- Phylogenetically interrelated ETS genes, ETV1, ERM and E1A-F locate on different chromosomes
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Jeon IS, Shapiro DN
- KMID: 1038161
- J Korean Med Sci.
- 1998 Aug;13(4):355-360.
- doi: 10.3346/jkms.1998.13.4.355
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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- Episodic Ataxia Type 2 with Downbeating Nystagmus Caused by Mutation in the CACNA1A: A Case Report
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Yun S, Chang YJ, Jung SC, Kwon JW, Lee GH, Lee CM, Song YM, Kim JI
- KMID: 1626918
- J Korean Neurol Assoc.
- 2005 Jun;23(3):399-401.
Episodic ataxia type 2 (EA 2) is a rare disorder characterized by intermittent episodes of ataxia with interictal nystagmus. The authors report a patient with EA 2, who presented with... -
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- Ataxia-Telangiectasia with Novel Splicing Mutations in the ATM Gene
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Jeong H, Huh HJ, Youn J, Kim JS, Cho JW, Ki CS
- KMID: 1781368
- Ann Lab Med.
- 2014 Jan;34(1):80-84.
- doi: 10.3343/alm.2014.34.1.80
No abstract available. -
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- Unbalanced Translocations of Chromosome 2 and Chromosome 20 in a Two-Generation Family
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Min SA, Lim SW, Kim YS, Lee OK
- KMID: 2335660
- J Korean Pediatr Soc.
- 2002 Jul;45(7):917-922.
An unbalanced translocation is frequently the result of inheritance of an unbalanced haploid set from a parent with a balanced translocation. Families in which one parent is a balanced translocation... -
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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
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Lee YH, Ahn JM, Koo DH, Kwon KW, Lee YK, Lee HH, Nam KH, Lee KH
- KMID: 1099804
- J Korean Med Sci.
- 2003 Feb;18(1):112-113.
- doi: 10.3346/jkms.2003.18.1.112
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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- Patient With Delayed Development Resulting From De Novo Duplication of 7q36.1-q36.3 and Deletion of 9p24.3
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Choi A, Oh JY, Kim M, Jang W, Jang DH
- KMID: 2440817
- Ann Rehabil Med.
- 2017 Oct;41(5):881-886.
- doi: 10.5535/arm.2017.41.5.881
Patients with a duplication from 7q36 to the terminus or a deletion of 9p24 have been reported, whereas those harboring both mutations have not. Here, we report a patient with... -
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- Prenatal diagnosis of trisomy 7 mosaicism with omphalocele in the first trimester of pregnancy
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Ko MK, Cho IA, Lee JI, Park JK, Shin JK, Choi WJ, Lee SA, Lee JH, Paik WY
- KMID: 2393149
- Korean J Obstet Gynecol.
- 2012 Oct;55(10):751-755.
The trisomy 7 is rare autosomal aneuploidy worldwide, which accounts for 4%-10% of all trisomies, and most of the cases are mosaicism. The partial trisomy 7 mosaicism demonstrates facial deformities,... -
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- Cytogenetic Results from 620 Cases of Peripheral Blood Specimen; Special Emphasis on Single Cell Pseudomosaicism
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Lee SR, Shin MK, Baik CS, Lee KH, Cho YS
- KMID: 2287755
- J Clin Pathol Qual Control.
- 1999 Dec;21(2):389-397.
BACKGROUND: Pseudomosaicism resulting from cultural artifact or mitotic error has been well studied in amniocyte culture or chorionic villus sampling (CVS). But the frequencies and patterns of pseudomosaicism in peripheral... -
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- Erythroleukemia Relapsing as Precursor B-cell Lymphoblastic Leukemia
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Park BG, Park CJ, Jang S, Seo EJ, Chi HS, Lee JH
- KMID: 1094344
- Korean J Lab Med.
- 2011 Apr;31(2):81-85.
- doi: 10.3343/kjlm.2011.31.2.81
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 Case of 3p Partial Trisomy
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Park JE, Kim IS, Song MY, Kim ER, Moon SY, Oh SK
- KMID: 2208244
- J Korean Pediatr Soc.
- 1996 Jun;39(6):873-879.
3p partial trisomy is a rare chromosomal anomaly. We experienced a case of 3p partial trisomy in a male neonate. It was diagnosed by clinical and chromosoaml study. He had... -
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- A Case of Bilateral Split Hand and Foot Malformation with Inversion of Chromosome 7
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Kwon YS, Han SB, Jun YH, Son BK
- KMID: 1566098
- J Korean Soc Neonatol.
