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Volumn 67, Issue 1, 2005, Pages 38-46

FMR1 alleles in Tasmania: A screening study of the special educational needs population

Author keywords

Distribution of FMR1 alleles; Fragile X; Grey zone alleles; Special educational needs; Transmission stability

Indexed keywords

CYTOSINE; DNA; FRAGILE X MENTAL RETARDATION PROTEIN; GUANINE;

EID: 19944434117     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2004.00344.x     Document Type: Article
Times cited : (17)

References (59)
  • 1
    • 0025905795 scopus 로고
    • Identification of a gene (FMR1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
    • Verkerk AJMH, Pieretti M, Sutcliffe JS et al. Identification of a gene (FMR1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991: 65: 905-914.
    • (1991) Cell , vol.65 , pp. 905-914
    • Verkerk, A.J.M.H.1    Pieretti, M.2    Sutcliffe, J.S.3
  • 2
    • 0005968048 scopus 로고    scopus 로고
    • Epidemiology
    • 3rd edn. (Hagerman RJ, Hagerman PJ, eds). Baltimore: The Johns Hopkins University Press
    • Sherman S. Epidemiology. In: Fragile X syndrome: diagnosis, treatment and research, 3rd edn. (Hagerman RJ, Hagerman PJ, eds). Baltimore: The Johns Hopkins University Press, 2002: 136-168.
    • (2002) Fragile X Syndrome: Diagnosis, Treatment and Research , pp. 136-168
    • Sherman, S.1
  • 3
    • 0035368955 scopus 로고    scopus 로고
    • The fragile X mental retardation protein inhibits translation via interacting with mRNA
    • Li Z, Zhang Y, Ku L et al. The fragile X mental retardation protein inhibits translation via interacting with mRNA. Nucleic Acids Res 2001: 29: 2276-2283.
    • (2001) Nucleic Acids Res. , vol.29 , pp. 2276-2283
    • Li, Z.1    Zhang, Y.2    Ku, L.3
  • 4
    • 0030986183 scopus 로고    scopus 로고
    • Abnormal dendritic spines in fragile X knockout mouse: Maturation and pruning deficits
    • Comery TA, Harris JB, Willems PJ et al. Abnormal dendritic spines in fragile X knockout mouse: maturation and pruning deficits. Proc Nat Acad Sci USA 1997: 94: 5401-5404.
    • (1997) Proc. Nat. Acad. Sci. USA , vol.94 , pp. 5401-5404
    • Comery, T.A.1    Harris, J.B.2    Willems, P.J.3
  • 5
    • 0028168645 scopus 로고
    • Length of uninterrupted CGG repeats determines instability in the FMR-1 gene
    • Eichler EE, Holden JJA, Popovich BW et al. Length of uninterrupted CGG repeats determines instability in the FMR-1 gene. Nat Genet 1994: 8: 88-94.
    • (1994) Nat. Genet. , vol.8 , pp. 88-94
    • Eichler, E.E.1    Holden, J.J.A.2    Popovich, B.W.3
  • 6
    • 0031457067 scopus 로고    scopus 로고
    • Sequence analysis of long FMR1 arrays in the Japanese population: Insights into the generation of long (CGG)n tracts
    • Hirst MC, Arinami T, Laird CD. Sequence analysis of long FMR1 arrays in the Japanese population: insights into the generation of long (CGG)n tracts. Hum Genet 1997: 101: 214-218.
    • (1997) Hum. Genet. , vol.101 , pp. 214-218
    • Hirst, M.C.1    Arinami, T.2    Laird, C.D.3
  • 7
    • 0028360849 scopus 로고
    • Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles
    • Kunst CB, Warren S. Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles. Cell 1994: 77: 853-861.
    • (1994) Cell , vol.77 , pp. 853-861
    • Kunst, C.B.1    Warren, S.2
  • 8
    • 0025952727 scopus 로고
    • Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation
    • Rousseau FD, Heitz D, Biancalana V et al. Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med 1991: 325: 1673-1681.
    • (1991) N. Engl. J. Med. , vol.325 , pp. 1673-1681
    • Rousseau, F.D.1    Heitz, D.2    Biancalana, V.3
  • 9
    • 0025833298 scopus 로고
    • Absence of expression of the FMR1 gene in fragile X syndrome
    • Pieretti M, Zhang FP, Fu YH et al. Absence of expression of the FMR1 gene in fragile X syndrome. Cell 1991: 66: 817-822.
