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First Case of Diffuse Large B-Cell Lymphoma Subtype of Monomorphic Post-Transplant Lymphoproliferative Disorder With 3q27 Translocation

Kim H, Kim IS, Lee EY, Shin DH, Cho SH

No abstract available.
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Clinical characterization of a Korean case with 3p25 deletion

Lee HJ, Kim JH, Cho JH, Lee BH, Choi JH, Yoo HW

Chromosome 3 (3p) deletion syndrome is a rare genomic disorder caused by a deletion at the terminal end of the short arm of chromosome 3. The primary characteristics of the...
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Detection of RUNX1-MECOM Fusion Gene and t(3;21) in a Very Elderly Patient Having Acute Myeloid Leukemia with Myelodysplasia-Related Changes

Yang JJ, Cho SY, Suh JT, Lee HJ, Lee WI, Yoon HJ, Baek SK, Park TS

An 87-yr-old woman was diagnosed with AML with myelodysplasia-related changes (AML-MRC). The initial complete blood count showed Hb level of 5.9 g/dL, platelet counts of 27x10(9)/L, and white blood cell...
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A case of partial trisomy 3p syndrome with rare clinical manifestations

Han DH, Chang JY, Lee WI, Bae CW

Partial trisomy 3p results from either unbalanced translocation or de novo duplication. Common clinical features consist of dysmorphic facial features, congenital heart defects, psychomotor and mental retardation, abnormal muscle tone,...
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CD5-negative Blastoid Variant Mantle Cell Lymphoma with Complex CCND1/IGH and MYC Aberrations

Seok Y, Kim J, Choi JR, Kim YR, Park SJ, Kim SJ, Song J, Lee KA

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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A Case of Concomitant Inv(3)(q21q26) and Cryptic BCR/ABL1 Rearrangement in the Blast Crisis of Chronic Myeloid Leukemia

Lee H, Cho C, Kwon MJ, Nam MH, Lee CK, Kim YK

  • KMID: 2312184
  • Lab Med Online.
  • 2011 Jul;1(3):163-167.
Structural abnormalities of the long arm of chromosome 3 (3q) have been associated with elevated platelet count and hyperplasia of megakaryocytes with dysplasia in various hematological malignancies. Some cases of...
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Spectra of Chromosomal Aberrations in 325 Leukemia Patients and Implications for the Development of New Molecular Detection Systems

Choi HJ, Kim HR, Shin MG, Kook H, Kim HJ, Shin JH, Suh SP, Ryang DW

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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Genome-wide scan of granular corneal dystrophy, type II: confirmation of chromosome 5q31 and identification of new co-segregated loci on chromosome 3q26.3

Lee EJ, Kim KJ, Kim HN, Bok J, Jung SC, Kim EK, Lee JY, Kim HL

Granular corneal dystrophy, type II (CGD2; Avellino corneal dystrophy) is the most common corneal dystrophy among Koreans, but its pathophysiology is still poorly understood. Many reports showed that even though...
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A Case of t(3;3)(q21;q26.2) Associated with Severe Multilineage Dysplasia and Multi-drug Resistance in Blastic Crisis of Chronic Myelogenous Leukemia

Lee SA, Lim J, Kim M, Kim Y, Han K

The t(3;3)(q21;q26.2) is known to be mainly observed in hematologic myeloid malignancies, as a form of 3q21q26 syndrome. Cytogenetic abnormalities of 3q21q26 syndrome result in RPN1-EVI1 fusion transcripts involving ecotropic...
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Identification of a Novel Deletion Region in 3q29 Microdeletion Syndrome by Oligonucleotide Array Comparative Genomic Hybridization

Seo EJ, Jun KR, Yoo HW, Yoo HK, Lee JO

BACKGROUND: The 3q29 microdeletion syndrome is a genomic disorder characterized by mental retardation, developmental delay, microcephaly, and slight facial dysmorphism. In most cases, the microdeletion spans a 1.6-Mb region between...
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A Case of Addition of Chromosome 3 associated with Multiple Anomalies

Suh MA, Lee HJ, Park HJ, Lee KH, Lee GH, Choi EJ, Kim JK, Chung HL, Seo ES, Kim WT

