메뉴 건너뛰기




Volumn 5, Issue 6, 1996, Pages 727-735

Population screening at the FRAXA and FRAXE loci: Molecular analyses of boys with learning difficulties and their mothers

Author keywords

[No Author keywords available]

Indexed keywords

MICROSATELLITE DNA; REPETITIVE DNA; TRINUCLEOTIDE;

EID: 0029977269     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.6.727     Document Type: Article
Times cited : (144)

References (48)
  • 4
    • 0027176361 scopus 로고
    • The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a Fragile X premutation
    • Devys, D., Lutz, Y., Rouyer, N., Bellocq, J.P. and Mandel, J.L. (1993) The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a Fragile X premutation. Nature Genet., 4, 335-340.
    • (1993) Nature Genet. , vol.4 , pp. 335-340
    • Devys, D.1    Lutz, Y.2    Rouyer, N.3    Bellocq, J.P.4    Mandel, J.L.5
  • 5
    • 0028979161 scopus 로고
    • Quantitative comparison of FMRI gene expression in normal and premutation alleles
    • Feng, Y., Lakkis, L., Devys, D. and Warren, ST. (1995) Quantitative comparison of FMRI gene expression in normal and premutation alleles. Am. J. Hum. Genet., 56, 106-113.
    • (1995) Am. J. Hum. Genet. , vol.56 , pp. 106-113
    • Feng, Y.1    Lakkis, L.2    Devys, D.3    Warren, S.T.4
  • 9
    • 0026865445 scopus 로고
    • Characterisation of a new rare fragile site easily confused with the fragile X
    • Sutherland, G.R. and Baker, E. (1992) Characterisation of a new rare fragile site easily confused with the fragile X. Hum. Mol. Genet., 1, 111-113.
    • (1992) Hum. Mol. Genet. , vol.1 , pp. 111-113
    • Sutherland, G.R.1    Baker, E.2
  • 12
    • 0028937577 scopus 로고
    • Overlapping submicroscopic deletions in Xq28 in two unrelated boys with developmental disorders: Identification of a gene near FRAXE
    • Gedeon, A.K., Keinänen, M., Adès, L.C., Kääriäinen, H., Gécz, J., Baker, E., Sutherland, G.R. and Mulley, J.C. (1995) Overlapping submicroscopic deletions in Xq28 in two unrelated boys with developmental disorders: identification of a gene near FRAXE. Am. J. Hum. Genet., 56, 907-914.
    • (1995) Am. J. Hum. Genet. , vol.56 , pp. 907-914
    • Gedeon, A.K.1    Keinänen, M.2    Adès, L.C.3    Kääriäinen, H.4    Gécz, J.5    Baker, E.6    Sutherland, G.R.7    Mulley, J.C.8
  • 15
    • 0026777140 scopus 로고
    • Two families with Xq27.3 fragility, no detectable insert in the FMR-I gene, mild mental impairment and absence of the Martin Bell phenotype
    • Dennis, N.R., Curtis, G., Macpherson, J.N. and Jacobs, P.A. (1992) Two families with Xq27.3 fragility, no detectable insert in the FMR-I gene, mild mental impairment and absence of the Martin Bell phenotype. Am. J. Med. Genet., 43, 232-236.
    • (1992) Am. J. Med. Genet. , vol.43 , pp. 232-236
    • Dennis, N.R.1    Curtis, G.2    Macpherson, J.N.3    Jacobs, P.A.4
  • 18
    • 0025091643 scopus 로고
    • X-chromosome imprinting in Fragile-X syndrome
    • Yu, W.D., Wenger, S.L. and Steele, M.W. (1990) X-chromosome imprinting in Fragile-X syndrome. Hum. Genet., 85, 590-594.
    • (1990) Hum. Genet. , vol.85 , pp. 590-594
    • Yu, W.D.1    Wenger, S.L.2    Steele, M.W.3
  • 21
    • 0022595514 scopus 로고
    • Population incidence and segregation ratios in the Martin-Bell syndrome
    • Webb, T.P., Bundey, S.E., Thank, A.I. and Todd, J. (1986) Population incidence and segregation ratios in the Martin-Bell syndrome. Am. J. Med. Genet., 23, 573-580.
