-
1
-
-
0026345716
-
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
-
Fu YH, Kuhl DP, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJ, Holden JJ, Fenwick RG Jr, Warren ST. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 1991; 67: 1047-58.
-
(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 Jr., R.G.9
Warren, S.T.10
-
2
-
-
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 AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang FP. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991; 65: 905-14.
-
(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
-
3
-
-
0026907552
-
Fragile X syndrome without CCG amplification has an FMR1 deletion
-
Gedeon AK, Baker E, Robinson H, Partington MW, Gross B, Manca A, Korn B, Poustka A, Yu S, Sutherland GR, et al. Fragile X syndrome without CCG amplification has an FMR1 deletion. Nat Genet 1992; 1: 341-4.
-
(1992)
Nat Genet
, vol.1
, pp. 341-344
-
-
Gedeon, A.K.1
Baker, E.2
Robinson, H.3
Partington, M.W.4
Gross, B.5
Manca, A.6
Korn, B.7
Poustka, A.8
Yu, S.9
Sutherland, G.R.10
-
4
-
-
0026781016
-
A microdeletion of less than 250 kb, including the proximal part of the FMR-1 gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome
-
Wöhrle D, Kotzot D, Hirst MC, Manca A, Korn B, Schmidt A, Barbi G, Rott HD, Poustka A, Davies KE, et al. A microdeletion of less than 250 kb, including the proximal part of the FMR-1 gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome. Am J Hum Genet 1992; 51: 299-306.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 299-306
-
-
Wöhrle, D.1
Kotzot, D.2
Hirst, M.C.3
Manca, A.4
Korn, B.5
Schmidt, A.6
Barbi, G.7
Rott, H.D.8
Poustka, A.9
Davies, K.E.10
-
5
-
-
0027489281
-
An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype
-
Tarleton J, Richie R, Schwartz C, Rao K, Aylsworth AS, Lachiewicz A. An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype. Hum Mol Genet 1993; 2: 1973-4.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1973-1974
-
-
Tarleton, J.1
Richie, R.2
Schwartz, C.3
Rao, K.4
Aylsworth, A.S.5
Lachiewicz, A.6
-
6
-
-
0025952727
-
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation
-
Rousseau F, Heitz D, Biancalana V, Blumenfeld S, Kretz C, Boue J, Tommerup N, Van Der Hagen C, DeLozier-Blanchet C, Croquette MF, et al. Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med 1991; 325: 1673-81.
-
(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
-
7
-
-
0026339303
-
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
-
Oberlé I, Rousseau F, Heitz D, Kretz C, Devys D, Hanauer A, Boue J, Bertheas MF, Mandel JL. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 1991; 252: 1097-102.
-
(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
Boue, J.7
Bertheas, M.F.8
Mandel, J.L.9
-
8
-
-
0030711686
-
Systematic screening for fragile X syndrome in a cohort of 574 mentally retarded children
-
Gérard B, Le Heuzey MF, Brunie G, Lewine P, Saiag MC, Cacheux V, Da Silva F, Dugas M, Mouren-Simeoni MC, Elion J, Grandchamp B. Systematic screening for fragile X syndrome in a cohort of 574 mentally retarded children. Ann Genet 1997; 40: 139-44.
-
(1997)
Ann Genet
, vol.40
, pp. 139-144
-
-
Gérard, B.1
Le Heuzey, M.F.2
Brunie, G.3
Lewine, P.4
Saiag, M.C.5
Cacheux, V.6
Da Silva, F.7
Dugas, M.8
Mouren-Simeoni, M.C.9
Elion, J.10
Grandchamp, B.11
-
9
-
-
0033515579
-
Accelerated prenatal diagnosis of fragile X syndrome by polymerase chain reaction restriction fragment detection
-
Dobkin C, Ding X, Li S, Houck G Jr, Nolin SL, Glicksman A, Zhong N, Jenkins EC, Brown WT. Accelerated prenatal diagnosis of fragile X syndrome by polymerase chain reaction restriction fragment detection. Am J Med Genet 1999; 83: 338-41.