- 1998 Nov;5(2):187-192.
Split hand and split foot(SHSF) is a human developmental defect characterized by missing digits, fusion of remaining digits, and a deep median cleft resulting in a clawlike appearance of the... -
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- Detection of microdeletion of elastin gene in patients with Williams syndrome and their family by fluorescent in situ hybridization and evaluation of clinical manifestations
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Kim HS
- KMID: 2227379
- Korean Circ J.
- 2000 Apr;30(4):507-516.
- doi: 10.4070/kcj.2000.30.4.507
BACKGROUND: Williams syndrome is characterized by supravalvular aortic stenosis, mental retardation and peculiar facial appearance. Its genetic etiology is considered to be hemizygotic deletion in Chromosome 7q11.23 which includes the... -
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- A Case of 7q-Syndrome
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Yoon KN, Oh JH, Kim JH, Lee SJ, Koh DK
- KMID: 1566096
- J Korean Soc Neonatol.
- 1998 Nov;5(2):182-186.
Interstitial deletion of the long arm of the chromosome 7 is a well-defined syndrome which usually arises de novo. But there were few case reports in Korea. A male premature... -
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- A Case of Multicystic Renal Dysplasia with Chromosomal Abnormality
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Lee MJ, Jung SI, Na JH, Kim JH, Jung JJ
- KMID: 1553266
- Korean J Perinatol.
- 1999 Mar;10(1):56-60.
Holoprosencephaly is a rare and complex malformation affecting the cleavage of the developing forebrain and is usually associated with defects of the mid Face. We have experienced a case of... -
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- Genetic Alterations in Bladder Cancer Detected by Comparative Genomic Hybridization
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Koo SH, Ihm CH, Jeon YM, Park JW, Sul JK
- KMID: 2175235
- J Korean Cancer Assoc.
- 1999 Apr;31(2):377-385.
PURPOSE: Cytogenetic and genetic alterations of tumors are closely related with progressian and promotion of cancers. Comparative genomic hybridization (CGH) has known to be a novel tool for the detection... -
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- A Case of Holoprosencephaly Associated with Chromosomal Deletion Diagnosed by Prenatal Ultreasound
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Sim JC, Bae CS, Yoon HW, Kim DH, Yang HS, Park TH, Kim JH, Choi SC
- KMID: 2071979
- Korean J Perinatol.
- 1998 Dec;9(4):434-439.
Holoprosencephaly is a rare and complex malformation affecting the cleavage of the developing forebrain and is usually associated with defects of the mid Face. We have experienced a case of... -
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- Therapy-Related Myeloid Neoplasms in 39 Korean Patients: A Single Institution Experience
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Huh HJ, Lee SH, Yoo KH, Sung KW, Koo HH, Kim K, Jang JH, Jung C, Kim SH, Kim HJ
- KMID: 1781307
- Ann Lab Med.
- 2013 Mar;33(2):97-104.
- doi: 10.3343/alm.2013.33.2.97
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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- A Case with Coexistence of Major and Minor BCR/ABL Fusion Transcript at Lymphoblastic Crisis of Chronic Myelogenous Leukemia in Patients with Major BCR/ABL Positivity during Chronic Phase
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Park SH, Chi HS, Cho YU, Jang S, Park CJ, Im HJ
- KMID: 1781303
- Ann Lab Med.
- 2013 Jan;33(1):80-83.
- doi: 10.3343/alm.2013.33.1.80
No abstract available. -
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- A case of cystic fibrosis presented with meconium ileus in a female neonate
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Hwang IO, Lee ES
- KMID: 2279459
- Korean J Pediatr.
- 2007 Dec;50(12):1252-1256.
- doi: 10.3345/kjp.2007.50.12.1252
Meconium ileus (MI) is the earliest clinical manifestation of cystic fibrosis (CF) in infants. It arises from the intraluminal accumulation of highly viscid, protein-rich meconium, typically present in the terminal... -
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- Microdeletion of Chromosome 7 in Williams Syndrome and Supravalvular Aortic Stenosis
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Kim HS, Kang YS, Noh CI, Choi JY, Yun YS, Lee KH
- KMID: 1946323
- J Korean Pediatr Soc.
- 1999 Jan;42(1):47-59.
PURPOSE: Williams syndrome is characterized by supravalvular aortic stenosis, mental retardation and peculiar facial appearance. Its genetic etiology is considered to be a hemizygotic deletion in Chromosome 7q11.23, which includes... -
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