-
1
-
-
0028234805
-
Molecular-neurobehavioral associations in females with the fragile X full mutation
-
Abrams MT, Reiss AL, Freund LS, Baumgardner TL, Chase GA, Denckla MB. 1994. Molecular-neurobehavioral associations in females with the fragile X full mutation. Am J Med Genet 51:317-327.
-
(1994)
Am J Med Genet
, vol.51
, pp. 317-327
-
-
Abrams, M.T.1
Reiss, A.L.2
Freund, L.S.3
Baumgardner, T.L.4
Chase, G.A.5
Denckla, M.B.6
-
2
-
-
0034822840
-
Profile of cognitive functioning in women with the fragile X mutation
-
Bennetto L, Pennington B, Porter D, Taylor AK, Hagerman RJ. 2001. Profile of cognitive functioning in women with the fragile X mutation. Neuropsychology 15:290-299.
-
(2001)
Neuropsychology
, vol.15
, pp. 290-299
-
-
Bennetto, L.1
Pennington, B.2
Porter, D.3
Taylor, A.K.4
Hagerman, R.J.5
-
3
-
-
0027375451
-
Rapid fragile X carrier screening and prenatal diagnosis by a non-radioactive PCR test
-
Brown WT, Houck G Jr, Jeziorowska A, Levinson F, Ding X-H, Dobkin C, Zhong N, et al. 1993. Rapid fragile X carrier screening and prenatal diagnosis by a non-radioactive PCR test. J Am Med Assoc 270:1569-1575.
-
(1993)
J Am Med Assoc
, vol.270
, pp. 1569-1575
-
-
Brown, W.T.1
Houck G., Jr.2
Jeziorowska, A.3
Levinson, F.4
Ding, X.-H.5
Dobkin, C.6
Zhong, N.7
-
4
-
-
0029943226
-
Mosaicism for the FMR1 gene influences adaptive skills development in fragile X-affected males
-
Cohen IL, Nolin SL, Sudhalter V, Ding H, Dobkin CS, Brown WT. 1996. Mosaicism for the FMR1 gene influences adaptive skills development in fragile X-affected males. Am J Med Genet 64:498-502.
-
(1996)
Am J Med Genet
, vol.64
, pp. 498-502
-
-
Cohen, I.L.1
Nolin, S.L.2
Sudhalter, V.3
Ding, H.4
Dobkin, C.S.5
Brown, W.T.6
-
5
-
-
0031790762
-
The nature of the spatial deficit in young females with Fragile X syndrome: A neuropsychological and molecular perspective
-
Cornish KM, Munir F, Cross G. 1998. The nature of the spatial deficit in young females with Fragile X syndrome: A neuropsychological and molecular perspective. Neuropsychologia 36:1239-1246.
-
(1998)
Neuropsychologia
, vol.36
, pp. 1239-1246
-
-
Cornish, K.M.1
Munir, F.2
Cross, G.3
-
6
-
-
0032951157
-
Spatial cognition in males with Fragile-X syndrome: Evidence for a neuropsychological phenotype
-
Cornish KM, Munir F, Cross G. 1999. Spatial cognition in males with Fragile-X syndrome: Evidence for a neuropsychological phenotype. Cortex 35:263-271.
-
(1999)
Cortex
, vol.35
, pp. 263-271
-
-
Cornish, K.M.1
Munir, F.2
Cross, G.3
-
7
-
-
0025174057
-
Neuropsychological dimensions of the fragile X syndrome: Support for a non-dominant hemisphere dysfunction hypothesis
-
Crowe SF, Hay DA. 1990. Neuropsychological dimensions of the fragile X syndrome: Support for a non-dominant hemisphere dysfunction hypothesis. Neuropsychologia 28:9-16.
