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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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Relationship between Breastfeeding, Birth History, and Acute Pyelonephritis in Infants

Lee YJ, Kim KM, Jung HL, Shim JY, Kim DS, Shim JW

BACKGROUND: Although the clinical importance of the immunological benefits of breastfeeding has been emphasized for decades, their direct relationship with acute pyelonephritis (APN) is still not clear. Our goal was...
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Osteogenesis imperfecta and combined orthodontics and orthognathic surgery: a case report on two siblings

Kim DY, Baik U, Jeon JH

Osteogenesis imperfecta is a heterogeneous group of connective tissue diseases that is predominantly characterized by bone fragility and skeletal deformity. Two siblings with undiagnosed type I osteogenesis imperfecta underwent orthognathic...
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Intrafamilial variability and clinical heterogeneity in a family with PLA2G6-associated neurodegeneration

Park JK, Youn J, Cho JW

Phospholipase A2 group VI (PLA2G6)-associated neurodegeneration (PLAN) is an autosomal recessive neurodegenerative disease with a wide clinical spectrum; however, the genotype-phenotype correlation is unknown. Here, we report different phenotypes in...
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Classification of Common Relationships Based on Short Tandem Repeat Profiles Using Data Mining

Jeong SJ, Lee HJ, Lee SD, Lee SH, Park SJ, Kim JS, Lee JW

We reviewed past studies on the identification of familial relationships using 22 short tandem repeat markers. As a result, we can obtain a high discrimination power and a relatively accurate...
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Cohort Profile: The Cardiovascular and Metabolic Diseases Etiology Research Center Cohort in Korea

Shim JS, Song BM, Lee JH, Lee SW, Park JH, Choi DP, Lee MH, Ha KH, Kim DJ, Park S, Lee WW, Youm Y, Shin EC, Kim HC

Mortalities from cardiovascular disease in Korea have decreased markedly over the past three decades. The major cardiovascular and metabolic risk factors, however, remain prevalent, and their burden on health is...
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The Analysis of Self-Mutilation in Adolescence Based on the Theory of Mentalization: From Sukhvinder in the Novel ‘Casual Vacancy’

Oh MA, Park C, Lee YJ, Hong M, Han JH, Oh SH, Park JH, Bahn GH

  • KMID: 2452879
  • J Korean Acad Child Adolesc Psychiatry.
  • 2019 Jul;30(3):100-108.
  • doi: 10.5765/jkacap.190014
OBJECTIVES: Adolescence involves a number of developmental processes, as well as unique psychological characteristics and behaviors. An increased rate of internet and game addictions, school violence, and suicide may either...
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Coexistence of Excessive Weight Gain and Celiac Disease in Children: An Unusual Familial Condition

Calcaterra V, Regalbuto , Madè A, Magistrali M, Leonard MM, Cena H

Excessive weight gain in children diagnosed with celiac disease (CD) is becoming more common. We describe 2 siblings (9-year and 6 months-old female and 6-year and 9 months-old male) with...
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Investigation of Maternal Effects, Maternal-Fetal Interactions, and Parent-of-Origin Effects (Imprinting) for Candidate Genes Positioned on Chromosome 18q21, in Probands with Schizophrenia and their First-Degree Relatives

Lee KY, Lee BD, Park JM, Lee YM, Moon E, Jeong HJ, Kim SY, Suh H, Chung YI, Kim SC

OBJECTIVE: A popular design for the investigation of such effects, including effects of parent-of-origin (imprinting), maternal genotype, and maternal-fetal genotype interactions, is to collect deoxyribonucleic acid (DNA) from affected offspring...
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A novel frameshift mutation of PRRT2 in a family with infantile convulsions and choreoathetosis syndrome: c.640delinsCC (p.Ala214ProfsTer11)

Park BM, Kim YO, Kim MK, Woo YJ

The infantile convulsions and choreoathetosis (ICCA) syndrome is defined when two overlapping clinical features of benign familial infantile epilepsy (BFIE) and paroxysmal kinesigenic dyskinesia (PKD) are present in an individual...
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Prevalence and associates of obesity and overweight among school-age children in a rural community of Thailand

Nonboonyawat T, Pusanasuwannasri W, Chanrat N, Wongthanavimok N, Tubngern D, Panutrakul P, Mungthin M, Nivesvivat T, Hatthachote P, Rangsin R, Piyaraj P

PURPOSE: Information about overweight and obesity among students in rural areas of Thailand is limited. Therefore, we aimed to determine overweight and obesity prevalences and associated factors among school-aged children...
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Is There Any Association Between Childhood Traumatic Experiences, Dissociation and Psychotic Symptoms in Schziophrenic Patients?

Akbey ZY, Yildiz M, Gündüz N

OBJECTIVE: The aim of this study was to investigate the rates childhood traumatic experiences (CTEs) of schizophrenia patients and to examine relationship between childhood traumatic experiences, dissociation and psychotic symptoms. METHODS:...
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Successful engraftment after infusion of multiple low doses of CD34+ cells from a poorly matched sibling donor in a patient with severe aplastic anemia

Kum CD, Lee MJ, Park JE

The dose of CD34+ cells is known to influence the outcome of allogeneic peripheral blood stem cell (PBSC) and/or T-cell-depleted transplantation. A previous study proposed that 2×10⁶ CD34+ cells/kg is...
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Acute Necrotizing Encephalopathy in Children: a Long Way to Go

Lee YJ, Hwang SK, Kwon S

BACKGROUND: Acute necrotizing encephalopathy (ANE) is a rare, but potentially life threatening neurological condition in children. This study aimed to investigate its clinical spectrum, diagnostic and therapeutic dilemma, and prognosis. METHODS:...
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Two Cases of Recurrent Nasal Polyps in Siblings-Woakes' Syndrome

Lee CB, Jung NY, Loh YJ, Bae WY

Woakes' syndrome is a group of disease which include recurrent nasal polyps resulting in the broadening of the nasal pyramid, the onset of hypoplasia of frontal sinus and bronchiectasis, as...
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Benign Recurrent Intrahepatic Cholestasis Type 2 in Siblings with Novel ABCB11 Mutations

Sohn MJ, Woo MH, Seong MW, Park SS, Kang GH, Moon JS, Ko JS

Benign recurrent intrahepatic cholestasis (BRIC), a rare cause of cholestasis, is characterized by recurrent episodes of cholestasis without permanent liver damage. BRIC type 2 (BRIC2) is an autosomal recessive disorder...
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Familial Pityriasis Rubra Pilaris in Siblings

Woo SH, Park SW, Kwak HB, Park SK, Yun SK, Kim HU, Park J

  • KMID: 2440730
  • Korean J Dermatol.
  • 2019 Feb;57(2):97-98.
No abstract available.
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Two Compound Heterozygous Were Identified in SLC26A4 Gene in Two Chinese Families With Enlarged Vestibular Aqueduct

Yu Y, Yang Y, Lu J, Jin Y, Yang Y, Hong E, Shi J, Chen F, Han S, Chu P, Guo Y, Ni X

OBJECTIVES: To investigate the genetic causes of hearing loss with enlarged vestibular aqueduct (EVA) in two children from unrelated two Chinese families. METHODS: Sanger sequencing of all coding exons in SLC26A4...
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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...
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Clinical significance of T cell receptor excision circle (TREC) quantitation after allogenic HSCT

Mikhael NL, Elsorady M

BACKGROUND: Hematopoietic stem cell transplantation (HSCT) is a well-established treatment modality for a variety of diseases. Immune reconstitution is an important event that determines outcomes. The immune recovery of T...
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