-
1
-
-
25944481062
-
Molecular fragile X screening in a pregnant population with family histories of mental retardation (MR) or learning disabilities (LD)
-
Black S, Maddalena A, Bick DP, Levinson G, Howard-Peebles PN, Schulman JD (1992): Molecular fragile X screening in a pregnant population with family histories of mental retardation (MR) or learning disabilities (LD). Am J Hum Genet 51:A20.
-
(1992)
Am J Hum Genet
, vol.51
-
-
Black, S.1
Maddalena, A.2
Bick, D.P.3
Levinson, G.4
Howard-Peebles, P.N.5
Schulman, J.D.6
-
2
-
-
0026345716
-
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
-
Fu Y-H, Kuhl DPA, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJMH, Holden JJA, Fenwick RG, Warren ST, Oostra BA, Nelson DL, 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.H.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
-
3
-
-
0026635947
-
Recent experience in prenatal diagnosis of fragile X
-
Howard-Peebles PN, Maddalena A. (1992): Recent experience in prenatal diagnosis of fragile X. Am J Med Genet 43:162-166.
-
(1992)
Am J Med Genet
, vol.43
, pp. 162-166
-
-
Howard-Peebles, P.N.1
Maddalena, A.2
-
4
-
-
0028245479
-
Improved sizing of fragile X CGG repeats by nested PCR
-
Levinson G, Maddalena A, Palmer FT, Harton GL, Bick DP, Howard-Peebles PN, Black SH, Schulman JD (1994): Improved sizing of fragile X CGG repeats by nested PCR. Am J Med Genet 51: 527-534.
-
(1994)
Am J Med Genet
, vol.51
, pp. 527-534
-
-
Levinson, G.1
Maddalena, A.2
Palmer, F.T.3
Harton, G.L.4
Bick, D.P.5
Howard-Peebles, P.N.6
Black, S.H.7
Schulman, J.D.8
-
5
-
-
0028237301
-
Prenatal diagnosis in known fragile X carriers
-
Maddalena A, Hicks BD, Spence WC, Levinson GL, Howard-Peebles PN (1994): Prenatal diagnosis in known fragile X carriers. Am J Med Genet 51:490-496.
-
(1994)
Am J Med Genet
, vol.51
, pp. 490-496
-
-
Maddalena, A.1
Hicks, B.D.2
Spence, W.C.3
Levinson, G.L.4
Howard-Peebles, P.N.5
-
6
-
-
0025952727
-
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation
-
Rousseau F, Heitz D, Biancalana V, Blumfield S, Kretz C, Boué J, Tommerup N, Van Der Hagen C, DeLozier-Blanchet C, Croquette M-F, Gilgerkrantz S, Jalbert P, Voelckel M-A, Oberlé I, Mandel J-L (1991): Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. 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
Blumfield, S.4
Kretz, C.5
Boué, J.6
Tommerup, N.7
Van Der Hagen, C.8
DeLozier-Blanchet, C.9
Croquette, M.-F.10
Gilgerkrantz, S.11
Jalbert, P.12
Voelckel, M.-A.13
Oberlé, I.14
Mandel, J.-L.15
-
7
-
-
0026689694
-
On some technical aspects of direct DNA diagnosis of the fragile X syndrome
-
Rousseau F, Heitz D, Biancalana V, Oberlé I, Mandel J-L (1992): On some technical aspects of direct DNA diagnosis of the fragile X syndrome. Am J Med Genet 43:197-207.
-
(1992)
Am J Med Genet
, vol.43
, pp. 197-207
-
-
Rousseau, F.1
Heitz, D.2
Biancalana, V.3
Oberlé, I.4
Mandel, J.-L.5
-
8
-
-
4244114208
-
Mutational prevalence of fragile X premutations in 10,624 females from the general population by Southern blotting
-
abstract #3
-
Rousseau F, Rehel R, Rouillard P, DeGrandpre P, Morgan K, Khandjian EW (1993): Mutational prevalence of fragile X premutations in 10,624 females from the general population by Southern blotting. Am J Hum Genet 53:abstract #3.
-
(1993)
Am J Hum Genet
, vol.53
-
-
Rousseau, F.1
Rehel, R.2
Rouillard, P.3
DeGrandpre, P.4
Morgan, K.5
Khandjian, E.W.6
-
9
-
-
0028799833
-
Prevalence of carriers of premutation-size alleles of the FMR1 gene- and implications for the population genetics of the fragile X syndrome
-
Rousseau F, Rouillard P, Morel M-L, Khandjian EW, Morgan K (1995): Prevalence of carriers of premutation-size alleles of the FMR1 gene- and implications for the population genetics of the fragile X syndrome. Am J Hum Genet 57:1006-1018.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1006-1018
-
-
Rousseau, F.1
Rouillard, P.2
Morel, M.-L.3
Khandjian, E.W.4
Morgan, K.5
-
10
-
-
0027525069
-
Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population
-
Snow K, Doud LK, Hagerman R, Pergolizzi RG, Erster SH, Thibodeau SN (1993): Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population. Am J Hum Genet 53:1217-1228.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 1217-1228
-
-
Snow, K.1
Doud, L.K.2
Hagerman, R.3
Pergolizzi, R.G.4
Erster, S.H.5
Thibodeau, S.N.6
-
11
-
-
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, Kremer 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
Kremer, E.7
Lynch, M.8
Pritchard, M.9
Yu, S.10
Richards, R.I.11
-
12
-
-
0026719817
-
Fragile X syndrome: Unique genetics of the heritable unstable element
-
Yu S, Mulley J, Loesch D, Turner G, Donnelly A, Gedeon A, Hillen D, Kremer E, Lynch M, Pritchard M, Sutherland GR, Richards RI (1992): Fragile X syndrome: Unique genetics of the heritable unstable element. Am J Hum Genet 50:968-980.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 968-980
-
-
Yu, S.1
Mulley, J.2
Loesch, D.3
Turner, G.4
Donnelly, A.5
Gedeon, A.6
Hillen, D.7
Kremer, E.8
Lynch, M.9
Pritchard, M.10
Sutherland, G.R.11
Richards, R.I.12
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