    • (1991) Cell , vol.66 , pp. 817-822
    • Pieretti, M.1    Zhang, F.P.2    Fu, Y.H.3
  • 10
    • 0001966753 scopus 로고    scopus 로고
    • The physical and behavioral phenotype
    • 3rd edn. (Hagerman RJ, Hagerman PJ, eds). Baltimore: The Johns Hopkins University Press
    • Hagerman RJ. The physical and behavioral phenotype. In: Fragile X syndrome: diagnosis, treatment and research, 3rd edn. (Hagerman RJ, Hagerman PJ, eds). Baltimore: The Johns Hopkins University Press, 2002: 3-109.
    • (2002) Fragile X Syndrome: Diagnosis, Treatment and Research , pp. 3-109
    • Hagerman, R.J.1
  • 11
    • 0034130169 scopus 로고    scopus 로고
    • FRAXA and FRAXE; the results of a five year study
    • Youings SA, Murray A, Dennis N et al. FRAXA and FRAXE; the results of a five year study. J Med Genet 2002: 37: 415-421.
    • (2002) J. Med. Genet. , vol.37 , pp. 415-421
    • Youings, S.A.1    Murray, A.2    Dennis, N.3
  • 12
    • 0026345716 scopus 로고
    • Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
    • Fu YH, Kuhl DPA, Pizzuti A et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 1991: 67: 1047-1058.
    • (1991) Cell , vol.67 , pp. 1047-1058
    • Fu, Y.H.1    Kuhl, D.P.A.2    Pizzuti, A.3
  • 13
    • 18544371505 scopus 로고    scopus 로고
    • Technical standards and guidelines for fragile X: The first of a series of disease specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics
    • Quality Assurance Subcommittee Laboratory Practice Committee
    • Maddalena A, Richards CS, McGinniss MJ et al. Technical standards and guidelines for fragile X: the first of a series of disease specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee Laboratory Practice Committee. Genet Med 2001: 3: 200-205.
    • (2001) Genet. Med. , vol.3 , pp. 200-205
    • Maddalena, A.1    Richards, C.S.2    McGinniss, M.J.3
  • 14
    • 0037084852 scopus 로고    scopus 로고
    • Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: Loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles
    • Dombrowski C, Lévesque S, Morel ML et al. Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles. Hum Mol Genet 2002: 11: 371-378.
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 371-378
    • Dombrowski, C.1    Lévesque, S.2    Morel, M.L.3
  • 15
    • 0026462708 scopus 로고
    • Inheritance of the fragile X syndrome: Size of the fragile X premutation is a major determinant of the transition to full mutation
    • Heitz D, Devys D, Imbert G et al. Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation. J Med Genet 1992: 29: 794-801.
    • (1992) J. Med. Genet. , vol.29 , pp. 794-801
    • Heitz, D.1    Devys, D.2    Imbert, G.3
  • 16
    • 0028237294 scopus 로고
    • Transmitting males and carrier females in fragile X revisited
    • Loesch DZ, Hay DA, Mulley J. Transmitting males and carrier females in fragile X revisited. Am J Med Genet 1994: 51: 392-399.
    • (1994) Am. J. Med. Genet. , vol.51 , pp. 392-399
    • Loesch, D.Z.1    Hay, D.A.2    Mulley, J.3
  • 17
  • 18
    • 0032541268 scopus 로고    scopus 로고
    • Genotype-phenotype relationship in female carriers of the premutation and full mutation of FMR-1
    • Franke P, Leboyer M, Gansicke M et al. Genotype-phenotype relationship in female carriers of the premutation and full mutation of FMR-1. Psychiatry Res 1998: 80: 113-127.
    • (1998) Psychiatry Res. , vol.80 , pp. 113-127
    • Franke, P.1    Leboyer, M.2    Gansicke, M.3
  • 19
    • 0031978146 scopus 로고    scopus 로고
    • Phenotypic involvement in females with the FMR1 gene mutation
    • Riddle JE, Cheema A, Sobesky WE et al. Phenotypic involvement in females with the FMR1 gene mutation. Am J Ment Retard 1998: 102: 590-601.