    • (1986) Am. J. Med. Genet. , vol.23 , pp. 573-580
    • Webb, T.P.1    Bundey, S.E.2    Thank, A.I.3    Todd, J.4
  • 23
    • 0029029547 scopus 로고
    • FRAXE expansion is not a common etiological factor among developmentally delayed males
    • Allingham-Hawkins, D.J. and Ray, P.N. (1995) FRAXE expansion is not a common etiological factor among developmentally delayed males. Am. J. Hum. Genet., 57, 72-77.
    • (1995) Am. J. Hum. Genet. , vol.57 , pp. 72-77
    • Allingham-Hawkins, D.J.1    Ray, P.N.2
  • 25
    • 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 small number of founder chromosomes
    • Oudet, C., Mornet, E., Serre, J.L., Thomas, F., Lenteszengerling, S., Kretz, C., Deluchat, C., Tejada, I., Boué, J., Boue, A. and Mandel, J.L. (1993) Linkage disequilibrium between the fragile-X mutation and two closely linked CA repeats suggests that fragile-X chromosomes are derived from a small number of founder chromosomes. Am. J. Hum. Genet., 52, 297-304.
    • (1993) Am. J. Hum. Genet. , vol.52 , pp. 297-304
    • Oudet, C.1    Mornet, E.2    Serre, J.L.3    Thomas, F.4    Lenteszengerling, S.5    Kretz, C.6    Deluchat, C.7    Tejada, I.8    Boué, J.9    Boue, A.10    Mandel, J.L.11
  • 26
    • 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., Bullman, H., Youings, S.A. and Jacobs, P.A. (1994) Insert size and flanking haplotype in fragile X and normal populations - possible multiple origins for the fragile X mutation. Hum. Mol. Genet., 3, 399-405.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 399-405
    • Macpherson, J.N.1    Bullman, H.2    Youings, S.A.3    Jacobs, P.A.4
  • 33
    • 0028799833 scopus 로고
    • Prevalence of carriers of premutation-size alleles of the FMR1 gene - And implications for the population genetics of the Fragile X syndrome
    • Rousseau, F., Rouillard, P., Morel, M.-L., Khandjian, E.W. and Morgan, K. (1995) Prevalence of carriers of premutation-size alleles of the FMR1 gene - and implications for the population genetics of the Fragile X syndrome. Am. J. Hum. Genet., 57, 1006-1018.
    • (1995) Am. J. Hum. Genet. , vol.57 , pp. 1006-1018
    • Rousseau, F.1    Rouillard, P.2    Morel, M.-L.3    Khandjian, E.W.4    Morgan, K.5
  • 35
    • 0027482074 scopus 로고
    • Neurobehavioural effects of the fragile X premutation in adult women: A controlled study
    • Reiss, A.L., Freund, L., Abrams, M.T., Boehm, C. and Kazazian, H. (1993) Neurobehavioural effects of the fragile X premutation in adult women: a controlled study. Am. J. Hum. Genet., 52, 884-894.
    • (1993) Am. J. Hum. Genet. , vol.52 , pp. 884-894
    • Reiss, A.L.1    Freund, L.2    Abrams, M.T.3    Boehm, C.4    Kazazian, H.5
  • 37
    • 0029097960 scopus 로고
    • Fragile X premutations in familial premature ovarian failure
    • Conway, G.S., Hettiarachchi, S., Murray, A. and Jacobs, P.A. (1995) Fragile X premutations in familial premature ovarian failure. Lancet, 346, 309-310.
    • (1995) Lancet , vol.346 , pp. 309-310
    • Conway, G.S.1    Hettiarachchi, S.2    Murray, A.3    Jacobs, P.A.4
  • 38
    • 0027985106 scopus 로고
    • Dizygous twinning and premature menopause in Fragile X syndrome
    • Turner, G., Robinson, H., Wake, S. and Martin, N. (1994) Dizygous twinning and premature menopause in Fragile X syndrome. Lancet, 344, 1500-1500.
    • (1994) Lancet , vol.344 , pp. 1500-1500
    • Turner, G.1    Robinson, H.2    Wake, S.3    Martin, N.4
  • 39
