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Bisphosphonate Use Does Not Impact Survival in Patients with Pancreatic Cancer: A Propensity Score Matching Analysis

Zylberberg HM, Rustgi SD, Yang A, Aronson A, Kessel E, Amin S, Lucas AL

Background/Aims: Bisphosphonates are increasingly recognized for their anti-neoplastic properties, which are the result of their action on the mevalonate pathway. Our primary aim was to investigate the association between bisphosphonate...
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Identification of a likely pathogenic variant of YY1 in a patient with developmental delay

Bae S, Yang A, Ahn JH, Kim J, Park HK

Gabriel–de Vries syndrome, caused by the mutation of YY1, is a newly defined genetic syndrome characterized by developmental delay, facial dysmorphism, and intrauterine growth retardation. A 7-month-old girl presented developmental...
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Multisystem Inflammatory Syndrome in Children Related to COVID-19: the First Case in Korea

Kim Hn, Shim JY, Ko JH, Yang A, Shim JW, Kim DS, Jung HL, Kwak JH, Sol IS

Since mid-April 2020, cases of multisystem inflammatory syndrome in children (MIS-C) associated with coronavirus disease 2019 that mimics Kawasaki disease (KD) have been reported in Europe and North America. However,...
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A Case of Von Hippel-Lindau Disease Presented with Multiple Pancreatic Cysts and Medullary Hemangioblastoma

Kim YH, Jung HL, Yang A, Kwak JH, Kim DS, Shim JY, Shim JW

Von Hippel-Lindau (VHL) disease is a rare inherited cancer predisposition syndrome characterized by benign and malignant tumors in multiple organs, especially cerebellar hemangioblastomas, retinal angiomas, renal-cell carcinoma, and pheochromocytomas. Clinically,...
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Long-term follow-up on MURCS (Müllerian duct, renal, cervical somite dysplasia) association and a review of the literature

Kim S, Lee YS, Kim DH, Yang A, Lee T, Hwang SD, Kwon DG, Lee JE

Müllerian duct aplasia-renal aplasia-cervicothoracic somite dysplasia (MURCS) association is a unique development disorder with four common types of malformations that include uterine aplasia or hypoplasia, renal ectopy or agenesis, vertebral...
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Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center

Kim MS, Song A, Im M, Huh J, Kang IS, Song J, Yang A, Kim J, Kwon EK, Choi EJ, Han SJ, Park HD, Cho SY, Jin DK

PURPOSE: Pompe disease (PD) is an autosomal recessive disorder caused by a deficiency of acid alpha-glucosidase resulting from pathogenic GAA variants. This study describes the clinical features, genotypes, changes before...
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A case of de novo 18p deletion syndrome with panhypopituitarism

Yang A, Kim J, Cho SY, Lee JE, Kim HJ, Jin DK

Deletion on the short arm of chromosome 18 is a rare disorder characterized by intellectual disability, growth retardation, and craniofacial malformations (such as prominent ears, microcephaly, ptosis, and a round...
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Effect of Substrate Topography and Chemistry on Human Mesenchymal Stem Cell Markers: A Transcriptome Study

Zhang B, Kasoju N, Li Q, Ma J, Yang A, Cui Z, Wang H, Ye H

BACKGROUND AND OBJECTIVES: The International Society for Cellular Therapy (ISCT) proposed a set of minimal markers for identifying human mesenchymal stromal cells (hMSCs) in 2007. Since then, with the growing...
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A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets

Yang M, Kim J, Yang A, Jang J, Jeon TY, Cho SY, Jin DK

X-linked hypophosphatemic rickets is caused by loss-of-function mutations in PHEX, which encodes a phosphate-regulating endopeptidase homolog. We report a 26-year-old man with X-linked hypophosphatemic rickets who showed decreased serum phosphate...
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Etiological trends in male central precocious puberty

Lee J, Kim J, Yang A, Cho SY, Jin DK

PURPOSE: In the present study, the etiological trends in male central precocious puberty (CPP) were examined, and annual distribution was evaluated. METHODS: Seventy-one male CPP subjects who started puberty before 9...
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An atypical case of Noonan syndrome with KRAS mutation diagnosed by targeted exome sequencing

Kim J, Cho SY, Yang A, Jang JH, Choi Y, Lee JE, Jin DK

Noonan syndrome (NS) is a genetic disorder caused by autosomal dominant inheritance and is characterized by a distinctive facial appearance, short stature, chest deformity, and congenital heart disease. In individuals...
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Prevalence and Epidemiological Characteristics of Endoscopically Proven Reflux Esophagitis in Children in Korea

Yang A, Kang B, Choe JY, Kim HS, Kim K, Choe YH

PURPOSE: The prevalence of reflux esophagitis (RE) has increased recently in Korea. Little is known concerning the prevalence and characteristics of RE in pediatric patients. This study investigated the prevalence...
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2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis

Cho EK, Kim J, Yang A, Cho SY, Jin DK

Chromosome 2q37 deletion syndrome is a rare chromosomal disorder characterized by mild to moderate developmental delay, brachydactyly of the third to fifth digits or toes, short stature, obesity, hypotonia, a...
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Immunotherapy for human papillomavirus-associated disease and cervical cancer: review of clinical and translational research

Lee SJ, Yang A, Wu TC, Hung CF

Cervical cancer is the fourth most lethal women's cancer worldwide. Current treatments against cervical cancer include surgery, radiotherapy, chemotherapy, and anti-angiogenic agents. However, despite the various treatments utilized for the...
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Altered Doppler flow patterns in cirrhosis patients: an overview

Iranpour P, Lall C, Houshyar R, Helmy M, Yang A, Choi JI, Ward G, Goodwin SC

Doppler ultrasonography of the hepatic vasculature is an integral part of evaluating precirrhotic and cirrhotic patients. While the reversal of the portal venous flow is a well-recognized phenomenon, other flow...
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Acute Necrotizing Pancreatitis Associated with Mycoplasma pneumoniae Infection in a Child

Yang A, Kang B, Choi SY, Cho JB, Kim YJ, Jeon TY, Choe YH

Mycoplasma pneumoniae is responsible for approximately 20% to 30% of community-acquired pneumonia, and is well known for its diverse extrapulmonary manifestations. However, acute necrotizing pancreatits is an extremely rare extrapulmonary...
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Birth seasonality in Korean Prader-Willi syndrome with chromosome 15 microdeletion

Yang A, Lee YH, Nam SY, Jeong YJ, Kyung Y, Huh R, Lee J, Kwun Y, Cho SY, Jin DK

PURPOSE: Prader-Willi syndrome (PWS) is a well-known genetic disorder, and microdeletion on chromosome 15 is the most common causal mechanism. Several previous studies have suggested that various environmental factors might...
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Validation of Actiwatch for Assessment of Sleep-wake States in Preterm Infants

Yang SC, Yang A, Chang YJ

PURPOSE: The purpose of this study was to validate the Actiwatch with behaviorally determined sleepe-wake state in preterm infants and to explore the influence of postmenstrual age on the accuracy...
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Long-term and stable correction of uremic anemia by intramuscular injection of plasmids containing hypoxia-regulated system of erythropoietin expression

Sun J, Wang Y, Yang J, Du D, Li Z, Wei J, Yang A

  • KMID: 1401759
  • Exp Mol Med.
  • 2012 Nov;44(11):674-683.
Relative deficiency in production of glycoprotein hormone erythropoietin (Epo) is a major cause of renal anemia. This study planned to investigate whether the hypoxia-regulated system of Epo expression, constructed by...
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