- A Case of Ring Chromosome 14 Syndrome Presenting with Intractable Epilepsy
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Kim MJ, Yu HJ, Lee J, Lee M
- KMID: 2008771
- J Korean Epilepsy Soc.
- 2012 Jun;16(1):33-36.
Ring chromosome 14 syndrome is a rare cytogenetic disorder characterized by typical facial appearance, developmental delay, and intractable epilepsy. There have been about 50 reported cases in the world and... -
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- A Case with Balanced Chromosome Rearrangement Involving Chromosomes 9, 14, and 13 in a Woman with Recurrent Abortion
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Kim SK, Kim HJ, Yang YH, Kim IK, Bai SW, Kim JY, Park KH, Cho DJ, Song CH
- KMID: 720632
- Yonsei Med J.
- 2001 Jun;42(3):345-348.
- doi: 10.3349/ymj.2001.42.3.345
A phenotypically normal couple was referred for cytogenetic evaluation due to three consecutive first-trimester spontaneous abortions. Chromosomal analysis from peripheral blood was performed according to standard cytogenetic methods using G-banding... -
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- Complete trisomy 14 mosaicism: first live-born case in Korea
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Hur YJ, Hwang T
- KMID: 2140716
- Korean J Pediatr.
- 2012 Oct;55(10):393-396.
- doi: 10.3345/kjp.2012.55.10.393
Trisomy 14 mosaicism is a rare chromosome disorder characterized by delayed development, failure to thrive, and facial dysmorphism. Only approximately 30 trisomy 14 mosaicism cases have been reported in the... -
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- A Case of Short Arm Deletion of Chromosome 14
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Lee R, Choi J, Lee WG, Park CM, Paik YK
- KMID: 2103984
- J Korean Pediatr Soc.
- 1981 Feb;24(2):164-168.
No abstract available. -
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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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- Two Cases of Partial Trisomy 4p and Partial Trisomy 14q
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Kim YH, Kim HS, Ryoo NH, Ha JS
- KMID: 1781301
- Ann Lab Med.
- 2013 Jan;33(1):69-74.
- doi: 10.3343/alm.2013.33.1.69
We present clinical and cytogenetic data on 2 cases of partial trisomy 4p and partial trisomy 14q. Both patients had an extra der(14)t(4;14)(p15.31;q12) chromosome due to a 3:1 segregation from... -
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- CD5-negative Blastoid Variant Mantle Cell Lymphoma with Complex CCND1/IGH and MYC Aberrations
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Seok Y, Kim J, Choi JR, Kim YR, Park SJ, Kim SJ, Song J, Lee KA
- KMID: 1781446
- Ann Lab Med.
- 2012 Jan;32(1):95-98.
- doi: 10.3343/alm.2012.32.1.95
The coexistence of CCND1/IGH and MYC rearrangements in mantle cell lymphoma (MCL) is a rare finding associated with a very poor prognosis. In this study, a patient with blastoid variant... -
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- Ataxia-Telangiectasia with Novel Splicing Mutations in the ATM Gene
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Jeong H, Huh HJ, Youn J, Kim JS, Cho JW, Ki CS
- KMID: 1781368
- Ann Lab Med.
- 2014 Jan;34(1):80-84.
- doi: 10.3343/alm.2014.34.1.80
No abstract available. -
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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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- Simultaneous Translocation of Both TCR Loci (14q11) with Rare Partner Loci (Xq22 and 12p13) in a Case of T-lymphoblastic Leukemia
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Kang DH, Kim SH, Jun JW, Lee YW, Shin HB, Ahn JY, Hong DS, Lee YK, Jeon BR
- KMID: 1381689
- Ann Lab Med.
- 2012 May;32(3):220-224.
- doi: 10.3343/alm.2012.32.3.220
The most common recurrent cytogenetic abnormalities in T-lymphoblastic leukemia (T-acute lymphoblastic leukemia [T-ALL]) involve T-cell receptor (TCR) loci and a variety of partner genes, including HOX11, HOX11L2, MYC, and TAL1.... -
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- Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH
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Lee CG, Yun JN, Park SJ, Sohn YB
- KMID: 2055580
- J Genet Med.
- 2013 Jun;10(1):52-56.
- doi: 10.5734/JGM.2013.10.1.52
Mosaic trisomy 14 syndrome is a well-known but unusual chromosomal abnormality with a distinct and recognizable phenotype. Array comparative genomic hybridization (CGH) analysis has recently become a widely used method... -
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- Spectra of Chromosomal Aberrations in 325 Leukemia Patients and Implications for the Development of New Molecular Detection Systems
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Choi HJ, Kim HR, Shin MG, Kook H, Kim HJ, Shin JH, Suh SP, Ryang DW
- KMID: 1094259
- J Korean Med Sci.