-
(1990)
Neuropsychologia
, vol.28
, pp. 9-16
-
-
Crowe, S.F.1
Hay, D.A.2
-
8
-
-
19144366486
-
Mental status of females with an FMR1 gene full mutation
-
de Vries BB, Wiegers AM, Smits AP, Mohkamsing S, Duivenvoorden HJ, Fryns JP, Curfs LM, Halley DJ, Oostra BA, van den Ouveland AM, Niermeijer MF. 1996. Mental status of females with an FMR1 gene full mutation. Am J Med Genet 58:1025-1032.
-
(1996)
Am J Med Genet
, vol.58
, pp. 1025-1032
-
-
De Vries, B.B.1
Wiegers, A.M.2
Smits, A.P.3
Mohkamsing, S.4
Duivenvoorden, H.J.5
Fryns, J.P.6
Curfs, L.M.7
Halley, D.J.8
Oostra, B.A.9
Van den Ouveland, A.M.10
Niermeijer, M.F.11
-
9
-
-
0027176361
-
The FMR-1 protein is cytoplasmic, most abundant in neurons, and appears normal in carriers of a fragile X premutation
-
Devys D, Lutz Y, Rouyer N, Bellocq JP, Mandel JL. 1993. The FMR-1 protein is cytoplasmic, most abundant in neurons, and appears normal in carriers of a fragile X premutation. Nat Genet 4:335-340.
-
(1993)
Nat Genet
, vol.4
, pp. 335-340
-
-
Devys, D.1
Lutz, Y.2
Rouyer, N.3
Bellocq, J.P.4
Mandel, J.L.5
-
10
-
-
0028979161
-
Quantitative comparison of FMR1 gene expression in normal and premutation alleles
-
Feng Y, Lakkis L, Devys D, Warren ST. 1995. Quantitative comparison of FMR1 gene expression in normal and premutation alleles. Am J Hum Genet 56:106-113.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 106-113
-
-
Feng, Y.1
Lakkis, L.2
Devys, D.3
Warren, S.T.4
-
11
-
-
0029899583
-
Fragile-X carrier females: Evidence for a distinct psychopathological phenotype?
-
Franke P, Maier W, Hautzinger M, Weiffenbach O, Gansicke M, Iwers B, Poustka F, Croquette MF, Froster U, Schwab SG, Poustka F, Hautzinger M, Maier W. 1996. Fragile-X carrier females: Evidence for a distinct psychopathological phenotype? Am J Med Genet 64:334-339.
-
(1996)
Am J Med Genet
, vol.64
, pp. 334-339
-
-
Franke, P.1
Maier, W.2
Hautzinger, M.3
Weiffenbach, O.4
Gansicke, M.5
Iwers, B.6
Poustka, F.7
Croquette, M.F.8
Froster, U.9
Schwab, S.G.10
Poustka, F.11
Hautzinger, M.12
Maier, W.13
-
12
-
-
0032541268
-
Genotype-phenotype relationship in female carriers of premutation and full mutation of FMR-1
-
Franke P, Leboyer M, Gansicke M, Weiffenbach O, Biancalana V, Cornillet-Lefebre P, Croquette MF, Froster U, Schwab SG, Poustka F, Hautzinger M, Maier W. 1998. Genotype-phenotype relationship in female carriers of premutation and full mutation of FMR-1. Psychiatry Res 80:113-127.
-
(1998)
Psychiatry Res
, vol.80
, pp. 113-127
-
-
Franke, P.1
Leboyer, M.2
Gansicke, M.3
Weiffenbach, O.4
Biancalana, V.5
Cornillet-Lefebre, P.6
Croquette, M.F.7
Froster, U.8
Schwab, S.G.9
Poustka, F.10
Hautzinger, M.11
Maier, W.12
-
13
-
-
0025974956
-
Cognitive profiles associated with the fragile X syndrome in males and females
-
Freund LS, Reiss AL. 1991. Cognitive profiles associated with the fragile X syndrome in males and females. Am J Med Genet 38:542-547.
