-
1
-
-
0025905795
-
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
-
(1991)
Cell
, vol.65
, pp. 905-914
-
-
Verkerk, A.J.1
Pieretti, M.2
Sutcliffe, 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
Chastein, J.L.15
Kunst, C.B.16
Galjaard, D.L.17
Oostra, B.A.18
Warren, S.T.19
-
2
-
-
0026345716
-
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
-
(1991)
Cell
, vol.67
, pp. 1047-1058
-
-
Fu, Y.H.1
Kuhl, D.P.2
Pizzuti, A.3
Pieretti, M.4
Sutcliffe, J.S.5
Richards, S.6
Verkerk, A.J.7
Holden, J.J.8
Fenwick, R.G.9
Warren, S.T.10
Oostra, B.A.11
Nelson, D.L.12
Caskey, C.T.13
-
3
-
-
0026339303
-
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
-
(1991)
Science
, vol.252
, pp. 1097-1102
-
-
Oberle, I.1
Rousseau, F.2
Heitz, D.3
Kretz, C.4
Devys, D.5
Hanauer, A.6
Boue, J.7
Bertheas, M.F.8
Mandel, J.L.9
-
4
-
-
0021961665
-
Further segregation analysis of the fragile X syndrome with special reference to transmitting males
-
(1985)
Hum Genet
, vol.69
, pp. 289-299
-
-
Sherman, S.L.1
Jacobs, P.A.2
Morton, N.E.3
Froster Iskenius, U.4
Howard Peebles, P.N.5
Nielsen, K.B.6
Partington, M.W.7
Sutherland, G.R.8
Turner, G.9
Watson, M.10
-
5
-
-
0025952727
-
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation
-
(1991)
N Engl J Med
, vol.325
, pp. 1673-1681
-
-
Rousseau, F.1
Heitz, D.2
Biancalana, V.3
Blumenfeld, S.4
Kretz, C.5
Boue, J.6
Tommerup, N.7
Van Der Hagen, C.8
Blanchet-DeLozier, C.9
Croquette, M.F.10
Gilgenkrantz, S.11
Jalbert, P.12
Voelckel, M.A.13
Oberle, I.14
Mandel, J.L.15
-
6
-
-
0027421667
-
Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families
-
(1993)
Hum Genet
, vol.92
, pp. 491-498
-
-
Steinbach, P.1
Wohrle, D.2
Tariverdian, G.3
Kennerknecht, I.4
Barbi, G.5
Edlinger, H.6
Enders, H.7
Gotz Sothmann, M.8
Heilbronner, H.9
Hosenfeld, D.10
Kircheisen, R.11
Majewski, F.12
Meinecke, P.13
Passarge, E.14
Schmidt, A.15
Seidel, H.16
Wolff, G.17
Zankl, M.18
-
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
-
(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
Scinzel, A.13
Marcos, J.A.G.14
Schorderet, D.F.15
Schaap, T.16
Maccioni, L.17
Russo18
Schwartz, C.19
Mandel, J.L.20
more..
-
8
-
-
0025970882
-
Physical mapping across the fragile X: Hypermethylation and clinical expression of the fragile X syndrome
-
(1991)
Cell
, vol.64
, pp. 861-866
-
-
Bell, M.V.1
Hirst, M.C.2
Nakahori, Y.3
MacKinnon, R.N.4
Roche, A.5
Flint, T.J.6
Jacobs, P.A.7
Tommerup, N.8
Tranebjaerg, L.9
Froster Iskenius, U.10
Kerr, B.11
Turner, G.12
Lindenbaum, R.H.13
Winter, R.14
Pembrey, M.15
Thibodeau, S.16
Davies, K.E.17
-
10
-
-
0031598377
-
Stalling of DNA methyltransferase in chromosome stability and chromosome remodelling
-
(1998)
Int J Mol Med
, vol.1
, pp. 147-156
-
-
Smith, S.S.1
-
16
-
-
16944362592
-
Characterization of FMR1 promoter elements by in vivo-footprinting analysis
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1354-1362
-
-
Schwemmle, S.1
de Graaff, E.2
Deissler, H.3
Glaser, D.4
Wohrle, D.5
Kennerknecht, I.6
Just, W.7
Oostra, B.A.8
Dorfler, W.9
Vogel, W.10
Steinbach, P.11
-
23
-
-
0345528532
-
Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 5395-5400
-
-
Weiler, I.J.1
Irwin, S.A.2
Klintsova, A.Y.3
Spencer, C.M.4
Brazelton, A.D.5
Miyashiro, K.6
Comery, T.A.7
Patel, B.8
Eberwine, J.9
Greenough, W.T.10
-
27
-
-
0001836958
-
X-linked mental retardation and the fragile X syndrome: A clinical approach
-
Davies KE, ed. The fragile X syndrome. Oxford: Oxford University Press
-
(1989)
, pp. 1-39
-
-
Fryns, J.P.1
-
28
-
-
0002355832
