Skip Navigation
Skip to contents
Results by Year

View Wide

Filter

ARTICLE TYPE

more+
SELECT FILTER
 
Close

PUBLICATION DATE

90 results
Display

The first Korean case of 2p15p16.1 microdeletion syndrome, characterized by facial dysmorphism, developmental delay, and congenital hypothyroidism

Cho JY, Lee TK, Kim YM, Lim HH

The microdeletion syndrome of chromosome 2p15p16.1 (MIM: 612513) is an extremely rare contiguous gene deletion syndrome. Microdeletions of varying sizes in the 2p15-16.1 region are associated with developmental delay, intellectual...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Efficacy of Post-Operative Medication to Prevent Recurrence of Endometrioma: Cyclic Oral Contraceptive (OC) After Gonadotropin-Releasing Hormone (GnRH) Agonist Versus Dienogest

Choi SH, Kim SE, Lim HH, Lee DY, Choi D

Background: There are several medical treatment options for endometrioma. Progestin, especially dienogest, is an effective drug for preventing recurrence of endometrioma after surgery. Additionally, oral contraceptive (OC) use after conservative...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Association of Early Pubertal Onset in Female Rats With Inhalation of Lavender Oil

Kim YM, Lim HH

Background: Central precocious puberty (CPP) is caused by early activation of the hypothalamic–pituitary–gonadal axis but its major cause remains unclear. Studies have indicated an association between chronic environmental exposure to...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
A neonate with Say–Barber–Biesecker–Young– Simpson syndrome with a novel pathogenic mutation in KAT6B gene: A case report

Shin JH, Lim HH, Gang MH, Kim SY, Yang Ss, Chang My

The Say–Barber–Biesecker–Young–Simpson variant of Ohdo syndrome (SBBYSS) (Online Mendelian Inheritance in Man #603736) is a rare autosomal dominant disorder and clinically features blepharophimosis with ptosis, a mask-like facial appearance, cryptorchidism,...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Leri-Weill dyschondrosteosis in a newborn presenting with respiratory failure due to severe micrognathia

Gang MH, Lee J, Lee YW, Shin JH, Lim HH, Kim YM, Chang My

Short stature homeobox-containing gene (SHOX) is a well-known causative gene for the short stature in Turner syndrome. The clinical manifestation of SHOX gene related disorders varies from SHOX haploinsufficiency, presenting...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
The Effect of Combined Growth Hormone and a Gonadotropin-Releasing Hormone Agonist Therapy on Height in Korean 3-M Syndrome Siblings

Lee IK, Lim HH, Kim YM

3-M syndrome is a rare autosomal recessive growth disorder characterized by severe growth retardation, low birth weight, characteristic facial features, and skeletal anomalies, for which three causative genes (CUL7, OBSL1,...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
First Case of Peroxisomal D-bifunctional Protein Deficiency with Novel HSD17B4 Mutations and Progressive Neuropathy in Korea

Bae EY, Yi Y, Lim HH, Lee JM, Lee B, Kim SY, Kim YM

Peroxisomal D-bifunctional protein (DBP), encoded by the HSD17B4 gene, catalyzes β-oxidation of very long chain fatty acids (VLCFAs). The deficiency of this peroxisomal enzyme leads to the accumulation of VLCFAs,...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Evaluation of Automated Platelet Aggregation Test Using a Sysmex CS-5100 Analyzer

An GD, Jeong IH, Lim HH, Woo KS, Kim KH, Kim JM, Han JY

Background The platelet aggregation test is widely used to measure antiplatelet therapy response and to detect platelet function disorders. CS-5100 (Sysmex Co., Japan) is a recently introduced coagulation analyzer that can...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Successful rapid weight reduction and the use of liraglutide for morbid obesity in adolescent Prader-Willi syndrome

Kim YM, Lee YJ, Kim SY, Cheon CK, Lim HH

Prader-Willi syndrome (PWS), an imprinting disorder, results from the loss of expression of a paternal gene on chromosome 15q11-q13. Progressive obesity and its associated complications lead to increased morbidity and...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
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...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Trisomy 12p Syndrome Secondary to a Balanced Maternal Translocation [46,XX, t(12;22)(p11.2;p13)]

Gang MH, Lee YW, Lim HH, Chang MY

Trisomy 12p is a rare chromosomal anomaly. It causes dysmorphic features, multiple congenital anomalies, neonatal complications, and mental retardation. We present a case of complete and pure trisomy 12p syndrome...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
A Rare Case of Acute Myeloid Leukemia With SET-NUP214 Fusion and Massive Hyperdiploidy

Jeong IH, An GD, Lim HH, Woo KS, Kim KH, Kim JM, Lee JH, Han JY

No abstract available.
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Thyroid Hormone Resistance in a Preterm Infant with a Novel THRB Mutation

Bae JY, Kim DY, Kwon YD, Song YH, Lim HH, Park HD, Lim JW

Resistance to thyroid hormone (RTH) is a condition caused by a mutation in the thyroid hormone receptor gene. It is rarely reported in individuals with no family history of RTH...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Gender affirmative care of transgender people: a single center's experience in Korea

Lim HH, Jang YH, Choi GY, Lee JJ, Lee ES

OBJECTIVE: To investigate the clinical characteristics and medical management of transgender people in South Korea. METHODS: The electronic medical records of 54 transgender persons who had visited Soonchunhyang University Hospital from...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Identification of a novel heterozygous mutation of ACAN in a Korean family with proportionate short stature

Kim YM, Cheon CK, Lim HH, Yoo HW

Aggrecan is a proteoglycan in the extracellular matrix of growth plate and cartilaginous tissues. Aggrecanopathy has been reported as a genetic cause not only for severe skeletal dysplasia but also...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Difference in Characteristics in the Formation of Anti-E and Anti-E/-c in Patients with the CDe Phenotype

An GD, Kim KH, Lim HH, Jeong IH

BACKGROUND: Anti-E or paired anti-E/-c antibodies can develop in patients with the Rh CDe phenotype. This study examined the differences in transfusion in patients with the CDe phenotype according to...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
A Case of Bone Marrow Necrosis in B-Acute Lymphoblastic Leukemia with Philadelphia Chromosome at Presentation

Jeong IH, An GD, Lim HH, Woo KS, Kim KH, Kim JM, Lee JH, Han JY

Bone marrow necrosis (BMN) is a pathologic state which is derived from various disease entities. Most commonly, it is accompanied by hematologic malignancies such as acute leukemia. The patients with...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Platelet Function Analyzer-200 P2Y Results Are Predictive of the Risk of Major Adverse Cardiac Events in Korean Patients Receiving Clopidogrel Therapy Following Acute Coronary Syndrome

Lim HH, Li S, An GD, Woo KS, Kim KH, Kim JM, Kim MH, Han JY

BACKGROUND: Clopidogrel is one of the most commonly used anti-platelet agents in cardiovascular diseases. We analyzed the relationship between the platelet function analyzer (PFA)-200 P2Y (INNOVANCE PFA-200 System, Siemens Healthcare,...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Analysis for the Cause of Inadequate Specimens in Blood Bank: A Single Center Study

Lim HH, Jeong GC, Kim KH

No abstract available.
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Acute Hemolytic Transfusion Reaction due to ABO-Incompatible Blood Transfusion: A Fatal Case Report and Review of the Literature

Lim HH, Kim KH, An GD, Jeong IH, Son YK

A 77-year-old female patient who was suspected to have had an acute hemolytic transfusion reaction was admitted to the emergency room. She received one unit of type A red blood...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close

Go to Top

Copyright © 2023 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr