-
1
-
-
0023265186
-
Fragile X syndrome: A study of the psychological profile in 23 prepubertal subjects
-
Borghgraef M, Fryns JP, Dielkens A, Pyck K, Van den Berghe H (1987): Fragile X syndrome: A study of the psychological profile in 23 prepubertal subjects. Clin Genet 32:179-186.
-
(1987)
Clin Genet
, vol.32
, pp. 179-186
-
-
Borghgraef, M.1
Fryns, J.P.2
Dielkens, A.3
Pyck, K.4
Van Den Berghe, H.5
-
2
-
-
2742568813
-
The postpubertal fragile X male: A study of the intelligence and psychological profile of 17 fragile X boys
-
Fraser WI (ed): London and New York: Routledge
-
Borghgraef M, Fryns JP, Van den Berghe R, Pyck K, Van den Berghe H (1990): The postpubertal fragile X male: A study of the intelligence and psychological profile of 17 fragile X boys. In Fraser WI (ed): "Key Issues in Mental Retardation Research. Proceedings of the Eighth Congress of the International Association for the Scientific Study of Mental Deficiency (IASSMD)." London and New York: Routledge, pp 94-105.
-
(1990)
Key Issues in Mental Retardation Research. Proceedings of the Eighth Congress of the International Association for the Scientific Study of Mental Deficiency (IASSMD)
, pp. 94-105
-
-
Borghgraef, M.1
Fryns, J.P.2
Van Den Berghe, R.3
Pyck, K.4
Van Den Berghe, H.5
-
3
-
-
0019872402
-
Fragile X in a normal male: A cautionary tale
-
Daker M, Chioliac P, Fear C, Berry A (1981): Fragile X in a normal male: A cautionary tale. Lancet I:780.
-
(1981)
Lancet
, vol.1
, pp. 780
-
-
Daker, M.1
Chioliac, P.2
Fear, C.3
Berry, A.4
-
4
-
-
0028989063
-
Translational suppression by trinucleotide repeat expansion at FMR1
-
Feng Y, Zhang F, Lokey K, Chastain J, Lakkis L, Eberhart D, Warren S (1995): Translational suppression by trinucleotide repeat expansion at FMR1. Science 268:731-734.
-
(1995)
Science
, vol.268
, pp. 731-734
-
-
Feng, Y.1
Zhang, F.2
Lokey, K.3
Chastain, J.4
Lakkis, L.5
Eberhart, D.6
Warren, S.7
-
5
-
-
0028264043
-
High functioning fragile X males: Demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression
-
Hagerman RJ, Hull CE, Safanda JF, Carpenter I, Staley LW, O'Connor RA, Seydel C, Mazzocco MM, Snow K, Thibodeau SN (1994): High functioning fragile X males: Demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression. Am J Med Genet 51:298-308.
-
(1994)
Am J Med Genet
, vol.51
, pp. 298-308
-
-
Hagerman, R.J.1
Hull, C.E.2
Safanda, J.F.3
Carpenter, I.4
Staley, L.W.5
O'Connor, R.A.6
Seydel, C.7
Mazzocco, M.M.8
Snow, K.9
Thibodeau, S.N.10
-
6
-
-
0028305242
-
No mental retardation in a man with 40% abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations
-
Rousseau F, Robb LJ, Rouillard P, Der Kaloustian VM (1994a): No mental retardation in a man with 40% abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations. Hum Mol Genet 3:927-930.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 927-930
-
-
Rousseau, F.1
Robb, L.J.2
Rouillard, P.3
Der Kaloustian, V.M.4
-
7
-
-
0028141919
-
A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: 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 (1994b): A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: 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
-
8
-
-
0021961665
-
Further segregation analysis of the fragile X syndrome with special reference to transmitting males
-
Sherman SL, Jacobs PA, Morton N, Froster-Iskenius U, Howard-Peebles P, Nielsen KB, Partington M, Sutherland G, Turner G, Watson M (1985): Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Hum Genet 69:289-299.
-
(1985)
Hum Genet
, vol.69
, pp. 289-299
-
-
Sherman, S.L.1
Jacobs, P.A.2
Morton, N.3
Froster-Iskenius, U.4
Howard-Peebles, P.5
Nielsen, K.B.6
Partington, M.7
Sutherland, G.8
Turner, G.9
Watson, M.10
-
9
-
-
2742612905
-
Normal or borderline intelligence level in two fragile X boys
-
Paper presented at the Albuquerque, June 1994
-
Steyaert J, Borghgraef M, Fryns JP (1994): Normal or borderline intelligence level in two fragile X boys. Paper presented at the Fourth International Fragile X Conference, Albuquerque, June 1994.
-
(1994)
Fourth International Fragile X Conference
-
-
Steyaert, J.1
Borghgraef, M.2
Fryns, J.P.3
-
10
-
-
0026922707
-
DNA methylation represses FMR-1 transcription in fragile X syndrome
-
Sutcliffe JS, Nelson DL, Zhang F, Pieretti M, Caskey CT, Saxe D, Warren ST (1992): DNA methylation represses FMR-1 transcription in fragile X syndrome. Hum Mol Genet 1:397-400.
-
(1992)
Hum Mol Genet
, vol.1
, pp. 397-400
-
-
Sutcliffe, J.S.1
Nelson, D.L.2
Zhang, F.3
Pieretti, M.4
Caskey, C.T.5
Saxe, D.6
Warren, S.T.7
-
11
-
-
0026095336
-
Prenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence
-
Sutherland GR, Gedeon A, Kornman L, Donelly A, Byard RW, Mulley JC, Kremer E, Lynch M, Pritchard M, Sui Y, Richards RI (1991): Prenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence. N Engl J Med 325:1720-1722.
-
(1991)
N Engl J Med
, vol.325
, pp. 1720-1722
-
-
Sutherland, G.R.1
Gedeon, A.2
Kornman, L.3
Donelly, A.4
Byard, R.W.5
Mulley, J.C.6
Kremer, E.7
Lynch, M.8
Pritchard, M.9
Sui, Y.10
Richards, R.I.11
-
13
-
-
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 A, Pieretti M, Sutcliffe J, Fu Y, Kuhl D, Pizzuti A, Reiner O, Richards S, Victoria M, Zhang F, Eussen B, Van Ommen G, Blonden L, Riggins G, Chastain J, Kunst C, Galjaard H, Caskey T, Nelson D, Oostra B, Warren S (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.1
Pieretti, M.2
Sutcliffe, J.3
Fu, Y.4
Kuhl, D.5
Pizzuti, A.6
Reiner, O.7
Richards, S.8
Victoria, M.9
Zhang, F.10
Eussen, B.11
Van Ommen, G.12
Blonden, L.13
Riggins, G.14
Chastain, J.15
Kunst, C.16
Galjaard, H.17
Caskey, T.18
Nelson, D.19
Oostra, B.20
Warren, S.21
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