-
(1991)
Am J Med Genet
, vol.38
, pp. 542-547
-
-
Freund, L.S.1
Reiss, A.L.2
-
14
-
-
0029887817
-
Cerebellum implicated in sensory acquisition and discrimination rather than control
-
Gao JH, Parsons LM, Bower JM, Xiong J, Li J, Fox PT. 1996. Cerebellum implicated in sensory acquisition and discrimination rather than control. Science 272(5261):545-547.
-
(1996)
Science
, vol.272
, Issue.5261
, pp. 545-547
-
-
Gao, J.H.1
Parsons, L.M.2
Bower, J.M.3
Xiong, J.4
Li, J.5
Fox, P.T.6
-
15
-
-
0036345801
-
Neuronal intranuclear inclusions in a new cerebellar tremor-ataxia syndrome among fragile X carriers
-
Greco CM, Hagerman RJ, Tassone F, Chadley AE, Del Bigio MR, Jacquemont S, Leehey M, Hagerman PJ. 2002. Neuronal intranuclear inclusions in a new cerebellar tremor-ataxia syndrome among fragile X carriers. Brain 125:1760-1771.
-
(2002)
Brain
, vol.125
, pp. 1760-1771
-
-
Greco, C.M.1
Hagerman, R.J.2
Tassone, F.3
Chadley, A.E.4
Del Bigio, M.R.5
Jacquemont, S.6
Leehey, M.7
Hagerman, P.J.8
-
16
-
-
0032012318
-
Fragile X syndrome. Clinical, electroencelographic, and neuroimaging characteristics
-
Guerreiro MM, Camargo EE, Kato M, Marques-de-Faria AP, Sciasca SM, Guerreiro CA, Netto JR, Moura-Ribeiro MV. 1998. Fragile X syndrome. Clinical, electroencelographic, and neuroimaging characteristics. Arq Neuropsiqiuatr 56:18-23.
-
(1998)
Arq Neuropsiqiuatr
, vol.56
, pp. 18-23
-
-
Guerreiro, M.M.1
Camargo, E.E.2
Kato, M.3
Marques-de-Faria, A.P.4
Sciasca, S.M.5
Guerreiro, C.A.6
Netto, J.R.7
Moura-Ribeiro, M.V.8
-
18
-
-
0001966753
-
Physical and behavioral phenotype
-
Hagerman RJ, Hagerman PJ, editors. Baltimore: The Johns Hopkins University Press
-
Hagerman RJ. 2002. Physical and behavioral phenotype. In: Hagerman RJ, Hagerman PJ, editors. Fragile X syndrome: Diagnosis, treatment, and research. 3rd edition. Baltimore: The Johns Hopkins University Press. 3-109.
-
(2002)
Fragile X Syndrome: Diagnosis, Treatment, and Research. 3rd Edition
, pp. 3-109
-
-
Hagerman, R.J.1
-
19
-
-
0026500880
-
Fragile X girls: Physical and neurocognitive status and outcome
-
Hagerman RJ, Jackson C, Amiri K, Silverman C, O'Connor R, Sobesky WE. 1992. Fragile X girls: Physical and neurocognitive status and outcome. Pediatrics 89:395-400.
-
(1992)
Pediatrics
, vol.89
, pp. 395-400
-
-
Hagerman, R.J.1
Jackson, C.2
Amiri, K.3
Silverman, C.4
O'Connor, R.5
Sobesky, W.E.6
-
20
-
-
0028264043
-
High-functioning fragile X males: Demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression
-
Hagerman RJ, Hull CE, Safanda JF, Carpenter I, Stanley LW, O'Connor R, Seydel C, Maccocco MM, Snow K, Thibodeau SN, Kuhl D, Nelson DL, Caskey CT, Taylor A. 1994. High-functioning fragile X males: Demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression. Am J Med Genet 51:298-308.