    • (1998) Am. J. Ment. Retard. , vol.102 , pp. 590-601
    • Riddle, J.E.1    Cheema, A.2    Sobesky, W.E.3
  • 20
    • 0035500835 scopus 로고    scopus 로고
    • Neurobehavioral phenotype in carriers of fragile X permutation
    • Johnston C, Eliez S, Dyer-Friedman J et al. Neurobehavioral phenotype in carriers of fragile X permutation. Am J Med Genet 2001: 103: 314-319.
    • (2001) Am. J. Med. Genet. , vol.103 , pp. 314-319
    • Johnston, C.1    Eliez, S.2    Dyer-Friedman, J.3
  • 21
    • 0038162524 scopus 로고    scopus 로고
    • Relationship of deficits of FMR1 gene specific protein with physical phenotype of fragile X males and females in pedigrees: A new perspective
    • Loesch DZ, Huggins RM, Bui QM et al. Relationship of deficits of FMR1 gene specific protein with physical phenotype of fragile X males and females in pedigrees: a new perspective. Am J Med Genet 2003a: 118A (2): 127-134.
    • (2003) Am. J. Med. Genet. , vol.118 A , Issue.2 , pp. 127-134
    • Loesch, D.Z.1    Huggins, R.M.2    Bui, Q.M.3
  • 22
    • 0041317041 scopus 로고    scopus 로고
    • Effect of the fragile X status categories on cognitive profiles of fragile X males and females assessed by robust pedigree analysis
    • Loesch DZ, Huggins RM, Butler E et al. Effect of the fragile X status categories on cognitive profiles of fragile X males and females assessed by robust pedigree analysis. Am J Med Genet 2003b: 122A: 13-23.
    • (2003) Am. J. Med. Genet. , vol.122 A , pp. 13-23
    • Loesch, D.Z.1    Huggins, R.M.2    Butler, E.3
  • 23
    • 0033515496 scopus 로고    scopus 로고
    • Fragile X premutation is a significant risk factor for premature ovarian failure. The international collaborative POF in fragile X study - Preliminary data
    • Allingham-Hawkins DJ, Babul-Hirji R, Chitayat D et al. Fragile X premutation is a significant risk factor for premature ovarian failure. The international collaborative POF in fragile X study - preliminary data. Am J Med Genet 1999: 83: 322-325.
    • (1999) Am. J. Med. Genet. , vol.83 , pp. 322-325
    • Allingham-Hawkins, D.J.1    Babul-Hirji, R.2    Chitayat, D.3
  • 24
    • 0035838379 scopus 로고    scopus 로고
    • Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
    • Hagerman RJ, Leehey M, Heinrichs W et al. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 2001: 57: 127-130.
    • (2001) Neurology , vol.57 , pp. 127-130
    • Hagerman, R.J.1    Leehey, M.2    Heinrichs, W.3
  • 25
    • 0033069502 scopus 로고    scopus 로고
    • Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large ethnically diverse, special education-needs population
    • Crawford DC, Meadows KL, Newman JL et al. Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large ethnically diverse, special education-needs population. Am J Hum Genet 1999: 64: 495-507.
    • (1999) Am. J. Hum. Genet. , vol.64 , pp. 495-507
    • Crawford, D.C.1    Meadows, K.L.2    Newman, J.L.3
  • 26
    • 0033612237 scopus 로고    scopus 로고
    • Frequencies of 'grey-zone' and premutation-sized FMR1 CGG-repeat alleles in patients with developmental disability in Cyprus and Canada
    • Patsalis PC, Sismani C, Hettinger JA et al. Frequencies of 'grey-zone' and premutation-sized FMR1 CGG-repeat alleles in patients with developmental disability in Cyprus and Canada. Am J Med Genet 1999: 84: 195-197.
    • (1999) Am. J. Med. Genet. , vol.84 , pp. 195-197
    • Patsalis, P.C.1    Sismani, C.2    Hettinger, J.A.3
  • 27
    • 0029977269 scopus 로고    scopus 로고
    • Population screening at the FRAXA and FRAXE loci: Molecular analysis of boys with learning difficulties and their mothers
    • Murray A, Youings S, Dennis N et al. Population screening at the FRAXA and FRAXE loci: molecular analysis of boys with learning difficulties and their mothers. Hum Mol Genet 1996: 5: 727-735.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 727-735
    • Murray, A.1    Youings, S.2    Dennis, N.3
  • 28
    • 0033612250 scopus 로고    scopus 로고
    • Fully mutated and gray-zone FRAXA alleles in Brazilian mentally retarded boys
    • Haddad LA, Aguiar MJ, Costa SS et al. Fully mutated and gray-zone FRAXA alleles in Brazilian mentally retarded boys. Am J Med Genet 1999: 84: 198-201.
