-
1
-
-
2542507386
-
A study of the distributional characteristics of FMR1 transcript levels in 238 individuals
-
doi:10.1007/s00439-004-1086-x
-
Allen, E. G., He, W., Yadav-Shah, M., & Sherman, S. L. (2004). A study of the distributional characteristics of FMR1 transcript levels in 238 individuals. Human Genetics, 114, 439-447. doi:10.1007/s00439-004-1086-x
-
(2004)
Human Genetics
, vol.114
, pp. 439-447
-
-
Allen, E.G.1
He, W.2
Yadav-Shah, M.3
Sherman, S.L.4
-
2
-
-
0034822840
-
Profile of cognitive functioning in women with the fragile X mutation
-
doi:10.1037/0894-4105.15.2.290
-
Bennetto, L., Pennington, B. F., Porter, D., Taylor, A. K., & Hagerman, R. J. (2001). Profile of cognitive functioning in women with the fragile X mutation. Neuropsychology, 15, 290-299. doi:10.1037/0894-4105.15.2.290
-
(2001)
Neuropsychology
, vol.15
, pp. 290-299
-
-
Bennetto, L.1
Pennington, B.F.2
Porter, D.3
Taylor, A.K.4
Hagerman, R.J.5
-
4
-
-
54349095417
-
The primary cognitive deficit among males with fragile X-associated tremor/ataxia syndrome (FXTAS) is a dysexecutive syndrome
-
Brega, A. G., Goodrich, G., Bennett, R. E., Hessl, D., Engle, K., Leehey, M. A., . . . Grigsby, J. (2008). The primary cognitive deficit among males with fragile X-associated tremor/ataxia syndrome (FXTAS) is a dysexecutive syndrome. Journal of Clinical and Experimental Neuropsychology, 30, 853-869.
-
(2008)
Journal of Clinical and Experimental Neuropsychology
, vol.30
, pp. 853-869
-
-
Brega, A.G.1
Goodrich, G.2
Bennett, R.E.3
Hessl, D.4
Engle, K.5
Leehey, M.A.6
Grigsby, J.7
-
5
-
-
0027375451
-
Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test
-
doi:10.1001/ jama.1993.03510130075034
-
Brown, W. T., Houck, G. E., Jr., Jeziorowska, A., Levinson, F. N., Ding,X., Dobkin, C., . . . Jenkins, E. C. (1993). Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test. Journal of the American Medical Association, 270, 1569-1575. doi:10.1001/ jama.1993.03510130075034
-
(1993)
Journal of the American Medical Association
, vol.270
, pp. 1569-1575
-
-
Brown, W.T.1
Houck Jr., G.E.2
Jeziorowska, A.3
Levinson, F.N.4
Ding, X.5
Dobkin, C.6
Jenkins, E.C.7
-
6
-
-
0036846189
-
Fragile X premutation carriers: Characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction
-
Brunberg, J. A., Jacquemont, S., Hagerman, R. J., Berry-Kravis, E. M., Grigsby, J., Leehey, M. A., . . . Hagerman, P. J. (2002). Fragile X premutation carriers: Characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. American Journal of Neuroradiology, 23, 1757-1766.
