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Accuracy and Performance Evaluation of Triplet Repeat Primed PCR as an Alternative to Conventional Diagnostic Methods for Fragile X Syndrome

Gu H, Kim MJ, Yang D, Song JY, Cho SI, Park SS, Seong MW

Background: Conventional diagnosis of fragile X syndrome (FXS) is based on a combination of fragment analysis (FA) and Southern blotting (SB); however, this diagnostic approach is time- and labor-intensive and...
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Clinical and Genetic Characteristics of Young Children with Fragile X Syndrome

Lee SH, Jeong JE, Jang YY, Kim JK

Purpose: This study analyzed the clinical and genetic characteristics of young children with fragile X syndrome (FXS) and evaluated the significance of FXS genetic (FX) testing for children with global...
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Spontaneous Coronary Artery Dissection in a female patient with fragile X syndrome

Park HY, Cho JM, Kim DH, Park CB, Kim CJ

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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Carrier screening for (CGG)n repeat expansion of FMR1 gene in Korean women

Kang KM, Sung SR, Park JE, Shin YJ, Park SH, Chin MU, Lyu SW, Cha DH, Shim SH

PURPOSE: We examined the prevalence and CGG/AGG repeat structure of expanded alleles of the FMR1 gene in preconceptional and pregnant Korean women. MATERIALS AND METHODS: The CGG repeats in the FMR1...
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Prenatal Population Screening for Fragile X Carrier and the Prevalence of Premutation Carriers in Korea

Han SH, Heo YA, Yang YH, Kim YJ, Cho HI, Lee KR

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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Molecular diagnosis of fragile X syndrome in a female child

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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Fragile X Syndrome in Korea: A Case Series and a Review of the Literature

Yim SY, Jeon BH, Yang JA, Kim HJ

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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Optimized Methods of Preimplantation Genetic Diagnosis for Trinucleotide Repeat Diseases of Huntington's Disease, Spinocerebellar Ataxia 3 and Fragile X Syndrome

Kim MJ, Lee HS, Lim CK, Cho JW, Kim JY, Koong MK, Song IO, Kang IS, Jun JH

  • KMID: 1986938
  • Korean J Reprod Med.
  • 2007 Sep;34(3):179-188.
OBJECTIVES: Many neurological diseases are known to be caused by expansion of trinucleotide repeats (TNRs). It is hard to diagnose the alteration of TNRs with single cell level for preimplantation...
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Update on Mental Retardation

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

Demirhan O, Tastemir D, Diler RS, Firat S, Avci A

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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Fragile X Premutation in Patients with Idiopathic Premature Ovarian Failure

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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Molecular screening for fragile x syndrome in mentally handicapped children in korea

Kwon SH, Lee KS, Hyun MC, Song KE, Kim JK

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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Prenatal Diagnosis of Fragile X Syndrome using Amniotic Fluid DNA

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 Genetic Study for FMR-1 Gene in Autistic Children

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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Incidence of Fragile X Syndrome in Korean Patients with Mental Retardation

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

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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Diagnosis of Fragile X Syndrome and DMD by using DIG System

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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Fragile X Syndrome : Clinical Characteristics and EEG Findings

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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Fragile site X chromosomes in mentally retarded boys

Moon HR, Moon SY

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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