- Monocentric Derivative Y Chromosome with Duplication of the SRY Gene in an Azoospermic Male
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Choi EY, Lee BY, Park JY, Lee YW, Oh AR, Lee SY, Kim SY, Han YJ, Lee MB, Ryu HM, Seo JT, Park SY
- KMID: 2184483
- J Genet Med.
- 2010 Dec;7(2):160-164.
Structural abnormalities of the Y chromosome affect normal testicular differentiation and spermatogenesis. The present case showed a rare monocentric derivative Y chromosome with partial duplication of Yp including the SRY... -
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- The Recurrent Pregnancy Loss Associated with a Female Carrier of a Structural Chromosome Rearrangement
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Lee S, Go S, Jo S, Park S, Moon S, Lee D, Kim KC, Hwang D
- KMID: 2184482
- J Genet Med.
- 2010 Dec;7(2):156-159.
Inversion, one of the balanced rearrangements, usually does not lead to phenotypic abnormalities; all genetic information exists in the proper amount, merely in a different order or in an abnormal... -
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- A Case of Apert Syndrome with a P253R Mutation on FGFR2 Exon VIII
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Lee YJ, Ko JM, Park SS, Cheon CK
- KMID: 2184481
- J Genet Med.
- 2010 Dec;7(2):151-155.
Apert syndrome is a rare congenital anomaly characterized by craniofacial malformations and severe symmetrical syndactyly of fingers and toes. This syndrome is caused by a genetic mutation; the S253 mutation... -
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- Acrodysostosis Associated with Symptomatic Cervical Spine Stenosis
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Ko JM, Kwack KS, Kim SH, Kim HJ
- KMID: 2184480
- J Genet Med.
- 2010 Dec;7(2):145-150.
Acrodysostosis is an extremely rare disorder characterized by short fingers and toes with peripheral dysostosis, nasal hypoplasia, and mental retardation. We report a 16-year-old Korean boy with acrodysostosis who had... -
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- Reduced Number of Endothelial Progenitor Colony-Forming Units in Patients with Preeclampsia
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Kim SY, Park SY, Kim JW, Lee MB, Han YJ, Ahn HK, Choi JS, Han JY, Kim MY, Choi KH, Ryu HM
- KMID: 2184479
- J Genet Med.
- 2010 Dec;7(2):138-144.
PURPOSE: Endothelial progenitor cells (EPCs), which mediates neovascularization of uterine endometrium may be involved in the neovascularization in the utero-placental circulation. Low numbers of endothelial progenitor colony-forming unit (CFU) in... -
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- Genetic Diagnosis of Beckwith Wiedemann Syndrome using Methylation Specific PCR-RFLP Method
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Kim GH, Lee JJ, Choi SH, Lee JY, Lee BH, Yoo HW
- KMID: 2184478
- J Genet Med.
- 2010 Dec;7(2):133-137.
PURPOSE: Beckwith-Wiedemann syndrome (BWS) is an overgrowth malformation syndrome caused by a methylation abnormality at chromosome 11p15, consisting of two imprinting centers, BWSIC1 (IGF2, H19) and BWSIC2 (LIT1, KvDMR). This... -
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- A Study of Guidelines for Genetic Counseling in Preimplantation Genetic Diagnosis (PGD)
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Kim MJ, Lee HS, Kang IS, Jeong SY, Kim HJ
- KMID: 2184477
- J Genet Med.
- 2010 Dec;7(2):125-132.
PURPOSE: Preimplantation genetic diagnosis (PGD), also known as embryo screening, is a pre-pregnancy technique used to identify genetic defects in embryos created through in vitro fertilization. PGD is considered a... -
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- Exome Sequencing in Mendelian Disorders
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Lee JK
- KMID: 2184476
- J Genet Med.
- 2010 Dec;7(2):119-124.
More than 7,000 rare Mendelian diseases have been reported, but less than half of all rare monogenic disorders has been discovered. In addition, the majority of mutations that are known... -
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- Clinical Applications of Chromosomal Microarray Analysis
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Seo EJ
- KMID: 2184475
- J Genet Med.
- 2010 Dec;7(2):111-118.
Chromosomal microarray analysis (CMA) enables the genome-wide detection of submicroscopic chromosomal imbalances with greater precision and accuracy. In most other countries, CMA is now a commonly used clinical diagnostic test,... -
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