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12 results

A Case with Transient Hyperammonemia of Newborn

Lee HK, Lee BH, Jin HY, Kim GH, Choi JH, Yoo HW

  • J Genet Med.
  • 2010 Jun;7(1):87-90.
Hyperammonemia in the newborn often leads to severe fatal illness associated with hyperammonemic encephalopathy. Transient hyperammonemia in newborns (THAN) is characterized by self-limiting, transient hyperammonemia during the neonatal period. THAN...
Rarely Observed Jumping Translocation in Spontaneous Abortion

Lee YW, Lee BY, Park JY, Choi EY, Oh AR, Lee SY, Ryu HM, Kang IS, Yang KM, Park SY

  • J Genet Med.
  • 2010 Jun;7(1):82-86.
Jumping translocations (JT) are chromosomal rearrangements involving one donor chromosome and several recipient chromosomes. While JTs are frequently observed as acquired chromosomal abnormalities in hematologic malignancies, constitutional JTs are only...
Repetitive Pregnancy Loss in inv(22)(p13q12) Carrier

Kim DH, Ha JS, Rhee JH

  • J Genet Med.
  • 2010 Jun;7(1):78-81.
Pericentric inversion is not rare in humans and is usually benign. However, pericentric inversion can lead to production of an unbalanced recombinant and might be a cause of repetitive pregnancy...
Evaluation of Psychosocial Impact and Quality of Life in BRCA Mutation Family

Han SA, Kim S, Kang E, Ha TH, Kim JH, Yang EJ, Lim JY, Han W, Noh DY, Kim SW

  • J Genet Med.
  • 2010 Jun;7(1):67-77.
PURPOSE: The aims of this study are to evaluate psychological impact and quality of life according to the cancer diagnosis and mutation status in Korean families with BRCA mutations. MATERIALS AND...
Validation of QF-PCR for Rapid Prenatal Diagnosis of Common Chromosomal Aneuploidies in Korea

Han SH, Ryu JS, An JW, Park OK, Yoon HR, Yang YH, Lee KR

  • J Genet Med.
  • 2010 Jun;7(1):59-66.
PURPOSE: Quantitative fluorescent polymerase chain reaction (QF-PCR) allows for the rapid prenatal diagnosis of common aneuploidies. The main advantages of this assay are its low cost, speed, and automation, allowing...
Effective Method for Extraction of Cell-Free DNA from Maternal Plasma for Non-Invasive First-Trimester Fetal Gender Determination: A Preliminary Study

Lim JH, Park SY, Kim SY, Kim DJ, Kim MJ, Yang JH, Kim MY, Kim MH, Han HW, Choi KH, Ryu HM

  • J Genet Med.
  • 2010 Jun;7(1):53-58.
PURPOSE: To find the most effective method for extraction of cell-free DNA (cf-DNA) from maternal plasma, we compared a blood DNA extraction system (blood kit) and a viral DNA extraction...
Cognitive Profile of Children with Williams Syndrome: Comparison with Children with Prader-Willi Syndrome and Down Syndrome

Yim SY, Cho KH, Kim HJ

  • J Genet Med.
  • 2010 Jun;7(1):45-52.
PURPOSE: The objectives were to examine following 2 questions related to cognitive profile for the children with Williams syndrome (WS); 1) Is there a significant advantage for verbal IQ over...
Phenotypic and Cytogenetic Delineation of Six Korean Children with Kabuki Syndrome

Ko JM, Hwang JM, Kim HJ

  • J Genet Med.
  • 2010 Jun;7(1):37-44.
PURPOSE: Kabuki syndrome is a multiple congenital malformation syndrome with mental retardation. It was named after its characteristic appearance, a face resembling that of an actor in a Kabuki play....
Hereditary Colorectal Cancer

Kim DW

  • J Genet Med.
  • 2010 Jun;7(1):24-36.
Colorectal cancer is one of the most steeply increasing malignancies in Korea. Among 398,824 new patients recorded by the Korea Central Cancer Registry between 2003 and 2005, 47,915 cases involved...
Molecular Genetic Diagnosis of Genetic Endocrine Diseases

Choi JH, Kim GH, Yoo HW

  • J Genet Med.
  • 2010 Jun;7(1):16-23.
Many endocrine disorders have a genetic component. The genetic component is the major etiologic factor in monogenic disorders, while multiple genes in conjunction with environmental and lifestyle factors contribute to...
Genetic Variations of Congenital Hypothyroidism

Lee YW, Lee DH

  • J Genet Med.
  • 2010 Jun;7(1):9-15.
Congenital hypothyroidism (CH) is detected at a rate of 1 in 3,000 to 4,000 live births, making it the most common congenital endocrine disorder worldwide. CH is most commonly caused...
Genetic Risk Factors of Hemophilia A

Shim YJ, Lee KS

  • J Genet Med.
  • 2010 Jun;7(1):1-8.
Hemophilia A is a sex-linked recessive coagulation disorder associated with diverse mutations of the factor VIII gene and a variety of phenotypes. The type of mutation involved dictates the activity...

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