- Heterozygote Frequencies of Factor VIII Gene by the Polymerase Chain Reaction using the Intragenic Bcl I Polymorphism and Hind III Polymorphism
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Lieu HH, Oh BH
- KMID: 2260786
- Korean J Obstet Gynecol.
- 1997 Apr;40(4):777-783.
OBJECTIVE: The study was conducted to calculate the heterozygote frequencies of factr VIII gene in Korea, using two PCR-RFLPs(intron 18-Bcl I ploymorp[hism and intron 19-Hind III polymorphism). STUDY DESIGN: Twenty six... -
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- Ischemic Stroke in a Patient with Heterozygote Fabry's Disease
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Yang SW, Choi JC, Kim HW, Jeong JH, Hyun CL, Koh MJ
- KMID: 2435848
- J Korean Neurol Assoc.
- 2018 Nov;36(4):341-344.
- doi: 10.17340/jkna.2018.4.14
It is uncommon for Fabry's disease (FD) patient to present with an isolated ischemic stroke without other typical symptoms or signs of FD. A 48-year-old woman presented with recurrent limb... -
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- Penetrating Atherosclerotic Ulcer of the Descending Thoracic Aorta in a Patient with Heterozygote Familial Hypercholesterolemia
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Han KH, Park YB, Seo JD, Lee YW
- KMID: 1670934
- Korean Circ J.
- 1994 Apr;24(2):329-334.
- doi: 10.4070/kcj.1994.24.2.329
The penetrating atherosclerotic ulcer of the aorta resulting from the atherosclerosis of the aortic wall can clinically mimic type III aortic dissection, since both diseases produce the ulceration and dissection... -
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- Benign Recurrent Intrahepatic Cholestasis with a Single Heterozygote Mutation in the ATP8B1 Gene
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Lee YS, Kim MJ, Ki CS, Lee YM, Lee Y, Choe YH
- KMID: 2315331
- Pediatr Gastroenterol Hepatol Nutr.
- 2012 Jun;15(2):122-126.
Benign recurrent intrahepatic cholestasis (BRIC) is a rare autosomal recessive inherited disorder characterized by multiple recurrent episodes of severe cholestatic jaundice without obstruction of extrahepatic bile duct. We present the... -
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- Analysis of the Galactose-1-Phosphate Uridyltransferase (GALT) Gene in a Duarte Variant/classical Galactosemia (D/G) Compound Heterozygote
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Yang HR, Kim JE, Ko JS, Song JH, Park SS, Seo JK
- KMID: 1601082
- Korean J Pediatr Gastroenterol Nutr.
- 2003 Mar;6(1):84-89.
Galactosemia is a rare autosomal recessive disorder caused by the deficiency of galactose-1-phosphate uridyltransferase (GALT) enzyme activity. Classic galactosemia (G/G) is due to severe GALT deficiency in the presence of... -
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- Living-Related Liver Transplantation with Heterozygote Carrier Graft in Children with Wilson Disease
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Kim JT, Chang SH, Choi BH, Kim KM, Yoo HW, Lee YJ, Lee SG
- KMID: 2275185
- Korean J Pediatr Gastroenterol Nutr.
- 2003 Sep;6(2):161-166.
PURPOSE: The purpose of this study was to evaluate the efficiency of treatment of living-related liver transplantation (LRLT) with the parental heterozygote carrier graft in children with Wilson disease. METHODS:... -
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- Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a GATA3 mutation
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Shim YS, Choi W, Hwang IT, Yang S
- KMID: 1789533
- Ann Pediatr Endocrinol Metab.
- 2015 Mar;20(1):59-63.
- doi: 10.6065/apem.2015.20.1.59
Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome is an autosomal dominant disease caused by mutations in the GATA3 gene on chromosome 10p15. We identified a patient diagnosed with hypoparathyroidism who... -
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- Two Cases of Congenital Factor VII Deficiency with Family Study
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Lee HW, Kim EY, Choi SS, Yoon HR, Kim JJ, Pai SH
- KMID: 2038497
- Korean J Hematol.
- 1997 Nov;32(3):423-427.
Congenital factor VII deficiency is a rare coagulation disorder transmitted in autosomal recessive pattern and is characterized by prolonged prothrombin time with normal activated partial thromboplastin time. It is confirmed... -
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- Bloody Diarrhea as a Presentation Manifestation of Familial Mediterranean Fever in a Patient with Compound Heterozygote Mutations of the MEFV Gene
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Fallahi GH, Rezaei N, Sadjadei N
- KMID: 1806652
- Gut Liver.
- 2013 Jul;7(4):497-499.
Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease characterized by episodic fever and inflammatory polyserositis, which could lead to a variety of manifestations, including recurrent abdominal pain. Herein, a... -
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- The Carrier Detection and Genetic Counseling of Duchenne and Becker Muscular Dystrophy Using Linkage Analysis
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Moon WN, Ahn JY, Park SY, Kim YC
- KMID: 2105680
- J Korean Orthop Assoc.
- 2000 Jun;35(3):527-532.
