- 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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- 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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- 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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- 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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- A Case of Partial Inverted Duplication of Chromosome 7q
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Kim HJ, Lee SY, Kim MY, Baek CS, Kim WD, Lee DS, Kim DK, Choi SM
- KMID: 2335734
- J Korean Pediatr Soc.
- 2003 May;46(5):510-513.
Duplication of chromosome 7q has been reported as either partial or complete. Partial 7q duplication was first described by Carpentier in 1972. Pure partial duplication of the long arm of... -
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- Clinical Characteristics of Williams Syndrome
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Shin CH, Kim HS, Yang SW, Choi JY
- KMID: 2335531
- J Korean Pediatr Soc.
- 2001 Apr;44(4):443-449.
PURPOSE: Williams syndrome(WS) is an autosomal dominant disorder resulting from a submicroscopic deletion of contiguous genes on the long arm of chromosome 7. We evaluated the physical, neurodevelopmental, and behavioral... -
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- Minimally Differentiated Acute Myeloid Leukemia (AML-M0) in Children: Clinico-biological Characteristics of 4 Cases
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Kim SY, Kook H, Yang SJ, Cho D, Kim HJ, Choi IS, Ryang DW, Hwang TJ
- KMID: 2140611
- Korean J Pediatr Hematol Oncol.
- 2002 Apr;9(1):30-37.
PURPOSE: AML M0, a newly defined entity of AML, is a rare subtype with dismal outcome. We investigated the clinico-biologic characteristics of 4 AML M0 cases in childhood. METHODS:... -
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- Relationship Between Cytogenetic Complexity and Peritumoral Edema in High-Grade Astrocytoma
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Jeong KH, Song YJ, Han JY, Kim KU
- KMID: 2373597
- Ann Lab Med.
- 2016 Nov;36(6):583-589.
- doi: 10.3343/alm.2016.36.6.583
BACKGROUND: The purpose of the study is to reveal the association of cytogenetic compltyexi and peritumoral edema volume (PTEV) and its prognostic significance in high-grade astrocytoma patients by culturing patient... -
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