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Developmental Delay and Rehabilitation in an Infant with Partial Trisomy 1q32.1 to 1q44: A Case Report

Kim WK, Lee NM, Lim IS, Chae SA, Yun SW, Yi DY, Kim SY

Partial trisomy 1q is a rare chromosomal disorder characterized by ventriculomegaly with craniofacial, renal, cardiac, and finger and toe anomalies. Most reported cases of partial trisomy1q have involved stillborn or...
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Genetically Independent Tetranucleotide to Hexanucleotide Core Motif SSR Markers for Identifying Lentinula edodes Cultivars

Saito T, Sakuta G, Kobayashi , Ouchi K, Inatomi S

For the purpose of protecting the rights of Lentinula edodes breeders, we developed a new simple sequence repeat (SSR) marker set consisting only of genetically independent tetranucleotide or longer core...
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De novo transcriptome sequencing and gene expression profiling with/without B-chromosome plants of Lilium amabile

Park D, Kim JH, Kim NS

Supernumerary B chromosomes were found in Lilium amabile (2n = 2x = 24), an endemic Korean lily that grows in the wild throughout the Korean Peninsula. The extra B chromosomes...
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Concurrent SHORT syndrome and 3q duplication syndrome

Boaz AM, Grasso SA, DeRogatis , Beesley EN

SHORT syndrome is an extremely rare congenital condition due to a chromosomal mutation of the PIK3R1 gene found at 5q13.1. SHORT is a mnemonic representing six manifestations of the syndrome:...
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The incidence of atypical patterns of BCR-ABL1 rearrangement and molecular-cytogenetic response to tyrosine kinase inhibitor therapy in newly diagnosed cases with chronic myeloid leukemia (CML)

Švabek ZT, Josipović M, Horvat I, Zadro R, Davidović-Mrsić S

BACKGROUND: To analyze the frequency of atypical fluorescence in situ hybridization signal patterns and estimate the complete cytogenetic response (CCyR) and major molecular response (MMR) during 12 months of tyrosine...
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Chromosomal aberrations in benign prostatic hyperplasia patients

Altok M, Bagci O, Umul M, Gunes M, Akyuz M, Uruc F, Uz E, Soyupek S

PURPOSE: To investigate the chromosomal changes in patients with benign prostatic hyperplasia (BPH). MATERIALS AND METHODS: A total of 54 patients diagnosed with clinical BPH underwent transurethral prostate resection to address...
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Computational Approach for Protein Structure Prediction

Venkatesan A, Gopal J, Candavelou M, Gollapalli S, Karthikeyan K

OBJECTIVES: To predict the structure of protein, which dictates the function it performs, a newly designed algorithm is developed which blends the concept of self-organization and the genetic algorithm. METHODS: Among...
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Molecular Cytogenetic Characterization of Supernumerary Marker Chromosomes by Chromosomal Microarray

Bae MH, Yoo HW, Lee JO, Hong M, Seo EJ

  • KMID: 2184488
  • J Genet Med.
  • 2011 Dec;8(2):119-124.
PURPOSE: Supernumerary marker chromosome (SMC) could be associated with various phenotypic abnormalities based on the chromosomal origin of SMCs. The present study aimed to determine the genomic contents of SMCs...
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A de novo Proximal 6q Deletion Confirmed by Array Comparative Genomic Hybridization

Woo KS, Kim JE, Kim KE, Kim MJ, Yoo JH, Ahn HS, Shaffer LG, Han JY

Deletions of chromosome 6q, particularly in the proximal region, are relatively rare. Here, we report on a de novo interstitial deletion of (6)(q13q16.2) in a girl with facial dysmorphism, congenital...
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Microsatellite Instability and p53 Gene Loss of Heterozygosity in Hepatocellular Carcinoma

Kim JS, Lim MS, Kim DJ, Kim JS, Kim KS, Kim HK, Cho SJ, Kwon MJ, Nam ES, Choi KC, Shin HS, Chae GB

  • KMID: 2083315
  • Korean J Hepatobiliary Pancreat Surg.
  • 2009 Sep;13(3):143-151.
PURPOSE: Hepatocellular carcinoma (HCC) shows various molecular and genetic alterations in its development and progression. Recently, microsatellite instability (MSI) and the loss of heterozygosity (LOH), have been postulated as useful...
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Identification of marker chromosomes by reverse painting fluorescence in situ hybridization and comparative genomic hybridization