-
(2002)
American Journal of Neuroradiology
, vol.23
, pp. 1757-1766
-
-
Brunberg, J.A.1
Jacquemont, S.2
Hagerman, R.J.3
Berry-Kravis, E.M.4
Grigsby, J.5
Leehey, M.A.6
Hagerman, P.J.7
-
8
-
-
42949147652
-
Expanded clinical phenotype of women with the FMR1 premutation
-
doi:10.1002/ajmg.a.32060
-
Coffey, S. M., Cook, K., Tartaglia, N., Tassone, F., Nguyen, D. V., Pan, R., . . . Hagerman, R. J. (2008). Expanded clinical phenotype of women with the FMR1 premutation. American Journal of Medicine Genet A, 146A, 1009-1016. doi:10.1002/ajmg.a.32060
-
(2008)
American Journal of Medicine Genet A
, vol.146 A
, pp. 1009-1016
-
-
Coffey, S.M.1
Cook, K.2
Tartaglia, N.3
Tassone, F.4
Nguyen, D.V.5
Pan, R.6
Hagerman, R.J.7
-
9
-
-
11944272254
-
A power primer
-
doi:10.1037/0033-2909.112.1.155
-
Cohen, J. (1992). A power primer. Psychological Bulletin, 112, 155-159. doi:10.1037/0033-2909.112.1.155
-
(1992)
Psychological Bulletin
, vol.112
, pp. 155-159
-
-
Cohen, J.1
-
10
-
-
33750335320
-
Molecular and imaging correlates of the fragile X-associated tremor/ataxia syndrome
-
doi: 10.1212/01.wnl.0000239837.57475.3a
-
Cohen, S., Masyn, K., Adams, J., Hessl, D., Rivera, S., Tassone, F., . . . Hagerman, R. (2006). Molecular and imaging correlates of the fragile X-associated tremor/ataxia syndrome. Neurology, 67, 1426-1431. doi: 10.1212/01.wnl.0000239837.57475.3a
-
(2006)
Neurology
, vol.67
, pp. 1426-1431
-
-
Cohen, S.1
Masyn, K.2
Adams, J.3
Hessl, D.4
Rivera, S.5
Tassone, F.6
Hagerman, R.7
-
11
-
-
44049108271
-
The fragile X continuum: New advances and perspectives
-
doi:10.1111/j.1365-2788.2008.01056.x
-
Cornish, K., Turk, J., & Hagerman, R. (2008a). The fragile X continuum: New advances and perspectives. Journal of Intellectual Disability Research, 52(Pt. 6), 469-482. doi:10.1111/j.1365-2788.2008.01056.x
-
(2008)
Journal of Intellectual Disability Research
, vol.52
, Issue.PART 6
, pp. 469-482
-
-
Cornish, K.1
Turk, J.2
Hagerman, R.3
-
12
-
-
44249106115
-
Age-dependent cognitive changes in carriers of the fragile X syndrome
-
doi:10.1016/ j.cortex.2006.11.002
-
Cornish, K. M., Li, L., Kogan, C. S., Jacquemont, S., Turk, J., Dalton, A., . . . Hagerman, P. J. (2008b). Age-dependent cognitive changes in carriers of the fragile X syndrome. Cortex, 44, 628-636. doi:10.1016/ j.cortex.2006.11.002
-
(2008)
Cortex
, vol.44
, pp. 628-636
-
-
Cornish, K.M.1
Li, L.2
Kogan, C.S.3
Jacquemont, S.4
Turk, J.5
Dalton, A.6
Hagerman, P.J.7
-
13
-
-
42449118477
-
Prevalence and instability of fragile X alleles: Implications for offering fragile X prenatal diagnosis
-
doi:10.1097/AOG.0b013e318163be0b
-
Cronister, A., Teicher, J., Rohlfs, E. M., Donnenfeld, A., & Hallam, S. (2008). Prevalence and instability of fragile X alleles: Implications for offering fragile X prenatal diagnosis. Obstetrics and Gynecology, 111, 596-601. doi:10.1097/AOG.0b013e318163be0b
-
(2008)
Obstetrics and Gynecology
, vol.111
, pp. 596-601
-
-
Cronister, A.1
Teicher, J.2
Rohlfs, E.M.3
Donnenfeld, A.4
Hallam, S.5
-
14
-
-
0037084852
-
Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: Loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles
-
doi:10.1093/hmg/11.4.371
-
Dombrowski, C., Levesque, S., Morel, M. L., Rouillard, P., Morgan, K., & Rousseau, F. (2002). Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: Loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles. Human Molecular Genetics, 11, 371-378. doi:10.1093/hmg/11.4.371
-
(2002)
Human Molecular Genetics
, vol.11
, pp. 371-378
-
-
Dombrowski, C.1
Levesque, S.2
Morel, M.L.3
Rouillard, P.4
Morgan, K.5
Rousseau, F.6
-
15
-
-
0028989063
-
Translational suppression by trinucleotide repeat expansion at FMR1
-
(May 5), doi:10.1126/science.7732383
-
