-
1
-
-
0029955189
-
Longitudinal study of cognitive abilities and adaptive behavior levels in fragile X males: A prospective multicenter analysis
-
Fisch GS, Simensen R, Tarleton J, Chalifoux M, Holden JJ, Carpenter N, Howard-Peebles PN, Maddalena A. 1996a. Longitudinal study of cognitive abilities and adaptive behavior levels in fragile X males: A prospective multicenter analysis. Am J Med Genet 64:356-361.
-
(1996)
Am J Med Genet
, vol.64
, pp. 356-361
-
-
Fisch, G.S.1
Simensen, R.2
Tarleton, J.3
Chalifoux, M.4
Holden, J.J.5
Carpenter, N.6
Howard-Peebles, P.N.7
Maddalena, A.8
-
2
-
-
0029945356
-
Rater reliability of fragile X mutation size estimates: A multilaboratory analysis
-
Fisch GS, Carpenter N, Maddalena A, Tarleton J, Julien-Inalsingh C, Holden JJ. 1996b. Rater reliability of fragile X mutation size estimates: A multilaboratory analysis. Am J Med Genet 64: 319-322.
-
(1996)
Am J Med Genet
, vol.64
, pp. 319-322
-
-
Fisch, G.S.1
Carpenter, N.2
Maddalena, A.3
Tarleton, J.4
Julien-Inalsingh, C.5
Holden, J.J.6
-
3
-
-
0033515578
-
Longitudinal changes in cognitive and adaptive behavior in fragile X females: A prospective multicenter analysis
-
Fisch GS, Carpenter N, Holden JJ, Howard-Peebles PN, Maddalena A, Borghgraef M, Steyaert J, Fryns JP. 1999. Longitudinal changes in cognitive and adaptive behavior in fragile X females: A prospective multicenter analysis. Am J Med Genet 83:308-312.
-
(1999)
Am J Med Genet
, vol.83
, pp. 308-312
-
-
Fisch, G.S.1
Carpenter, N.2
Holden, J.J.3
Howard-Peebles, P.N.4
Maddalena, A.5
Borghgraef, M.6
Steyaert, J.7
Fryns, J.P.8
-
4
-
-
0035838379
-
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
-
Hagerman RJ, Leehey M, Heinrichs W, Tassone F, Wilson R, Hills J, Grigsby J, Gage B, Hagerman PJ. 2001. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 57:127-130.
-
(2001)
Neurology
, vol.57
, pp. 127-130
-
-
Hagerman, R.J.1
Leehey, M.2
Heinrichs, W.3
Tassone, F.4
Wilson, R.5
Hills, J.6
Grigsby, J.7
Gage, B.8
Hagerman, P.J.9
-
5
-
-
2342453253
-
Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation
-
Hagerman RJ, Leavitt BR, Farzin F, Jacquemont S, Greco CM, Brunberg JA, Tassone F, Hessl D, Harris SW, Zhang L, Jardini T, Gane LW, Ferranti J, Ruiz L, Leehey MA, Grigsby J, Hagerman PJ. 2004. Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. Am J Hum Genet 74:1051-1056.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 1051-1056
-
-
Hagerman, R.J.1
Leavitt, B.R.2
Farzin, F.3
Jacquemont, S.4
Greco, C.M.5
Brunberg, J.A.6
Tassone, F.7
Hessl, D.8
Harris, S.W.9
Zhang, L.10
Jardini, T.11
Gane, L.W.12
Ferranti, J.13
Ruiz, L.14
Leehey, M.A.15
Grigsby, J.16
Hagerman, P.J.17
-
6
-
-
0025799828
-
A YAC contig across the fragile X site defines the region of fragility
-
Hirst MC, Rack K, Nakahori Y, Roche A, Bell MV, Flynn G, Christadoulou Z, MacKinnon RN, Francis M, Littler AJ, Anand R, Poustka A-M, Lehrach H, Schlessinger D, D'Urso M, Buckle VJ, Davies KE. 1991. A YAC contig across the fragile X site defines the region of fragility. Nucleic Acids Res 19:3283-3288.
-
(1991)
Nucleic Acids Res
, vol.19
, pp. 3283-3288
-
-
Hirst, M.C.1
Rack, K.2
Nakahori, Y.3
Roche, A.4
Bell, M.V.5
Flynn, G.6
Christadoulou, Z.7
MacKinnon, R.N.8
Francis, M.9
Littler, A.J.10
Anand, R.11
Poustka, A.-M.12
Lehrach, H.13
Schlessinger, D.14
D'Urso, M.15
Buckle, V.J.16
Davies, K.E.17
-
7
-
-
0018356614
-
Familial X-linked mental retardation, verbal disability, and marker X chromosomes
-
Howard-Peebles PN, Stoddard GR, Mims MG. 1979. Familial X-linked mental retardation, verbal disability, and marker X chromosomes. Am J Hum Genet 31:214-222.
