- Molecular Diagnostic Test for Prader-Willi Syndrome with SNRPN Expression
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Chung SC, Kim DH, Hong CH
- KMID: 2193801
- J Korean Soc Pediatr Endocrinol.
- 1999 Dec;4(2):226-230.
PURPOSE: Prader-Willi Syndrome(PWS) is caused by absence of paternal contributions of the chromosome region 15q11-q13. To detact this region, high resolutional cytogenetic analysis, FISH with probe at PWS critical region... -
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- A Case of Mosaicism in Prader-Willi Syndrome:Detection Using Fluorescent in Situ Hybridization
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Chung SC, Kim DH
- KMID: 2193692
- J Korean Soc Pediatr Endocrinol.
- 2000 Jun;5(1):121-126.
Prader-Willi syndrome is caused by absence of paternal contribution of chromosome region 15q11-q13. PWS is clinically suspected and can be confirmed by laboratory tests. It is accepted that DNA methylation... -
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- Genetics of Prader-Willi syndrome and Prader-Will-Like syndrome
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Cheon CK
- KMID: 2366787
- Ann Pediatr Endocrinol Metab.
- 2016 Sep;21(3):126-135.
- doi: 10.6065/apem.2016.21.3.126
The Prader-Willi syndrome (PWS) is a human imprinting disorder resulting from genomic alterations that inactivate imprinted, paternally expressed genes in human chromosome region 15q11-q13. This genetic condition appears to be... -
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- The Usefulness of Fluorescence in Situ Hybridization(FISH) in the Diagnosis of Prader-Willi Syndrome
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Yang YH, Kim DH, Chung SC, Sohn YS, Kim MS
- KMID: 2335473
- J Korean Pediatr Soc.
- 2000 Mar;43(3):360-364.
PURPOSE: To detect microdeletion of 15q11-13 region, high resolution cytogenetic analysis or FISH with probe at Prader-Willi syndrome region can be used. We tried to evaluate whether FISH with SNRPN... -
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- Methylation Patterns of Small Nuclear Ribonucleoprotein Polypeptide N (SNRPN) Related to the Germ Cell Differentiation of Human Germ Cell Tumors
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Jun SY, Kim KR, Choi J, Ro JY
- KMID: 1521691
- Korean J Pathol.
- 2007 Feb;41(1):21-29.
BACKGROUND: The histogenesis and interrelationship of the various types of germ cell tumors (GCTs) have been proposed. Dysgerminoma/seminoma (D/S) is a primitive GCT that has not acquired the potential for... -
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- Clinical Characteristics and Genetic Analysis of Prader-Willi Syndrome
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Lee JE, Moon KB, Hwang JH, Kwon EK, Kim SH, Kim JW, Jin DK
- KMID: 2207178
- J Korean Pediatr Soc.
- 2002 Sep;45(9):1126-1133.
PURPOSE: Prader-Willi syndrome(PWS) is a complex disorder affecting multisystems with characteristic clinical features. Its genetic basis is an expression defect in the paternally derived chromosome 15q11-q13. We analyzed the clinical... -
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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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