Feng, Y., Zhang, F., Lokey, L. K., Chastain, J. L., Lakkis, L., Eberhart, D., & Warren, S. T. (1995, May 5). Translational suppression by trinucleotide repeat expansion at FMR1. Science, 268, 731-734. doi:10.1126/science.7732383
-
(1995)
Science
, vol.268
, pp. 731-734
-
-
Feng, Y.1
Zhang, F.2
Lokey, L.K.3
Chastain, J.L.4
Lakkis, L.5
Eberhart D.Warren, S.T.6
-
16
-
-
69249118680
-
Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in a Spanish population
-
doi:10.2353/ jmoldx.2009.080173
-
Fernandez-Carvajal, I., Walichiewicz, P., Xiaosen, X., Pan, R., Hagerman, P. J., & Tassone, F. (2009). Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in a Spanish population. Journal of Molecular Diagnostics, 11, 324-329. doi:10.2353/ jmoldx.2009.080173
-
(2009)
Journal of Molecular Diagnostics
, vol.11
, pp. 324-329
-
-
Fernandez-Carvajal, I.1
Walichiewicz, P.2
Xiaosen, X.3
Pan, R.4
Hagerman, P.J.5
Tassone, F.6
-
17
-
-
0032696337
-
Neuropsychological profiles of FMR-1premutation and full-mutation carrier females
-
doi:10.1016/S0165-1781(99)00067-0
-
Franke, P., Leboyer, M., Hardt, J., Sohne, E., Weiffenbach, O., Biancalana, V. V., . . . Maier, W. (1999). Neuropsychological profiles of FMR-1premutation and full-mutation carrier females. Psychiatry Research, 87, 223-231. doi:10.1016/S0165-1781(99)00067-0
-
(1999)
Psychiatry Research
, vol.87
, pp. 223-231
-
-
Franke, P.1
Leboyer, M.2
Hardt, J.3
Sohne, E.4
Weiffenbach, O.5
Biancalana, V.V.6
Maier, W.7
-
18
-
-
0028526132
-
Unstable DNAsequence and methylation in fragile X syndrome
-
646-617
-
Fu, S. D., Shen, Y., & Fan, Y. (1994). [Unstable DNAsequence and methylation in fragile X syndrome]. Zhonghua Yi Xue Za Zhi, 74, 611-614, 646-617.
-
(1994)
Zhonghua Yi Xue Za Zhi
, vol.74
, pp. 611-614
-
-
Fu, S.D.1
Shen, Y.2
Fan, Y.3
-
19
-
-
0026345716
-
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
-
doi:10.1016/0092-8674(91)90283-5
-
Fu, Y. H., Kuhl, D. P., Pizzuti, A., Pieretti, M., Sutcliffe, J. S., Richards, S., . . . Caskey, C. T. (1991). Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox. Cell, 67, 1047-1058. doi:10.1016/0092-8674(91)90283-5
-
(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
Caskey, C.T.7
-
21
-
-
0036345801
-
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers
-
Greco, C. M., Hagerman, R. J., Tassone, F., Chudley, A. E., Del Bigio, M. R., Jacquemont, S., . . . Hagerman, P. J. (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
Chudley, A.E.4
Del Bigio, M.R.5
Jacquemont, S.6
Hagerman, P.J.7
-
22
-
-
39049106972
-
Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome
-
doi:10.1037/0894-4105.22.1.48
-
Grigsby, J., Brega, A. G., Engle, K., Leehey, M. A., Hagerman, R. J., Tassone, F., . . . Reynolds, A. (2008). Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome. Neuropsychology, 22, 48-60. doi:10.1037/0894-4105.22.1.48
-
(2008)
Neuropsychology
, vol.22
, pp. 48-60
-
-
Grigsby, J.1
Brega, A.G.2
Engle, K.3
Leehey, M.A.4
Hagerman, R.J.5
Tassone, F.6
Reynolds, A.7
-
23
-
-
34249088586
-
Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome
-
doi:10.1002/mds.21359
-
Grigsby, J., Brega, A. G., Leehey, M. A., Goodrich, G. K., Jacquemont, S., Loesch, D. Z., . . . Hagerman, R. J. (2007). Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome. Movement Disorders, 22, 645-650. doi:10.1002/mds.21359
-
(2007)
Movement Disorders
, vol.22
, pp. 645-650
-
-
Grigsby, J.1
Brega, A.G.2
Leehey, M.A.3
Goodrich, G.K.4
Jacquemont, S.5
Loesch, D.Z.6
Hagerman, R.J.7
-
24
-
-
0026874607
-
Reliabilities, norms and factor structure of the Behavioral Dyscontrol Scale
-
Grigsby, J., Kaye, K., & Robbins, L. J. (1992). Reliabilities, norms and factor structure of the Behavioral Dyscontrol Scale. Perceptual and Motor Skills, 74(3, Pt. 1), 883-892.