-
(1994)
Am J Med Genet
, vol.51
, pp. 298-308
-
-
Hagerman, R.J.1
Hull, C.E.2
Safanda, J.F.3
Carpenter, I.4
Stanley, L.W.5
O'Connor, R.6
Seydel, C.7
Maccocco, M.M.8
Snow, K.9
Thibodeau, S.N.10
Kuhl, D.11
Nelson, D.L.12
Caskey, C.T.13
Taylor, A.14
-
21
-
-
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
-
22
-
-
0027397928
-
Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome
-
Hinds HL, Ashley CT, Sutcliffe JS, Nelson DL, Warren ST, Housman DE, Schalling M. 1993. Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome. Nat Genet 3(1):36-43.
-
(1993)
Nat Genet
, vol.3
, Issue.1
, pp. 36-43
-
-
Hinds, H.L.1
Ashley, C.T.2
Sutcliffe, J.S.3
Nelson, D.L.4
Warren, S.T.5
Housman, D.E.6
Schalling, M.7
-
23
-
-
84990493873
-
On the robust analysis of pedigree data
-
Huggins RA. 1993. On the robust analysis of pedigree data. Aust J Stat 35:43-57.
-
(1993)
Aust J Stat
, vol.35
, pp. 43-57
-
-
Huggins, R.A.1
-
24
-
-
0033515679
-
Genotype, molecular phenotype, and cognitive phenotype: Correlations in fragile X syndrome
-
Kaufman WE, Abrams MT, Chen W, Reiss AL. 1999. Genotype, molecular phenotype, and cognitive phenotype: Correlations in fragile X syndrome. Am J Med Genet 83:286-295.
-
(1999)
Am J Med Genet
, vol.83
, pp. 286-295
-
-
Kaufman, W.E.1
Abrams, M.T.2
Chen, W.3
Reiss, A.L.4
-
25
-
-
0034936795
-
Functional neuroanatomy of visuospatial working memory in fragile X syndrome: Relation to behavioral and molecular measures
-
Kwon H, Menon V, Eliez S, Warsofsky IS, White CD, Dyer-Friedman J, Taylor AK, Glover GH, Reiss AL. 2001. Functional neuroanatomy of visuospatial working memory in fragile X syndrome: Relation to behavioral and molecular measures. Am J Psychiatry 158:1040-1051.
-
(2001)
Am J Psychiatry
, vol.158
, pp. 1040-1051
-
-
Kwon, H.1
Menon, V.2
Eliez, S.3
Warsofsky, I.S.4
White, C.D.5
Dyer-Friedman, J.6
Taylor, A.K.7
Glover, G.H.8
Reiss, A.L.9
-
26
-
-
0012287973
-
Extensions to pedigree analysis. III. Variance components by the scoring method
-
Lange K, Westlake J, Spence MA. 1976. Extensions to pedigree analysis. III. Variance components by the scoring method. Ann Hum Genet 50:385-398.
-
(1976)
Ann Hum Genet
, vol.50
, pp. 385-398
-
-
Lange, K.1
Westlake, J.2
Spence, M.A.3
-
27
-
-
0027361706
-
Genotype-phenotype relationships in fragile X syndrome: A family study
-
Loesch DZ, Huggins R, Hay DA, Gedeon AK, Mulley JC, Sutherland GR. 1993. Genotype-phenotype relationships in fragile X syndrome: A family study. Am J Hum Genet 53:1064-1073.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 1064-1073
-
-
Loesch, D.Z.1
Huggins, R.2
Hay, D.A.3
Gedeon, A.K.4
Mulley, J.C.5
Sutherland, G.R.6
-
28
-
-
0028237294
-
Transmitting males and carrier females in fragile X-revisited
-
Loesch DZ, Hay DA, Mulley J. 1994. Transmitting males and carrier females in fragile X-revisited. Am J Med Genet 51:392-399.
-
(1994)
Am J Med Genet
, vol.51
, pp. 392-399
-
-
Loesch, D.Z.1
Hay, D.A.2
Mulley, J.3
-
29
-
-
0037079905
-
Application of robust pedigree analysis in studies of complex genotype-phenotype relationships in fragile X syndrome
-
Loesch DZ, Huggins RM, Taylor AK. 2002a. Application of robust pedigree analysis in studies of complex genotype-phenotype relationships in fragile X syndrome. Am J Med Genet 107:136-142.
