Clinical and Experimental Pediatrics

Review Article

Neurology

Genetic tests by next-generation sequencing in children with developmental delay and/or intellectual disability

Ji Yoon Han, In Goo Lee

Clin Exp Pediatr. 2020;63(6):195-202. Published online November 4, 2019

Developments in next-generation sequencing (NGS) techogies have assisted in clarifying the diagnosis and treatment of developmental delay/intellectual disability (DD/ID) via molecular genetic testing. Advances in DNA sequencing technology have not only allowed the evolution of targeted panels but also, and more currently enabled genome-wide analyses to progress from research era to clinical practice. Broad acceptance of accuracy- guided targeted gene...

DOI: https://doi.org/10.3345/kjp.2019.00808

The role of cytokines in seizures: interleukin (IL)-1β, IL-1Ra, IL-8, and IL-10

Youngah Youn, In Kyung Sung, In Goo Lee

Clin Exp Pediatr. 2013;56(7):271-274. Published online July 19, 2013

Crossref 57

Brain insults, including neurotrauma, infection, and perinatal injuries such as hypoxic ischemic encephalopathy, generate inflammation in the brain. These inflammatory cascades induce a wide spectrum of cytokines, which can cause neuron degeneration, have neurotoxic effects on brain tissue, and lead to the development of seizures, even if they are subclinical and occur at birth. Cytokines are secreted by the glial...

DOI: https://doi.org/10.3345/kjp.2013.56.7.271

Case Report

A Case of 18 Ring Chromosome

Joong Hyun Bin, Moon Young Song, In Goo Lee, Won Bae Lee, Byung Churl Lee

Clin Exp Pediatr. 2001;44(6):683-686. Published online June 15, 2001

A ring 18 chromosome(18r) karyotype is a rare disorder characterized by short stature, obesity, microcephaly, mental retardation, micropenis, cryptorchidism, hypertelorism, epicanthal folds, micrognathia, and small hands with short tapering fingers. A 22-month-old girl was referred to our department of pediatrics because of ptosis and delayed development. Karyotype revealed ring 18 and dicentric ring 18 chromosome(46,XX,r(18)[45]/45,XX,-18[7]/46,XX,dic r(18)[3]). Fluorescent in situ hybridization...

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Clinical Lecture

Recent Advances in Febrile Convulsion

In Goo Lee

Clin Exp Pediatr. 2000;43(8):1021-1028. Published online August 15, 2000

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Cited By 22	Retinopathy of prematurity: a review of epidemiology and current treatment strategies
Cited By 20	Genetic factors in precocious puberty
Cited By 18	Global relationship between parent and child obesity: a systematic review and meta-analysis
Cited By 14	Gross motor dysfunction and balance impairments in children and adolescents with Down syndrome: a systematic review
Cited By 13	Etiological and pathophysiological enigmas of severe coronavirus disease 2019, multisystem inflammatory syndrome in children, and Kawasaki disease

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