-
1
-
-
19944427215
-
AGG interspersion patterns in the CGG repeat of the FMR1 gene and linked DSX548/FRAXACA1 haplotypes in Brazilian populations
-
Angeli C. B., Capelli L. P., Auricchio M. T., Leal-Mesquita E. R., Ribeiro-dos-Santos K., Ferrari I. et al. 2005 AGG interspersion patterns in the CGG repeat of the FMR1 gene and linked DSX548/FRAXACA1 haplotypes in Brazilian populations. Am. J. Med. Genet. 132, 210-214.
-
(2005)
Am. J. Med. Genet.
, vol.132
, pp. 210-214
-
-
Angeli, C.B.1
Capelli, L.P.2
Auricchio, M.T.3
Leal-Mesquita, E.R.4
Ribeiro-dos-Santos, K.5
Ferrari, I.6
-
2
-
-
0030610425
-
The identification of a (CGG)6AGG insertion within the CGG repeat of the FMR1 gene in Asians
-
Chen S. H., Schoof J., Buroker N. E. and Scott C. R. 1997 The identification of a (CGG)6AGG insertion within the CGG repeat of the FMR1 gene in Asians. Hum. Genet. 99, 793-795.
-
(1997)
Hum. Genet.
, vol.99
, pp. 793-795
-
-
Chen, S.H.1
Schoof, J.2
Buroker, N.E.3
Scott, C.R.4
-
3
-
-
0033942734
-
Survey of the fragile X syndrome CGG repeat and the short-tandem repeat and single-nucleotide-polymorphism haplotypes in an African-American population
-
Crawford D. C., Schwartz C. E., Meadows K. L., Newman J. L., Taft L. F., Gunter C. et al. 2000 Survey of the fragile X syndrome CGG repeat and the short-tandem repeat and single-nucleotide-polymorphism haplotypes in an African-American population. Am. J. Hum. Genet. 66, 480-493.
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 480-493
-
-
Crawford, D.C.1
Schwartz, C.E.2
Meadows, K.L.3
Newman, J.L.4
Taft, L.F.5
Gunter, C.6
-
4
-
-
0028886722
-
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
-
5
-
-
34247637636
-
Regional FMRP deficits and large repeat expansions into the full mutation range in a new fragile X permutation mouse model
-
Entezam A., Biacsi R., Orrison B., Saha T., Hoffman G. E., Grabczyk E. et al. 2007 Regional FMRP deficits and large repeat expansions into the full mutation range in a new fragile X permutation mouse model. Gene 395, 125-134.
-
(2007)
Gene
, vol.395
, pp. 125-134
-
-
Entezam, A.1
Biacsi, R.2
Orrison, B.3
Saha, T.4
Hoffman, G.E.5
Grabczyk, E.6
-
6
-
-
0026345716
-
Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox
-
Fu Y. H., Kuhl D. P., Pizzuti A., Pieretti M., Sutcliffe J. S., Richards S. et al. 1991 Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67, 1047-1058.
-
(1991)
Cell
, vol.67
, pp. 1047-1058
-
-
Fu, Y.H.1
Kuhl, D.P.2
Pizzuti, A.3
Pieretti, M.4
Sutcliffe J.S5
Richards, S.6
-
9
-
-
19144367229
-
FMR1 in global populations
-
Kunst C. B., Zerylnick C., Karickhoff L., Eichler E., Bullard J., Chalifoux M. et al. 1996 FMR1 in global populations. Am. J. Hum. Genet. 58, 513-522.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 513-522
-
-
Kunst, C.B.1
Zerylnick, C.2
Karickhoff, L.3
Eichler, E.4
Bullard, J.5
Chalifoux, M.6
-
10
-
-
0034679873
-
Haplotype and AGG-interspersion analysis of FMR1 (CGG)n alleles in the Danish population
-
Larsen L. A., Armstrong J. S., Gronskov K., Hjalgrim H., Macpherson J. N., Brondum-Nielsen K. et al. 2000 Haplotype and AGGi-nterspersion analysis of FMR1 (CGG)n alleles in the Danish population. Am. J. Med. Genet. 93, 99-106.
-
(2000)
Am. J. Med. Genet.
, vol.93
, pp. 99-106
-
-
Larsen, L.A.1
Armstrong, J.S.2
Gronskov, K.3
Hjalgrim, H.4
Macpherson, J.N.5
Brondum-Nielsen, K.6
-
11
-
-
2542583041
-
Fragile X mental retardation syndrome: from pathogenesis to diagnostic issues
-
Mandel J. L. and Biancalana V. 2004 Fragile X mental retardation syndrome: from pathogenesis to diagnostic issues. Growth Horm. IGF Res. 14, 158-165.
-
(2004)
Growth Horm. IGF Res.
, vol.14
, pp. 158-165
-
-
Mandel, J.L.1
Biancalana, V.2
-
12
-
-
3042725471
-
A new insight into fragile X syndrome among Basque population
-
Penagarikano O., Gil A., Telez M., Ortega B., Flores P., Veiga I. et al. 2004 A new insight into fragile X syndrome among Basque population. Am. J. Med. Genet. 128, 250-255.
-
(2004)
Am. J. Med. Genet.
, vol.128
, pp. 250-255
-
-
Penagarikano, O.1
Gil, A.2
Telez, M.3
Ortega, B.4
Flores, P.5
Veiga, I.6
-
13
-
-
12944300322
-
Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotype
-
Tzeng C. C., Tsai L. P., Hwu W. L., Lin S. J., Chao M. C., Jong Y. J. et al. 2005 Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotype. Am. J. Med. Genet. 133, 37-43.
-
(2005)
Am. J. Med. Genet.
, vol.133
, pp. 37-43
-
-
Tzeng, C.C.1
Tsai, L.P.2
Hwu, W.L.3
Lin, S.J.4
Chao, M.C.5
Jong, Y.J.6
-
14
-
-
0026347628
-
Fragile X genotype characterized by an unstable region of DNA
-
Yu S., Pritchard M., Kremer E., Lynch M., Nancarrow J., Baker E. et al. 1991 Fragile X genotype characterized by an unstable region of DNA. Science 252, 1179-1181.
-
(1991)
Science
, vol.252
, pp. 1179-1181
-
-
Yu, S.1
Pritchard, M.2
Kremer, E.3
Lynch, M.4
Nancarrow, J.5
Baker, E.6
-
15
-
-
0029017085
-
Fragile X instability: anchoring AGGs and linked microsatellites
-
Zhong N., Yang W., Dobkin C. and Brown W. T. 1995 Fragile X instability: anchoring AGGs and linked microsatellites. Am. J. Hum. Genet. 57, 351-361.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 351-361
-
-
Zhong, N.1
Yang, W.2
Dobkin, C.3
Brown, W.T.4
|