-
Clinical and diagnostic aspects of fragile X syndrome
-
Wells RD, Warren ST, eds. Genetic instabilities and hereditary neurological diseases. San Diego, CA: Academic Press
-
(1998)
, pp. 15-22
-
-
Hagerman, R.J.1
-
32
-
-
0030058075
-
Molecular basis of genetic instability of triplet repeats
-
(1996)
J Biol Chem
, vol.271
, pp. 2875-2878
-
-
Wells, R.D.1
-
35
-
-
0001994369
-
Systems for the study of triplet repeat instability: Cultured mammalian cells
-
Wells RD, Warren ST, eds. Genetic instabilities and hereditary neurological diseases. San Diego, CA: Academic Press
-
(1998)
, pp. 509-523
-
-
Steinbach, P.1
Wohrle, D.2
Glaser, D.3
Vogel, W.4
-
41
-
-
0031971691
-
Unusual mutations in high functioning fragile X males: Apparent instability of expanded unmethylated CGG repeats
-
(1998)
J Med Genet
, vol.35
, pp. 103-111
-
-
Wohrle, D.1
Salat, U.2
Glaser, D.3
Mucke, J.4
Meisel Stosiek, M.5
Schindler, D.6
Vogel, W.7
Steinbach, P.8
-
44
-
-
0027288903
-
The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm
-
(1993)
Nat Genet
, vol.4
, pp. 143-146
-
-
Reyniers, E.1
Vits, L.2
De Boulle, K.3
Van Roy, B.4
Van Velzen, D.5
de Graaf, E.6
Verkerk, A.J.7
Jorens, H.Z.8
Darby, J.K.9
Oostra, B.10
Willems, P.J.11
-
45
-
-
0027715424
-
Enhanced expression of the murine FMR1 gene during germ cell proliferation suggests a special function in both the male and the female gonad
-
(1993)
Hum Mol Genet
, vol.2
, pp. 2043-2050
-
-
Bachner, D.1
Manca, A.2
Steinbach, P.3
Wohrle, D.4
Just, W.5
Vogel, W.6
Hameister, H.7
Poustka, A.8
-
46
-
-
0027310521
-
Enhanced Fmr-1 expression in testis
-
(1993)
Nat Genet
, vol.4
, pp. 115-116
-
-
Bachner, D.1
Steinbach, P.2
Wohrle, D.3
Just, W.4
Vogel, W.5
Hameister, H.6
Manca, A.7
Poustka, A.8
-
47
-
-
0031045874
-
Characterization of the full fragile X syndrome mutation in fetal gametes
-
(1997)
Nat Genet
, vol.15
, pp. 165-169
-
-
Malter, H.E.1
Iber, J.C.2
Willemsen, R.3
de Graaff, E.4
Tarleton, J.C.5
Leisti, J.6
Warren, S.T.7
Oostra, B.A.8
-
48
-
-
0001299954
-
FMR1 and mutations in fragile X syndrome: Molecular biology, biochemistry, and genetics
-
Wells RD, Warren ST, eds. Genetic instabilities and hereditary neurological diseases. San Diego: Academic Press
-
(1998)
, pp. 27-46
-
-
Imbert, G.1
Feng, Y.2
Warren, S.T.3
Mandel, J.L.4
-
50
-
-
0028264043
-
High functioning fragile X males: Demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression
-
(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
Kuhl, D.11
Nelson, D.L.12
Caskey, C.T.13
Taylor, A.K.14
-
51
-
-
0029028295
-
Rapid antibody test for fragile X syndrome
-
(1995)
Lancet
, vol.345
, pp. 1147-1148
-
-
Willemsen, R.1
Mohkamsing, S.2
de Vries, B.3
Devys, D.4
van den Ouweland, A.5
Mandel, J.L.6
Galjaard, H.7
Oostra, B.8
-
59
-
-
0033612240
-
In vivo footprinting analysis of the FMR1 gene: Proposals concerning gene regulation in high-functioning males
-
(1999)
Am J Med Genet
, vol.84
, pp. 266-267
-
-
Schwemmle, S.1
-
61
-
-
0028267736
-
A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome
-
(1994)
Hum Mol Genet
, vol.3
, pp. 615-620
-
-
Meijer, H.1
de Graaff, E.2
Merckx, D.M.3
Jongbloed, R.J.4
de Die Smulders, C.E.5
Engelen, J.J.6
Fryns, J.P.7
Curfs, P.M.8
Oostra, B.A.9
-
66
-
-
0029042740
-
A heterogeneous set of FMR1 proteins is widely distributed in mouse tissues and is modulated in cell culture
-
(1995)
Hum Mol Genet
, vol.4
, pp. 783-789
-
-
Khandjian, E.W.1
Fortin, A.2
Thibodeau, A.3
Tremblay, S.4
Cote, F.5
Devys, D.6
Mandel, J.L.7
Rousseau, F.8
|