-
1
-
-
0026751517
-
Analysis of full fragile X mutation in fetal tissutes and monozygotic twins indicate that abnormal methylation and somathic eterogeneity are established early in development
-
Devys D, Biancalana V, Rousseau F, Boué J, Mandel JL, Oberlé I (1992): Analysis of full fragile X mutation in fetal tissutes and monozygotic twins indicate that abnormal methylation and somathic eterogeneity are established early in development. Am J Med Genet 43:208-216.
-
(1992)
Am J Med Genet
, vol.43
, pp. 208-216
-
-
Devys, D.1
Biancalana, V.2
Rousseau, F.3
Boué, J.4
Mandel, J.L.5
Oberlé, I.6
-
2
-
-
0001575332
-
Prenatal diagnosis of fragile X syndrome
-
Dobkin CS, Ding XH, Jenkins EC, Krawczun MS, Brown WT, Goonewardena P, Willner J, Benson C, Heitz D, Rousseau F (1991): Prenatal diagnosis of fragile X syndrome. Lancet 338: 957-958.
-
(1991)
Lancet
, vol.338
, pp. 957-958
-
-
Dobkin, C.S.1
Ding, X.H.2
Jenkins, E.C.3
Krawczun, M.S.4
Brown, W.T.5
Goonewardena, P.6
Willner, J.7
Benson, C.8
Heitz, D.9
Rousseau, F.10
-
3
-
-
0026049556
-
Prenatal diagnosis of fragile X syndrome
-
Hirst M, Knight S, Devys K, Cross G, Ocraft K, Raeburn S, Heeger S, Eunpu D, Jenkins EC, Lindenbaum R (1991): Prenatal diagnosis of fragile X syndrome. Lancet 338:956-957.
-
(1991)
Lancet
, vol.338
, pp. 956-957
-
-
Hirst, M.1
Knight, S.2
Devys, K.3
Cross, G.4
Ocraft, K.5
Raeburn, S.6
Heeger, S.7
Eunpu, D.8
Jenkins, E.C.9
Lindenbaum, R.10
-
4
-
-
0025800165
-
Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n
-
Kremer EJ, Pritchard M, Lynch M, Yu S, Holman K, Baker E, Warren ST, Schlessinger D, Sutherland GR, Richards RI (1991): Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science 252:1711-1714.
-
(1991)
Science
, vol.252
, pp. 1711-1714
-
-
Kremer, E.J.1
Pritchard, M.2
Lynch, M.3
Yu, S.4
Holman, K.5
Baker, E.6
Warren, S.T.7
Schlessinger, D.8
Sutherland, G.R.9
Richards, R.I.10
-
5
-
-
0026339303
-
Instability of a 550 bp DNA segment and abnormal methylation in fragile X syndrome
-
Oberlé I, Rousseau F, Heitz D, Krets C, Devys D, Hanauer A, Boué J, Bertheas MF, Mandel JL (1991): Instability of a 550 bp DNA segment and abnormal methylation in fragile X syndrome. Science 252:1097-1102.
-
(1991)
Science
, vol.252
, pp. 1097-1102
-
-
Oberlé, I.1
Rousseau, F.2
Heitz, D.3
Krets, C.4
Devys, D.5
Hanauer, A.6
Boué, J.7
Bertheas, M.F.8
Mandel, J.L.9
-
6
-
-
0027288903
-
The full mutation in the FMR 1 gene of male fragile X patients is absent in their sperm
-
Reyniers E, Vits L, De Boulle K, van Roy B, van Beizen D, de Graff E, Verkerk AJ, Jorens H, Darby ZJ, Oostra BA, Willelms PJ (1993): The full mutation in the FMR 1 gene of male fragile X patients is absent in their sperm. Nature Genet 4:143-146.
-
(1993)
Nature Genet
, vol.4
, pp. 143-146
-
-
Reyniers, E.1
Vits, L.2
De Boulle, K.3
Van Roy, B.4
Van Beizen, D.5
De Graff, E.6
Verkerk, A.J.7
Jorens, H.8
Darby, Z.J.9
Oostra, B.A.10
Willelms, P.J.11
-
7
-
-
0025952727
-
Direct diagnosis by DNA analysis of the fragile X mental retardation syndrome
-
Rousseau F, Heitz D, Biancalana V, Blumenfeld S, Kretz C, Boué J, Tommerup N, van der Hagen C, de Lozier-Blancthet C, Croquette MF, et al. (1991): Direct diagnosis by DNA analysis of the fragile X mental retardation syndrome. N Engl J Med 325:1673-1681.
-
(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
Boué, J.6
Tommerup, N.7
Van Der Hagen, C.8
De Lozier-Blancthet, C.9
Croquette, M.F.10
-
8
-
-
0026922707
-
DNA methylation represses FMR1 trascription in fragile X syndrome
-
Suthcliffe JS, Nelson DL, Zhang F, Pieretti M, Caskey CT, Saxe D, Warren ST (1992): DNA methylation represses FMR1 trascription in fragile X syndrome. Hum Mol Genet 1:397-400.
-
(1992)
Hum Mol Genet
, vol.1
, pp. 397-400
-
-
Suthcliffe, J.S.1
Nelson, D.L.2
Zhang, F.3
Pieretti, M.4
Caskey, C.T.5
Saxe, D.6
Warren, S.T.7
-
9
-
-
0026095336
-
Prenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence
-
Sutherland GR, Gedeon A, Kornman L, Donnelly A, Byard RW, Mulley JC, Cremer E, Lynch M, Pritchard M, Yu S, 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
Donnelly, A.4
Byard, R.W.5
Mulley, J.C.6
Cremer, E.7
Lynch, M.8
Pritchard, M.9
Yu, S.10
Richards, R.I.11
-
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 AJMH, Pieretti M, Sutcliffe JS, Fu Y, Kuhl DPA, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang F, Eussen BE, van Ommen GJB, Blonden LAJ, Riggins GJ, Chastain JL, Kunst CB, Galjaard H, Caskey CT, Nelson DL, Oostra BA, 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.M.H.1
Pieretti, M.2
Sutcliffe, J.S.3
Fu, Y.4
Kuhl, D.P.A.5
Pizzuti, A.6
Reiner, O.7
Richards, S.8
Victoria, M.F.9
Zhang, F.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..
|