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Difficult intubation caused by an immature upper airway in a patient with cri-du-chat syndrome: a case report

So E, Kim S

Cri-du-chat syndrome (CdCS) is caused by the deletion of the short arm of chromosome 5. Most patients with CdCS develop intellectual disabilities. Therefore, they have poor oral hygiene and a...
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Cri-du-chat Syndrome with Dysphagia

Hong YC, Choi EJ, Ho YH, Lee OK, Kim YS

The cri-du-chat syndrome is a chromosomal disease caused by a deletion on the short arm of chromosome 5. Clinical features are characteristic facial features and high pitched cat like cry,...
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Prenatal diagnosis of 5p deletion syndrome: A case series report

Han YJ, Kwak DW

5p deletion syndrome, also known as Cri-du-Chat syndrome, is a chromosomal abnormality caused by a deletion in the short arm of chromosome 5. Clinical features of 5p deletion syndrome are...
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Interstitial deletion of 5q33.3q35.1 in a boy with severe mental retardation

Lee JH, Kim HJ, Yoon JM, Cheon EJ, Lim JW, Ko KO, Lee GM

Constitutional interstitial deletions of the long arm of chromosome 5 (5q) are quite rare, and the corresponding phenotype is not yet clearly delineated. Severe mental retardation has been described in...
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Evaluation of prognostic factors in patients with therapy-related acute myeloid leukemia

Park SH, Chi HS, Cho YU, Jang S, Park CJ

BACKGROUND: Therapy-related AML (t-AML) occurs as a late complication of chemotherapy administered to treat a prior disorder. Prognostic factors affecting the clinical outcome in t-AML have not yet been clearly...
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Therapy-Related Myeloid Neoplasms in 39 Korean Patients: A Single Institution Experience

Huh HJ, Lee SH, Yoo KH, Sung KW, Koo HH, Kim K, Jang JH, Jung C, Kim SH, Kim HJ

BACKGROUND: Therapy-related myeloid neoplasms (t-MN) occur as late complications of cytotoxic therapy. This study reviewed clinical and cytogenetic characteristics of patients with t-MN at a single institution in Korea. METHODS: The...
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Ring Chromosome 5 in Acute Myeloid Leukemia Defined by Whole-genome Single Nucleotide Polymorphism Array

Huh J, Mun YC, Chung WS, Seong CM

Chromosomes forming a corresponding ring cannot be clearly defined by conventional cytogenetics or FISH. Karyotypic analyses using whole-genome single nucleotide polymorphism arrays (SNP-A) may result in the identification of previously...
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Sole Trisomy 22 Not Associated with inv(16) in Myelodysplastic Syndrome

Hahm C, Hwang Y, Mun YC, Seong CM, Chung WS, Huh J

Trisomy 22 is closely associated with inv(16) or t(16;16) and could be a marker of cryptic rearrangement of CBFB/MYH11 in acute myeloid leukemia (AML). Trisomy 22 not associated with CBFB/MYH11...
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A Case of Cri du Chat Syndrome with Developmental Delay Misdiagnosed as Fetal Alcohol Syndrome

No SJ, Kim DO, Lee SM, Lee JS

  • KMID: 2043931
  • J Korean Child Neurol Soc.
  • 2012 Mar;20(1):23-27.
Cri du Chat syndrome (CdCS) is a chromosomal disease resulting from a deletion on the short arm of chromosome 5. Characteristic features include high pitched cat-like cry, distinguishing facial features,...
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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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Erythroleukemia Relapsing as Precursor B-cell Lymphoblastic Leukemia

Park BG, Park CJ, Jang S, Seo EJ, Chi HS, Lee JH

AML relapsing as ALL has rarely been reported. We describe the case of a 62-yr-old man who was diagnosed with erythroleukemia with a complex karyotype and achieved complete hematologic and...
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A Novel Translocation t(1;5)(p32;q31) that Was Not Associated with the TAL1 Rearrangement in a Case of T Lymphoblastic Leukemia/Lymphoma

Cho HS, Kim MK, Bae YK

Chromosome 1 band p32 (1p32) aberrations are common in T lymphoblastic leukemia/lymphoma (T-ALL/LBL). Two types of 1p32 aberrations include translocations with different partners and submicroscopic interstitial deletion. Both aberrations are...
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New agents for the treatment of myelodysplastic syndromes

Jang JH

  • KMID: 2257321
  • Korean J Med.
  • 2009 Feb;76(2):121-125.
Myelodysplastic syndromes (MDS) are a heterogenous group of clonal stem cell disorders commonly characterized by a hypercellular and dysplastic bone marrow, cytopenias resulting from impaired peripheral blood cell production, and...
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Airway management in a patient with Treacher Collins syndrome: A case report

Kim YJ, Kang HS, Park DH, Kim HY, Jung T

Treacher Collins Syndrome (TCS) is an autosomal dominant genetic disorder which is resulted from the mutation that affect the Treacher Collins-Franceschetti syndrome 1 (TCOF1) gene on chromosome 5. The features...
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Four Cases of Hematologic Malignancy Following Radioactive Iodine Therapy for Thyroid Cancer

Im M, Lee JK, Hong YJ, Hong SI, Kang HJ, Na II, Ryoo BY, Cheon GJ, Lee HN, Chang YH

Ionizing radiation including I131 might produce chromosomal translocation, causing hematologic malignancy. The incidence of leukemia following radioactive iodine treatment for thyroid cancer has been reported to be approximately 0.1 to...
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Two cases of spinal muscular atrophy type 1 with extensive involvement of sensory nerves

Lee R, Chung S, Koh SE, Lee IK, Lee J

Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by diffuse proximal and distal weakness due to deletion of the survival motor neuron (SMN) gene localized on chromosome 5...
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High Frequency of Genetic Alterations in Non-small Cell Lung Cancer Detected by Multi-target Fluorescence In Situ Hybridization

Kang JU, Koo SH, Kwon KC, Park JW, Shin SY, Kim JM, Jung SS

Detection of genetic alterations could provide a tool as an adjuvant for the diagnosis of non-small cell lung cancer (NSCLC) and to define patients at risk for early relapse. In...
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A Case of Myelodysplastic Syndrome Associated with an Isolated del(5q) Chromosomal Abnormality Showing Poor Prognosis

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

Typical myelodysplastic syndrome (MDS) associated with isolated del(5q) consists of an interstitial deletion of the band between q13 and q33 on chromosome 5. Generally, patients with isolated deletion 5q have...
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Association between Alcoholism and the Genetic Polymorphisms of the GABA(A) Receptor Genes on Chromosome 5q33-34 in Korean Population

Park CS, Park SY, Lee CS, Sohn JW, Hahn GH, Kim BJ

Family, twin, and adoption studies have demonstrated that genes play an important role in the development of alcoholism. We investigated the association between alcoholism and the genetic polymorphisms of the...
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Microcystic Meningiomas: Its Immunohistochemical and Genetic Aspect

Koo SK, Han JY, Kim SJ, Kim KU

  • KMID: 2067218
  • J Korean Neurosurg Soc.
  • 2006 Feb;39(2):136-140.
The authors report three microcystic meningiomas with its characteristic immunohistochemical findings and chromosomal pattern. Three patients with surgically treated microcystic meningioma were studied for its radiological, histopathological findings, and chromosomal...
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