    • 0028237298 scopus 로고
    • Comparison between the cy togenetic test for Fragile X and the molecular analysis of the FMR-1 gene in Japanese mentally retarded individuals
    • Hofstee, Y., Arinami, T. and Hamaguchi, H. (1994) Comparison between the cy togenetic test for Fragile X and the molecular analysis of the FMR-1 gene in Japanese mentally retarded individuals. Am. J. Med. Genet., 51, 466-470.
    • (1994) Am. J. Med. Genet. , vol.51 , pp. 466-470
    • Hofstee, Y.1    Arinami, T.2    Hamaguchi, H.3
  • 40
    • 0029074181 scopus 로고
    • n oligonucleotides in solution and their possible relevance to fragile X and related human genetic diseases
    • n oligonucleotides in solution and their possible relevance to fragile X and related human genetic diseases. Nucleic Acids Res., 23, 1876-1881.
    • (1995) Nucleic Acids Res. , vol.23 , pp. 1876-1881
    • Mitchell, J.E.1    Newbury, S.F.2    McClellan, J.A.3
  • 41
    • 0029053371 scopus 로고
    • Trinucleotide repeats that expand in human disease form hairpin structures in vitro
    • Gacy, A.M., Goellner, G., Juranic, N., Macura, S. and McMurray, C.T. (1995) Trinucleotide repeats that expand in human disease form hairpin structures in vitro. Cell, 81, 533-540.
    • (1995) Cell , vol.81 , pp. 533-540
    • Gacy, A.M.1    Goellner, G.2    Juranic, N.3    Macura, S.4    McMurray, C.T.5
  • 42
    • 0028886722 scopus 로고
    • Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptions
    • Eichler, E.E., Hammond, H.A., Macpherson, J.N., Ward, P.A. and Nelson, D.L. (1995) Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptions. Hum. Mol. Genet., 4, 2199-2208.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 2199-2208
    • Eichler, E.E.1    Hammond, H.A.2    Macpherson, J.N.3    Ward, P.A.4    Nelson, D.L.5
  • 43
    • 0028074287 scopus 로고
    • Sequence analysis of the fragile X trinucleotide repeat: Implications for the origin of the fragile X mutation
    • Snow, K., Tester, D.J., Kruckeberg, K.E., Schaid. D.J. and Thibodeau, S.N. (1994) Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation. Hum. Mol. Genet., 3, 1543-1551.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 1543-1551
    • Snow, K.1    Tester, D.J.2    Kruckeberg, K.E.3    Schaid, D.J.4    Thibodeau, S.N.5
  • 45
    • 0028360849 scopus 로고
    • Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles
    • Kunst, C.B. and Warren, S.T. (1994) Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles. Cell, 77, 853-861.
    • (1994) Cell , vol.77 , pp. 853-861
    • Kunst, C.B.1    Warren, S.T.2
  • 46
    • 0028567730 scopus 로고
    • The cloning of FRAXF: Trinucleotide repeat expansion and methylation at a third fragile site in distal Xqter
    • Ritchie, R.J., Knight, S.J.L., Hirst, M.C., Grewal, P.K., Bobrow, M., Cross, O.S. and Davies, K.E. (1994) The cloning of FRAXF: trinucleotide repeat expansion and methylation at a third fragile site in distal Xqter. Hum. Mol. Genet., 3, 2115-2121.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 2115-2121
    • Ritchie, R.J.1    Knight, S.J.L.2    Hirst, M.C.3    Grewal, P.K.4    Bobrow, M.5    Cross, O.S.6    Davies, K.E.7
  • 48
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller, S.A., Dykes, D.D. and Polesky, H.F. (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res., 16, 1215-1215.
    • (1988) Nucleic Acids Res. , vol.16 , pp. 1215-1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.