-
2
-
-
0032231936
-
Examination of factors associated with instability of the FMR1 CGG repeat
-
(1998)
Am J Hum Genet
, vol.63
, pp. 776-785
-
-
Ashley-Koch, A.E.1
Robinson, H.2
Glicksman, A.E.3
Nolin, S.L.4
Schwartz, C.E.5
Brown, W.T.6
Turner, G.7
Sherman, S.L.8
-
3
-
-
0027375451
-
Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test
-
(1993)
JAMA
, vol.270
, pp. 1569-1575
-
-
Brown, W.T.1
Houck G.E., Jr.2
Jeziorowska, A.3
Levinson, F.N.4
Ding, X.5
Dobkin, C.6
Zhong, N.7
Henderson, J.8
Brooks, S.S.9
Jenkins, E.C.10
-
6
-
-
0033069502
-
Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population
-
(1999)
Am J Hum Genet
, vol.64
, pp. 495-507
-
-
Crawford, D.C.1
Meadows, K.L.2
Newman, J.L.3
Taft, L.F.4
Pettay, D.L.5
Gold, L.B.6
Hersey, S.J.7
Hinkle, E.F.8
Stanfield, M.L.9
Holmgreen, P.10
Yeargin-Allsopp, M.11
Boyle, C.12
Sherman, S.L.13
-
9
-
-
0027378051
-
Dynamic mutation in Dutch Huntington's disease patients: Increased paternal repeat instability extending to within the normal size range
-
(1993)
J Med Genet
, vol.30
, pp. 996-1002
-
-
De Rooij, K.E.1
De Koning Cans, P.A.2
Skraastad, M.I.3
Belfroid, R.D.4
Vegter-Van Der Vlis, M.5
Roos, R.A.6
Bakker, E.7
Van Ommen, G.J.8
Den Dunnen, J.T.9
Losekoot, M.10
-
11
-
-
0028168645
-
Length of uninterrupted CGG repeats determines instability in the FMR1 gene
-
(1994)
Nat Genet
, vol.8
, pp. 88-94
-
-
Eichler, E.E.1
Holden, J.J.2
Popovich, B.W.3
Reiss, A.L.4
Snow, K.5
Thibodeau, S.N.6
Richards, C.S.7
Ward, P.A.8
Nelson, D.L.9
-
13
-
-
0031038239
-
Predisposition to the fragile X syndrome in Jews of Tunisian descent is due to the absence of AGG interruptions on a rare Mediterranean haplotype
-
(1997)
Am J Hum Genet
, vol.60
, pp. 103-112
-
-
Falik-Zaccai, T.C.1
Shachak, E.2
Yalon, M.3
Lis, Z.4
Borochowitz, Z.5
Macpherson, J.N.6
Nelson, D.L.7
Eichler, E.E.8
-
14
-
-
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
-
15
-
-
7844247606
-
Re-examination of factors associated with expansion of CGG repeats using a single nucleotide polymorphism in FMR1
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1935-1946
-
-
Gunter, C.1
Paradee, W.2
Crawford, D.C.3
Meadows, K.A.4
Newman, J.5
Kunst, C.B.6
Nelson, D.L.7
Schwartz, C.8
Murray, A.9
Macpherson, J.N.10
Sherman, S.L.11
Warren, S.T.12
-
20
-
-
0028360849
-
Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles
-
(1994)
Cell
, vol.77
, pp. 853-861
-
-
Kunst, C.B.1
Warren, S.T.2
-
21
-
-
0032897901
-
Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism
-
(1999)
Hum Mol Genet
, vol.8
, pp. 173-183
-
-
Leeflang, E.P.1
Tavare, S.2
Marjoram, P.3
Neal, C.O.4
Srinidhi, J.5
MacFarlane, H.6
MacDonald, M.E.7
Gusella, J.F.8
De Young, M.9
Wexler, N.S.10
Arnheim, N.11
-
26
-
-
8044254656
-
The role of size, sequence and haplotype in the stability of FRAXA and FRAXE alleles during transmission
-
(1997)
Hum Mol Genet
, vol.6
, pp. 173-184
-
-
Murray, A.1
Macpherson, J.N.2
Pound, M.C.3
Sharrock, A.4
Youings, S.A.5
Dennis, N.R.6
McKechnie, N.7
Linehan, P.8
Morton, N.E.9
Jacobs, P.A.10
-
29
-
-
19244362362
-
Familial transmission of the FMR1 CGG repeat
-
(1996)
Am J Hum Genet
, vol.59
, pp. 1252-1261
-
-
Nolin, S.L.1
Lewis F.A. III2
Ye, L.L.3
Houck G.E., Jr.4
Glicksman, A.E.5
Limprasert, P.6
Li, S.Y.7
Zhong, N.8
Ashley, A.E.9
Feingold, E.10
Sherman, S.L.11
Brown, W.T.12
-
31
-
-
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
-
33
-
-
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
DeLozier-Blanchet, C.9
Croquette, M.F.10
-
38
-
-
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
-
41
-
-
0034130169
-
FRAXA and FRAXE: The results of a five year survey
-
(2000)
J Med Genet
, vol.37
, pp. 415-421
-
-
Youings, S.A.1
Murray, A.2
Dennis, N.3
Ennis, S.4
Lewis, C.5
McKechnie, N.6
Pound, M.7
Sharrock, A.8
Jacobs, P.9
|