    • (1999) Am. J. Med. Genet. , vol.84 , pp. 198-201
    • Haddad, L.A.1    Aguiar, M.J.2    Costa, S.S.3
  • 29
    • 0031297825 scopus 로고    scopus 로고
    • The FMR1 and FMR2 mutations are not common etiologies of academic difficulty among school age children
    • Mazzocco MM, Sonna NL, Teisl JT et al. The FMR1 and FMR2 mutations are not common etiologies of academic difficulty among school age children. J Dev Behav Pediatr 1997: 18: 392-398.
    • (1997) J. Dev. Behav. Pediatr. , vol.18 , pp. 392-398
    • Mazzocco, M.M.1    Sonna, N.L.2    Teisl, J.T.3
  • 30
    • 0031802658 scopus 로고    scopus 로고
    • The prevalence of the FMR1 and FMR2 mutations among preschool children with language delay
    • Mazzocco MM, Myers GF, Hamner JL et al. The prevalence of the FMR1 and FMR2 mutations among preschool children with language delay. J Pediatr 1998: 132: 795-801.
    • (1998) J. Pediatr. , vol.132 , pp. 795-801
    • Mazzocco, M.M.1    Myers, G.F.2    Hamner, J.L.3
  • 31
    • 0031943544 scopus 로고    scopus 로고
    • The intermediate alleles of the fragile X CGG repeat in patients with mental retardation
    • [abstract]
    • Mornet E, Simon-Bouy B, Serre JL. The intermediate alleles of the fragile X CGG repeat in patients with mental retardation. Clin Genet 1998: 53: 200-201. [abstract]
    • (1998) Clin. Genet. , vol.53 , pp. 200-201
    • Mornet, E.1    Simon-Bouy, B.2    Serre, J.L.3
  • 32
    • 0033817364 scopus 로고    scopus 로고
    • Detection of the fragile X syndrome protein for the evaluation of FMR1 intermediate alleles
    • Castellvi-Bel S, Fernandez-Burriel M, Rife M et al. Detection of the fragile X syndrome protein for the evaluation of FMR1 intermediate alleles. Hum Genet 2000: 107: 195-196.
    • (2000) Hum. Genet. , vol.107 , pp. 195-196
    • Castellvi-Bel, S.1    Fernandez-Burriel, M.2    Rife, M.3
  • 33
    • 0035394437 scopus 로고    scopus 로고
    • Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate length and premutation carriers
    • Kenneson A, Zhang F, Hagedorn CH et al. Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate length and premutation carriers. Hum Mol Genet 2001: 10: 1449-1454.
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 1449-1454
    • Kenneson, A.1    Zhang, F.2    Hagedorn, C.H.3
  • 34
    • 18344385134 scopus 로고    scopus 로고
    • Genetic dissection of the human leucocyte antigen region by use of haplotypes of Tasmanians with multiple sclerosis
    • Rubio JP, Bahlo M, Butzkueven H et al. Genetic dissection of the human leucocyte antigen region by use of haplotypes of Tasmanians with multiple sclerosis. Am J Hum Genet 2002: 70: 1125-1137.
    • (2002) Am. J. Hum. Genet. , vol.70 , pp. 1125-1137
    • Rubio, J.P.1    Bahlo, M.2    Butzkueven, H.3
  • 35
    • 0029996850 scopus 로고    scopus 로고
    • Fragile X founder effects and new mutations in Finland
    • Zhong N, Kajanoja E, Smits B et al. Fragile X founder effects and new mutations in Finland. Am J Med Genet 1996a: 64: 226-233.
    • (1996) Am. J. Med. Genet. , vol.64 , pp. 226-233
    • Zhong, N.1    Kajanoja, E.2    Smits, B.3
  • 36
    • 0027793747 scopus 로고
    • Striking founder effect for the fragile X syndrome in Finland
    • Oudet C, Koskull H, Nordstrom AM et al. Striking founder effect for the fragile X syndrome in Finland. Eur J Hum Genet 1993a: 1: 181-189.
    • (1993) Eur. J. Hum. Genet. , vol.1 , pp. 181-189
    • Oudet, C.1    Koskull, H.2    Nordstrom, A.M.3
  • 38
    • 0026316183 scopus 로고
    • Fragile X syndrome: Genetic localization by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site
    • Richards RI, Holman K, Kozman H et al. Fragile X syndrome: genetic localization by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site. J Med Genet 1991: 28: 818-823.