Kang JK, Cho YH, Kyhm JH, Shin ES, Hoh JK, Chung SR

  • KMID: 2272680
  • Korean J Obstet Gynecol.
  • 2005 Sep;48(9):2125-2139.
OBJECTIVE: Although marker chromosome is defined as an abnormal chromosome in which no part can be identified, derivative chromosomes with structural abnormalities of unknown origin are also called as marker...
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DNA Hypermethylation and the Loss of Heterozygosity of Chromosome 16q22 in Hepatocellular Carcinoma

Oh HE, Cheong JC, Joo SH, Jeon JY, Kim JS, Cho SJ, Nam ES, Shin HS

  • KMID: 1890126
  • Korean J Hepatobiliary Pancreat Surg.
  • 2005 Mar;9(1):16-22.
PURPOSE: E-cadherin gene, located on chromosome 16q22, may play crucial roles in the cell adhesion and propensity for more malignant properties of various organs. Although loss of heterozygosity (LOH) and...
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Adequate Microsatellite Markers for 1p/19q Loss of Heterozygosity of Oligodendroglial Tumors in Korean Patients

Kim SH, Kim H, Kim TS

  • KMID: 2275438
  • Korean J Pathol.
  • 2005 Feb;39(1):23-33.
BACKGROUND: It is well known that oligodendrogliomas can be divided into two groups according to the 1p/19q or 1p loss of heterozygosity (LOH) status because oligodendrogliomas with the 1p/19q LOH...
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Review of Chromosomal Analyses Performed in a Single Hospital

Kim HK, Koo NH, Hwang JS, Kim SH

  • KMID: 1655409
  • Korean J Pediatr.
  • 2004 Nov;47(11):1157-1160.
PURPOSE: Chromosomal aberration has an effect on the lives of both patients and families. Peripheral blood chromosomal analysis is useful to make a diagnosis and counsel the patient with chromosomal...
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The Role of Microsatellite Instability at Chromosome 11p15.5 in the Progression of Breast Ductal Carcinoma

Kim DJ, Park JY, Lee MH, Sohn YK

The study of microsatellite instability (MSI) has provided the evidence to support asequential, progressive pathway for the development of cancer. In this study, we analyzed the role of MSI at...
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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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Periodic Explosive Expansion of Human Retroelements Associated with the Evolution of the Hominoid Primate

Kim TM, Hong SJ, Rhyu MG

Five retroelement families, L1 and L2 (long interspersed nuclear element, LINE), Alu and MIR (short interspersed nuclear element, SINE), and LTR (long terminal repeat), comprise almost half of the human...
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Development of an Efficient Method for Obtaining Metaphase Chromosomes in Individual Blastomeres of Mouse and Human Preimplantaion Embryos: Effect of Microtubule Depolymerizing Agents

Lim CK, Min DM, Lee HS, Kim JY, Koong MK, Kang IS, Jun JH

  • KMID: 1979046
  • Korean J Fertil Steril.
  • 2003 Jun;30(2):111-118.
OBJECTIVES: The development of an useful method for obtaining metaphase chromosomes from a biopsied blastomere would allow differentiation between embryos with balanced and normal chromosome complements in the preimplantation genetic...
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Partial Trisomy 2q(2q37.3->qter)and Monosomy 7q(7q34->qter) Due to Paternal Reciprocal Translocation 2;7: A Case Report

Lee YH, Ahn JM, Koo DH, Kwon KW, Lee YK, Lee HH, Nam KH, Lee KH

We report an unbalanced translocation involving chromosome 2 and 7 due to a balanced reciprocal translocation 2;7 in the father. The female fetus had a partial trisomy of the long...
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Alterations of 9p21-22 Region Encoding Genes in Primary Glioblastomas

Doh HJ, Suh SI, Kim DW, Kim IM, Yim MB, Son EI, Kwon KY, Lee SS, Kim SP

  • KMID: 1725939
  • Korean J Pathol.
  • 2002 Dec;36(6):394-399.
BACKGROUND: Glioblastomas are one of the most common and aggressive malignant glial tumors occuring in the central nervous system. This study analyzed the status of p15INK4b, p14ARF, p16INK4a, MTAP, IFNA,...
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