- Adrenal Cortical Neoplasm with Uncertain Malignant Potential Arising in the Heterotopic Adrenal Cortex in the Liver of a Patient with Beckwith-Wiedemann Syndrome
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Kim EN, Song DE, Yoon HM, Lee BH, Kim CJ
- KMID: 2465453
- J Pathol Transl Med.
- 2019 Mar;53(2):129-135.
- doi: 10.4132/jptm.2018.11.13
Patients with Beckwith-Wiedemann syndrome (BWS) are predisposed to developing embryonal tumors, with hepatoblastoma being the most common type. Our patient showed hemihypertrophy, macroglossia, and paternal uniparental disomy in chromosome 11... -
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- A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22
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Choi SA, Kim SY, Yoon J, Choi J, Park SS, Seong MW, Kim H, Hwang H, Choi JE, Chae JH, Kim KJ, Kim S, Lee YJ, Nam SO, Lim BC
- KMID: 2425993
- Ann Lab Med.
- 2017 Nov;37(6):516-521.
- doi: 10.3343/alm.2017.37.6.516
BACKGROUND: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare inherited disorder characterized by infantile-onset macrocephaly, slow neurologic deterioration, and seizures. Mutations in the causative gene, MLC1, are found in... -
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- A case of maternal uniparental disomy of chromosome 20 detected by noninvasive prenatal test of 1,000 high-risk pregnancies
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Cha DH, Lee J, Jeon YJ, Jung YW, Jang JH, Lee T, Cho EH
- KMID: 2386607
- J Genet Med.
- 2017 Jun;14(1):31-33.
- doi: 10.5734/JGM.2017.14.1.31
Chromosomal loss in trisomy (trisomy rescue) to generate a disomic fetus can cause confined placental mosaicism and/or feto/placental mosaicism. After trisomy rescue event, there is a risk of fetal uniparental... -
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- Pseudohypoparathyroidism type 1b due to paternal uniparental disomy of chromosome 20q: A case report
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Lee JH, Kim HS, Kim GH, Yoo HW
- KMID: 2386604
- J Genet Med.
- 2017 Jun;14(1):18-22.
- doi: 10.5734/JGM.2017.14.1.18
Pseudohypoparathyroidism type 1b (PHP 1b) is the result of end organ resistance to parathyroid hormone (PTH) in the absence of any features of Albright's hereditary osteodystrophy. There are two subtypes... -
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- Birth seasonality in Korean Prader-Willi syndrome with chromosome 15 microdeletion
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Yang A, Lee YH, Nam SY, Jeong YJ, Kyung Y, Huh R, Lee J, Kwun Y, Cho SY, Jin DK
- KMID: 1789530
- Ann Pediatr Endocrinol Metab.
- 2015 Mar;20(1):40-45.
- doi: 10.6065/apem.2015.20.1.40
PURPOSE: Prader-Willi syndrome (PWS) is a well-known genetic disorder, and microdeletion on chromosome 15 is the most common causal mechanism. Several previous studies have suggested that various environmental factors might... -
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- Prenatal diagnosis of trisomy 7 mosaicism with omphalocele in the first trimester of pregnancy
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Ko MK, Cho IA, Lee JI, Park JK, Shin JK, Choi WJ, Lee SA, Lee JH, Paik WY
- KMID: 2393149
- Korean J Obstet Gynecol.
- 2012 Oct;55(10):751-755.
The trisomy 7 is rare autosomal aneuploidy worldwide, which accounts for 4%-10% of all trisomies, and most of the cases are mosaicism. The partial trisomy 7 mosaicism demonstrates facial deformities,... -
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- Growth Hormone Treatment and Its Effect on Height in Pediatric Patients with Different Genotypes of Prader-Willi Syndrome
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Kwun C, Cho SY, Maeng SH, Jung YJ, Jin DK
- KMID: 1434713
- Ann Pediatr Endocrinol Metab.
- 2012 Sep;17(3):175-178.
- doi: 10.6065/apem.2012.17.3.175
PURPOSE: Differences in phenotypes between the two most common subtypes of Prader-Willi syndrome (PWS) indicate that a distinct response to growth hormone (GH) treatment may exist. To test this hypothesis,... -
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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 Case of Trisomy 8 Mosaicism in a Patient with Secondary Amnorreha without Abnormal Phenotype
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Kang HS, Son YS, Kim SY, Park CM, Shim SS
- KMID: 1851094
- J Genet Med.
