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Fragile X-Associated Tremor/Ataxia Syndrome: An Illustrative Case

Lee C, Park KW, Choi N, Ryu HS, Chung SJ

No abstract available.
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Report on the External Quality Assessment Scheme for Molecular Diagnostics in Korea (2017)

Kim MJ, Yoon MH, Song JY, Cho SI, Park SS, Seong MW

Quality control for genetic analysis has become more important with a drastic increase in testing volume and clinical demands. The molecular diagnostics division of the Korean Association of Quality Assurance...
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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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Altered Translational Control of Fragile X Mental Retardation Protein on Myelin Proteins in Neuropsychiatric Disorders

Jeon SJ, Ryu JH, Bahn GH

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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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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Annual Report on the External Quality Assessment of Diagnostic Genetics in Korea (2015)

Kim HY, Park CH, Lee SJ, Cho SI, Seong MW, Park SS, Kim SH, Diagnostic Genetics Subcommittee, Korean Association of External Quality Assessment Service

The Diagnostic Genetics Subcommittee of Korean Association of External Quality Assessment Service conducted two trials in 2015 based on cytogenetics and molecular genetics surveys. A total of 43 laboratories participated...
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Annual Report on the External Quality Assessment Scheme for Diagnostic Genetics in Korea (2014)

Park CH, Shin SY, Park H, Cho SI, Seong MW, Park SS, Kim SH, Diagnostic Genetics Subcommittee, The Korean Association of External Quality Assessment Service

Quality control for genetic tests has become more important as testing volume and clinical demands have increased dramatically. The diagnostic genetics subcommittee of Korean Association of External Quality Assessment Service...
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Annual Report on the External Quality Assessment of Diagnostic Genetics in Korea (2013)

Jang MA, Shin SY, Park S, Seong MW, Park SS, Kim SH, Diagnostic Genetics Subcommittee, The Korean Association of Quality Assurance for Clinical Laboratory

  • KMID: 2200443
  • J Lab Med Qual Assur.
  • 2014 Jun;36(2):71-83.
Quality control for genetic tests has become more important as the test volume and clinical demands increase dramatically. The diagnostic genetics subcommittee of the Korean Association of Quality Assurance for...
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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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Unstable Repeat Expansion in Neurodegenerative Dementias: Mechanisms of Disease

Yang HD, Ho DH, Seol W

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)

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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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 Case of Premature Ovarian Failure in Patient with Unbalanced translocation on the X chromosome

Shin JH, Byun JC, Han MS, Cha MS, Je GH, Kim HH, Han JY

  • KMID: 2272664
  • Korean J Obstet Gynecol.
  • 2005 Aug;48(8):2000-2004.
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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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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Allele distribution of FMR1 gene in Korean women

Song KC, Kim GJ, Whang YJ, Choi SR, Lee SP, Whang BC, Lee ED

  • KMID: 2270288
  • Korean J Obstet Gynecol.
  • 2002 Jun;45(6):990-993.
OBJECTIVE: Fragile X syndrome is the most common form of familial mental retardation, attributable to (CGG)n expansion in the FMR1 gene. This study was undertaken to ascertain the distribution of...
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Assessment of Chromosomal Analyses of 1,180 Cases Suspected of Chromosomal Aberrations

Jeong HK, Ahn EY, Rim SS, Kim EY, Kim KS, Kim YW, Kim KB

  • KMID: 2335594
  • J Korean Pediatr Soc.
  • 2002 Mar;45(3):311-319.
PURPOSE: We have performed this study to obtain reference data for the distribution of chromosomal aberrations in Korea. METHODS: We analyzed 1,180 chromosomal study cases from Kwang ju Christian Hospital...
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