- 2011 Jul;26(7):886-892.
- doi: 10.3346/jkms.2011.26.7.886
This study investigated the spectrum of chromosomal abnormalities in 325 leukemia patients and developed optimal profiles of leukemic fusion genes for multiplex RT-PCR. We prospectively analyzed blood and bone marrow... -
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- Congenital Ocular Anomaly in an Infant with Trisomy 14 Mosaicism
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Choi JH, Choi YJ, Kim SY
- KMID: 1387403
- Korean J Ophthalmol.
- 2012 Aug;26(4):316-318.
- doi: 10.3341/kjo.2012.26.4.316
Trisomy 14 mosaicism is a rare chromosomal abnormality with distinct and recognizable clinical features. We report a patient with presumed retinal dystrophy having diffuse retinal pigment epithelial abnormalities, which has... -
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- Cytogenetic Results from 620 Cases of Peripheral Blood Specimen; Special Emphasis on Single Cell Pseudomosaicism
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Lee SR, Shin MK, Baik CS, Lee KH, Cho YS
- KMID: 2287755
- J Clin Pathol Qual Control.
- 1999 Dec;21(2):389-397.
BACKGROUND: Pseudomosaicism resulting from cultural artifact or mitotic error has been well studied in amniocyte culture or chorionic villus sampling (CVS). But the frequencies and patterns of pseudomosaicism in peripheral... -
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- A Case of Mantle Cell Lymphoma with Meningioma
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Kim ES, Goh PG, Kim YJ, Lee SY, Moon HS, Sung JK, Lee BS, Jeong HY
- KMID: 1718468
- Korean J Gastroenterol.
- 2012 Jul;60(1):56-60.
- doi: 10.4166/kjg.2012.60.1.56
Mantle cell lymphoma (MCL) is an uncommon type of gastrointestinal lymphoma. MCL is a distinct subtype of B-cell non-Hodgkin lymphomas. The major subtype of MCL is characterized by the presence... -
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- Unusual chromosomal features in a child with gradual disappearance of right ulna (mono ostolic osteolysis)
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Goswami HK, Shrivastava N, Gopal SK, Sharna S, Chandorkar M, Lee IH, Chang SK
- KMID: 1963058
- J Genet Med.
- 1997 Sep;1(1):11-16.
A nine month old male child presenting degenerating right ulna (massive osteolysis) has been followed up for two years. The bone completely disappeared due to abscesses on the right forearm... -
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- A Case of Male Infertility with a Reciprocal Translocation t(X;14)(p11.4;p12)
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Hwang SH, Lee SM, Seo EJ, Choi KU, Park HJ, Park NC, Choi J, Lee EY
- KMID: 1781474
- Korean J Lab Med.
- 2007 Apr;27(2):139-142.
- doi: 10.3343/kjlm.2007.27.2.139
A chromosomal abnormality was found in about 3.6-7.6% of males presenting with azoospermia or oligospermia. Translocations between X chromosome and autosomes are rarely seen genetic disorders that cause male infertility.... -
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- Clinicopathologic Study of Chromosomal Aberrations in Ocular Adnexal Lymphomas of Korean Patients
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Choung H, Kim YA, Kim N, Lee MJ, Khwarg SI
- KMID: 2363801
- Korean J Ophthalmol.
- 2015 Oct;29(5):285-293.
- doi: 10.3341/kjo.2015.29.5.285
PURPOSE: The incidence and clinical correlation of MALT1 translocation and chromosomal numerical aberrations in Korean patients with ocular adnexal mucosa associated lymphoid tissue (MALT) lymphoma have not yet been reported.... -
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- An 18.3-Mb Duplication on Chromosome 14q With Multiple Cardiac Anomalies and Clubfoot Was Identified by Microarray Analysis
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Yoon JG, Shin S, Jung JW, Lee ST, Choi JR
- KMID: 2373526
- Ann Lab Med.
- 2016 Mar;36(2):194-196.
- doi: 10.3343/alm.2016.36.2.194
No abstract available. -
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- A Case of B-cell Lymphoma, Unclassifiable, with Features Intermediate between Diffuse Large B-cell Lymphoma and Burkitt Lymphoma in a Korean Child
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Ahn JY, Seo YH, Park PW, Kim KH, Park MJ, Jeong JH, Park SH, Song YH
- KMID: 1245258
- Ann Lab Med.
- 2012 Mar;32(2):162-166.
- doi: 10.3343/alm.2012.32.2.162
B-cell lymphoma, unclassifiable, with features intermediate between diffuse large B-cell lymphoma (DLBCL) and Burkitt lymphoma (BL) (intermediate DLBCL/BL), is a heterogeneous group with some features resembling DLBCL and others resembling... -
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