메뉴 건너뛰기




Volumn 80, Issue 5, 2008, Pages 581-587

Haplotype and AGG interspersion analysis of FMR1 alleles in a croatian population: No founder effect detected in patients with fragile X syndrome

Author keywords

Cgg repeats; Croatia; DXS548; FMR1; Fragile X syndrome; Fraxa; FRAXAC1; Haplotype; Linkage; Mental retardation

Indexed keywords

ARTICLE; CHROMOSOMAL INSTABILITY; CHROMOSOME; CLINICAL ASSESSMENT; CONTROLLED STUDY; CROATIA; EASTERN EUROPE; FRAGILE X SYNDROME; GENE; GENE FREQUENCY; GENE LOCUS; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC POLYMORPHISM; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; NUCLEOTIDE REPEAT; SEQUENCE ANALYSIS; ALLELE; CASE CONTROL STUDY; GENETIC MARKER; GENETICS; GENOTYPE; MALE; POPULATION GENETICS; STATISTICS;

EID: 67449090355     PISSN: 00187143     EISSN: 15346617     Source Type: Journal    
DOI: 10.3378/1534-6617-80.5.581     Document Type: Article
Times cited : (4)

References (15)
  • 1
    • 0242500334 scopus 로고    scopus 로고
    • The FMR1 CGG repeat and linked microsatellite markers in two Basque valleys
    • Arrieta, I., O. Peñagarikano, M. Tesslez et al. 2003. The FMR1 CGG repeat and linked microsatellite markers in two Basque valleys. Heredity 90(3): 206-211.
    • (2003) Heredity , vol.90 , Issue.3 , pp. 206-211
    • Arrieta, I.1    Peñagarikano, O.2    Tesslez, M.3
  • 2
    • 0027366312 scopus 로고
    • Founder effect in a Belgian-Dutch fragile X population
    • Buyle, S., E. Reyniers, L. Vits et al. 1993. Founder effect in a Belgian-Dutch fragile X population. Hum. Genet. 92(3): 269-272.
    • (1993) Hum. Genet. , vol.92 , Issue.3 , pp. 269-272
    • Buyle, S.1    Reyniers, E.2    Vits, L.3
  • 3
    • 0029996849 scopus 로고    scopus 로고
    • Fragile X founder chromosomes in Italy: A few initial events and possible explanation for their heterogeneity
    • Chiurazzi, P., M. Genuardi, L. Kozak et al. 1996a. Fragile X founder chromosomes in Italy: A few initial events and possible explanation for their heterogeneity. Am. J. Med. Genet. 64(1): 209-215.
    • (1996) Am. J. Med. Genet. , vol.64 , Issue.1 , pp. 209-215
    • Chiurazzi, P.1    Genuardi, M.2    Kozak, L.3
  • 4
    • 0030580987 scopus 로고    scopus 로고
    • Significance of linkage disequilibrium between the fragile X locus and its flanking markers
    • Chiurazzi, P., J. Macpherson, S. Sherman et al. 1996b. Significance of linkage disequilibrium between the fragile X locus and its flanking markers. Am. J. Med. Genet. 64(1): 203-208.
    • (1996) Am. J. Med. Genet. , vol.64 , Issue.1 , pp. 203-208
    • Chiurazzi, P.1    Macpherson, J.2    Sherman, S.3
  • 5
    • 0029916569 scopus 로고    scopus 로고
    • Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome
    • Eichler, E. E., J. N. Macpherson, A. Murray et al. 1996. Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome. Hum. Mol. Genet. 5(3): 319-330.
    • (1996) Hum. Mol. Genet. , vol.5 , Issue.3 , pp. 319-330
    • Eichler, E.E.1    Macpherson, J.N.2    Murray, A.3
  • 6
    • 1842367311 scopus 로고    scopus 로고
    • Expand long PCR for fragile X mutation detection
    • Hecimovic, S., I. Barisic, A. Muller et al. 1997. Expand long PCR for fragile X mutation detection. Clin. Genet. 52(3): 147-154.
    • (1997) Clin. Genet. , vol.52 , Issue.3 , pp. 147-154
    • Hecimovic, S.1    Barisic, I.2    Muller, A.3
  • 7
    • 0028360849 scopus 로고
    • Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles
    • Kunst, C. B., and S. T. Warren. 1994. Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles. Cell 77(6): 853-861.
