly observed behavioral phenotypes in genetic animal models of neurodegenerative diseases. JNPL3 transgenic mice expressing human P301L-mutant tau display motor disturbances with age- and...
Effect of PTEN Polymorphism on the Development of Hepatitis B Virus-associated Hepatocellular Carcinoma

Kim SS, Eun JW, Cho HJ, Lee HY, Seo CW, Lee GH, Yoon SY, Noh CK, Cho SW, Cheong JY

BACKGROUND/AIMS: Phosphatase and tensin homolog (PTEN) is a known tumor suppressor gene that is downregulated in hepatocellular carcinoma (HCC). Here, we investigated the association between single nucleotide polymorphisms (SNPs) of...
Prediction of Location of the Parotid Tumors that Cross Over Anatomical Criteria for Facial Nerve on Computed Tomography

Jang GH, Kim DS, Jung YD, Seo YT, Kim BM, Kil BK, Lee DW, Kim HK, Kim JK

BACKGROUND AND OBJECTIVES: To find more accurate way to determine the location of parotid tumors that cross anatomical criteria for the facial nerve (FN). SUBJECTS AND METHOD: Two hundred patients were...
Physical and Functional Interaction between 5-HT₆ Receptor and Nova-1

Kim SH, Seo M, Hwang H, Moon DM, Son GH, Kim K, Rhim H

5-HT₆ receptor (5-HT₆R) is implicated in cognitive dysfunction, mood disorder, psychosis, and eating disorders. However, despite its significant role in regulating the brain functions, regulation of 5-HT₆R at the molecular...
Identification of Potocki–Lupski syndrome in patients with developmental delay and growth failure

Jun S, Lee Y, Oh A, Kim GH, Seo E, Lee BH, Choi JH, Yoo HW

PURPOSE: Potocki–Lupski syndrome (PTLS), is a recently identified, rare genomic disorder. The patients are affected by infantile hypotonia, poor growth and developmental delay. Facial dysmorphism may not be obvious in...
2019 Consensus Korean Diagnostic Guidelines to Define Severity Classification and Treatment Refractoriness for Atopic Dermatitis: Objective and Subjective Assessment of Severity

Kim JE, Shin MK, Park GH, Lee UH, Lee JH, Han TY, Koh HC, Jang YH, Kim HO, Na CH, Lew BL, Ahn JY, Park CO, Seo YJ, Lee YW, Sohn SW, Park YL

BACKGROUND: Systemic immunomodulatory treatment is actively recommended in the treatment for moderate to severe atopic dermatitis (AD) patients. However, consensus criteria for the classification of AD severity or treatment refractoriness...
Chronic Medical Diseases and Depressive Symptoms in a Rural Group at High Risk for Depression: A 1-Year Follow-Up Study

Chung BS, Lee D, Choi JW, Oh HO, Kang GH, Lee SS, Kim BJ, Lee CS, Lee SJ, Seo JY, Lee YJ, Cha B, Park CS

OBJECTIVES: This study investigated the effects of chronic medical diseases on depressive symptoms in individuals at high risk for depression living in rural areas, over a 1-year period. METHODS: A community-based...
Anaphylactic shock after sugammadex administration, induced by formation of a sugammadex-rocuronium complex: a case report

Kim GH, Choi WS, Kim JE, Yun MJ, Koo MS, Kwon M, Seo H

BACKGROUND: Sugammadex is a reversal agent for non-depolarizing neuromuscular blockers and widely used worldwide on account of its rapid and effective reversal from neuromuscular blockade, despite its advantages, multiple cases...
Continuous Infusion versus Intermittent Dosing with Pantoprazole for Gastric Endoscopic Submucosal Dissection

Lee BE, Kim GH, Song GA, Seo JH, Jeon HK, Baek DH, Kim DU

BACKGROUND/AIMS: Proton pump inhibitors are widely used to prevent gastric endoscopic submucosal dissection (ESD)-related bleeding, but no standard administration regimens have been established. We aimed to prospectively compare the effects...
Clinical Outcomes of Minimally Invasive Surfactant Therapy via Tracheal Catheterization in Neonates with a Gestational Age of 30 Weeks or More Diagnosed with Respiratory Distress Syndrome

Seo MY, Shim GH, Chey MJ

PURPOSE: Minimally invasive surfactant therapy (MIST) is currently used as a method of surfactant replacement therapy (SRT) for the treatment of respiratory distress syndrome (RDS) in preterm infants with a...
Incidence of gallstones after gastric resection for gastric cancer: a nationwide claims-based study

Seo GH, Lim CS, Chai YJ

PURPOSE: Gallstone formation is one of the most common problems after gastrectomy. This retrospective cohort study used the South Korean nationwide claims database to evaluate the incidence and risk factors...
Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome with deletion of chromosome 11p14.3p12

Seo GH, Kim YM, Kim GH, Seo EJ, Choi JH, Lee BH, Yoo HW

WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) syndrome is a rare contiguous gene deletion syndrome caused by deleting genes including WT1 and PAX6 genes in 11p13 region, which...
A novel mutation in XLRS1 gene in X-linked juvenile retinoschisis

Kim DH, Heo SH, Seo GH, Oh A, Kim T, Kim GH, Yoon YH, Yoo HW, Lee BH

X-linked juvenile retinoschisis (XLRS) is characterized by the progressive loss of visual acuity and vitreous hemorrhage. XLRS is caused by a mutation of retinoschisin 1 (RS1) gene at Xp22.13. In...

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