-
(2002)
Am J Med Genet
, vol.107
, pp. 136-142
-
-
Loesch, D.Z.1
Huggins, R.M.2
Taylor, A.K.3
-
30
-
-
0036927063
-
Effect of the deficits of fragile X mental retardation protein (FMRP) on cognitive status of fragile X males and females assessed by robust pedigree analysis
-
Loesch DZ, Huggins RM, Bui MM, Epstein J, Taylor AK, Hagerman RJ. 2002b. Effect of the deficits of fragile X mental retardation protein (FMRP) on cognitive status of fragile X males and females assessed by robust pedigree analysis. J Dev Behav Pediatr 23:416-423.
-
(2002)
J Dev Behav Pediatr
, vol.23
, pp. 416-423
-
-
Loesch, D.Z.1
Huggins, R.M.2
Bui, M.M.3
Epstein, J.4
Taylor, A.K.5
Hagerman, R.J.6
-
32
-
-
0027674521
-
The neurocognitive phenotype of female carriers of fragile X: Further evidence for specificity
-
Mazzocco MM, Pennington BF, Hagerman RJ. 1993. The neurocognitive phenotype of female carriers of fragile X: Further evidence for specificity. J Dev Behav Pediatr 14:328-335.
-
(1993)
J Dev Behav Pediatr
, vol.14
, pp. 328-335
-
-
Mazzocco, M.M.1
Pennington, B.F.2
Hagerman, R.J.3
-
33
-
-
0029895568
-
Molecular-clinical correlations in males with an expanded FMR1 mutation
-
Merenstein SA, Sobesky WE, Taylor AK, Riddle JE, Tran HX, Hagerman RJ. 1996. Molecular-clinical correlations in males with an expanded FMR1 mutation. Am J Med Genet 64(2):388-394.
-
(1996)
Am J Med Genet
, vol.64
, Issue.2
, pp. 388-394
-
-
Merenstein, S.A.1
Sobesky, W.E.2
Taylor, A.K.3
Riddle, J.E.4
Tran, H.X.5
Hagerman, R.J.6
-
34
-
-
0034256980
-
A neuropsychological profile of attention deficits in young males with fragile X syndrome
-
Munir F, Cornish KM, Wilding J. 2000. A neuropsychological profile of attention deficits in young males with fragile X syndrome. Neuropsychologia 38:1261-1270.
-
(2000)
Neuropsychologia
, vol.38
, pp. 1261-1270
-
-
Munir, F.1
Cornish, K.M.2
Wilding, J.3
-
35
-
-
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, Hannauer A, Boue I, Bertheas MF, Mandel JL. 1991. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 252:1087-1102.
-
(1991)
Science
, vol.252
, pp. 1087-1102
-
-
Oberle, I.1
Rousseau, F.2
Heitz, D.3
Kretz, C.4
Devys, D.5
Hannauer, A.6
Boue, I.7
Bertheas, M.F.8
Mandel, J.L.9
-
36
-
-
0035878553
-
Double-stranded RNA-dependent protein kinase, PKR, binds preferentially to Huntington's disease (HD) transcripts and is activated in HD tissue
-
Peel AL, Rao RV, Cottrell BA, Hayden MR, Ellerby LM, Bredeson DE. 2001. Double-stranded RNA-dependent protein kinase, PKR, binds preferentially to Huntington's disease (HD) transcripts and is activated in HD tissue. Hum Mol Genet 10(15):1531-1538.
-
(2001)
Hum Mol Genet
, vol.10
, Issue.15
, pp. 1531-1538
-
-
Peel, A.L.1
Rao, R.V.2
Cottrell, B.A.3
Hayden, M.R.4
Ellerby, L.M.5
Bredeson, D.E.6
-
37
-
-
0025833298
-
Absence of expression of the FMR1 gene in the fragile X syndrome
-
Pieretti M, Zhang F, Fu Y-H, Warren ST, Oostra BA, Caskey CT, Nelson DL. 1991. Absence of expression of the FMR1 gene in the fragile X syndrome. Cell 66:817-822.
