-
1
-
-
0022617471
-
Fragile X autism: A multicenter survey
-
1. Brown WT, Jenkins EC, Cohen IL, Fisch GS, Wolf-Shein EC, Gross A, et al. Fragile X autism: a multicenter survey. Am J Med Genet 1986;23:341-52.
-
(1986)
Am J Med Genet
, vol.23
, pp. 341-352
-
-
Brown, W.T.1
Jenkins, E.C.2
Cohen, I.L.3
Fisch, G.S.4
Wolf-Shein, E.C.5
Gross, A.6
-
2
-
-
0022990550
-
Fragile X syndrome: A unique mutation in man
-
2. Nussbaum RL, Ledbetter DH. Fragile X syndrome: a unique mutation in man. Ann Rev Genet 1986;20:109-45.
-
(1986)
Ann Rev Genet
, vol.20
, pp. 109-145
-
-
Nussbaum, R.L.1
Ledbetter, D.H.2
-
3
-
-
0023811094
-
Conference report: Third international workshop on the Fragile X and X-linked mental retardation
-
3. Neri G, Opitz JM, Mikkelson H, Jacobs PA, Davies K, Turner G. Conference report: third international workshop on the Fragile X and X-linked mental retardation. Am J Med Genet 1988;30:1-29.
-
(1988)
Am J Med Genet
, vol.30
, pp. 1-29
-
-
Neri, G.1
Opitz, J.M.2
Mikkelson, H.3
Jacobs, P.A.4
Davies, K.5
Turner, G.6
-
4
-
-
0026347628
-
Fragile X genotype characterized by an unstable region of DNA
-
4. Yu S, Pritchard M, Kremer E, Lynch M, Nancarrow J, Baker E, et al. Fragile X genotype characterized by an unstable region of DNA. Science 1991;252:1179-81.
-
(1991)
Science
, vol.252
, pp. 1179-1181
-
-
Yu, S.1
Pritchard, M.2
Kremer, E.3
Lynch, M.4
Nancarrow, J.5
Baker, E.6
-
5
-
-
0026339303
-
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
-
5. Oberle I, Rousseau F, Heitz D, Kretz C, Devys D, Hanauer A, et al. 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
-
-
Oberle, I.1
Rousseau, F.2
Heitz, D.3
Kretz, C.4
Devys, D.5
Hanauer, A.6
-
6
-
-
0025952727
-
Direct diagnosis by DNA analysis of the Fragile X syndrome of mental retardation
-
6. Rousseau F, Heitz D, Biancalana V, Blumenfeld S, Kretz C, Boue J, 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
-
7
-
-
0025800165
-
Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n
-
7. Kremer EJ, Pritchard M, Lynch M, Yu S, Holman K, Baker E, et al. Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science 1991;252:1711-4.
-
(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
-
8
-
-
0031395376
-
Screening for fragile X syndrome: Information needs for health planners
-
8. Murray J, Cuckle H, Taylor G, Hewison J. Screening for fragile X syndrome: information needs for health planners. J Med Screen 1997;4:60-94.
-
(1997)
J Med Screen
, vol.4
, pp. 60-94
-
-
Murray, J.1
Cuckle, H.2
Taylor, G.3
Hewison, J.4
-
9
-
-
0030376064
-
A simplified six-item checklist for screening for fragile X syndrome in the pediatric population
-
9. Giangreco CA, Steele MW, Aston CE, Cummins JH, Wenger SL. A simplified six-item checklist for screening for fragile X syndrome in the pediatric population. J Pediatr 1996;129:611-4.
-
(1996)
J Pediatr
, vol.129
, pp. 611-614
-
-
Giangreco, C.A.1
Steele, M.W.2
Aston, C.E.3
Cummins, J.H.4
Wenger, S.L.5
-
10
-
-
0030862260
-
Evaluation of mental retardation: Recommendations of a consensus conference
-
10. Curry CJ, Stevenson RE, Aughton D, Byrne J, Carey JC, Cassidy S, et al. Evaluation of mental retardation: recommendations of a consensus conference. Am J Med Genet 1997;72:468-77.
