Skip Navigation
Skip to contents
Results by Year

View Wide

Filter

ARTICLE TYPE

more+
SELECT FILTER
 
Close

PUBLICATION DATE

274 results
Display

Accuracy and Performance Evaluation of Triplet Repeat Primed PCR as an Alternative to Conventional Diagnostic Methods for Fragile X Syndrome

Gu H, Kim MJ, Yang D, Song JY, Cho SI, Park SS, Seong MW

Background: Conventional diagnosis of fragile X syndrome (FXS) is based on a combination of fragment analysis (FA) and Southern blotting (SB); however, this diagnostic approach is time- and labor-intensive and...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Association between body temperature measured at the emergency department with prognosis in septic shock patients

Choi JH, Park YS, Chung SP, Shin TG, Kim WY, Choi SH, Jo YH, Kang GH, Shin J, Lim TH, Han KS, Suh GJ, Korean Shock Society (KoSS) Investigators

  • KMID: 2506061
  • J Korean Soc Emerg Med.
  • 2020 Aug;31(4):346-354.
Objective: Prior studies have explored the relationship between initial body temperature (BT) and mortality in patients with sepsis in the emergency department (ED). However, there has been no study on...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
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...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency

Lee Y, Choi JH, Oh A, Kim GH, Park SH, Moon JE, Ko CW, Cheon CK, Yoo HW

Purpose: Cytochrome P450 oxidoreductase (POR) deficiency is a rare autosomal recessive disorder caused by mutations in the POR gene encoding an electron donor for all microsomal P450 enzymes. It is...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Three-Dimensional Analysis of the Morphological Features in the Femur of Atypical Fracture and Practical Implications of Intramedullary Nailing

Kwon YU, Lee KJ, Choi JY, Jung GH

Purpose: This study analyzed the morphological features of the contralateral femur without an atypical fracture by constructing a three-dimensional model with an actual size medullary canal. Materials and Methods: Lateral and...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Prognostic factors related with outcomes in traumatic out-of-hospital cardiac arrest patients without prehospital return of spontaneous circulation:a nationwide observational study

Jun GS, Kim JG, Choi HY, Kang GH, Kim W, Jang YS, Kim HT

Objective To evaluate the prognostic factors associated with the sustained return of spontaneous circulation (ROSC) and survival to hospital discharge in traumatic out-of-hospital cardiac arrest (TOHCA) patients without prehospital ROSC. Methods...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Response to comment on “Birt-Hogg-Dubé syndrome in Korean: clinicoradiologic features and long term follow-up”

Lee JH, Jeon MJ, Song JS, Chae EJ, Choi JH, Kim GH, Song JW

CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Evaluation of hematologic profile may be needed for patients treated with oxcarbazepine

Jung GH, You SJ

PURPOSE: The major side effects of treatment with oxcarbazepine (OXC) are skin rash and hyponatremia. Hematologic side effects are reported rarely. The aim of this study was to investigate the...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Birt-Hogg-Dubé syndrome in Korean: clinicoradiologic features and long term follow-up

Lee JH, Jeon MJ, Song JS, Chae EJ, Choi JH, Kim GH, Song JW

BACKGROUND/AIMS: Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant disorder that is characterized by skin fibrofolliculomas, pulmonary cysts, and renal tumors. The objective of this study was to describe the...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
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...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
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...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Polymorphisms of Ionotropic Glutamate Receptor-Related Genes and the Risk of Autism Spectrum Disorder in a Chinese Population

Xie X, Hou F, Li L, Chen Y, Liu L, Luo X, Gu H, Li X, Zhang J, Gong J, Song R

OBJECTIVE: To evaluate the association of GRIK2 and NLGN1 with autism spectrum disorder in a Chinese population. METHODS: We performed spatio-temporal expression analysis of GRIK2 and NLGN1 in the developing prefrontal...
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
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...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
A Novel Effect of Lipids Extracted from Vernix Caseosa on Regulation of Filaggrin Expression in Human Epidermal Keratinocytes

Qiao W, Jia T, Gu H, Guo R, Kaku K, Wu W

BACKGROUND: Vernix caseosa (VC), which is known as a unique human substance, is a biofilm that covers the skin of most human newborns. VC has many biological functions including anti-infective,...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Fixation Options of Unstable Posterior Pelvic Ring Disruption: Ilio-Sacral Screw Fixation, S2AI Fixation, Posterior Tension Band Plate Fixation, and Spino-Pelvic Fixation

Kim DH, Jang JH, Shin M, Jung GH

The fixation methods that can be used for unstable posterior pelvic ring injuries have undergone many innovative changes due to the recent development of surgical and imaging techniques. After understanding...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Tryptophan Metabolites in Irritable Bowel Syndrome: An Overnight Time-course Study

Burr RL, Gu H, Cain K, Djukovic D, Zhang X, Han C, Callan N, Raftery D, Heitkemper M

  • KMID: 2460485
  • J Neurogastroenterol Motil.
  • 2019 Oct;25(4):551-562.
  • doi: 10.5056/jnm19042
BACKGROUND/AIMS: Patients with irritable bowel syndrome (IBS) often report poor sleep quality. Whether poor sleep is associated with tryptophan (Trp) metabolites is unknown. We compared serum Trp metabolites in women...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
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...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
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...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Health Behavior Factors Associated with Sugar-sweetened Beverage Intake among Adolescents

Gu HM, Park J, Ryu SY

OBJECTIVES: This study was conducted to measure the intake rate of SSBs (sugar sweetened beverages) and examine the relationship between health behavior factors and SSBs intake by adolescents. METHODS: This study...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close

Go to Top

Copyright © 2021 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr