- A Case of Adult B Lymphoblastic Leukemia with ider(9)(q10)t(9;22)(q34;q11.2) and der(19)t(1;19)(q23;p13.3)
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Jung SI, Cho HS, Lee CH, Jung BC
- KMID: 1781663
- Korean J Lab Med.
- 2010 Dec;30(6):585-590.
- doi: 10.3343/kjlm.2010.30.6.585
In B lymphoblastic leukemia/lymphoma (B-ALL/LBL), t(9;22)(q34;q11.2) and t(1;19)(q23;p13.3) are recurrent cytogenetic abnormalities. The concurrent occurrence of both abnormalities is very rare, and only 3 cases have been previously reported. Here,... -
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- Episodic Ataxia Type 2 with Downbeating Nystagmus Caused by Mutation in the CACNA1A: A Case Report
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Yun S, Chang YJ, Jung SC, Kwon JW, Lee GH, Lee CM, Song YM, Kim JI
- KMID: 1626918
- J Korean Neurol Assoc.
- 2005 Jun;23(3):399-401.
Episodic ataxia type 2 (EA 2) is a rare disorder characterized by intermittent episodes of ataxia with interictal nystagmus. The authors report a patient with EA 2, who presented with... -
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- Neurobiology of Alzheimer's Disease
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Chung YC, Seo SW, Lee SH
- KMID: 2142160
- J Korean Soc Biol Psychiatry.
- 2001 Jun;8(1):62-70.
Alzheimer's disease(AD) is associated with a characteristic neuropathology. The major hallmarks of AD are senile plaques(SPs) and neurofibrillary tangles(NFTs). beta-amyloid protein(Abeta) is derived from the proteolysis of amyloid precursor protein(APP)... -
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- Molecular Neurobiology of Alzheimer's Disease
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Kim YH, Rhee CG, Kim YK, Kim SS
- KMID: 2333738
- J Korean Geriatr Psychiatry.
- 1998 May;2(1):37-46.
Alzheimer's disease (AD), the most common dementia in the elderly, is associated with a characteristic neuropathology:extracellular neuritic plaques (NPs) and intraneuronal neurofibrillary tangles (NFTs). AD is diagnosed clinically on the... -
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- Congenital Myotonic Dystrophy Diagnosed in an Adolescent Period
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Oh JH, Lee JY, Lee JS, Choi JC, Kang JH, Kang SY
- KMID: 2343338
- J Korean Neurol Assoc.
- 2008 Nov;26(4):383-386.
Type 1 myotonic dystrophy (DM1) is an autosomal-dominant inherited disorder with multisystem involvement, caused by an abnormal expansion of CTG sequence of the dystrophia myotonica protein kinase (DMPK) gene on... -
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- Alpha Internexin Expression Related with Molecular Characteristics in Adult Glioblastoma and Oligodendroglioma
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Suh JH, Park CK, Park SH
- KMID: 1786969
- J Korean Med Sci.
- 2013 Apr;28(4):593-601.
- doi: 10.3346/jkms.2013.28.4.593
Alpha-internexin (INA) is a proneuronal gene-encoding neurofilament interacting protein. INA is overexpressed mostly in oligodendroglial phenotype gliomas, is related to 1p/19q codeletion, and is a favorable prognostic marker. We studied... -
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- A Case of Therapy-related Acute Lymphoblastic Leukemia with t(11;19)(q23;p13.3) and MLL/MLLT1 Gene Rearrangement
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Yoo BJ, Nam MH, Sung HJ, Lim CS, Lee CK, Cho YJ, Lee KN, Yoon SY
- KMID: 1096654
- Korean J Lab Med.
- 2011 Jan;31(1):13-17.
- doi: 10.3343/kjlm.2011.31.1.13
Therapy-related ALL (t-ALL) is a rare secondary leukemia that develops after chemotherapy and/or radiotherapy for primary malignancies. Chromosomal 11q23 abnormalities are the most common karyotypic alterations in t-ALL. The t(11;19)(q23;p13)... -
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- Two Cases of Trisomy 19 as a Sole Chromosomal Abnormality in Myeloid Disorders
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Jung SI, Cho HS, Lee CH, Kim KD, Ha JO, Kim MK, Lee KH, Hyun MS
- KMID: 854862
- Korean J Lab Med.
- 2008 Jun;28(3):174-178.
- doi: 10.3343/kjlm.2008.28.3.174
Trisomy 19 is frequently encountered in cases of chronic myeloid leukemia (CML) as a secondary abnormality: however, trisomy 19 rarely occurs as a sole chromosomal abnormality and, to date, it... -
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- A Case of Congenital Myotonic Dystrophy Diagnosed by Molecular Genetics
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Kim HK, Kim JH, Lee YA, Ko TS, Kim KS, Yoo HW, Pi SY, Lee BJ
- KMID: 2177136
- J Korean Child Neurol Soc.
- 1998 May;5(2):356-360.
Congenital myotonic dystrophy is an inherited, autosomal dominant disease that results in a progressive wasting of the skeletal muscle, and sometimes heart and smooth muscles in human. In the newborn... -
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- A Case of Glutaric Aciduria Type 1
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Song JY, Kim CM, Shin YL, Yoo HW
- KMID: 2335675
- J Korean Pediatr Soc.
- 2002 Oct;45(10):1278-1282.
Glutaric aciduria(type 1) is characterized clinically by progressive dystonia and dyskinesia in childhood, pathologically by degeneration of caudate and putamen, biochemically by tissue deficiency of glutaryl-CoA dehydrogenase(GCDH), and is transmitted... -
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- Peutz-Jeghers Syndrome with Intussusception and Anemia
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Hwang JK, Kang WK, Lee SC, Lee YS, Park SM, Rha SE, Oh ST
- KMID: 1566544
- J Korean Soc Coloproctol.
- 2004 Aug;20(4):231-235.
Peutz-Jeghers syndrome is a disease entity consisting of gastrointestinal hamartoma, mucocutaneous pigmentation, and autosomal dominant inheritance. From a surgical standpoint, the syndrome is of significance because the hamartoma may lead... -
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- A Case of Familial Hemiplegic Migraine
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Sa-Kong Y, Lee BH, Bae SN, Lee KW, Nam SO
- KMID: 2007409
- J Korean Child Neurol Soc.
- 2003 Nov;11(2):367-371.
Familial hemiplegic migraine(FHM) is an autosomal dominant subtype of migraine with aura, characterized by the occurrence of hemiplegia during the aura. Two subforms of FHM families exist; pure FHM in... -
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- Establishment and Characterization of New Human Renal Oncocytoma Cell Line(CURO)
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Moon SY, Moon WC
- KMID: 2290448
- Korean J Urol.
- 1998 Nov;39(11):1051-1060.
PURPOSE: Renal oncocytoma has been a focus of interest in urologic oncology. The biologic and molecular characteristics of this disease remains ill defined due to paucity of ideal in vitro... -
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- A study on the chromosomal aberrations in Korean intrahepatic cholangiocarcinomas with comparative genomic hybridization
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Choi SH, Sohn TS, Joh JW, Kim SJ, Heo JS, Kim YI, Lee KS, Cho YH
- KMID: 2244416
- Korean J Hepatobiliary Pancreat Surg.
- 1999 Aug;3(2):77-88.
AIMS AND METHOD: Comparative genomic hybridization serves as a screening test for regions of copy number changes in tumor genomes. I have applied the technique to map DNA losses and... -
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- A Novel 1.13 Mb Interstitial Duplication at 19q13.32 Causing Developmental Delay and Microcephaly in a Pediatric Patient: the First Asian Case Report
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Rim JH, Kim JA, Yoo J
- KMID: 2418909
- Yonsei Med J.
- 2017 Nov;58(6):1241-1244.
- doi: 10.3349/ymj.2017.58.6.1241
Only 6 patients with partial trisomy of the long arm of chromosome 19 (19q), caused by direct interstitial duplications, have been reported until today. Herein, we report a pediatric patient... -
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- Differential Parental Transmission of Markers in BCL3 among Korean Cleft Case-parent Trios
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Park BY, Sull JW, Park JY, Jee SH, Beaty TH
- KMID: 792601
- J Prev Med Public Health.
- 2009 Jan;42(1):1-4.
- doi: 10.3961/jpmph.2009.42.1.1
OBJECTIVES: Isolated cleft lip with or without cleft palate (CL/P) is among the most common human birth defects, with a prevalence of approximately 1 in 700 live births. The B-Cell... -
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