- Deletion of Rb1 gene in late osteosarcoma from survivor of unilateral retinoblastoma: a case report
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Lee SY, Jeon DG, Lee JS, Hwang CS, Huh K, Lee TW, Hong SI
- KMID: 932138
- J Korean Med Sci.
- 1996 Feb;11(1):94-98.
- doi: 10.3346/jkms.1996.11.1.94
It has been well known that the survivors of retinoblastoma are prone to have osteosarcoma. But the secondary tumor usually occurs in bilateral, hereditary type of retinoblastoma. We report one... -
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- Homozygous Exon 4 Deletion in Parkin Gene in a Korean Family with Autosomal Recessive Early Onset Parkinsonism
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Kim JS, Lee KS, Kim YI, Lee KH, Kim HT
- KMID: 1779486
- Yonsei Med J.
- 2003 Apr;44(2):336-339.
- doi: 10.3349/ymj.2003.44.2.336
The gene responsible for autosomal recessive parkinsonism, parkin, has recently been identified on chromosome 6q. It has been shown to be mutated in Japanese and European families, most of whom... -
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- Submicroscopic Deletions of Immunoglobulin Heavy Chain Gene (IGH) in Precursor B Lymphoblastic Leukemia with IGH Rearrangements
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Huh J, Mun YC, Yoo ES, Seong CM, Chung WS
- KMID: 2363160
- Ann Lab Med.
- 2015 Jan;35(1):128-131.
- doi: 10.3343/alm.2015.35.1.128
Translocations leading to fusions between the immunoglobulin heavy chain gene (IGH) and various partner genes have been reported in B-cell precursor acute lymphoblastic leukemia (B-ALL). However, submicroscopic deletions within IGH... -
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- Detection of alpha-thalassemia-1 Southeast Asian and Thai Type Deletions and beta-thalassemia 3.5-kb Deletion by Single-tube Multiplex Real-time PCR with SYBR Green1 and High-resolution Melting Analysis
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Pornprasert S, Wiengkum T, Srithep S, Chainoi I, Singboottra P, Wongwiwatthananukit S
- KMID: 1735843
- Korean J Lab Med.
- 2011 Jul;31(3):138-142.
- doi: 10.3343/kjlm.2011.31.3.138
BACKGROUND: Prevention and control of thalassemia requires simple, rapid, and accurate screening tests for carrier couples who are at risk of conceiving fetuses with severe thalassemia. METHODS: Single-tube multiplex real-time PCR... -
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- Is Classification of Gastric Cancer According to Distinct Therapeutic Targets Applicable in Clinical Practice?
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Kim KM
- KMID: 1775754
- Korean J Gastroenterol.
- 2013 Aug;62(2):140-141.
- doi: 10.4166/kjg.2013.62.2.140
No abstract available. -
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- Loss of retinoblastoma gene and amplification of N-myc gene in retinoblastoma
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Choi SW, Lee TW, Yang SW, Hong WS, Kim CM, Lee JO
- KMID: 1421955
- J Korean Med Sci.
- 1993 Feb;8(1):73-77.
- doi: 10.3346/jkms.1993.8.1.73
We have analyzed paired samples of genomic DNA from peripheral leukocyte and primary tumor tissue from nine patients with retinoblastoma (RB) and from two RB cell lines, WERI-Rb-1 and Y79,... -
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- Loss of heterozygosity on chromosome 10, 13q(Rb), 17p, and p53 gene mutations in human brain gliomas
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Lee SH, Kim JH, Rhee CH, Kang YS, Lee JH, Hong SI, Choi KS
- KMID: 927177
- J Korean Med Sci.
- 1995 Dec;10(6):442-448.
- doi: 10.3346/jkms.1995.10.6.442
Using the methods of restriction fragment length polymorphism (RFLP) and single strand conformation polymorphism (SSCP) analyses, we have examined 33 cases of human gliomas with various malignant grades to detect... -
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- A Case of del(13)(q22) with Multiple Major Congenital Anomalies, Imperforate Anus and Penoscrotal Transposition
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Chung JL, Choi JR, Park MS, Choi SH
- KMID: 1728880
- Yonsei Med J.
- 2001 Oct;42(5):558-562.
- doi: 10.3349/ymj.2001.42.5.558
"13q-"syndrome is known to have widely variable manifestations, including retinoblastoma, mental and growth retardation, malformation of brain and heart, anal atresia, and anomalies of the face and limbs. Here we... -
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- Simultaneous deletion of floxed genes mediated by CaMKIIalpha-Cre in the brain and in male germ cells: application to conditional and conventional disruption of Goalpha
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Choi CI, Yoon SP, Choi JM, Kim SS, Lee YD, Birnbaumer L, Suh-Kim H
- KMID: 2155358
- Exp Mol Med.
- 2014 May;46(5):e93.
- doi: 10.1038/emm.2014.14
The Cre/LoxP system is a well-established approach to spatially and temporally control genetic inactivation. The calcium/calmodulin-dependent protein kinase II alpha subunit (CaMKIIalpha) promoter limits expression to specific regions of the... -
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- A Case of 46,XY Pure Gonadal Dysgenesis with Loss of the Sex-Determining Region of Y Chromosome
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Yoon KH, Lee YJ
- KMID: 854850
- Korean J Lab Med.
- 2008 Apr;28(2):151-154.
- doi: 10.3343/kjlm.2008.28.2.151
A 23-yr-old phenotypic female was seen for primary amenorrhea. Her pubic hair was relatively well developed and external genitalia showed normal female appearance, but breast development was retarded. Transvaginal ultrasonographic... -
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- Concurrence of Ring 21 and Trisomy 21 in Children of Normal Parents
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Cho YG, Park TW, Lee CS, Choi SI
- KMID: 1734056
- Yonsei Med J.
- 2005 Apr;46(2):284-288.
- doi: 10.3349/ymj.2005.46.2.284
We present a case of two siblings with different chromosome 21 abnormalities that are both de novo [r (21) /i (21p13) mosaicism and rob (14; 21) ]. Molecular studies using... -
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