-
(1991)
Cell
, vol.66
, pp. 817-822
-
-
Pieretti, M.1
Zhang, F.2
Fu, Y.-H.3
Warren, S.T.4
Oostra, B.A.5
Caskey, C.T.6
Nelson, D.L.7
-
38
-
-
0029942861
-
The cerebellum: A neuronal learning machine?
-
Raymond JL, Lisberger SG, Mauk MD. 1996. The cerebellum: A neuronal learning machine? Science 272(5265):1126-1131.
-
(1996)
Science
, vol.272
, Issue.5265
, pp. 1126-1131
-
-
Raymond, J.L.1
Lisberger, S.G.2
Mauk, M.D.3
-
39
-
-
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
-
40
-
-
0033839568
-
Brain imaging in neurogenetic conditions: Realizing the potential of behavioral neurogenetics research
-
Reiss AL, Eliez S, Smith JE, Patwardhan A, Haberecht M. 2000. Brain imaging in neurogenetic conditions: Realizing the potential of behavioral neurogenetics research. MRDD Res Rev 6:186-197.
-
(2000)
MRDD Res Rev
, vol.6
, pp. 186-197
-
-
Reiss, A.L.1
Eliez, S.2
Smith, J.E.3
Patwardhan, A.4
Haberecht, M.5
-
41
-
-
0031978146
-
Phenotypic involvement in females with the FMR1 gene mutation
-
Riddle JE, Cheema A, Sobesky WE, Gardner SC, Taylor AK, Pennington BF, Hagerman RJ. 1998. Phenotypic involvement in females with the FMR1 gene mutation. Am J Ment Retard 102(6):590-601.
-
(1998)
Am J Ment Retard
, vol.102
, Issue.6
, pp. 590-601
-
-
Riddle, J.E.1
Cheema, A.2
Sobesky, W.E.3
Gardner, S.C.4
Taylor, A.K.5
Pennington, B.F.6
Hagerman, R.J.7
-
42
-
-
0028141919
-
A multicenter study on genotype-phenotype correlations in the fragile X syndrome, usingdirect diagnosis with probe STB12.3: The first 2,253 cases
-
Rousseau F, Heitz D, Tarleton J, Mac-Pherson J, Malmgren H, Dahl N, Barnicot A, Mathew C, Mornet E, Tejada I, Maddalena A, Spiegel R, Schinzel A, Marcos JAG, Schorderet DF, Schaap T, Maccioni L, Russo S, Jacobs PA, Schwartz C, Mandel JL. 1994. A multicenter study on genotype-phenotype correlations in the fragile X syndrome, usingdirect diagnosis with probe STB12.3: The first 2,253 cases. Am J Hum Genet 55:225-237.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 225-237
-
-
Rousseau, F.1
Heitz, D.2
Tarleton, J.3
Mac-Pherson, J.4
Malmgren, H.5
Dahl, N.6
Barnicot, A.7
Mathew, C.8
Mornet, E.9
Tejada, I.10
Maddalena, A.11
Spiegel, R.12
Schinzel, A.13
Marcos, J.A.G.14
Schorderet, D.F.15
Schaap, T.16
Maccioni, L.17
Russo, S.18
Jacobs, P.A.19
Schwartz, C.20
Mandel, J.L.21
more..
-
44
-
-
0025166605
-
Conversational analyses of males with fragile X, Down syndrome, and autism: A comparison of the emergence of deviant language
-
Sudhalter V, Cohen IL, Silverman WP, Wolf-Schein EG. 1990. Conversational analyses of males with fragile X, Down syndrome, and autism: A comparison of the emergence of deviant language. Am J Ment Retard 94:431-441.
