-
1
-
-
0028365522
-
Robust amplification and ethidium visible detection of the fragile X syndrome CGG repeat using Pfu polimerase
-
Chong SS, Eichler EE, Nelson DL and Hughes MR, (1994). Robust amplification and ethidium visible detection of the fragile X syndrome CGG repeat using Pfu polimerase. Am. J. Med. Genet. 51: 522-526.
-
(1994)
Am. J. Med. Genet.
, vol.51
, pp. 522-526
-
-
Chong, S.S.1
Eichler, E.E.2
Nelson, D.L.3
Hughes, M.R.4
-
2
-
-
0028886722
-
Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptions
-
Eichler EE, Hammond HA, MacPherson JN, Ward PA and Nelson DL, (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
-
3
-
-
0026345716
-
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, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJM, Holden JJA, Fenwick RG, Warren ST, Oostra BA, Nelson DL and Caskey CT, (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.A.2
Pizzuti, A.3
Pieretti, M.4
Sutcliffe, J.S.5
Richards, S.6
Verkerk, A.J.M.7
Holden, J.J.A.8
Fenwick, R.G.9
Warren, S.T.10
Oostra, B.A.11
Nelson, D.L.12
Caskey, C.T.13
-
4
-
-
19144367229
-
FMR1 in global populations
-
Kunst CB, Zerylnick C, Karickhoff L, Eichler E, Bullard J, Chalifoux M, Holder JJA, Torroni A, Nelson DL and Warren ST, (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
Holder, J.J.A.7
Torroni, A.8
Nelson, D.L.9
Warren, S.T.10
-
5
-
-
0030883802
-
Fixed bin population data for the VNTR loci D1S7, D2S44, D4S139, D5S110, S10S28, and D14S13 in a population sample from Rio de Janeiro, Brazil
-
Moura-Neto RS and Budowle B, (1997). Fixed bin population data for the VNTR loci D1S7, D2S44, D4S139, D5S110, S10S28, and D14S13 in a population sample from Rio de Janeiro, Brazil. J. Forensic Sci. 42: 926-928.
-
(1997)
J. Forensic Sci.
, vol.42
, pp. 926-928
-
-
Moura-Neto, R.S.1
Budowle, B.2
-
6
-
-
0028809518
-
Complex behavior of simple repeats: The fragile X syndrome
-
Oostra BA and Halley DJJ, (1995). Complex behavior of simple repeats: The fragile X syndrome. Pediat. Res. 38: 629-637.
-
(1995)
Pediat. Res.
, vol.38
, pp. 629-637
-
-
Oostra, B.A.1
Halley, D.J.J.2
-
8
-
-
0028141919
-
A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB 12.3: The first 2,253 cases
-
Rousseau F, Heitz D, Tarleton J, MacPherson J, Malmgren H, Dahl N, Barnicoat A, Mathew C, Mornet E, Tejada I, Maddalena A, Spiegel R, Schinzel A, Marcos JAG, Schorderet DF, Schaap T, Maccioni L, Russo S, Jacobs PA, Schwartz C and Mandel JL, (1994). A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB 12.3: The first 2,253 cases. Am. J. Hum. Genet. 55: 225-237.
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 225-237
-
-
Rousseau, F.1
Heitz, D.2
Tarleton, J.3
MacPherson, J.4
Malmgren, H.5
Dahl, N.6
Barnicoat, A.7
Mathew, C.8
Mornet, E.9
Tejada, I.10
Maddalena, A.11
Spiegel, R.12
Schinzel, A.13
Marcos, J.A.G.14
Schorderet, D.F.15
Schaap, T.16
Maccioni, L.17
Russo, S.18
Jacobs, P.A.19
Schwartz, C.20
Mandel, J.L.21
more..
-
9
-
-
0032496718
-
Allelic frequency distribution for three VNTR markers D6S132, D7S467, D17S27 - In Rio de Janeiro population, Brazil
-
Silva R and Moura-Neto RS, (1998). Allelic frequency distribution for three VNTR markers D6S132, D7S467, D17S27 - in Rio de Janeiro population, Brazil. Forensic Sci. Intl. 94: 33-38.
-
(1998)
Forensic Sci. Intl.
, vol.94
, pp. 33-38
-
-
Silva, R.1
Moura-Neto, R.S.2
-
10
-
-
0025905795
-
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, Sugcliffe JS, Fu YH, Kuhl DP, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang FP, Eussen BE, Van Ommen GJB, Blonden LAJ, Riggins GJ, Chastain JL, Kunst CB, Galjaard H, Caskey CT, Nelson DL, Oostra BA and Warren ST, (1991). Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65: 905-914.
-
(1991)
Cell
, vol.65
, pp. 905-914
-
-
Verkerk, A.J.1
Pieretti, M.2
Sugcliffe, 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
Eussen, B.E.11
Van Ommen, G.J.B.12
Blonden, L.A.J.13
Riggins, G.J.14
Chastain, J.L.15
Kunst, C.B.16
Galjaard, H.17
Caskey, C.T.18
Nelson, D.L.19
Oostra, B.A.20
Warren, S.T.21
more..
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