-
(1992)
Perceptual and Motor Skills
, vol.74
, Issue.3 PART 1
, pp. 883-892
-
-
Grigsby, J.1
Kaye, K.2
Robbins, L.J.3
-
25
-
-
0035838379
-
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
-
Hagerman, R. J., Leehey, M., Heinrichs, W., Tassone, F., Wilson, R., Hills, J., . . . Hagerman, P. J. (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
Hagerman, P.J.7
-
26
-
-
78650957433
-
An fMRI study of the prefrontal activity during the performance of a working memory task in premutation carriers of the fragile X mental retardation 1 gene with and without fragile X-associated tremor/ataxia syndrome (FXTAS)
-
Hashimoto, R. I., Backer, K. C., Tassone, F., Hagerman, R. J., & Rivera, S. M. (2011). An fMRI study of the prefrontal activity during the performance of a working memory task in premutation carriers of the fragile X mental retardation 1 gene with and without fragile X-associated tremor/ataxia syndrome (FXTAS). Journal of Psychiatric Research, 45, 36-43.
-
(2011)
Journal of Psychiatric Research
, vol.45
, pp. 36-43
-
-
Hashimoto, R.I.1
Backer, K.C.2
Tassone, F.3
Hagerman, R.J.4
Rivera, S.M.5
-
27
-
-
33748295575
-
Autistic behavior in children with fragile X syndrome: Prevalence, stability, and the impact of FMRP
-
Hatton, D. D., Sideris, J., Skinner, M., Mankowski, J., Bailey, D. B., Jr., Roberts, J., & Mirrett, P. (2006). Autistic behavior in children with fragile X syndrome: Prevalence, stability, and the impact of FMRP. American Journal of Medicine Genetics, Part A, 140A, 1804-1813.
-
(2006)
American Journal of Medicine Genetics, Part A
, vol.140 A
, pp. 1804-1813
-
-
Hatton, D.D.1
Sideris, J.2
Skinner, M.3
Mankowski, J.4
Bailey Jr., D.B.5
Roberts, J.6
Mirrett, P.7
-
28
-
-
0003968285
-
Wisconsin Card Sorting Test Manual: Revised and expanded
-
Odessa, FL: Psychological Assessment Resources
-
Heaton, R., Cheline, G., Talley, J., Kay, G., & Curtiss, G. (1993). Wisconsin Card Sorting Test Manual: Revised and expanded. Odessa, FL: Psychological Assessment Resources.