-
(1999)
Am J Med Genet
, vol.83
, pp. 338-341
-
-
Dobkin, C.1
Ding, X.2
Li, S.3
Houck Jr., G.4
Nolin, S.L.5
Glicksman, A.6
Zhong, N.7
Jenkins, E.C.8
Brown, W.T.9
-
10
-
-
0032932153
-
A simple multiplex FRAXA, FRAXE, and FRAXF PCR assay convenient for wide screening programs
-
Strelnikov V, Nemtsova M, Chesnokova G, Kuleshov N, Zaletayev D. A simple multiplex FRAXA, FRAXE, and FRAXF PCR assay convenient for wide screening programs. Hum Mutat 1999; 13: 166-9.
-
(1999)
Hum Mutat
, vol.13
, pp. 166-169
-
-
Strelnikov, V.1
Nemtsova, M.2
Chesnokova, G.3
Kuleshov, N.4
Zaletayev, D.5
-
12
-
-
0032918378
-
Improved fluorescent PCR-based assay for sizing CGG repeats at the FRAXA locus
-
Houdayer C, Lemonnier A, Gerard M, Chauve C, Tredano M, de Villemeur TB, Aymard P, Bonnefont JP, Feldmann D. Improved fluorescent PCR-based assay for sizing CGG repeats at the FRAXA locus. Clin Chem Lab Med 1999; 37: 397-402.
-
(1999)
Clin Chem Lab Med
, vol.37
, pp. 397-402
-
-
Houdayer, C.1
Lemonnier, A.2
Gerard, M.3
Chauve, C.4
Tredano, M.5
De Villemeur, T.B.6
Aymard, P.7
Bonnefont, J.P.8
Feldmann, D.9
-
13
-
-
24344452788
-
Incidence of fragile X syndrome in Korean patients with mental retardation
-
Choi YM, Hwang DY, Jun JK, Choe J, Park SH, Noh MK, Oh SK. Incidence of fragile X syndrome in Korean patients with mental retardation. Korean J Obst Gynec 1999; 42: 2458-64.
-
(1999)
Korean J Obst Gynec
, vol.42
, pp. 2458-2464
-
-
Choi, Y.M.1
Hwang, D.Y.2
Jun, J.K.3
Choe, J.4
Park, S.H.5
Noh, M.K.6
Oh, S.K.7
-
14
-
-
24344435392
-
Screening of fragile X syndrome by polymerase chain reaction in mentally retarded patients
-
Koo SH, Park JW, Park JH, Im CB, Kang HJ. Screening of fragile X syndrome by polymerase chain reaction in mentally retarded patients. Korean J Clin Pathol 1997; 17: 499-506.
-
(1997)
Korean J Clin Pathol
, vol.17
, pp. 499-506
-
-
Koo, S.H.1
Park, J.W.2
Park, J.H.3
Im, C.B.4
Kang, H.J.5
-
15
-
-
0027606381
-
Fragile site X chromosomes in mentally retarded boys
-
Moon HR, Moon SY. Fragile site X chromosomes in mentally retarded boys. J Korean Med Sci 1993; 8: 192-6.
-
(1993)
J Korean Med Sci
, vol.8
, pp. 192-196
-
-
Moon, H.R.1
Moon, S.Y.2
-
16
-
-
24344472030
-
Fragile X syndrome: Clinical characteristics and EEG findings
-
Chung HJ, Cha KE, Lee SH. Fragile X syndrome: clinical characteristics and EEG findings. J Korean Pediatr Soc 1997; 40: 1110-19.
-
(1997)
J Korean Pediatr Soc
, vol.40
, pp. 1110-1119
-
-
Chung, H.J.1
Cha, K.E.2
Lee, S.H.3
-
17
-
-
1842367311
-
Expand Long PCR for fragile X mutation detection
-
Hećimović S, Baris̈ić I, Müller A, Petković I, Barić I, Ligutić I, Pavelić K. Expand Long PCR for fragile X mutation detection. Clin Genet 1997; 52: 147-54.