PURPOSE: Restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR) is a widely accepted method for carrier detection of Duchenne and Becker muscular dystrophy (DMD and BMD) . This study was done... -
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- Prenatal diagnosis of a heterozygote of salt wasting congenital adrenal hyperplasia due to 21-hydroxylase deficiency by genetic linkage analysis
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Oh BH, Park JK, Choi YM, Yang IM, Kim YS, Choi YK
- KMID: 1421288
- J Korean Med Sci.
- 1988 Jun;3(2):73-77.
- doi: 10.3346/jkms.1988.3.2.73
For the purpose of prenatal diagnosis of CAH, genetic linkage analysis by HLA genotyping with lymphocytes and cultured amniotic cells were performed in a family at risk in which two... -
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- A Case of Glucose-6-phosphate dehydrogenase Riley Causing Hemolytic Anemia
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Park SW, Lee HJ, Lee W, Whang KT
- KMID: 2083383
- Korean J Hematol.
- 1999 May;34(2):334-337.
A glucose-6-phoshate dehydrogenase variant called G6PD Riley was detected in an Korean boy with nonspherocytic hemolytic anemia. Using polymerase chain reaction based single-strand conformation polymorphism (PCR-SSCP) followed by DNA sequence... -
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- Effect of Taekwondo Training on Physical Fitness and Growth Index According to IGF-1 Gene Polymorphism in Children
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Lee B, Kim K
- KMID: 2285577
- Korean J Physiol Pharmacol.
- 2015 Jul;19(4):341-347.
- doi: 10.4196/kjpp.2015.19.4.341
This study analyzed the effect of regular Taekwondo training for 16 weeks on physical fitness and growth index depending on different IGF-1 gene polymorphisms. The subjects of the study were... -
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- Prenatal diagnosis of Duchenne muscular dystrophy using Polymerase Chain Reaction-restriction fragment length polymorphism(RFLP)
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Cha DH, Lee K, Choi JR, Song KS
- KMID: 2261991
- Korean J Obstet Gynecol.
- 2000 Jun;43(6):1080-1087.
OBJECTIVE: Duchenne muscular dystrophy(DMD) is a X-linked recessive disease and results from mutation in the dystrophin gene. In this study, we evaluate the efficacy of polymerase chain reaction-restriction fragment length polymorphism in... -
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- 14-3-3γ Haploinsufficient Mice Display Hyperactive and Stress-sensitive Behaviors
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Kim DE, Cho CH, Sim KM, Kwon O, Hwang EM, Kim HW, Park JY
- KMID: 2439005
- Exp Neurobiol.
- 2019 Feb;28(1):43-53.
- doi: 10.5607/en.2019.28.1.43
14-3-3γ plays diverse roles in different aspects of cellular processes. Especially in the brain where 14-3-3γ is enriched, it has been reported to be involved in neurological and psychiatric diseases... -
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- Dopamine D2 Receptor Gene TaqI A Polymorphism in Korean Social Phobia Patients: Preliminary Study
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Kim BJ, Lim SW, Shin DW, Oh KS, Lee MS
- KMID: 2249213
- Korean J Biol Psychiatry.
- 2007 May;14(2):106-114.
OBJECTIVE: It is suggested that disturbance of dopaminergic system might be related to the possible mechanism of social phobia. The aim of this study was to investigate the possible association... -
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- Ocular Manifestation of Compound Heterozygotic Mutation in Congenital Erythropoietic Porphyria
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Kim SE, Lee HK
- KMID: 2111262
- J Korean Ophthalmol Soc.
- 2009 Mar;50(3):477-480.
- doi: 10.3341/jkos.2009.50.3.477
PURPOSE: Congenital erythropoietic porphyria (CEP) is a rare disorder inherited as an autosomal recessive trait, which is characterized by almost complete reduction of uroporphyrinogen III synthase (UROS) activity. The authors... -
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- Autosomal Dominant Hereditary Spastic Paraplegia Relavant with a Novel Thr369Pro Mutation in SPAST Gene
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Yi SE, Hong YH, Kim DH, Lee JS, Kim GH, Yoo HW, Joo IS
- KMID: 1966485
- J Korean Neurol Assoc.
- 2011 Nov;29(4):365-367.
Hereditary spastic paraplegia (HSP) is a group of genetically heterogeneous neurodegenerative disorders that are characterized by progressive spasticity and weakness of both lower extremities. Here we report a novel missense... -
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- A Case of Familial Hypercholesterolemia with Diabetes Mellitus
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Sohn YK, Chang KY, Lee KH, Tockgo YC
- KMID: 1554070
- J Korean Pediatr Soc.
- 1997 Jun;40(6):862-866.
Familial Hypercholesterolemia is the most common hyperlipoproteinemia during the childhood, which occurs from the mutation of genes that regulates low-density lipoproteins (LDL), and is classified into two types, the homozygote... -
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- Relationship between Alcohol Withdrawal Symptoms and Dopaminergic Gene Polymorphisms(DRD2, DAT, COMT) in Alcohol Dependence Patients
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Choi TY, Kim HN, Han DH, Min KJ, Lee YS, Na C
- KMID: 1511826
- Korean J Biol Psychiatry.
- 2006 Aug;13(3):178-190.
with DAT-9 gene allele. And The total score of CIWA-Ar scale in the subject without DAT-9 gene allele was significantly higher than in the subject with DAT-9 gene allele.... -
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