-
(1993)
-
-
Heaton, R.1
Cheline, G.2
Talley, J.3
Kay, G.4
Curtiss, G.5
-
29
-
-
62149102600
-
Is there evidence for neuropsychological and neurobehavioral phenotypes among adults without FXTAS who carry the FMR1 premutation? A review of current literature
-
doi: 10.1097/GIM.0b013e31818de6ee
-
Hunter, J. E., Abramowitz, A., Rusin, M., & Sherman, S. L. (2009). Is there evidence for neuropsychological and neurobehavioral phenotypes among adults without FXTAS who carry the FMR1 premutation? A review of current literature. Genetics in Medicine, 11, 79-89. doi: 10.1097/GIM.0b013e31818de6ee
-
(2009)
Genetics in Medicine
, vol.11
, pp. 79-89
-
-
Hunter, J.E.1
Abramowitz, A.2
Rusin, M.3
Sherman, S.L.4
-
30
-
-
57149143313
-
No evidence for a difference in neuropsychological profile among carriers and noncarriers of the FMR1 premutation in adults under the age of 50
-
doi:10.1016/j.ajhg.2008.10.021
-
Hunter, J. E., Allen, E. G., Abramowitz, A., Rusin, M., Leslie, M., Novak, G., . . . Sherman, S. L. (2008). No evidence for a difference in neuropsychological profile among carriers and noncarriers of the FMR1 premutation in adults under the age of 50. American Journal of Human Genetics, 83, 692-702. doi:10.1016/j.ajhg.2008.10.021
-
(2008)
American Journal of Human Genetics
, vol.83
, pp. 692-702
-
-
Hunter, J.E.1
Allen, E.G.2
Abramowitz, A.3
Rusin, M.4
Leslie, M.5
Novak, G.6
Sherman, S.L.7
-
31
-
-
0037384643
-
Fragile X premutation tremor/ataxia syndrome: Molecular, clinical, and neuroimaging correlates
-
doi:10.1086/374321
-
Jacquemont, S., Hagerman, R. J., Leehey, M., Grigsby, J., Zhang, L., Brunberg, J. A., . . . Hagerman, P. J. (2003). Fragile X premutation tremor/ataxia syndrome: Molecular, clinical, and neuroimaging correlates. American Journal of Human Genetics, 72, 869-878. doi:10.1086/ 374321
-
(2003)
American Journal of Human Genetics
, vol.72
, pp. 869-878
-
-
Jacquemont, S.1
Hagerman, R.J.2
Leehey, M.3
Grigsby, J.4
Zhang, L.5
Brunberg, J.A.6
Hagerman, P.J.7
-
32
-
-
9144252520
-
Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population
-
doi:10.1001/jama.291.4.460
-
Jacquemont, S., Hagerman, R. J., Leehey, M. A., Hall, D. A., Levine, R. A., Brunberg, J. A., . . . Hagerman, P. J. (2004). Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. Journal of the American Medical Association, 291, 460- 469. doi:10.1001/jama.291.4.460
-
(2004)
Journal of the American Medical Association
, vol.291
-
-
Jacquemont, S.1
Hagerman, R.J.2
Leehey, M.A.3
Hall, D.A.4
Levine, R.A.5
Brunberg, J.A.6
Hagerman, P.J.7
-
33
-
-
33749010659
-
Size bias of fragile X premutation alleles in late-onset movement disorders
-
Jacquemont, S., Leehey, M. A., Hagerman, R. J., Beckett, L. A., & Hagerman, P. J. (2006). Size bias of fragile X premutation alleles in late-onset movement disorders. Journal of Medical Genetics, 43, 804- 809.