-
(1997)
Clin Genet
, vol.52
, pp. 147-154
-
-
Hećimović, S.1
Baris̈ić, I.2
Müller, A.3
Petković, I.4
Barić, I.5
Ligutić, I.6
Pavelić, K.7
-
18
-
-
0023693305
-
Fragile X syndrome: Growth, development, and intellectual function
-
Prouty LA, Rogers RC, Stevenson RE, Dean JH, Palmer KK, Simensen RJ, Coston GN, Schwartz CE. Fragile X syndrome: growth, development, and intellectual function. Am J Med Genet 1988; 30: 123-42.
-
(1988)
Am J Med Genet
, vol.30
, pp. 123-142
-
-
Prouty, L.A.1
Rogers, R.C.2
Stevenson, R.E.3
Dean, J.H.4
Palmer, K.K.5
Simensen, R.J.6
Coston, G.N.7
Schwartz, C.E.8
-
19
-
-
0027043219
-
Infantile autism - Fragile X: Molecular findings support genetic heterogeneity
-
Malmgren H, Gustavson KH, Wahlström J, Arpi-Henriksson I, Bensch J, Pettersson U, Dahl N. Infantile autism - fragile X: molecular findings support genetic heterogeneity. Am J Med Genet 1992; 44: 830-3.
-
(1992)
Am J Med Genet
, vol.44
, pp. 830-833
-
-
Malmgren, H.1
Gustavson, K.H.2
Wahlström, J.3
Arpi-Henriksson, I.4
Bensch, J.5
Pettersson, U.6
Dahl, N.7
-
20
-
-
0034081385
-
Implication of screening for FMR1 and FMR2 gene mutation in individuals with nonspecific mental retardation in Taiwan
-
Tzeng CC, Tzeng PY, Sun HS, Chen RM, Lin SJ. Implication of screening for FMR1 and FMR2 gene mutation in individuals with nonspecific mental retardation in Taiwan. Diagn Mol Pathol 2000; 9: 75-80.
-
(2000)
Diagn Mol Pathol
, vol.9
, pp. 75-80
-
-
Tzeng, C.C.1
Tzeng, P.Y.2
Sun, H.S.3
Chen, R.M.4
Lin, S.J.5
-
21
-
-
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. Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population. Am J Hum Genet 1993; 53: 1217-28.
-
(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
-
22
-
-
0026343596
-
Fragile X syndrome
-
Jacobs PA. Fragile X syndrome [editorial]. J Med Genet 1991; 28: 809-10.
-
(1991)
J Med Genet
, vol.28
, pp. 809-810
-
-
Jacobs, P.A.1
-
23
-
-
0027509234
-
A point mutation in the FMR-1 gene associated with fragile X mental retardation
-
De Boulle K, Verkerk AJ, Reyniers E, Vits L, Hendrickx J, Van Roy B, Van den Bos F, de Graaff E, Oostra BA, Willems PJ. A point mutation in the FMR-1 gene associated with fragile X mental retardation. Nat Genet 1993; 3: 31-5.
-
(1993)
Nat Genet
, vol.3
, pp. 31-35
-
-
De Boulle, K.1
Verkerk, A.J.2
Reyniers, E.3
Vits, L.4
Hendrickx, J.5
Van Roy, B.6
Van Den Bos, F.7
De Graaff, E.8
Oostra, B.A.9
Willems, P.J.10
-
24
-
-
0031310667
-
FMRP associates with polyribosomes as an mRNP, and the 1304N mutation of severe fragile X syndrome abolishes this association
-
Feng Y, Absher D, Eberhart DE, Brown V, Malter HE, Warren ST. FMRP associates with polyribosomes as an mRNP, and the 1304N mutation of severe fragile X syndrome abolishes this association. Mol Cell 1997; 1: 109-18.
-
(1997)
Mol Cell
, vol.1
, pp. 109-118
-
-
Feng, Y.1
Absher, D.2
Eberhart, D.E.3
Brown, V.4
Malter, H.E.5
Warren, S.T.6
|