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Single Nucleotide Polymorphisms Associated with Alcohol-Induced Flushing Syndrome in Korean Population

Lee JH, Seo HJ, Cho S, Kim MY, Lee SD

Alcohol-induced flushing syndrome is one of the alcohol hypersensitivity reactions commonly found among Asian population. This study was designed to find markers that can predict this particular propensity among Korean...
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Trisomy 12p Syndrome Secondary to a Balanced Maternal Translocation [46,XX, t(12;22)(p11.2;p13)]

Gang MH, Lee YW, Lim HH, Chang MY

Trisomy 12p is a rare chromosomal anomaly. It causes dysmorphic features, multiple congenital anomalies, neonatal complications, and mental retardation. We present a case of complete and pure trisomy 12p syndrome...
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A Case of Chronic Myeloid Leukemia With Rare Variant ETV6/ABL1 Rearrangement

Choi SI, Jang MA, Jeong WJ, Jeon BR, Lee YW, Shin HB, Hong DS, Lee YK

No abstract available.
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Using Array-Based Comparative Genomic Hybridization to Diagnose Pallister-Killian Syndrome

Lee MN, Lee J, Yu HJ, Lee J, Kim SH

Pallister-Killian syndrome (PKS) is a rare multisystem disorder characterized by isochromosome 12p and tissue-limited mosaic tetrasomy 12p. In this study, we diagnosed three pediatric patients who were suspicious of having...
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t(12;17)(p13;q12)/TAF15-ZNF384 Rearrangement in Acute Lymphoblastic Leukemia

Kim J, Kim HS, Shin S, Lee ST, Choi JR

No abstract available.
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Pathway Analysis of Metabolic Syndrome Using a Genome-Wide Association Study of Korea Associated Resource (KARE) Cohorts

Shim U, Kim HN, Sung YA, Kim HL

Metabolic syndrome (MetS) is a complex disorder related to insulin resistance, obesity, and inflammation. Genetic and environmental factors also contribute to the development of MetS, and through genome-wide association studies...
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A Cryptic ETV6/ABL1 Rearrangement Represents a Unique Fluorescence In Situ Hybridization Signal Pattern in a Patient with B Acute Lymphoblastic Leukemia

Song JS, Shin SY, Lee ST, Kim HJ, Kim SH

No abstract available.
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Simultaneous Translocation of Both TCR Loci (14q11) with Rare Partner Loci (Xq22 and 12p13) in a Case of T-lymphoblastic Leukemia

Kang DH, Kim SH, Jun JW, Lee YW, Shin HB, Ahn JY, Hong DS, Lee YK, Jeon BR

The most common recurrent cytogenetic abnormalities in T-lymphoblastic leukemia (T-acute lymphoblastic leukemia [T-ALL]) involve T-cell receptor (TCR) loci and a variety of partner genes, including HOX11, HOX11L2, MYC, and TAL1....
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Development of Acute Megakaryoblastic Leukemia with Isochromosome (12p) after a Primary Mediastinal Germ Cell Tumor in Korea

Yu N, Kim HR, Cha YJ, Park EK, Kim JW

The association of hematological malignancies with a mediastinal germ cell tumor (GCT) is very rare. We report one case of a young adult male with primary mediastinal GCT who subsequently...
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Miller-Dieker Syndrome with der(17)t(12;17)(q24.33;p13.3)pat Presenting with a Potential Risk of Mis-identification as a de novo Submicroscopic Deletion of 17p13.3

Kim YJ, Byun SY, Jo SA, Shin YB, Cho EH, Lee EY, Hwang SH

Miller-Dieker syndrome involves a severe type of lissencephaly, which is caused by defects in the lissencephaly gene (LIS1). We report the case of a female infant with der(17)t(12;17)(q24.33;p13.3)pat caused by...
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A Rare Case of Acute Lymphoblastic Leukemia with t(12;17)(p13;q21)

Kim JE, Woo KS, Kim KE, Kim SH, Park JI, Shaffer LG, Han JY

Patients with ALL rarely present with t(12;17)(p13;q21) as the primary clonal abnormality; this abnormality is associated with the expression of myeloid antigens. In this study, we have reported presumably the...
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Prenatal Diagnosis of Pallister-Killian Syndrome Associated with Pulmonary Stenosis and Right Ventricular Dilatation