-
(2006)
Journal of Medical Genetics
, vol.43
, pp. 804-809
-
-
Jacquemont, S.1
Leehey, M.A.2
Hagerman, R.J.3
Beckett, L.A.4
Hagerman, P.J.5
-
34
-
-
0035394437
-
Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers
-
doi: 10.1093/hmg/10.14.1449
-
Kenneson, A., Zhang, F., Hagedorn, C. H., & Warren, S. T. (2001). Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. Human Molecular Genetics, 10, 1449-1454. doi: 10.1093/hmg/10.14.1449
-
(2001)
Human Molecular Genetics
, vol.10
, pp. 1449-1454
-
-
Kenneson, A.1
Zhang, F.2
Hagedorn, C.H.3
Warren, S.T.4
-
35
-
-
0027203684
-
Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation
-
doi:10.1016/0092-8674(93)90300-F
-
Knight, S. J., Flannery, A. V., Hirst, M. C., Campbell, L., Christodoulou, Z., Phelps, S. R., . . . Davies, K. E. (1993). Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell, 74, 127-134. doi:10.1016/0092-8674(93)90300-F
-
(1993)
Cell
, vol.74
, pp. 127-134
-
-
Knight, S.J.1
Flannery, A.V.2
Hirst, M.C.3
Campbell, L.4
Christodoulou, Z.5
Phelps, S.R.6
Davies, K.E.7
-
36
-
-
42049113610
-
FMR1 CGG repeat length predicts motor dysfunction in premutation carriers
-
doi:10.1212/01.wnl.0000281692.98200.f5
-
Leehey, M. A., Berry-Kravis, E., Goetz, C. G., Zhang, L., Hall, D. A., Li, L., . . . Hagerman, P. J. (2008). FMR1 CGG repeat length predicts motor dysfunction in premutation carriers. Neurology, 70(16, Pt. 2), 1397- 1402. doi:10.1212/01.wnl.0000281692.98200.f5
-
(2008)
Neurology
, vol.70
, Issue.16 PART 2
, pp. 1397-1402
-
-
Leehey, M.A.1
Berry-Kravis, E.2
Goetz, C.G.3
Zhang, L.4
Hall, D.A.5
Li, L.6
Hagerman, P.J.7
-
37
-
-
0037229944
-
The fragile X premutation presenting as essential tremor
-
doi:10.1001/archneur.60.1.117
-
Leehey, M. A., Munhoz, R. P., Lang, A. E., Brunberg, J. A., Grigsby, J., Greco, C., . . . Hagerman, R. J. (2003). The fragile X premutation presenting as essential tremor. Archives of Neurology, 60, 117-121. doi:10.1001/archneur.60.1.117
-
(2003)
Archives of Neurology
, vol.60
, pp. 117-121
-
-
Leehey, M.A.1
Munhoz, R.P.2
Lang, A.E.3
Brunberg, J.A.4
Grigsby, J.5
Greco, C.6
Hagerman, R.J.7
-
38
-
-
0029955568
-
Survey of the fragile X syndrome and the fragile X E syndrome in a special education needs population
-
doi:10.1002/(SICI)1096-8628(19960809)64:2<428::AID-AJMG39>3.0.CO;2-F
-
Meadows, K. L., Pettay, D., Newman, J., Hersey, J., Ashley, A. E., & Sherman, S. L. (1996). Survey of the fragile X syndrome and the fragile X E syndrome in a special education needs population. American Journal of Medical Genetics, 64, 428-433. doi:10.1002/(SICI)1096-8628(19960809)64:2<428::AID-AJMG39>3.0.CO;2-F
-
(1996)
American Journal of Medical Genetics
, vol.64
, pp. 428-433
-
-
Meadows, K.L.1
Pettay, D.2
Newman, J.3
Hersey, J.4
Ashley, A.E.5
Sherman, S.L.6
-
39
-
-
4544387060
-
A neuropsychological investigation of male premutation carriers of fragile X syndrome
-
doi:10.1016/j.neuropsychologia.2004.05.002
-
Moore, C. J., Daly, E. M., Schmitz, N., Tassone, F., Tysoe, C., Hagerman, R. J., . . . Murphy, D. G. (2004). A neuropsychological investigation of male premutation carriers of fragile X syndrome. Neuropsychologia, 42, 1934-1947. doi:10.1016/j.neuropsychologia.2004.05.002
-
(2004)
Neuropsychologia
