- Bisphosphonate Use Does Not Impact Survival in Patients with Pancreatic Cancer: A Propensity Score Matching Analysis
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Zylberberg HM, Rustgi SD, Yang A, Aronson A, Kessel E, Amin S, Lucas AL
- KMID: 2520130
- Gut Liver.
- 2021 Sep;15(5):782-790.
- doi: 10.5009/gnl20297
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
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Bae S, Yang A, Ahn JH, Kim J, Park HK
- KMID: 2517214
- J Genet Med.
- 2021 Jun;18(1):60-63.
- doi: 10.5734/JGM.2021.18.1.60
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
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Kim Hn, Shim JY, Ko JH, Yang A, Shim JW, Kim DS, Jung HL, Kwak JH, Sol IS
- KMID: 2508504
- J Korean Med Sci.
- 2020 Nov;35(43):e391.
- doi: 10.3346/jkms.2020.35.e391
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
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Kim YH, Jung HL, Yang A, Kwak JH, Kim DS, Shim JY, Shim JW
- KMID: 2500513
- Clin Pediatr Hematol Oncol.
- 2020 Apr;27(1):67-71.
- doi: 10.15264/cpho.2020.27.1.67
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
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Kim S, Lee YS, Kim DH, Yang A, Lee T, Hwang SD, Kwon DG, Lee JE
- KMID: 2460770
- Ann Pediatr Endocrinol Metab.
- 2019 Sep;24(3):207-211.
- doi: 10.6065/apem.2019.24.3.207
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
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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
- KMID: 2452034
- Korean J Pediatr.
- 2019 Jun;62(6):224-234.
- doi: 10.3345/kjp.2018.06968
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
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Yang A, Kim J, Cho SY, Lee JE, Kim HJ, Jin DK
- KMID: 2447378
- Ann Pediatr Endocrinol Metab.
- 2019 Mar;24(1):60-63.
- doi: 10.6065/apem.2019.24.1.60
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
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Zhang B, Kasoju N, Li Q, Ma J, Yang A, Cui Z, Wang H, Ye H
- KMID: 2447227
- Int J Stem Cells.
- 2019 Mar;12(1):84-94.
- doi: 10.15283/ijsc18102
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
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Yang M, Kim J, Yang A, Jang J, Jeon TY, Cho SY, Jin DK
- KMID: 2432276
- Ann Pediatr Endocrinol Metab.
- 2018 Dec;23(4):229-234.
- doi: 10.6065/apem.2018.23.4.229
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
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Lee J, Kim J, Yang A, Cho SY, Jin DK
- KMID: 2417763
- Ann Pediatr Endocrinol Metab.
- 2018 Jun;23(2):75-80.
- doi: 10.6065/apem.2018.23.2.75
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
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Kim J, Cho SY, Yang A, Jang JH, Choi Y, Lee JE, Jin DK
- KMID: 2396141
- Ann Pediatr Endocrinol Metab.
- 2017 Sep;22(3):203-207.
- doi: 10.6065/apem.2017.22.3.203
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
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Yang A, Kang B, Choe JY, Kim HS, Kim K, Choe YH
- KMID: 2390547
- Pediatr Gastroenterol Hepatol Nutr.
- 2017 Sep;20(3):160-166.
- doi: 10.5223/pghn.2017.20.3.160
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
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Cho EK, Kim J, Yang A, Cho SY, Jin DK
- KMID: 2383909
- Ann Pediatr Endocrinol Metab.
- 2017 Jun;22(2):129-132.
- doi: 10.6065/apem.2017.22.2.129
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
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Lee SJ, Yang A, Wu TC, Hung CF
- KMID: 2374253
- J Gynecol Oncol.
- 2016 Sep;27(5):e51.
- doi: 10.3802/jgo.2016.27.e51
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
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Iranpour P, Lall C, Houshyar R, Helmy M, Yang A, Choi JI, Ward G, Goodwin SC
- KMID: 2382014
- Ultrasonography.
- 2016 Jan;35(1):3-12.
- doi: 10.14366/usg.15020
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
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Yang A, Kang B, Choi SY, Cho JB, Kim YJ, Jeon TY, Choe YH
- KMID: 2068800
- Pediatr Gastroenterol Hepatol Nutr.
- 2015 Sep;18(3):209-215.
- doi: 10.5223/pghn.2015.18.3.209
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
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Yang A, Lee YH, Nam SY, Jeong YJ, Kyung Y, Huh R, Lee J, Kwun Y, Cho SY, Jin DK
- KMID: 1789530
- Ann Pediatr Endocrinol Metab.
- 2015 Mar;20(1):40-45.
- doi: 10.6065/apem.2015.20.1.40
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
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Yang SC, Yang A, Chang YJ
- KMID: 1972126
- Asian Nurs Res.
- 2014 Sep;8(3):201-206.
- doi: 10.1016/j.anr.2014.06.002
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
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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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