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Prenatal Diagnosis of a Satellited Chromosome 8p Results from a de novo Cryptic Translocation between Chromosomes 8 and 22

Oh AR, Lee BY, Choi EY, Ryu HM, Lee SJ, Jung JY, Park SY

  • KMID: 2184491
  • J Genet Med.
  • 2011 Dec;8(2):135-138.
The authors of the present study report the prenatal detection of a chromosomal abnormality with additional satellites on the distal short arm of chromosome 8. A 35-year-old woman was referred...
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Two Children with Saethre-Chotzen Syndrome Confirmed by the TWIST1 Gene Analysis

Ko JM, Yang JA, Jeong SY, Yoon SH

  • KMID: 2184490
  • J Genet Med.
  • 2011 Dec;8(2):130-134.
Saethre-Chotzen syndrome is an autosomal dominant craniosynostosis syndrome, usually involving unior bilateral coronal synostosis and mild limb deformities, and is induced by loss-of-function mutations of the TWIST1 gene. Other clinical...
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A Case of Stickler Syndrome Type I Caused by a Novel Variant of COL2A1 Gene

Lee J, Jung CW, Kim GH, Lee BH, Choi JH, Yoo HW

  • KMID: 2184489
  • J Genet Med.
  • 2011 Dec;8(2):125-129.
Stickler syndrome is a very rare connective tissue disorder. The authors of the present study describe an 11-month-old girl with high myopia, retinal abnormalities, flat nose, cleft palate, retrognathia, micrognathia,...
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Molecular Cytogenetic Characterization of Supernumerary Marker Chromosomes by Chromosomal Microarray

Bae MH, Yoo HW, Lee JO, Hong M, Seo EJ

  • KMID: 2184488
  • J Genet Med.
  • 2011 Dec;8(2):119-124.
PURPOSE: Supernumerary marker chromosome (SMC) could be associated with various phenotypic abnormalities based on the chromosomal origin of SMCs. The present study aimed to determine the genomic contents of SMCs...
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Genetic Polymorphism in Corticotropin-releasing Hormone Receptor Type-1 in Preeclamptic Korean Women

Lim JH, Kim SY, Park SY, Kim DJ, Kim MJ, Ahn HK, Han JY, Kim MY, Park HY, Lee KS, Kim YJ, Ryu HM

  • KMID: 2184487
  • J Genet Med.
  • 2011 Dec;8(2):113-118.
PURPOSE: Placental corticotropin-releasing hormone receptor type 1 (CRHR1) expression is reduced in pregnancies with abnormal placental function such as preeclampsia (PE), and the levels and/or function of CRHR1 are genetically...
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Communication with Family Members about Positive BRCA1/2 Genetic Test Results in Korean Hereditary Breast Cancer Families

Kang E, Park SK, Kim KS, Choi DH, Nam SJ, Paik NS, Lee JW, Lee MH, Kim SW, Korean Breast Cancer Society

  • KMID: 2184486
  • J Genet Med.
  • 2011 Dec;8(2):105-112.
PURPOSE: Sharing genetic information with family members is important for cancer awareness and prevention. The purpose of this study is to examine disclosure patterns of positive BRCA genetic test results...
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Prenatal Genetic Test

Han YJ, Ryu HM

  • KMID: 2184485
  • J Genet Med.
  • 2011 Dec;8(2):100-104.
Genetic testing has been generalized for the diagnosis of diseases and is an important method of research with advances in the life sciences. In particular, we should give better attention...
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Genetic Counseling in Korean Health Care System

Kim HJ

  • KMID: 2184484
  • J Genet Med.
  • 2011 Dec;8(2):89-99.
Over the years Korean health care system has improved in delivery of quality care to the general population for many areas of the health problems. The system is now being...
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