, vol.42
, pp. 1934-1947
-
-
Moore, C.J.1
Daly, E.M.2
Schmitz, N.3
Tassone, F.4
Tysoe, C.5
Hagerman, R.J.6
Murphy, D.G.7
-
40
-
-
0026339303
-
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
-
(May 24). doi:10.1126/science.252.5009.1097
-
Oberle, I., Rousseau, F., Heitz, D., Kretz, C., Devys, D., Hanauer, A., . . . Mandel, J. L. (1991, May 24). Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science, 252, 1097-1102. doi:10.1126/science.252.5009.1097
-
(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
Mandel, J.L.7
-
41
-
-
76149090495
-
Examination of FMR1 transcript and protein levels among 74 premutation carriers
-
doi: 10.1038/jhg.2009.121
-
Peprah, E., He, W., Allen, E., Oliver, T., Boyne, A., & Sherman, S. L. (2010). Examination of FMR1 transcript and protein levels among 74 premutation carriers. Journal of Human Genetics, 55, 66-68. doi: 10.1038/jhg.2009.121
-
(2010)
Journal of Human Genetics
, vol.55
, pp. 66-68
-
-
Peprah, E.1
He, W.2
Allen, E.3
Oliver, T.4
Boyne, A.5
Sherman, S.L.6
-
42
-
-
0025833298
-
Absence of expression of the FMR-1 gene in fragile X syndrome
-
doi:10.1016/0092-8674(91)90125-I
-
Pieretti, M., Zhang, F. P., Fu, Y. H., Warren, S. T., Oostra, B. A., Caskey, C. T., & Nelson, D. L. (1991). Absence of expression of the FMR-1 gene in fragile X syndrome. Cell, 66, 817- 822. doi:10.1016/0092-8674(91)90125-I
-
(1991)
Cell
, vol.66
, pp. 817-822
-
-
Pieretti, M.1
Zhang, F.P.2
Fu, Y.H.3
Warren, S.T.4
Oostra, B.A.5
Caskey, C.T.6
Nelson, D.L.7
-
43
-
-
0036918690
-
Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations
-
Primerano, B., Tassone, F., Hagerman, R. J., Hagerman, P., Amaldi, F., & Bagni, C. (2002). Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations. RNA, 8, 1482-1488.
-
(2002)
RNA
, vol.8
, pp. 1482-1488
-
-
Primerano, B.1
Tassone, F.2
Hagerman, R.J.3
Hagerman, P.4
Amaldi, F.5
Bagni, C.6
-
44
-
-
72749101714
-
Penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutation
-
doi:10.1136/jmg.2008.065953
-
Sevin, M., Kutalik, Z., Bergman, S., Vercelletto, M., Renou, P., Lamy, E., . . . Jacquemont, S. (2009). Penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutation. Journal of Medical Genetics, 46, 818-824. doi:10.1136/jmg.2008.065953
-
(2009)
Journal of Medical Genetics
, vol.46
, pp. 818-824
-
-
Sevin, M.1
Kutalik, Z.2
Bergman, S.3
Vercelletto, M.4
Renou, P.5
Lamy, E.6
Jacquemont, S.7
-
45
-
-
0034522229
-
Premature ovarian failure in the fragile X syndrome
-
doi: 10.1002/1096-8628(200023)97:3<189::AID-AJMG1036>3.0.CO;2-J
-
Sherman, S. L. (2000). Premature ovarian failure in the fragile X syndrome. American Journal of Medical Genetics, 97, 189-194. doi: 10.1002/1096-8628(200023)97:3<189::AID-AJMG1036>3.0.CO;2-J
-
(2000)
American Journal of Medical Genetics
, vol.97
, pp. 189-194
-
-
Sherman, S.L.1
-
46
-
-
0026922707
-
DNA methylation represses FMR-1 transcription in fragile X syndrome
-
doi:10.1093/hmg/1.6.397
-
Sutcliffe, J. S., Nelson, D. L., Zhang, F., Pieretti, M., Caskey, C. T., Saxe, D., & Warren, S. T. (1992). DNA methylation represses FMR-1 transcription in fragile X syndrome. Human Molecular Genetics, 1, 397- 400. doi:10.1093/hmg/1.6.397
-
(1992)
Human Molecular Genetics
, vol.1
, pp. 397-400