    • (1994) Cell , vol.77 , Issue.6 , pp. 853-861
    • Kunst, C.B.1    Warren, S.T.2
  • 8
    • 0034679873 scopus 로고    scopus 로고
    • Haplotype and AGG-interspersion analysis of FMR1 (CGG)(n) alleles in the Danish population: Implications for multiple mutational pathways towards fragile X alleles
    • Larsen, L. A., J. S. Armstrong, K. Gronskov et al. 2000. Haplotype and AGG-interspersion analysis of FMR1 (CGG)(n) alleles in the Danish population: Implications for multiple mutational pathways towards fragile X alleles. Am. J. Med. Genet. 93(2): 99-106.
    • (2000) Am. J. Med. Genet. , vol.93 , Issue.2 , pp. 99-106
    • Larsen, L.A.1    Armstrong, J.S.2    Gronskov, K.3
  • 9
    • 0035931390 scopus 로고    scopus 로고
    • Haplotype analysis at the FRAXA locus in Thai subjects
    • Limprasert, P., V. Saechan, N. Ruangdaraganon et al. 2001. Haplotype analysis at the FRAXA locus in Thai subjects. Am. J. Med. Genet. 98(3): 224-229.
    • (2001) Am. J. Med. Genet. , vol.98 , Issue.3 , pp. 224-229
    • Limprasert, P.1    Saechan, V.2    Ruangdaraganon, N.3
  • 10
    • 0028219673 scopus 로고
    • Insert size and flanking haplotype in fragile X and normal populations: Possible multiple origins for the fragile X mutation
    • Macpherson, J. N., H. Bullman, S. A. Youings et al. 1994. Insert size and flanking haplotype in fragile X and normal populations: Possible multiple origins for the fragile X mutation. Hum. Mol. Genet. 3(3): 399-405.
    • (1994) Hum. Mol. Genet. , vol.3 , Issue.3 , pp. 399-405
    • Macpherson, J.N.1    Bullman, H.2    Youings, S.A.3
  • 11
    • 0028240436 scopus 로고
    • Strong founder effect for the fragile X syndrome in Sweden
    • Malmgren, H., K. H. Gustavson, C. Oudet et al. 1994. Strong founder effect for the fragile X syndrome in Sweden. Eur. J. Hum. Genet. 2(2): 103-109.
    • (1994) Eur. J. Hum. Genet. , vol.2 , Issue.2 , pp. 103-109
    • Malmgren, H.1    Gustavson, K.H.2    Oudet, C.3
  • 12
    • 0033612335 scopus 로고    scopus 로고
    • Haplotype analysis of the fragile X syndrome gene FMR1 in the Czech Republic
    • Pekarik, V., M. Blazkova, and L. Kozak. 1999. Haplotype analysis of the fragile X syndrome gene FMR1 in the Czech Republic. Am. J. Med. Genet. 84(3): 214-216.
    • (1999) Am. J. Med. Genet. , vol.84 , Issue.3 , pp. 214-216
    • Pekarik, V.1    Blazkova, M.2    Kozak, L.3
  • 13
    • 3042725471 scopus 로고    scopus 로고
    • A new insight into fragile X syndrome among Basque population
    • Peñagarikano, O., A. Gil, M. Telez et al. 2004. A new insight into fragile X syndrome among Basque population. Am. J. Med. Genet. 128(3): 250-255.
    • (2004) Am. J. Med. Genet. , vol.128 , Issue.3 , pp. 250-255
    • Peñagarikano, O.1    Gil, A.2    Telez, M.3
  • 14
    • 0031454183 scopus 로고    scopus 로고
    • No founder effect detected in Jewish Ashkenazi patients with fragile-X syndrome
    • Pesso, R., G. Barkai, Y. Ravia et al. 1997. No founder effect detected in Jewish Ashkenazi patients with fragile-X syndrome. Hum. Genet. 101(2): 186-189.
    • (1997) Hum. Genet. , vol.101 , Issue.2 , pp. 186-189
    • Pesso, R.1    Barkai, G.2    Ravia, Y.3
  • 15
    • 0029017085 scopus 로고
    • Fragile X gene instability: Anchoring AGGs and linked microsatellites
    • Zhong, N., W. Yang, C. Dobkin et al. 1995. Fragile X gene instability: Anchoring AGGs and linked microsatellites. Am. J. Hum. Genet. 57(2): 351-361.
    • (1995) Am. J. Hum. Genet. , vol.57 , Issue.2 , pp. 351-361
    • Zhong, N.1    Yang, W.2    Dobkin, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.