-
(1990)
Am J Ment Retard
, vol.94
, pp. 431-441
-
-
Sudhalter, V.1
Cohen, I.L.2
Silverman, W.P.3
Wolf-Schein, E.G.4
-
45
-
-
0026057786
-
Syntactic delay and pragmatic deviance in the language of fragile X males
-
Sudhalter V, Scarborough HS, Cohen IL. 1991. Syntactic delay and pragmatic deviance in the language of fragile X males. Am J Med Genet 38:493-497.
-
(1991)
Am J Med Genet
, vol.38
, pp. 493-497
-
-
Sudhalter, V.1
Scarborough, H.S.2
Cohen, I.L.3
-
46
-
-
0026741085
-
Expressive semantic deficit in the productive language of males with fragile X syndrome
-
Sudhalter V, Maranion M, Brooks P. 1992. Expressive semantic deficit in the productive language of males with fragile X syndrome. Am J Med Genet 43:65-71.
-
(1992)
Am J Med Genet
, vol.43
, pp. 65-71
-
-
Sudhalter, V.1
Maranion, M.2
Brooks, P.3
-
47
-
-
0033612144
-
FMRP expressions as a potential prognostic indicator in fragile X syndrome
-
Tassone F, Hagerman RJ, Ikle D, Dyer PN, Lampe M, Willemsen R, Oostra BA, Taylor AK. 1999. FMRP expressions as a potential prognostic indicator in fragile X syndrome. Am J Med Genet 84:250-261.
-
(1999)
Am J Med Genet
, vol.84
, pp. 250-261
-
-
Tassone, F.1
Hagerman, R.J.2
Ikle, D.3
Dyer, P.N.4
Lampe, M.5
Willemsen, R.6
Oostra, B.A.7
Taylor, A.K.8
-
48
-
-
0033940157
-
Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in fragile X syndrome
-
Tassone F, Hagerman RJ, Taylor AK, Gane LW, Godfrey TE, Hagerman RJ. 2000a. Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in fragile X syndrome. Am J Hum Genet 66:6-15.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 6-15
-
-
Tassone, F.1
Hagerman, R.J.2
Taylor, A.K.3
Gane, L.W.4
Godfrey, T.E.5
Hagerman, R.J.6
-
49
-
-
0034684031
-
Fragile X males with unmethylated, full mutation nucleotides repeat expansions and elevated levels of FMR1 messenger
-
Tassone F, Hagerman RJ, Loesch DZ, Lachiewicz A, Taylor AK, Hagerman PJ. 2000b. Fragile X males with unmethylated, full mutation nucleotides repeat expansions and elevated levels of FMR1 messenger. Am J Med Genet 94:232-236.
-
(2000)
Am J Med Genet
, vol.94
, pp. 232-236
-
-
Tassone, F.1
Hagerman, R.J.2
Loesch, D.Z.3
Lachiewicz, A.4
Taylor, A.K.5
Hagerman, P.J.6
-
51
-
-
84942951309
-
Molecular predictors of involvement of fragile X females
-
Taylor AK, Safanda MZ, Fall C. 1994. Molecular predictors of involvement of fragile X females. JAMA 271:507-514.
-
(1994)
JAMA
, vol.271
, pp. 507-514
-
-
Taylor, A.K.1
Safanda, M.Z.2
Fall, C.3
-
53
-
-
0033983537
-
Expanded CUG repeat RNAs form hairpins that activate the double-stranded RNA-dependent protein kinase PKR
-
Tian B, White RJ, Xia T, Welle S, Turner DH, Mathews MB, Thornton CA. 2000. Expanded CUG repeat RNAs form hairpins that activate the double-stranded RNA-dependent protein kinase PKR. RNA 6:79-87.