-
-
Sutcliffe, J.S.1
Nelson, D.L.2
Zhang, F.3
Pieretti, M.4
Caskey, C.T.5
Saxe, D.6
Warren, S.T.7
-
47
-
-
0033940157
-
Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in the fragile-X syndrome
-
doi:10.1086/302720
-
Tassone, F., Hagerman, R. J., Taylor, A. K., Gane, L. W., Godfrey, T. E., & Hagerman, P. J. (2000a). Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in the fragile-X syndrome. American Journal of Human Genetics, 66, 6-15. doi:10.1086/302720
-
(2000)
American Journal of Human Genetics
, 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, P.J.6
-
48
-
-
0034016083
-
Clinical involvement and protein expression in individuals with the FMR1 premutation
-
doi:10.1002/(SICI)1096-8628(20000313)91:2<144::AID-AJMG14>3.0.CO;2-V
-
Tassone, F., Hagerman, R. J., Taylor, A. K., Mills, J. B., Harris, S. W., Gane, L. W., & Hagerman, P. J. (2000b). Clinical involvement and protein expression in individuals with the FMR1 premutation. AmericanJournal of Medical Genetics, 91, 144-152. doi:10.1002/(SICI)1096-8628(20000313)91:2<144::AID-AJMG14>3.0.CO;2-V
-
(2000)
American Journal of Medical Genetics
, vol.91
, pp. 144-152
-
-
Tassone, F.1
Hagerman, R.J.2
Taylor, A.K.3
Mills, J.B.4
Harris, S.W.5
Gane, L.W.6
Hagerman, P.J.7
-
49
-
-
77953267727
-
The developmental roles of FMRP
-
doi:10.1042/BST0380507
-
Till, S. M. (2010). The developmental roles of FMRP. Biochemical Society Transactions, 38, 507-510. doi:10.1042/BST0380507
-
(2010)
Biochemical Society Transactions
, vol.38
, pp. 507-510
-
-
Till, S.M.1
-
50
-
-
0034917943
-
Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel
-
doi:10.1086/321974
-
Toledano-Alhadef, H., Basel-Vanagaite, L., Magal, N., Davidov, B., Ehrlich, S., Drasinover, V., . . . Shohat, M. (2001). Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel. American Journal of Human Genetics, 69, 351-360. doi:10.1086/321974
-
(2001)
American Journal of Human Genetics
, vol.69
, pp. 351-360
-
-
Toledano-Alhadef, H.1
Basel-Vanagaite, L.2
Magal, N.3
Davidov, B.4
Ehrlich, S.5
Drasinover, V.6
Shohat, M.7
-
51
-
-
0003538936
-
-
Odessa, FL: Psychological Assessment Resources
-
Trenerry, M., Crosson, B., Deboe, J., & Leber, W. (1989). Stroop Neuropsychological Screening Test. Odessa, FL: Psychological Assessment Resources.
-
(1989)
Stroop Neuropsychological Screening Test
-
-
Trenerry, M.1
Crosson, B.2
Deboe, J.3
Leber, W.4
-
52
-
-
0025905795
-
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
-
doi:10.1016/0092-8674(91)90397-H
-
Verkerk, A. J., Pieretti, M., Sutcliffe, J. S., Fu, Y. H., Kuhl, D. P., Pizzuti, A., . . . Warren, S. T. (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. doi:10.1016/ 0092-8674(91)90397-H
-
(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
Warren, S.T.7
-
53
-
-
0028932577
-
A rapid, non-radioactive screening test for fragile X mutations at the FRAXA and FRAXE loci
-
doi:10.1136/jmg.32.3.170
-
Wang, Q., Green, E., Bobrow, M., & Mathew, C. G. (1995). A rapid, non-radioactive screening test for fragile X mutations at the FRAXA and FRAXE loci. Journal of Medicine Genet, 32, 170-173. doi:10.1136/ jmg.32.3.170
-
(1995)
Journal of Medicine Genet
, vol.32
, pp. 170-173
-
-
Wang, Q.1
Green, E.2
Bobrow, M.3
Mathew, C.G.4
|