    • (1991) J. Med. Genet. , vol.28 , pp. 818-823
    • Richards, R.I.1    Holman, K.2    Kozman, H.3
  • 39
    • 7844247606 scopus 로고    scopus 로고
    • Re-examination of factors associated with expansion of CGG repeat using a single nucleotide polymorphism in FMR1
    • Gunter C, Paradee W, Crawford W et al. Re-examination of factors associated with expansion of CGG repeat using a single nucleotide polymorphism in FMR1. Hum Mol Genet 1998: 77: 1935-1946.
    • (1998) Hum. Mol. Genet. , vol.77 , pp. 1935-1946
    • Gunter, C.1    Paradee, W.2    Crawford, W.3
  • 40
    • 0030008960 scopus 로고    scopus 로고
    • Fragile X 'gray' zone alleles: AGG patterns, expansion risks, and associated haplotypes
    • Zhong N, Ju W, Pietrofesa J et al. Fragile X 'gray' zone alleles: AGG patterns, expansion risks, and associated haplotypes. Am J Hum Genet 1996: 64: 261-265.
    • (1996) Am. J. Hum. Genet. , vol.64 , pp. 261-265
    • Zhong, N.1    Ju, W.2    Pietrofesa, J.3
  • 41
    • 85085786590 scopus 로고    scopus 로고
    • A haplotype study of grey zone alleles at the fragile X (FMR1) gene: ATL1, FMRb and microsatellite haplotypes differ from those found in common FMR1 alleles
    • (in press)
    • Curlis Y, Zhang C, Holden JJA et al. A haplotype study of grey zone alleles at the fragile X (FMR1) gene: ATL1, FMRb and microsatellite haplotypes differ from those found in common FMR1 alleles. Hum Biol (in press).
    • Hum. Biol.
    • Curlis, Y.1    Zhang, C.2    Holden, J.J.A.3
  • 42
    • 0029931538 scopus 로고    scopus 로고
    • A rapid, reliable, and inexpensive method for the detection of di- and trinucleotide repeat markers and disease loci from dried blood spots
    • Holden JJA, Chalifoux M, Wing M et al. A rapid, reliable, and inexpensive method for the detection of di- and trinucleotide repeat markers and disease loci from dried blood spots. Am J Med Genet 1996: 64: 313-318.
    • (1996) Am. J. Med. Genet. , vol.64 , pp. 313-318
    • Holden, J.J.A.1    Chalifoux, M.2    Wing, M.3
  • 43
    • 0026347628 scopus 로고
    • Fragile X genotype characterized by an unstable region of DNA
    • Yu S, Pritchard M, Kremer E et al. Fragile X genotype characterized by an unstable region of DNA. Science 1991: 252: 1179-1181.
    • (1991) Science , vol.252 , pp. 1179-1181
    • Yu, S.1    Pritchard, M.2    Kremer, E.3
  • 44
    • 0027416537 scopus 로고
    • Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a mall number of founder chromosomes
    • Oudet C, Mornet E, Serre JL et al. Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a mall number of founder chromosomes. Am J Hum Genet 1993b: 52: 297-304.
    • (1993) Am. J. Hum. Genet. , vol.52 , pp. 297-304
    • Oudet, C.1    Mornet, E.2    Serre, J.L.3
  • 45
    • 0033515541 scopus 로고    scopus 로고
    • DNA panel for interlaboratory standardization of haplotype studies on the fragile X syndrome and proposal for a new nomenclature
    • Chiurazzi P, Pomponi MG, Sharrock A et al. DNA panel for interlaboratory standardization of haplotype studies on the fragile X syndrome and proposal for a new nomenclature. Am J Med Genet 1999: 83: 347-349.
    • (1999) Am. J. Med. Genet. , vol.83 , pp. 347-349
    • Chiurazzi, P.1    Pomponi, M.G.2    Sharrock, A.3
  • 47
    • 0019784895 scopus 로고
    • Gm and Km allotypes in Tasmania
    • Mitchell RJ, Izatt MM. Gm and Km allotypes in Tasmania. Human Biol 1981: 53: 467-477.