  • KMID: 1750724
  • J Korean Soc Neonatol.
  • 2007 Nov;14(2):237-242.
Chromosomal anomalies are associated with various congenital malformations and impaired development. The addition or duplication of chromosome 3 is a very rare chromosomal anomaly, in comparison to the deletion of...
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Hematologic and Clinical Features of 3q21q26 Syndrome: Extremely Poor Prognosis and Association with Central Diabetes Insipidus

Chung HJ, Seo EJ, Kim KH, Jang S, Park CJ, Chi HS, Lee JH, Lee JH, Lee KH

BACKGROUND: 3q21q26 syndrome includes chromosomal abnormalities of inv(3)(q21q26), t(3;3) (q21;q26), and ins(3;3)(q26;q21q26). It causes hematological diseases by the leukemogenic mechanism that the enhancer of ribophorin I gene in 3q21...
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Sprengel's deformity associated with a de novo balanced translocation involving chromosome 3 and 17

Jung O, Lee JH, Chun CS

This is the first case of a de novo balanced translocation 46, XY, t(3;17)(p12.2;q25) associated with multiple musculoskeletal abnormalities, including Sprengel's deformity (congenital undescended scapula to be reported). This translocation...
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A Case of Type 1 von Hippel-Lindau (VHL) Disease associated with VHL Germline Mutation

Seo JH, Yang JH, Choi PL, Kim YL, Choi YS, Park YH, Ko JH, Kang HC, Kim IJ, Park JG

Von Hippel-Lindau (VHL) disease is an autosomal dominant neoplasia syndrome that result from a germline mutation in the VHL gene. Germline mutation in the VHL gene lead to the development...
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Clinical Usefulness of Fluorescence In Situ Hybridization for the Detection of Bladder Cancer

Kim MH, Choi EH, Kim JH, Kang SY, Chang SG, Yoo KH, Suh JT, Lee WI

  • KMID: 2082801
  • Korean J Lab Med.
  • 2005 Jun;25(3):199-204.
BACKGROUND: Early detection of bladder cancer and its recurrence is the key to long term survival in patients. However, because of nonspecific symptoms, it is difficult to verify such assumption....
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Loss of Heterozygosity on Chromosomes 3p,8p,9p and 17p in the Progression of Squamous Cell Carcinoma of the Larynx

Yoo WJ, Cho SH, Lee YS, Park GS, Kim MS, Kim BK, Park WS, Lee JY, Kang CS

Previous molecular genetic studies of laryngeal squamous cell carcinoma (SCC)have shown certain chromosomal regions with recurring alterations. But studies of sequential molecular alterations and genetic progression model of laryngeal SCC...
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Analysis of Loss of Heterozygosity on the Chromosome 3, 4, 5 and 11 in Uterine Cervical Carcinomas

Nam JH, Jung JJ, Choi C

  • KMID: 2172444
  • Chonnam Med J.
  • 2000 Dec;36(4):349-356.
Infection of cervical epithelial cells with specific human papilloma virus subtypes appears to be necessary etiological factors for most cervical carcinomas, but yet additional genetic changes such as activation of...
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Loss of Heterozygosity on Chromosome 3p, 9p, 17p in Oral & Oropharyngeal Squamous Cell Carcinoma

Lee SH, Kim MS, Sun DI, Song CJ, Cho SH

  • KMID: 2274729
  • Korean J Otolaryngol-Head Neck Surg.
  • 2000 Jul;43(7):746-750.
BACKGROUND AND OBJECTIVES: Patients of oral and oropharyngeal squamous cell carcinoma in the comparable stage have diverse clinical courses and responses to similar treatment. Understanding the genetic alterations that occur...
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Phylogenetically interrelated ETS genes, ETV1, ERM and E1A-F locate on different chromosomes

Jeon IS, Shapiro DN

ETV1, ERM and E1A-F are members of the multigene ETS domain containing a class of transcription factors, first identified in the genome of the avian retrovirus E26. Based upon...
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Molecular Genetic Investigation of Sporadic Renal Cell Carcinoma: Analysis of Allele Loss on Chromosome 3p

Choi JH, Choi HY, Lee HR, Lee SW, Park KH, Lee KS, Kim DS, Chai SE

  • KMID: 2290021
  • Korean J Urol.
  • 1998 Jan;39(1):23-29.
PURPOSE: Renal cell carcinoma has been characterized by an abnormality on the short arm of chromosome 3, which suggests the presence of a tumor suppressor gene at this location....
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