- Molecular Genetic Diagnosis of Genetic Endocrine Diseases
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Choi JH, Kim GH, Yoo HW
- KMID: 2135608
- 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... -
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- Genetic Risk Factors of Hemophilia A
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Shim YJ, Lee KS
- KMID: 2135606
- 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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- Hereditary Colorectal Cancer
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Kim DW
- KMID: 2135609
- 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... -
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- Genetic Variations of Congenital Hypothyroidism
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Lee YW, Lee DH
- KMID: 2135607
- 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... -
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- Phenotypic and Cytogenetic Delineation of Six Korean Children with Kabuki Syndrome
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Ko JM, Hwang JM, Kim HJ
- KMID: 2135610
- 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.... -
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- Evaluation of Psychosocial Impact and Quality of Life in BRCA Mutation Family
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Han SA, Kim S, Kang E, Ha TH, Kim JH, Yang EJ, Lim JY, Han W, Noh DY, Kim SW
- KMID: 2135614
- 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... -
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- A Case with Transient Hyperammonemia of Newborn
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Lee HK, Lee BH, Jin HY, Kim GH, Choi JH, Yoo HW
- KMID: 2135617
- 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... -
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- Repetitive Pregnancy Loss in inv(22)(p13q12) Carrier
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Kim DH, Ha JS, Rhee JH
- KMID: 2135615
- 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... -
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- Cognitive Profile of Children with Williams Syndrome: Comparison with Children with Prader-Willi Syndrome and Down Syndrome
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Yim SY, Cho KH, Kim HJ
- KMID: 2135611
- 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... -
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- Rarely Observed Jumping Translocation in Spontaneous Abortion
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Lee YW, Lee BY, Park JY, Choi EY, Oh AR, Lee SY, Ryu HM, Kang IS, Yang KM, Park SY
- KMID: 2135616
- 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... -
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- Effective Method for Extraction of Cell-Free DNA from Maternal Plasma for Non-Invasive First-Trimester Fetal Gender Determination: A Preliminary Study
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Lim JH, Park SY, Kim SY, Kim DJ, Kim MJ, Yang JH, Kim MY, Kim MH, Han HW, Choi KH, Ryu HM
- KMID: 2135612
- 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... -
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- Validation of QF-PCR for Rapid Prenatal Diagnosis of Common Chromosomal Aneuploidies in Korea
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Han SH, Ryu JS, An JW, Park OK, Yoon HR, Yang YH, Lee KR
- KMID: 2135613
- 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... -
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