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Rare Cases of PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome in a Korean Family Identified by Next Generation Sequencing

Shin YL, Park YN, Jang MA

Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is an autosomal recessive connective tissue disorder characterized by muscular hypotonia, hyperextensible skin, skin fragility, joint hypermobility, and progressive kyphoscoliosis. The disorder results from a deficiency...
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The Timing of Rapid Infant Weight Gain in Relation to Childhood Obesity

Shin YL

No abstract available.
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Correlation between genetic heterogeneity and variability for response to growth hormone in Noonan syndrome

Shin YL

No abstract available.
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Frequency of Self-Monitoring of Blood Glucose during the School Day Is Associated with the Optimal Glycemic Control among Korean Adolescents with Type 1 Diabetes

Joo EY, Lee JE, Kang HS, Park SG, Hong YH, Shin YL, Sohn M

BACKGROUND: This study aimed to evaluate the relationship between the frequency of self-monitoring of blood glucose (SMBG) and glycosylated hemoglobin (HbA1c) levels among Korean adolescents with type 1 diabetes mellitus...
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Pediatric thyroid disorders

Shin YL

Thyroid hormones play an important role in normal growth and development throughout infancy, childhood, and adolescence. Abnormalities of thyroid function during the fetal period and infancy result in impaired development...
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An update on the genetic causes of central precocious puberty

Shin YL

Central precocious puberty (CPP) is caused by the premature reactivation of the hypothalamic-pituitary-gonadal axis. Genetic, nutritional, and environmental factors play a crucial role in determining pubertal timing. Recently mutations in...
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A novel FBN1 gene mutation associated with early-onset pneumothorax in Marfan syndrome

Park MJ, Lee DH, Shin YL, Hong YH

Marfan syndrome (MFS) is an inherited connective tissue disorder with a mutation in the fibrillin-1 (FBN1) gene. Fibrillin is a major building block of microfibrils, which constitute the structural component...
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Evaluation of Eating Behavior and Nutritional Status Using the Nutrition Quotient in Obese Children

Lim HS, Kim SK, Park YH, Shin YL

BACKGROUND: The increasing incidence of pediatric obesity has recently emerged as a social problem, and children's eating behaviors and nutritional statuses directly affect health. Obesity prevention and treatment must involve...
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Turner syndrome masquerading as normal early puberty

Hong YH, Shin YL

Approximately 50% of patients with Turner syndrome (TS) have complete loss of one X chromosome, whereas the rest of the patients with TS display mosaicism or structural abnormalities of the...
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Clinical Follow-up of Children and Adolescents with Hashimoto's Thyroiditis and Hashitoxicosis

Lee YI, Park JY, Shin YL

  • KMID: 2317692
  • Soonchunhyang Med Sci.
  • 2013 Jun;19(1):17-22.
OBJECTIVE: The purpose is to study the natural course and clinical feature according to thyroid function at diagnosis of Hashimoto's thyroiditis in children and adolescent. We studied to know the...
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Sterile Abscess Formation Associated with Two Different Forms of Gonadotropin-Releasing Hormone Agonist in Central Precocious Puberty

Kim JM, Shin YL

Long-acting formulations of gonadotropin-releasing hormone (GnRH) agonists are indicated for treating central precocious puberty. Leuprolide acetate and triptorelin acetate are widely used in Korea. Local reactions related to GnRH agonists,...
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Comparison of Respiratory Morbidity in Late Preterm and Term Infants at a Single Institution

Choi WH, Yeon EK, Shin YL, Suh WS, Jin JY

  • KMID: 2317653
  • Soonchunhyang Med Sci.
  • 2012 Dec;18(2):85-90.
OBJECTIVE: This study was carried out to evaluate short-term respiratory morbidity in late preterm births compared with term births at a single center in Korea. METHODS: In retrospective study, we reviewed...
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Novel Compound Heterozygote Mutations of the SLC25A13 Gene in an Infant with Neonatal-onset Type II Citrullinemia Detected by Newborn Mass Screening

Lim HS, Kim H, Kim SS, Kim GH, Yoo HW, Shin YL

Citrin deficiency caused by the SLC25A13 gene mutations is associated with both neonatal-onset type II citrullinemia (CTLN2), also known as neonatal intrahepatic cholestasis caused by citrin deficiency and adult-onset CTLN2....
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Characteristics of Pneumothorax in a Neonatal Intensive Care Unit

Lim HS, Kim H, Jin JY, Shin YL, Park JO, Kim CH, Kim SS

PURPOSE: The development of postnatal pneumothorax and its common causes and clinical aspects were studied to promote early diagnosis and proper management. METHODS: A retrospective study of neonates who were hospitalized...
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Genetic Aspects of Idiopathic Hypogonadotropic Hypogonadism

Shin YL

  • KMID: 2192846
  • J Korean Soc Pediatr Endocrinol.
  • 2010 Dec;15(3):157-163.
Idiopathic hypogonadotropic hypogonadism (IHH) is defined by delayed or absent sexual development associated with inappropriately low gonadal sexual hormone and gonadotropin levels in the absence of anatomical or functional abnormalities...
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A Clinical Study of Lobar/Lobular Pneumonia in Children

Lee YH, Shin YL, Suh WS, Shin MY, Park JO

  • KMID: 1474538
  • Pediatr Allergy Respir Dis.
  • 2009 Sep;19(3):271-281.
PURPOSE: We aimed to evaluate the clinical characteristics and etiological organisms associated with lobar/lobular pneumonia in Korean children. METHODS: Children hospitalized due to radiographically confirmed lobar/lobular pneumonia were evaluated prospectively between...
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Hypogonadotropic Hypogonadism and Abnormal Olfactory Bulb Development in CHARGE Syndrome with CHD7 Mutation

Lee SH, Lee YW, Shin YL

  • KMID: 1819682
  • J Korean Soc Pediatr Endocrinol.
  • 2009 Jun;14(1):68-72.
CHARGE syndrome is a congenital malformation disorder that includes Coloboma, Heart defect, Atresia of the choanae, Retarded growth and development, Genital hypoplasia, and Ear abnormalities. Recently hypogonadotropic hypogonadism and abnormal...
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Short-term Efficacy of Monthly Pamidronate Infusion in Patients with Osteogenesis Imperfecta

Choi JH, Shin YL, Yoo HW

We evaluated the efficacy of a monthly infusion of pamidronate on the frequency of fractures, biochemical effects, and bone mineral density in children with osteogenesis imperfecta. Eleven patients from 0.9...
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Bilateral Multiple Benign Paroxysmal Positional Vertigo Combined with Vestibular Neuritis

Choi SJ, Shin YL, Kim YT, Han NS, Choung YH

  • KMID: 1603835
  • J Korean Bal Soc.
  • 2006 Jun;5(1):81-85.
Although classical benign paroxysmal positional vertigo (BPPV) has generally been resolvable by routine manual repositioning maneuvers, nevertheless resistant cases and variant remain a significant problem. Recently, we experienced a case...
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Assessment of Bone Mineral Density

Shin YL

  • KMID: 2193507
  • J Korean Soc Pediatr Endocrinol.
  • 2006 Dec;11(2):123-130.
No abstract available.
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