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De Novo San Luis Valley Syndrome-like der(8) Chromosome With a Concomitant dup(8p22) in a Mexican Girl

Sánchez-Casillas AL, Rivera H, Castro-Martínez AG, García-Ortiz JE, Córdova-Fletes C, Mendoza-Pérez P

No abstract available.
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A Novel KIT INDEL Mutation in Acute Myeloid Leukemia With t(8;21)(q22;q22); RUNX1-RUNX1T1

Lee JH, Park C, Kim SH, Shin MG

No abstract available.
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Clinical Prognostic Factors in 86 Chinese Patients with Primary Myelodysplastic Syndromes and Trisomy 8: A Single Institution Experience

Yue QF, Chen L, She XM, Hu B, Hu Y, Zou P, Liu XY

PURPOSE: The objective was to determine the characteristics and prognostic factors of 86 Chinese patients with trisomy 8 aberrations and compare the prognostic value of International Prognostic System (IPSS) and...
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A t(8;9)(p22;p24)/PCM1-JAK2 Translocation in a Patient With Myeloproliferative Neoplasm and Myeloid Sarcoma: First Report in Korea

Song I, Lee DH, Lee JH, Jang S, Huh JR, Seo EJ

No abstract available.
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A Case of Systemic Mastocytosis Associated with Acute Myeloid Leukemia Terminating as Aleukemic Mast Cell Leukemia after Allogeneic Hematopoietic Stem Cell Transplantation

Bae MH, Kim HK, Park CJ, Seo EJ, Park SH, Cho YU, Jang S, Chi HS, Lee KH

In up to 40% of systemic mastocytosis (SM) cases, an associated clonal hematological non-mast cell lineage disease such as AML is diagnosed before, simultaneously with, or after the diagnosis of...
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MYC Rearrangement Involving a Novel Non-immunoglobulin Chromosomal Locus in Precursor B-cell Acute Lymphoblastic Leukemia

Seo JY, Lee SH, Kim HJ, Yoo KH, Koo HH, Cho YG, Choi SI, Kim SH

MYC rearrangement, a characteristic cytogenetic abnormality of Burkitt lymphoma and several subsets of other mature B-cell neoplasms, typically involves an immunoglobulin gene partner. Herein, we describe a case of precursor...
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Genetic aberrations on the short arm of chromosome 8 (8p) in tongue carcinomas

Murano A, Ono K, Koike H, Endo Y, Shimada K, Kawasaki K, Nomura H, Shiiba M, Uzawa K, Tanzawa H

Aberrations on the short arm of chromosome 8 (8p) are frequently observed in several human cancers. In this study, 20 squamous cell carcinoma (SCC) specimens from the tongue were examined...
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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

Ahn JY, Seo YH, Park PW, Kim KH, Park MJ, Jeong JH, Park SH, Song YH

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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Prenatal Diagnosis of a Satellited Chromosome 8p Results from a de novo Cryptic Translocation between Chromosomes 8 and 22

Oh AR, Lee BY, Choi EY, Ryu HM, Lee SJ, Jung JY, Park SY

  • KMID: 2184491
  • J Genet Med.
  • 2011 Dec;8(2):135-138.
The authors of the present study report the prenatal detection of a chromosomal abnormality with additional satellites on the distal short arm of chromosome 8. A 35-year-old woman was referred...
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The general anesthesia experience of deletion 8p syndrome patient: A case report

Shin WJ, Kim SD, Kim KH

A deletion 8p syndrome is a relatively uncommon congenital disease characterized by mental retardation associated with multiple malformation that make anesthetic management a challenge. Anesthetic management of a patient with...
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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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A Case of Trisomy 8 Mosaicism in a Patient with Secondary Amnorreha without Abnormal Phenotype

Kang HS, Son YS, Kim SY, Park CM, Shim SS

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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Congenital Zinc Deficiency from Mutations of the SLC39A4 Gene as the Genetic Background of Acrodermatitis Enteropathica

Park CH, Lee MJ, Kim HJ, Lee G, Park JW, Cinn YW

Acrodermatitis enteropathica (AE) is an autosomal recessive disorder with the clinical triad of acral dermatitis, diarrhea and alopecia. AE is known to be caused by mutations of the SLC39A4 gene...
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Aplastic Anemia with Trisomy 8 and Trisomy 9 in Intestinal Behcet's Disease

Chung JW, Cheon JH, Lee KJ, Kim JS, Jang SJ, Yang WI, Kim TI, Kim WH

Behcet's disease is a multisystemic inflammatory disease characterized with recurrent oral ulcer, genital ulcer, and multiple organ involvement. Aplastic anemia is one of the rarest complications of Behcet's disease. There...
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Near-tetraploidy Acute Myeloid Leukemia with RUNX1-RUNX1T1 Rearrangement Due to Cryptic t(8;21)

Im M, Lee JK, Lee DY, Hong YJ, Hong SI, Kang HJ, Chang YH

Tetraploidy or near-tetraploidy is a rare cytogenetic abnormality found in AML, and is divided into primary and secondary forms. The secondary tetraploidy or near-tetraploidy found in AML is known to...
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A Case of Behcet's Disease Associated with Myelodysplastic Syndrome

Min JA, Kim JE, Oh ST, Cho SG, Cho BK, Park HJ

  • KMID: 2247754
  • Korean J Dermatol.
  • 2009 Nov;47(11):1309-1313.
Behcet's disease (BD) is a multisystemic inflammatory disease that affects various organs and it causes mucocutaneous lesions. BD is only rarely associated with leukemia or other hematologic disorders. Many cases...
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Detection of PML/RARA Rearrangement by Reverse Transcriptase-PCR and Sequencing in a Case of Microgranular Acute Promyelocytic Leukemia Lacking t(15;17) on Karyotype and FISH

Kim KE, Woo KS, Kim SH, Han JY

We report a case of morphologically microgranular acute promyelocytic leukemia with PML/RARA fusion transcripts demonstrated by reverse transcriptase-PCR and cDNA sequencing, and no PML/RARA fusion detected by karyotype and FISH...
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De novo interstitial direct duplication 8 (p21.3p23.1) with Pierre Robin sequence

Lee SM, Park MS, Park KI, Namgung R, Lee C, Lee JS, Lee KA, Choi JR

The Pierre Robin sequence (PRS) is the nonrandom association of micrognathia, cleft palate, and glossoptosis, leading to respiratory and feeding difficulties that appear neurogenic rather than mechanical in causation. Genetic...
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A Case of a del(8p)/dup(8q) Recombinant Chromosome

Kim JY, Im HB, Son SH, Jeong SY, Sung MJ, Seo SS

  • KMID: 2144510
  • J Korean Soc Neonatol.
  • 2009 May;16(1):76-80.
A male baby with intrauterine growth retardation had a short neck, small hands and feet, hypospadia, both grade I hydronephrosis, type II atrial septal defect, and moderate valvular pulmonary stenosis....
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Tetrasomy 8 in a Patient with Acute Monoblastic Leukemia

Kim J, Park TS, Song J, Lee KA, Lee SG, Cheong JW, Choi JR

Trisomy 8 is one of the most frequent numerical chromosomal abnormalities observed in hematological malignancies, whereas tetrasomy 8 is a clonal aberration seen mainly in myeloid disorders such as acute...
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