-
9
-
-
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., Jr.9
Warren, S.T.10
Oostra, B.A.11
Nelson, D.L.12
Caskey, C.T.13
-
11
-
-
0002355832
-
Clinical and diagnostic aspects of fragile X syndrome
-
Wells RD, Warren ST (eds) Genetic instabilities and hereditary neurological disorders. Academic Press, San Diego
-
(1998)
, pp. 15-25
-
-
Hagerman, R.1
-
15
-
-
0001299954
-
FMR1 and mutations in fragile X syndrome: Molecular biology, biochemistry, and genetics
-
Wells RD, Warren ST (eds) Genetic instabilities and hereditary neurological disorders. Academic Press, San Diego
-
(1998)
, pp. 509-528
-
-
Imbert, G.1
Feng, Y.2
Nelson, D.3
Warren, S.T.4
Mandel, J.L.5
-
16
-
-
0034105237
-
Evidence for suppression of cellular growth in vitro and selection against the indigenous mouse X chromosome in A9 cell hybrids after microcell-mediated transfer of an X from other mammalian species
-
(2000)
Cytogenet Cell Genet
, vol.88
, pp. 110-113
-
-
Islam, M.Q.1
Islam, K.2
-
19
-
-
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
-
23
-
-
0026339303
-
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
-
(1991)
Science
, vol.252
, pp. 1097-1102
-
-
Oberlé, I.1
Rousseau, F.2
Heitz, D.3
Kretz, C.4
Devys, D.5
Hanauer, A.6
Boué, J.7
Bertheas, M.F.8
Mandel, J.L.9
-
24
-
-
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
Schwartz, C.15
Mandel, J.L.16
-
25
-
-
0033737169
-
Increase of FMRP expression, elevated levels of FMR1 mRNA, and clonal selection in proliferating cells with unmethylated fragile X repeat expansions: A clue to the sex bias in the transmission of full mutations?
-
(2000)
J Med Genet
, vol.37
, pp. 842-850
-
-
Salat, U.1
Bardoni, B.2
Wöhrle, D.3
Steinbach, P.4
-
26
-
-
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
Gläser, D.4
Wöhrle, D.5
Kennerknecht, I.6
Just, W.7
Oostra, B.A.8
Dörfler, W.9
Vogel, W.10
Steinbach, P.11
-
27
-
-
0001994369
-
Systems for the study of triplet repeat instability: Cultured mammalian cells
-
Wells RD, Warren ST (eds) Genetic instabilities and hereditary neurogical disorders. Academic Press, San Diego
-
(1998)
, pp. 509-528
-
-
Steinbach, P.1
Wöhrle, D.2
Gläser, D.3
Vogel, W.4
-
29
-
-
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.M.H.1
Pieretti, M.2
Sutcliffe, J.S.3
Fu, Y.H.4
Kuhl, D.P.A.5
Pizzuti, A.6
Reiner, O.7
Richards, S.8
Victoria, M.F.9
Zhang, F.10
Eussen, B.W.11
Van Ommen, G.J.B.12
Blonden, H.13
Caskey, C.T.14
Nelson, D.L.15
Oostra, B.A.16
Warren, S.T.17
-
33
-
-
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
-
-
Wöhrle, D.1
Salat, U.2
Gläser, D.3
Mücke, J.4
Meisel-Stosiek, M.5
Schindler, D.6
Vogel, W.7
Steinbach, P.8
-
34
-
-
0026347628
-
Fragile X genotype characterized by an unstable repeat region of DNA
-
(1991)
Science
, vol.252
, pp. 1179-1181
-
-
Yu, S.1
Pritchard, M.2
Kremer, E.3
Lynsch, M.4
Nancarrow, J.5
Baker, E.6
Holman, K.7
Mulley, J.C.8
Warren, S.T.9
Schlessinger, D.10
Sutherland, G.R.11
Richards, R.I.12
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