Park IY, Shin JC, Kwon JY, Koo BK, Kim M, Lim J, Kim Y, Han K

Pallister-Killian syndrome (PKS) is a rare disorder characterized cytogenetically by tetrasomy 12p for isochromosome of the short arm of chromosome 12. PKS is diagnosed by prenatal genetic analysis through chorionic...
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Interaction between Smoking and the STAB2 Gene in the Severity of Rheumatoid Arthritis

Min JY, Min KB, Sung J, Cho SI

  • KMID: 2166437
  • Genomics Inform.
  • 2009 Mar;7(1):20-25.
Rheumatoid arthritis (RA) is a chronic autoimmune disorder that is characterized by inflammation of the synovial tissue and deterioration of the joint and bone. A recent study reported a potential...
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Familial Noonan Syndrome Confirmed by PTPN11 Gene Test

Kim YS, Lee ST, Ki CS, Park MJ

  • KMID: 2321966
  • J Korean Soc Pediatr Endocrinol.
  • 2008 Jun;13(1):117-121.
Noonan syndrome is characterized by short stature, mental retardation, typical facial morphology, webbed neck and congenital heart disease. Noonan syndrome can be inherited in an autosomal dominant manner but all...
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A Case of Addition of Chromosome 12 associated with Multiple Anomaly and Developmental Impairment

Chang YY, Jeong JE, Shin JY, Park HJ, Lee KH, Choi EJ, Kim JK, Chung HL, Seo ES, Kim WT

  • KMID: 2099131
  • J Korean Soc Neonatol.
  • 2008 May;15(1):89-93.
Duplication of chromosome 12p has been rarely reported and are thought to be associated with congenital malformations and impaired development. We report a baby boy born with multiple dysmorphic features...
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A Case of Tetrasomy 12p Diagnosed Prenatally

Lee KS, Lee SY, Park HJ, An HS, Park SJ, Han JY

  • KMID: 2272353
  • Korean J Obstet Gynecol.
  • 2004 May;47(5):1001-1005.
Tetrasomy for the short arm of chromosome 12 (Pallister-Killian syndrome) is an uncommon mosaic aneuploidy, which may present in the prenatal period with an ultrasonographically detected fetal abnormalities or following...
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Rapid Prenatal Diagnosis of Trisomy 21 by Real-Time Quantitative Polymerase Chain Reaction

Yang YH, Baik JH, Nam MS, Yang ES, Kil MW, Shin JS, Jung YW, Jang SY

  • KMID: 1925288
  • Korean J Obstet Gynecol.
  • 2003 Dec;46(12):2386-2391.
OBJECTIVE: Trisomy 21 (Down syndrome) is the most common chromosomal anomaly which occurs 1 out of 700-1000 birth. Current techniques such as amniocentesis, chorionic villi sampling (CVS), require lengthy laboratory...
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A Case of Paracentric Inversion of Chromosome 12(q13q22)

Kim SY, Lee CA, Han MY, Kim SJ, Lee KH, Chae KY

  • KMID: 2007352
  • J Korean Child Neurol Soc.
  • 2002 May;10(1):131-136.
Paracentric inversion of chromosome 12 is a rare chromosomal aberration, which has familial inheritance in a few cases. We encountered a 2-year-old girl who presented developmental delay, failure to thrive,...
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A Case of Dentatorubropallidoluysian Atrophy with Progressive Myoclonus Epilepsy

Joung JH, Bae SJ, Jeong DS, Bae WK, Ahn MY, Park HK

  • KMID: 2186036
  • J Korean Neurol Assoc.
  • 2001 Mar;19(2):173-175.
The dentatorubropallidoluysian atrophy (DRPLA) is a neurodegenerative disorder with expansion of an unstable CAG trinucleotide repeat in a gene on chromosome 12 and a rare cause of progressive myoclonus epilepsy...
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Dentatorubro-pallidoluysian Atrophy: The Clinical and Molecular Genetic Study of Three Korean Families

Bae YH, Im JH, Lee SA, Park SS, Lee MC

  • KMID: 2342835
  • J Korean Neurol Assoc.
  • 2000 Jul;18(4):465-468.
Dentatorubro-pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder with various clinical phenotypes and has a cytosine-adenine-guanine (CAG) trinucleotide repeat in a gene on chromosome 12. It has been known that...
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