-
(1997)
Am J Med Genet
, vol.72
, pp. 468-477
-
-
Curry, C.J.1
Stevenson, R.E.2
Aughton, D.3
Byrne, J.4
Carey, J.C.5
Cassidy, S.6
-
11
-
-
0000524625
-
A pedigree of mental defect showing sex linkage
-
11. Martin JP, Bell J. A pedigree of mental defect showing sex linkage. J Neurol Psychiatry 1943;6:154-7.
-
(1943)
J Neurol Psychiatry
, vol.6
, pp. 154-157
-
-
Martin, J.P.1
Bell, J.2
-
12
-
-
0014517848
-
A marker X chromosome
-
12. Lubs HA. A marker X chromosome. Am J Hum Genet 1969;21:231-44.
-
(1969)
Am J Hum Genet
, vol.21
, pp. 231-244
-
-
Lubs, H.A.1
-
13
-
-
0018388575
-
Heritable fragile sites on human chromosomes, I. Factors affecting expression in lymphocyte culture
-
13. Sutherland GR. Heritable fragile sites on human chromosomes, I. Factors affecting expression in lymphocyte culture. Am J Hum Genet 1979;31:125-35.
-
(1979)
Am J Hum Genet
, vol.31
, pp. 125-135
-
-
Sutherland, G.R.1
-
14
-
-
0025976184
-
Clinical screening score for the fragile X (Martin-Bell) syndrome
-
14. Laing S, Partington M, Robinson H, Turner G. Clinical screening score for the fragile X (Martin-Bell) syndrome. Am J Med Genet 1991;38:256-9.
-
(1991)
Am J Med Genet
, vol.38
, pp. 256-259
-
-
Laing, S.1
Partington, M.2
Robinson, H.3
Turner, G.4
-
17
-
-
0026345716
-
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
-
17. Fu Y-H, Kuhl DPA, Pizzuti A, Picretti M, Sutcliffe JS, Richards S, et al. 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.A.2
Pizzuti, A.3
Picretti, M.4
Sutcliffe, J.S.5
Richards, S.6
-
18
-
-
0028799833
-
Prevalence of carriers of premutation-size alleles of the FMRI geneBand implications for the population genetics of the Fragile X syndrome
-
18. Rousseau F, Rouillard P, Morel ML, Khandjian EW, Morgan K. Prevalence of carriers of premutation-size alleles of the FMRI geneBand implications for the population genetics of the Fragile X syndrome. Am J Hum Genet 1995;57:1006-18.
-
(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
-
19
-
-
0028969636
-
The fragile X premutation in carriers and its effect on mutation size in offspring
-
19. Fisch GS, Snow K, Thibodeau SN, Chalifaux M, Holden JJA, Nelson DL, et al. The fragile X premutation in carriers and its effect on mutation size in offspring. Am J Hum Genet 1995;56:1147-55.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1147-1155
-
-
Fisch, G.S.1
Snow, K.2
Thibodeau, S.N.3
Chalifaux, M.4
Holden, J.J.A.5
Nelson, D.L.6
-
20
-
-
0027411739
-
The fragile X syndrome: No evidence for any recent mutations
-
20. Smits APT, Dreeson JCFM, Post JG, et al. The fragile X syndrome: no evidence for any recent mutations. J Med Genet 1993;30:94-6.
-
(1993)
J Med Genet
, vol.30
, pp. 94-96
-
-
Smits, A.P.T.1
Dreeson, J.C.F.M.2
Post, J.G.3
-
21
-
-
0023735854
-
Fragile X families in a northern Swedish country
-
21. Holmgren G, Blomiquist K, Son H, Drugge U, Gustavson K-H. Fragile X families in a northern Swedish country. Am J Med Genet 1988;30:673-9.
-
(1988)
Am J Med Genet
, vol.30
, pp. 673-679
-
-
Holmgren, G.1
Blomiquist, K.2
Son, H.3
Drugge, U.4
Gustavson, K.-H.5
-
22
-
-
0027421667
-
Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families
-
22. Steinbach P, Wöhrle D, Tariverdian G, et al. Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families. Hum Genet 1993;92:491-8.
-
(1993)
Hum Genet
, vol.92
, pp. 491-498
-
-
Steinbach, P.1
Wöhrle, D.2
Tariverdian, G.3
-
23
-
-
0027486670
-
Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome
-
23. McConkie-Rosell A, Lachiewicz AM, Spiridigliozzi GA, Tarleton J, Schoenwald S, Phelan C, et al. Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome. Am J Hum Genet 1993;53:800-9.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 800-809
-
-
McConkie-Rosell, A.1
Lachiewicz, A.M.2
Spiridigliozzi, G.A.3
Tarleton, J.4
Schoenwald, S.5
Phelan, C.6
-
24
-
-
0009535506
-
Fragile X syndrome
-
24. Cutillo DM. Fragile X syndrome. Genet Terat 1994;2:1-4.
-
(1994)
Genet Terat
, vol.2
, pp. 1-4
-
-
Cutillo, D.M.1
|