- A Case of Angelman Syndrome
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Park JC, Kim HD, Lee SH
- KMID: 2177098
- J Korean Child Neurol Soc.
- 1999 May;6(2):359-364.
Angelman syndrome is a rare genetic disorder characterized by developmental delay, speech impairment, ataxic gait, paroxysmal laughter, and seizures. The diagnosis is suspected in infants who have the characteristic clinical... -
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- A Case of Angelman Syndrome with Left Hemicortical Atrophy
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Kim HS, Jin YA, Yoo EG, Chae KY
- KMID: 2007411
- J Korean Child Neurol Soc.
- 2003 Nov;11(2):377-384.
Angelman syndrome is a neurogenetic disorder which results from the loss of expression of a maternal imprinted gene, UBE3A, mapped within 15q11-q13 presenting with various neurodevelopmental problems. We report a... -
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- Anesthetic experience for strabismus surgery in a patient with Angelman syndrome: A case report
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Lee DH, Lee HM
- KMID: 2236539
- Korean J Anesthesiol.
- 2009 Apr;56(4):466-469.
- doi: 10.4097/kjae.2009.56.4.466
Angelman syndrome (AS) is a rare, neurodevelopmental disorder caused by a variety of genetic abnormalities involving the chromosome 15q11-13 region. Clinical manifestations include severe psychomotor retardation, epilepsy, lack of speech,... -
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- Anesthesia of a dental patient with Angelman syndrome: A case report
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Kim BS, Yeo JS, Kim SO
- KMID: 2092279
- Korean J Anesthesiol.
- 2010 Feb;58(2):207-210.
- doi: 10.4097/kjae.2010.58.2.207
Angelman syndrome is characterized by a partial deficit of paired autosomal chromosome 15, which contains a subunit of the GABA (Gamma-Amino Butyric Acid) receptor. Many drugs that act on the... -
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- Anesthetic management in pediatric patient with Angelman syndrome: A case report
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Ok SJ, Kim JH, Son JH, Kim WY, Park YC
- KMID: 2239803
- Korean J Anesthesiol.
- 2009 Dec;57(6):785-788.
- doi: 10.4097/kjae.2009.57.6.785
The Angelman syndrome is characterized by an abnormality of chromosome 15, where a subunit of the gamma amino-butyric acid receptor is coded. The clinical features are developmental delay, microcephaly, wide... -
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- Five Cases of Prader-Willi or Angelman Syndrome Diagnosed by FISH in Neonate and Infancy
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Chung HJ, Kim YR, Han MY, Lee SH
- KMID: 2335481
- J Korean Pediatr Soc.
- 2000 Mar;43(3):417-422.
The Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct syndromes with a shared cytogenetic deletion of chromosome 15q11q13 in most patients. Currently the diagnosis of PWS/AS is clinically... -
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- Epilepsy in Korean patients with Angelman syndrome
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Park SH, Yoon JR, Kim HD, Lee JS, Lee YM, Kang HC
- KMID: 2284423
- Korean J Pediatr.
- 2012 May;55(5):171-176.
- doi: 10.3345/kjp.2012.55.5.171
PURPOSE: The aim of this study was to investigate the natural history of epilepsy and response to anti-epileptic drug treatment in patients with Angelman syndrome (AS) in Korea. METHODS: We retrospectively... -
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- Clinical and Genetic Characteristics of Prader-Willi Syndrome and Angelman Syndrome
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Kim JH, Yum MS, Choi HW, Lee EH, You SJ, Ko TS, Yoo HW
- KMID: 1442115
- J Korean Child Neurol Soc.
- 2011 Aug;19(2):150-157.
PURPOSE: Two different disorders, Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are caused by the deletion of 15q11-13 or the maternal/paternal uniparental disomy of chromosome 15 (mUPD(15)/pUPD(15)) through the genomic... -
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- A Study of Prader-Willi Syndrome and Angelman Syndrome with the Deletion of Same Loci in 15 Chromosome
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Kim DS, Shin YL, Ko TS, Seo EJ, Yoo HW
- KMID: 2177042
- J Korean Child Neurol Soc.
- 2002 Nov;10(2):226-234.
PURPOSE: In general, genetic disorders have the numerical or structural abnormalities of chromosome. There are clinically two different disorders, Prader-Willi syndrome(PWS) and Angelman syndrome(AS), which have the deletion of specific... -
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- Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome
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Cali F, Ragalmuto , Chiavetta , Calabrese , Fichera M, Vinci M, Ruggeri G, Schinocca , Sturnio M, Romano S, Romano V, Elia M
- KMID: 1115268
- Exp Mol Med.
- 2010 Dec;42(12):842-848.
- doi: 10.3858/emm.2010.42.12.087
Angelman syndrome (AS) is a severe neurobehavioural disorder caused by failure of expression of the maternal copy of the imprinted domain located on 15q11-q13. There are different mechanisms leading to... -
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- Clinical Usefulness of Fluorescence in Situ Hybridization (FISH) in the Diagnosis of Genetic disease
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Yang YH, Kang JY, Yang ES, Jang SY, Cho JS, Park YW, Kim IK, Kim SK, Nam MS
- KMID: 2270296
- Korean J Obstet Gynecol.
- 2002 Jun;45(6):1016-1025.
INTRODUCTION: The traditional cytogenetic analysis requires relatively long cell culture time, intensive labour and trained personnel. But, in clinical situations, rapid diagnosis of genetic disease is very important for urgent... -
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- Report on the External Quality Assessment Scheme for Molecular Diagnostics in Korea (2017)
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Kim MJ, Yoon MH, Song JY, Cho SI, Park SS, Seong MW
- KMID: 2437188
- J Lab Med Qual Assur.
- 2018 Dec;40(4):199-210.
- doi: 10.15263/jlmqa.2018.40.4.199
Quality control for genetic analysis has become more important with a drastic increase in testing volume and clinical demands. The molecular diagnostics division of the Korean Association of Quality Assurance... -
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