    • (1981) Human Biol. , vol.53 , pp. 467-477
    • Mitchell, R.J.1    Izatt, M.M.2
  • 48
    • 0020624952 scopus 로고
    • Red cell antigen, plasma protein, and red cell enzyme polymorphism in the island of Tasmania
    • Mitchell RJ. Red cell antigen, plasma protein, and red cell enzyme polymorphism in the island of Tasmania. Human Heredity 1983: 33: 181-184.
    • (1983) Human Heredity , vol.33 , pp. 181-184
    • Mitchell, R.J.1
  • 49
    • 12744275261 scopus 로고
    • Historical demography and genetic structure of Tasmania
    • (King H ed). Canberra: Brolga Press
    • Mitchell RJ, Kosten M, Williams J. Historical demography and genetic structure of Tasmania. In: Epidemiology in Tasmania (King H ed). Canberra: Brolga Press, 1987: 1-21.
    • (1987) Epidemiology in Tasmania , pp. 1-21
    • Mitchell, R.J.1    Kosten, M.2    Williams, J.3
  • 50
    • 0029934242 scopus 로고    scopus 로고
    • Prenatal diagnosis and carrier screening for fragile X by PCR
    • Brown WT, Nolin S, Houck G Jr et al. Prenatal diagnosis and carrier screening for fragile X by PCR. Am J Med Genet 1996: 64: 191-195.
    • (1996) Am. J. Med. Genet. , vol.64 , pp. 191-195
    • Brown, W.T.1    Nolin, S.2    Houck Jr., G.3
  • 51
    • 0029556239 scopus 로고
    • Distribution and frequency of FMR1 CGG repeat numbers in the general population
    • Holden JJA, Chalifaux M, Wing M et al. Distribution and frequency of FMR1 CGG repeat numbers in the general population. Dev Brain Dysfunct 1995: 8: 405-407.
    • (1995) Dev. Brain Dysfunct. , vol.8 , pp. 405-407
    • Holden, J.J.A.1    Chalifaux, M.2    Wing, M.3
  • 52
    • 0028858268 scopus 로고
    • Frequency of FMR1 premutations in a consecutive newborn population by PCR screening of Guthrie blood spots
    • Dawson AJ, Chodirker BN, Chudley AE. Frequency of FMR1 premutations in a consecutive newborn population by PCR screening of Guthrie blood spots. Biochem Mol Med 1995: 56: 63-69.
    • (1995) Biochem. Mol. Med. , vol.56 , pp. 63-69
    • Dawson, A.J.1    Chodirker, B.N.2    Chudley, A.E.3
  • 53
    • 1042301290 scopus 로고    scopus 로고
    • Incidence of fragile X consecutive newborn males
    • Rife M, Badenas C, Mallolas J et al. Incidence of fragile X consecutive newborn males. Genet Test 2003: 7: 339-343.
    • (2003) Genet. Test , vol.7 , pp. 339-343
    • Rife, M.1    Badenas, C.2    Mallolas, J.3
  • 54
    • 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 EE, Macpherson JN, Murray A et al. 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 1996: 5: 319-330.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 319-330
    • Eichler, E.E.1    Macpherson, J.N.2    Murray, A.3
  • 56
    • 0028307307 scopus 로고
    • Prevalence of fra(X) in the county of Funen in Denmark is lower than expected
    • Tranebjaerg L, Hilling S, Jessen J et al. Prevalence of fra(X) in the county of Funen in Denmark is lower than expected. Am J Med Genet 1994: 51: 423-427.
    • (1994) Am. J. Med. Genet. , vol.51 , pp. 423-427
    • Tranebjaerg, L.1    Hilling, S.2    Jessen, J.3
  • 58
    • 8044254656 scopus 로고    scopus 로고
    • The role of size, sequence and haplotype in the stability of FRAXA and FRAXE alleles during transmission
    • Murray A, Macpherson JN, Pound MC et al. The role of size, sequence and haplotype in the stability of FRAXA and FRAXE alleles during transmission. Hum Mol Genet 1997: 6: 173-184.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 173-184
    • Murray, A.1    MacPherson, J.N.2    Pound, M.C.3
  • 59
    • 0036091566 scopus 로고    scopus 로고
    • Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range
    • Sullivan AK, Crawford DC, Scott EH et al. Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range. Am J Hum Genet 2002: 70: 1532-1544.
    • (2002) Am. J. Hum. Genet. , vol.70 , pp. 1532-1544
    • Sullivan, A.K.1    Crawford, D.C.2    Scott, E.H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.