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Molecular Diagnosis and Determination of the Parental Origin of Extrachromosome 21 in Korean with Down Syndrome Using DNA Haplotyping

Lee JS, Choi WK

  • KMID: 2335256
  • J Korean Pediatr Soc.
  • 1997 Jul;40(7):917-924.
Purposes : Down syndrome, the most common single cause of mental retardation, is usually due to meiotic nondisjunction leading to trisomy 21. In order to understand the mechanisms of meiotic...
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Changes in gene expression associated with oocyte meiosis after Obox4 RNAi

Lee HS, Kim EY, Lee KA

OBJECTIVE: Previously, we found that oocyte specific homeobox (Obox) 4 plays significant role in completion of meiosis specifically at meiosis I-meiosis II (MI-MII) transition. The purpose of this study was...
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The Effects of Follicular Fluid on in Vitro Maturation of Bovine Follicular Oocytes

Chung SO, Choi YH, Kim MK, Cho WK

The present experiments were conducted to evaluate the effects of follicular fluid on maturation of bovine follicular oocytes. TC medium 199 seemed to be in adequate for this purpose since...
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Prenatal Diagnosis of Recurrent Trisomy 18 Syndrome

Han JY, Kim KH, Han MS, Je GH, Kim JP, Shaffer LG

  • KMID: 1866524
  • Korean J Lab Med.
  • 2003 Feb;23(1):67-69.
Though data on the recurrent risk after the birth of one fetus or infant with trisomy 18 is sparse, it has been presumed that the recurrence risk would be lower...
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The Recurrent Pregnancy Loss Associated with a Female Carrier of a Structural Chromosome Rearrangement

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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Nuclear localization of Obox4 is dependent on its homeobox domain

Park GT, Lee KA

OBJECTIVE: Oocyte-specific homeobox 4 (Obox4) is preferentially expressed in oocytes and plays an important role in the completion of meiosis of oocytes. However, the Obox4 expression pattern has not been...
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Function of the pentose phosphate pathway and its key enzyme, transketolase, in the regulation of the meiotic cell cycle in oocytes

Kim Y, Kim EY, Seo YM, Yoon TK, Lee WS, Lee KA

OBJECTIVE: Previously, we identified that transketolase (Tkt), an important enzyme in the pentose phosphate pathway, is highly expressed at 2 hours of spontaneous maturation in oocytes. Therefore, this study was...
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Lateral Sinus Thrombophlebitis Caused by Isolated Sphenoid Sinusitis

Kim IT, Park KY, Kim YM, Yang KH, Park YM

  • KMID: 2131678
  • J Rhinol.
  • 1997 May;4(1):68-70.
Lateral sinus thrombophlebitis is a very rare complication of paranasal sinusitis. This disease can result in a fatal outcome if not treated with proper antibiotics or surgical intervention. Recently, the...
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Primary rectal mature teratoma: a case report

Lee YM, Han JH, Lee HC

  • KMID: 1703520
  • J Biomed Res.
  • 2013 Dec;14(4):249-252.
This report describes a rare case of primary rectal mature teratoma in a 56-year-old woman. She was referred to the outpatient clinic with a large pedunculated rectal mass, which was...
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Expression of Heat Shock Protein HspA2 in Human Tissues

Son WY, Hwang SH, Han CT, Lee JH, Choi YJ, Kim S, Kim YC

  • KMID: 2235734
  • Korean J Fertil Steril.
  • 1999 Aug;26(2):225-230.
In mouse, the heat shock protein 70-2 (hsp70-2) is found to have special function in spermatogenesis. Based on the observation, the hypothesis that human hspA2 (human gene; 98.2% amino acid...
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Molecular Genetics of Emericella nidulans Sexual Development

Han KH

Many aspergilli that belongs to ascomycetes have sexuality. In a homothallic or self-fertile fungus, a number of fruiting bodies or cleistothecia are formed in a thallus grown from a single...
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A case report of prenatally diagnosed tetrasomy 18p

Jung PS, Won HS, Cho IJ, Hyun MK, Shim JY, Lee PR, Kim A

  • KMID: 2313947
  • Obstet Gynecol Sci.
  • 2013 May;56(3):190-193.
Tetrasomy 18p, one of the most commonly observed isochromosomes, consists of two copies of the p arms on chromosome 18[i(18p)]. It is known as a de novo occurrence of non-disjunction...
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Effects of sperm insemination on the final meiotic maturation of mouse oocytes arrested at metaphase I after in vitro maturation

Yoon J, Juhn KM, Yoon SH, Ko Y, Lim JH

OBJECTIVE: The aims of this study were to investigate whether fertilization could induce the resumption of meiosis in mouse oocytes arrested at metaphase I (MI) after in vitro maturation (IVM),...
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Endocrine problems in children with Prader-Willi syndrome: special review on associated genetic aspects and early growth hormone treatment

Jin DK

Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder characterized by hypothalamic-pituitary dysfunction. The main clinical features include neonatal hypotonia, distinctive facial features, overall developmental delay, and poor growth in...
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Genetic Studies of Psychiatric Disorders: The Basic Concepts and Methods of Quantitative Genetics

Joo EJ, Kim YS

  • KMID: 2340432
  • J Korean Neuropsychiatr Assoc.
  • 2000 Mar;39(2):257-272.
Quantitative medical genetics including genetic epidemiological studies, linkage studies, and association studies are the basis for molecular genetic studies to find the susceptible genes or responsible mutations for psychiatric disorders....
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Repression of HspA2 mRNA Expression in Human Testes with Abnormal Spermatogenesis

Son WY, Hwang SH, Han CT, Lee JH, Kim SJ, Kim YC

  • KMID: 2085123
  • Korean J Fertil Steril.
  • 1999 Apr;26(1):103-109.
OBJECTIVE: Heat shock protein 70-2 (Hsp70-2) gene knockout mice are found to have premeiotic arrest at the primary spermatocyte stage with a complete absence of spermatids and spermatozoa. This observation...
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Characterization and Functional Analysis of Obox4 during Oocyte Maturation by RNA Interference

Lee HS, Lee KA

  • KMID: 2288251
  • Korean J Reprod Med.
  • 2007 Dec;34(4):293-303.
OBJECTIVE: Previously, we identified differentially expressed genes between GV and MII stage mouse oocytes using ACP technology.1 When we study one of GV selective genes, Obox family, we found Obox4...
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Expression of Testis Specific Genes of Male Germ Cells in Pre-pubertal Mouse using in vitro Culture System

Lee HJ, Kim MK, Ko DS, Kang HG, Kim DH

  • KMID: 1859347
  • Korean J Androl.
  • 2000 Apr;18(1):33-40.
PURPOSE: To establish cultures of premeiotic mouse spermatogenic cells that could allow study of the meiotic process in vitro and to investigate expression of sperm-specific genes in premeiotic and postmeiotic...
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Monocentric Derivative Y Chromosome with Duplication of the SRY Gene in an Azoospermic Male

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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Population Genetics of the Hypervariable Locus D12S391 in Korean

Lee YW, Kang IH, Kim SM, Lee HL, Koo TW, Lee HS, Han GR

  • KMID: 1928187
  • Korean J Leg Med.
  • 1999 May;23(1):63-71.
The hypervariable short tandem repeat (STR) locus D12S391 was investigated in a Korean population. A total of 14 alleles were detected by size under denaturing conditions in 517 unrelated individuals....
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