- Spontaneous Coronary Artery Dissection in a female patient with fragile X syndrome
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Park HY, Cho JM, Kim DH, Park CB, Kim CJ
- KMID: 2400268
- Kosin Med J.
- 2017 Dec;32(2):240-243.
- doi: 10.7180/kmj.2017.32.2.240
We report a case of Spontaneous coronary artery dissection associated with fragile X syndrome. The relationship between fragile X syndrome and Spontaneous coronary artery dissection is unclear. However, More research... -
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- Fragile site X chromosomes in mentally retarded boys
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Moon HR, Moon SY
- KMID: 1421974
- J Korean Med Sci.
- 1993 Jun;8(3):192-196.
- doi: 10.3346/jkms.1993.8.3.192
The fragile X syndrome is a common X-linked mental retardation and autism, affecting females as well as males. The fragile site X chromosomes were studied in a series of 153... -
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- Fragile X-Associated Tremor/Ataxia Syndrome: An Illustrative Case
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Lee C, Park KW, Choi N, Ryu HS, Chung SJ
- KMID: 2464637
- J Mov Disord.
- 2019 Sep;12(3):184-186.
- doi: 10.14802/jmd.18060
No abstract available. -
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- Incidence of Fragile X Syndrome in Korean Patients with Mental Retardation
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Choi YM, Hwang DY, Jun JK, Choe J, Park SH, Noh MK, Oh SK, Ku SY, Suh CS, Kim SH, Yang SW, Cho SC, Moon SY, Lee JY
- KMID: 2075935
- Korean J Obstet Gynecol.
- 1999 Nov;42(11):2458-2464.
Fragile X syndrome is the most common cause of inherited mental retardation. It accounts for 0.2% - 2.7% of patients with mental retardation, based upon the molecular genetic diagnosis. However,... -
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- DNA Testing for Fragile X Syndrome in School for Emotionally Severely Handicapped Children in Korea
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Hong SD, Lee S, Oh MR, Jin DK
- KMID: 1540019
- J Genet Med.
- 1998 Dec;2(2):83-86.
Though Fragile X syndrome is one of the most common inherited causes of mental retardation, it is not much detected yet in Korean population. One of the reason may be... -
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- Prenatal Diagnosis of Fragile X Syndrome using Amniotic Fluid DNA
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Kim GJ, Kim SY, Hwang BC, Park CY, Choi YD, Whang YJ
- KMID: 2076204
- Korean J Obstet Gynecol.
- 2001 Mar;44(3):558-565.
BACKGROUND: The fragile X syndrome is the most common cause of inherited mental retardation, is almost always caused by abnormal CGG trinucleotide amplication within the FMR1(fragile X mental retardation) gene... -
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- Molecular screening for fragile x syndrome in mentally handicapped children in korea
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Kwon SH, Lee KS, Hyun MC, Song KE, Kim JK
- KMID: 1129896
- J Korean Med Sci.
- 2001 Jun;16(3):271-275.
- doi: 10.3346/jkms.2001.16.3.271
Fragile X syndrome is one of the most common forms of inherited mental retardation and is caused by the expansion of the CGG trinucleotide repeats in the FMR-1 gene. This... -
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- Update on Mental Retardation
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Yim SY
- KMID: 1810940
- J Korean Acad Rehabil Med.
- 2006 Apr;30(2):103-110.
Mental retardation is a disability characterized by significant limitations both in intellectual functioning and in adaptive behavior as expressed in conceptual, social, and adaptive skills, which originates before the age... -
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- A Cytogenetic Study in 120 Turkish Children with Intellectual Disability and Characteristics of Fragile X Syndrome
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Demirhan O, Tastemir D, Diler RS, Firat S, Avci A
- KMID: 720896
- Yonsei Med J.
- 2003 Aug;44(4):583-592.
- doi: 10.3349/ymj.2003.44.4.583
We review the evidence for the frequency of the fragile X syndrome (FXS), other X-linked abnormalities, and other chromosomal disabilities of Turkish pediatric psychiatry outpatients with intellectual disability. Reported clinical... -
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- Molecular Genetic Study for FMR-1 Gene in Autistic Children
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Kang KM, Kwak DI, Lee MS
- KMID: 2340403
- J Korean Neuropsychiatr Assoc.
- 1999 Nov;38(6):1479-1487.
OBJECTIVES: To elucidate an association of the fragile X syndrome with autism, Southern blot analysis was performed in 66 autistic children aged from 2 years to 11 years. METHODS: Subjects were... -
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- Fragile X Syndrome in Korea: A Case Series and a Review of the Literature
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Yim SY, Jeon BH, Yang JA, Kim HJ
- KMID: 1786887
- J Korean Med Sci.