-
(1979)
Am J Hum Genet
, vol.31
, pp. 214-222
-
-
Howard-Peebles, P.N.1
Stoddard, G.R.2
Mims, M.G.3
-
8
-
-
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
-
10
-
-
0014517848
-
A marker X chromosome
-
Lubs HA. 1969. A marker X chromosome. Am J Hum Genet 21:231-244.
-
(1969)
Am J Hum Genet
, vol.21
, pp. 231-244
-
-
Lubs, H.A.1
-
11
-
-
0035675368
-
No widespread psychological effect of the fragile X premutation in childhood: Evidence from a preliminary controlled study
-
Myers GF, Mazzocco MM, Maddalena A, Reiss AL. 2001. No widespread psychological effect of the fragile X premutation in childhood: Evidence from a preliminary controlled study. J Dev Behav Pediatr 22:353-359.
-
(2001)
J Dev Behav Pediatr
, vol.22
, pp. 353-359
-
-
Myers, G.F.1
Mazzocco, M.M.2
Maddalena, A.3
Reiss, A.L.4
-
12
-
-
0026339303
-
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
-
Oberle I, Rousseau F, Heitz D, Kretz C, Devys D, Hanauer A, Boue J, Bertheas MF, Mandel JL. 1991. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 252:1097-1102.
-
(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
-
14
-
-
0027482074
-
Neurobehavioral effects of the fragile X premutation in adult women: A controlled study
-
Reiss AL, Freund L, Abrams MT, Boehm C, Kazazian H. 1993. Neurobehavioral effects of the fragile X premutation in adult women: A controlled study. Am J Hum Genet 52:884-894.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 884-894
-
-
Reiss, A.L.1
Freund, L.2
Abrams, M.T.3
Boehm, C.4
Kazazian, H.5
-
15
-
-
0034522229
-
Premature ovarian failure in the fragile X syndrome
-
Sherman SL. 2000. Premature ovarian failure in the fragile X syndrome. Am J Med Genet 97:189-194.
-
(2000)
Am J Med Genet
, vol.97
, pp. 189-194
-
-
Sherman, S.L.1
-
18
-
-
0018356614
-
Familial X-linked mental retardation, verbal disability, and marker X chromosomes
-
Sutherland GR, Ashforth PL. 1979. Familial X-linked mental retardation, verbal disability, and marker X chromosomes. Am J Hum Genet 31:214-222.
-
(1979)
Am J Hum Genet
, vol.31
, pp. 214-222
-
-
Sutherland, G.R.1
Ashforth, P.L.2
-
19
-
-
18344388280
-
A single base alteration in the CGG repeat region of FMR1: Possible effects on gene expression and phenotype
-
Tarleton J, Kenneson A, Taylor A, Crandall K, Fletcher R, Casey R, Hart PS, Hatton D, Fisch G, Warren ST. 2002. A single base alteration in the CGG repeat region of FMR1: Possible effects on gene expression and phenotype. J Med Genet 39:196-200.
-
(2002)
J Med Genet
, vol.39
, pp. 196-200
-
-
Tarleton, J.1
Kenneson, A.2
Taylor, A.3
Crandall, K.4
Fletcher, R.5
Casey, R.6
Hart, P.S.7
Hatton, D.8
Fisch, G.9
Warren, S.T.10
-
21
-
-
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 DPA, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang F, Eussen BE, van Ommen GJB, Bloden LAJ, Riggins GJ, Chastain JL, Kunst CB, Galjaard H, Casket 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.1
Pieretti, M.2
Sutcliffe, J.S.3
Fu, Y.H.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
Bloden, L.A.J.13
Riggins, G.J.14
Chastain, J.L.15
Kunst, C.B.16
Galjaard, H.17
Casket, C.T.18
Nelson, D.L.19
Oostra, B.A.20
Warren, S.T.21
more..
-
22
-
-
0022249463
-
Fragile X syndrome: Associated neurological abnormalities and developmental disabilities
-
Wisniewski KE, French JH, Fernando S, Brown WT, Jenkins EC, Friedman E, Hill AL, Miezejeski CM. 1985. Fragile X syndrome: Associated neurological abnormalities and developmental disabilities. Ann Neurol 18:665-669.
-
(1985)
Ann Neurol
, vol.18
, pp. 665-669
-
-
Wisniewski, K.E.1
French, J.H.2
Fernando, S.3
Brown, W.T.4
Jenkins, E.C.5
Friedman, E.6
Hill, A.L.7
Miezejeski, C.M.8
-
23
-
-
0023780046
-
Variable expression of the fragile X syndrome in heterozygous females of normal intelligence
-
Wolff PH, Gardner J, Lappen J, Paccia J, Meryash D. 1988. Variable expression of the fragile X syndrome in heterozygous females of normal intelligence. Am J Med Genet 30:213-225.
-
(1988)
Am J Med Genet
, vol.30
, pp. 213-225
-
-
Wolff, P.H.1
Gardner, J.2
Lappen, J.3
Paccia, J.4
Meryash, D.5
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