- 2011 Jun;8(1):67-70.
- doi: 10.5734/JGM.2011.8.1.67
Constitutional trisomy 8 mosaicism (CT8M) is a relatively rare aneuploidy in humans with characteristic phenotypes including typical craniofacial feature (such as deformed skull, prominent forehead, low-set and/or dysplastic ears), skeletal... -
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- Systematic review of the clinical and genetic aspects of Prader-Willi syndrome
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Jin DK
- KMID: 2073622
- Korean J Pediatr.
- 2011 Feb;54(2):55-63.
- doi: 10.3345/kjp.2011.54.2.55
Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder that is caused by the lack of expression of paternally inherited imprinted genes on chromosome 15q11-q13. This syndrome has a characteristic... -
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- Transient neonatal diabetes mellitus with macroglossia diagnosed by methylation specific PCR (MS-PCR)
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Jin HY, Choi JH, Kim GH, Yoo HW
- KMID: 2281327
- Korean J Pediatr.
- 2010 Mar;53(3):432-436.
- doi: 10.3345/kjp.2010.53.3.432
Transient neonatal diabetes mellitus (TNDM) has been associated with paternal uniparental isodisomy of chromosome 6, paternally inherited duplication of 6q24, or a methylation defect at a CpG island of the... -
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- Phenotype-genotype correlations and the efficacy of growth hormone treatment in Korean children with Prader-Willi syndrome
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Bae KW, Ko JM, Yoo HW
- KMID: 2280405
- Korean J Pediatr.
- 2008 Mar;51(3):315-322.
- doi: 10.3345/kjp.2008.51.3.315
PURPOSE: Prader-Willi syndrome (PWS) is a complex genetic disorder, caused by the deletion of the paternally derived 15q11-13 region or the maternal uniparental disomy of chromosome 15 (mUPD(15)). In this... -
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- Two Cases of Transient Neonatal Diabetes Mellitus in Twin Brothers
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Cho JH, Shin EW, Yang S, Park EY, Kim KN, Lee DY, Oh PS
- KMID: 1568756
- J Korean Soc Pediatr Endocrinol.
- 2004 Dec;9(2):204-207.
Neonatal diabetes mellitus (NDM) is defined as hyperglycemia that presents clinical symptoms within the first month of life and requires insulin therapy to maintain euglycemia. The diabetic condition may be... -
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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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- Genetic Analysis in a Case of Transient Neonatal Diabetes Mellitus with Congenital Adrenal Hyperplasia
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Kwon HJ, Park JA, Lee SL, Kim HS, Jeon DS, Jin DK, Hwang PH
- KMID: 2193629
- J Korean Soc Pediatr Endocrinol.
- 2002 Jun;7(1):116-121.
A case of transient neonatal diabetes mellitus combined with congenital adrenal hyperplasia(CAH) is described. A female infant was born by cesarean delivery due to fetal distress, she had sunken eyeball... -
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- Study of Genetic Imprinting on 3 Cases of Insulin-Dependent Diabetes Mellitus Developed in Early Infantile Period
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Song SM, Kim JS, Oh MR, Yang SW, Han HK, Jin DK
- KMID: 2193876
- J Korean Soc Pediatr Endocrinol.
- 1998 Nov;3(2):213-218.
Infantile onset diabetes mellitus(especially, neonatal diabetes) is rare disorder and may be transient or permanent. Most patients are full-term but small-for-date infants and typical symptoms occur within the first 4-6... -
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- A Case of Prader-Willi Syndrome with Microdeletion of Chromosome 15 q11-q13 Confirmed by FISH
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Jang JH, Song JY, Suh BK, Lee WB, Lee BC
- KMID: 2001546
- J Korean Soc Pediatr Endocrinol.
- 1997 Mar;2(1):145-152.
Prader-Willi(PW)syndrome is characterized by obesity, hypotonia, mental retardation, hypogonadism, short stature, excessive eating and characteristic facial appearance. Diabetes mellitus has been considered a component of PW syndrome. Recently this syndrome... -
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