메뉴 건너뛰기




Volumn 16, Issue 3, 2001, Pages 271-275

Molecular screening for fragile X syndrome in mentally handicapped children in Korea

Author keywords

Fragile X Syndrome; Mental Retardation; Polymerase Chain Reaction; Trinucleotide Repeats

Indexed keywords

ADOLESCENT; ARTICLE; CHILD; FEMALE; FRAGILE X SYNDROME; GENETIC SCREENING; GENETICS; HANDICAPPED CHILD; HUMAN; INFANT; KOREA; MALE; MENTAL DEFICIENCY; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; TRINUCLEOTIDE REPEAT; X CHROMOSOME;

EID: 0035380130     PISSN: 10118934     EISSN: None     Source Type: Journal    
DOI: 10.3346/jkms.2001.16.3.271     Document Type: Article
Times cited : (5)

References (24)
  • 2
    • 0025905795 scopus 로고
    • Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
    • Verkerk AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang FP. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991; 65: 905-14.
    • (1991) Cell , vol.65 , pp. 905-914
    • Verkerk, A.J.1    Pieretti, M.2    Sutcliffe, J.S.3    Fu, Y.H.4    Kuhl, D.P.5    Pizzuti, A.6    Reiner, O.7    Richards, S.8    Victoria, M.F.9    Zhang, F.P.10
  • 4
    • 0026781016 scopus 로고
    • A microdeletion of less than 250 kb, including the proximal part of the FMR-1 gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome
    • Wöhrle D, Kotzot D, Hirst MC, Manca A, Korn B, Schmidt A, Barbi G, Rott HD, Poustka A, Davies KE, et al. A microdeletion of less than 250 kb, including the proximal part of the FMR-1 gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome. Am J Hum Genet 1992; 51: 299-306.
    • (1992) Am J Hum Genet , vol.51 , pp. 299-306
    • Wöhrle, D.1    Kotzot, D.2    Hirst, M.C.3    Manca, A.4    Korn, B.5    Schmidt, A.6    Barbi, G.7    Rott, H.D.8    Poustka, A.9    Davies, K.E.10
  • 5
    • 0027489281 scopus 로고
    • An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype
    • Tarleton J, Richie R, Schwartz C, Rao K, Aylsworth AS, Lachiewicz A. An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype. Hum Mol Genet 1993; 2: 1973-4.
    • (1993) Hum Mol Genet , vol.2 , pp. 1973-1974
    • Tarleton, J.1    Richie, R.2    Schwartz, C.3    Rao, K.4    Aylsworth, A.S.5    Lachiewicz, A.6
  • 10
    • 0032932153 scopus 로고    scopus 로고
    • A simple multiplex FRAXA, FRAXE, and FRAXF PCR assay convenient for wide screening programs
    • Strelnikov V, Nemtsova M, Chesnokova G, Kuleshov N, Zaletayev D. A simple multiplex FRAXA, FRAXE, and FRAXF PCR assay convenient for wide screening programs. Hum Mutat 1999; 13: 166-9.
    • (1999) Hum Mutat , vol.13 , pp. 166-169
    • Strelnikov, V.1    Nemtsova, M.2    Chesnokova, G.3    Kuleshov, N.4    Zaletayev, D.5
  • 11
    • 0033040396 scopus 로고    scopus 로고
    • A methylation PCR approach for detection of fragile X syndrome
    • Panagopoulos I, Lassen C, Kristoffersson U, Aman P. A methylation PCR approach for detection of fragile X syndrome. Hum Mutat 1999; 14: 71-9.
    • (1999) Hum Mutat , vol.14 , pp. 71-79
    • Panagopoulos, I.1    Lassen, C.2    Kristoffersson, U.3    Aman, P.4
  • 14
    • 24344435392 scopus 로고    scopus 로고
    • Screening of fragile X syndrome by polymerase chain reaction in mentally retarded patients
    • Koo SH, Park JW, Park JH, Im CB, Kang HJ. Screening of fragile X syndrome by polymerase chain reaction in mentally retarded patients. Korean J Clin Pathol 1997; 17: 499-506.
    • (1997) Korean J Clin Pathol , vol.17 , pp. 499-506
    • Koo, S.H.1    Park, J.W.2    Park, J.H.3    Im, C.B.4    Kang, H.J.5
  • 15
    • 0027606381 scopus 로고
    • Fragile site X chromosomes in mentally retarded boys
    • Moon HR, Moon SY. Fragile site X chromosomes in mentally retarded boys. J Korean Med Sci 1993; 8: 192-6.
    • (1993) J Korean Med Sci , vol.8 , pp. 192-196
    • Moon, H.R.1    Moon, S.Y.2
  • 16
    • 24344472030 scopus 로고    scopus 로고
    • Fragile X syndrome: Clinical characteristics and EEG findings
    • Chung HJ, Cha KE, Lee SH. Fragile X syndrome: clinical characteristics and EEG findings. J Korean Pediatr Soc 1997; 40: 1110-19.
    • (1997) J Korean Pediatr Soc , vol.40 , pp. 1110-1119
    • Chung, H.J.1    Cha, K.E.2    Lee, S.H.3
  • 20
    • 0034081385 scopus 로고    scopus 로고
    • Implication of screening for FMR1 and FMR2 gene mutation in individuals with nonspecific mental retardation in Taiwan
    • Tzeng CC, Tzeng PY, Sun HS, Chen RM, Lin SJ. Implication of screening for FMR1 and FMR2 gene mutation in individuals with nonspecific mental retardation in Taiwan. Diagn Mol Pathol 2000; 9: 75-80.
    • (2000) Diagn Mol Pathol , vol.9 , pp. 75-80
    • Tzeng, C.C.1    Tzeng, P.Y.2    Sun, H.S.3    Chen, R.M.4    Lin, S.J.5
  • 21
  • 22
    • 0026343596 scopus 로고
    • Fragile X syndrome
    • Jacobs PA. Fragile X syndrome [editorial]. J Med Genet 1991; 28: 809-10.
    • (1991) J Med Genet , vol.28 , pp. 809-810
    • Jacobs, P.A.1
  • 24
    • 0031310667 scopus 로고    scopus 로고
    • FMRP associates with polyribosomes as an mRNP, and the 1304N mutation of severe fragile X syndrome abolishes this association
    • Feng Y, Absher D, Eberhart DE, Brown V, Malter HE, Warren ST. FMRP associates with polyribosomes as an mRNP, and the 1304N mutation of severe fragile X syndrome abolishes this association. Mol Cell 1997; 1: 109-18.
    • (1997) Mol Cell , vol.1 , pp. 109-118
    • Feng, Y.1    Absher, D.2    Eberhart, D.E.3    Brown, V.4    Malter, H.E.5    Warren, S.T.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.