- 2008 Jun;23(3):470-476.
- doi: 10.3346/jkms.2008.23.3.470
The purposes of this study were to present DNA analysis findings of our case series of fragile X syndrome (FXS) based on methylation-specific polymerase chain reaction (MS-PCR), PCR, and Southern... -
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- Fragile X Syndrome : Clinical Characteristics and EEG Findings
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Chung HJ, Cha KE, Lee SH
- KMID: 2335271
- J Korean Pediatr Soc.
- 1997 Aug;40(8):1110-1119.
PURPOSE: Fragile X syndrome is an X-llinked genetic disorder and is characterized by mental retardation, learning disability, behavior disorder, and autism with typical elongated face, large ears, and macro-orchidism. Recent... -
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- Molecular diagnosis of fragile X syndrome in a female child
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Jeong SY, Yang JA, Kim HJ
- KMID: 2184446
- J Genet Med.
- 2008 Jun;5(1):41-46.
PURPOSE: Fragile X syndrome (FXS) is the most common heritable cause of cognitive impairment. FXS is caused by hyperexpansion and hypermethylation of a polymorphic CGG trinucleotide repeat in the 5'... -
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- Diagnosis of Fragile X Syndrome and DMD by using DIG System
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Lee SH, Cho SW, Han JH, Lee KW, Cha KE, Han SY, Kay CW, Cho SH, Oum KB, Kwak IP
- KMID: 2026749
- Korean J Obstet Gynecol.
- 1998 Nov;41(11):2849-2854.
The aim of this study was to develop a rapid and safe non-radioactive DIG DNA labeling and detection for Southern blot analysis for fragile X syndrome and Duchenne muscular dystrophy... -
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- Altered Translational Control of Fragile X Mental Retardation Protein on Myelin Proteins in Neuropsychiatric Disorders
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Jeon SJ, Ryu JH, Bahn GH
- KMID: 2378800
- Biomol Ther.
- 2017 May;25(3):231-238.
- doi: 10.4062/biomolther.2016.042
Myelin is a specialized structure of the nervous system that both enhances electrical conductance and insulates neurons from external risk factors. In the central nervous system, polarized oligodendrocytes form myelin... -
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- Prenatal Population Screening for Fragile X Carrier and the Prevalence of Premutation Carriers in Korea
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Han SH, Heo YA, Yang YH, Kim YJ, Cho HI, Lee KR
- KMID: 1428897
- J Genet Med.
- 2012 Dec;9(2):73-77.
- doi: 10.5734/JGM.2012.9.2.73
PURPOSE: Fragile X carrier detection before or at early pregnancy through a wide screening program may not only confer a risk of having offspring with Fragile X syndrome (FXS), but... -
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- Chromosomal abnormalities in child psychiatric patients
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Hong KE, Kim JH, Moon SY, Oh SK
- KMID: 1731310
- J Korean Med Sci.
- 1999 Aug;14(4):377-385.
- doi: 10.3346/jkms.1999.14.4.377
To determine the frequency of chromosomal abnormalities in a child psychiatric population, and to evaluate possible associations between types of abnormalities and patient's clinical characteristics, cytogenetic examination was... -
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- Fragile X Premutation in Patients with Idiopathic Premature Ovarian Failure
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Hur CY, Choi YM, Park SH, Yoon BK, Lee KS, Na YJ, Lee BS, Rheu CH, Lee HJ, Seol HW, Oh SK, Ku SY, Suh CS, Kim SH, Kim JG, Moon SY
- KMID: 2272040
- Korean J Obstet Gynecol.
- 2003 May;46(5):978-983.
OBJECTIVE: To explore the incidence of fragile X premutation in patients with idiopathic premature ovarian failure, particularly in the Korean population. DESIGN: A prospective study. MATERIALS AND METHODS: Eighty-three women affected by... -
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- Unstable Repeat Expansion in Neurodegenerative Dementias: Mechanisms of Disease
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Yang HD, Ho DH, Seol W
- KMID: 2172260
- Dement Neurocogn Disord.
- 2012 Mar;11(1):1-12.
- doi: 10.12779/dnd.2012.11.1.1
The majority of neurodegenerative dementias are thought to result primarily from the misfolding, aggregation and accumulation of proteins which interfere with protein homeostasis in the brain. Some of them are... -
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- A case of unusual premature ovarian failure with 46,X,dup(Xq)
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Hyeon HS, Park BR, Kim YS, Mun ST, Jeon S, Choi YS, Bae DH
- KMID: 1474945
- Korean J Obstet Gynecol.
- 2009 Aug;52(8):883-888.
Premature ovarian failure (POF) is defined as the complete cessation of menses less than 40 years of age. The criteria are more than four months of amenorrhea, with serum follicle... -
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