-
(2000)
RNA
, vol.6
, pp. 79-87
-
-
Tian, B.1
White, R.J.2
Xia, T.3
Welle, S.4
Turner, D.H.5
Mathews, M.B.6
Thornton, C.A.7
-
54
-
-
0025905795
-
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation on fragile X syndrome
-
Verkerk AJMH, Pieretti M, Sutcliffe JS, Fu Y-H, Kuhl DPA, Pizzuit A, Reiner O, Richards S, Victoria MF, Zhang F, Eussen BE, VanOmmen GJB, Blonden LAJ, Riggins GJ, Chastain JL, Kunst CB, Galjaard H, Caskey TC, 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 on fragile X syndrome. Cell 65:905-914.
-
(1991)
Cell
, vol.65
, pp. 905-914
-
-
Verkerk, A.J.M.H.1
Pieretti, M.2
Sutcliffe, J.S.3
Fu, Y.-H.4
Kuhl, D.P.A.5
Pizzuit, A.6
Reiner, O.7
Richards, S.8
Victoria, M.F.9
Zhang, F.10
Eussen, B.E.11
VanOmmen, G.J.B.12
Blonden, L.A.J.13
Riggins, G.J.14
Chastain, J.L.15
Kunst, C.B.16
Galjaard, H.17
Caskey, T.C.18
Nelson, D.L.19
Oostra, B.A.20
Warren, S.T.21
more..
-
58
-
-
0033515497
-
Synaptic synthesis of the Fragile X protein: Possible involvement in synapse maturation and elimination
-
Weiler IJ, Greenough WT. 1999. Synaptic synthesis of the Fragile X protein: Possible involvement in synapse maturation and elimination. Am J Med Genet 83:248-522.
-
(1999)
Am J Med Genet
, vol.83
, pp. 248-522
-
-
Weiler, I.J.1
Greenough, W.T.2
-
59
-
-
0345528532
-
Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation
-
Weiler IJ, Irwin SA, Klintsova AY, Spencer CM, Brazelton AD, Miyashiro K, Comery TA, et al. 1997. Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation. Proc Natl Acad Sci USA 94:5395-5400.
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 5395-5400
-
-
Weiler, I.J.1
Irwin, S.A.2
Klintsova, A.Y.3
Spencer, C.M.4
Brazelton, A.D.5
Miyashiro, K.6
Comery, T.A.7
-
60
-
-
0031971691
-
Unusual mutations in high functioning fragile X males: Apparent instability of expanded unmethylated CGG repeats
-
Whorle D, Salat U, Glaser D, Mucke J, Meisel-Stosiek M, Schindler D, Vogel W, Steinbach P. 1998. Unusual mutations in high functioning fragile X males: Apparent instability of expanded unmethylated CGG repeats. J Med Genet 35:103-111.
-
(1998)
J Med Genet
, vol.35
, pp. 103-111
-
-
Whorle, D.1
Salat, U.2
Glaser, D.3
Mucke, J.4
Meisel-Stosiek, M.5
Schindler, D.6
Vogel, W.7
Steinbach, P.8
-
61
-
-
0029028295
-
Rapid antibody test for fragile X syndrome
-
Willemsen R, Mohkamsig S, De Vries B, Devys D, Ouweland A. 1995. Rapid antibody test for fragile X syndrome. The Lancet 345:1147-1148.
-
(1995)
The Lancet
, vol.345
, pp. 1147-1148
-
-
Willemsen, R.1
Mohkamsig, S.2
De Vries, B.3
Devys, D.4
Ouweland, A.5
-
62
-
-
0012293048
-
Developmental localization of fragile X mRNA in rat brain
-
293.6
-
Witt RM, Kaspar BK, Brazelton AD, Comery TA, Craig AM, Weler IJ, Greenough WT. 1995. Developmental localization of fragile X mRNA in rat brain. Soc Neurosci Abstr 21:1 (293.6).
-
(1995)
Soc Neurosci Abstr
, vol.21
, pp. 1
-
-
Witt, R.M.1
Kaspar, B.K.2
Brazelton, A.D.3
Comery, T.A.4
Craig, A.M.5
Weler, I.J.6
Greenough, W.T.7
|