-
1
-
-
0037384643
-
Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates
-
Jacquemont S, Hagerman RJ, Leehey MA, et al. Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet 2003; 72: 869-878.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 869-878
-
-
Jacquemont, S.1
Hagerman, R.J.2
Leehey, M.A.3
-
2
-
-
0033515496
-
Fragile X premutation is a significant risk factor for premature ovarian failure: the international collaborative POF in fragile X study-preliminary data
-
Allingham-Hawkins DJ, Babul-Hiriji R, Chitayat D, et al. Fragile X premutation is a significant risk factor for premature ovarian failure: the international collaborative POF in fragile X study-preliminary data. Am J Med Genet 1999; 83: 322-325.
-
(1999)
Am J Med Genet
, vol.83
, pp. 322-325
-
-
Allingham-Hawkins, D.J.1
Babul-Hiriji, R.2
Chitayat, D.3
-
3
-
-
0037084852
-
Premutation and intermediate-size FMR1 alleles in 10,572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles
-
Dombrowski C, Lévesque S, Morel ML, Rouillard P, Morgan K, Rousseau F. Premutation and intermediate-size FMR1 alleles in 10, 572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles. Hum Mol Genet 2002; 11: 371-378.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 371-378
-
-
Dombrowski, C.1
Lévesque, S.2
Morel, M.L.3
Rouillard, P.4
Morgan, K.5
Rousseau, F.6
-
4
-
-
0028799833
-
Prevalence of carriers of premutation-size alleles of the FMRI gene-and implications for the population genetics of the fragile X syndrome
-
Rousseau F, Rouillard P, Morel ML, Khandjian EW, Morgan K. Prevalence of carriers of premutation-size alleles of the FMRI gene-and implications for the population genetics of the fragile X syndrome. Am J Hum Genet 1995; 57: 1006-1018.
-
(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
-
5
-
-
0028858268
-
Frequency of FMR1 premutations in a consecutive newborn population by PCR screening of Guthrie blood spots
-
Dawson AJ, Chodirker BN, Chudley AE. Frequency of FMR1 premutations in a consecutive newborn population by PCR screening of Guthrie blood spots. Biochem Mol Med 1995; 56: 63-69.
-
(1995)
Biochem Mol Med
, vol.56
, pp. 63-69
-
-
Dawson, A.J.1
Chodirker, B.N.2
Chudley, A.E.3
-
6
-
-
33645314905
-
Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation
-
Bodega B, Bione S, Dalpra L, et al. Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation. Hum Reprod 2006; 21: 952-957.
-
(2006)
Hum Reprod
, vol.21
, pp. 952-957
-
-
Bodega, B.1
Bione, S.2
Dalpra, L.3
-
7
-
-
0029977269
-
Population screening at the FRAXA and FRAXE loci: molecular analyses of boys with learning difficulties and their mothers
-
Murray A, Youings SA, Dennis N, et al. Population screening at the FRAXA and FRAXE loci: molecular analyses of boys with learning difficulties and their mothers. Hum Mol Genet 1996; 5: 727-735.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 727-735
-
-
Murray, A.1
Youings, S.A.2
Dennis, N.3
-
8
-
-
0016823810
-
"Mini-mental state". A practical method for grading the cognitive state of patients for the clinician
-
Folstein MF, Folstein SE, McHugh PR. "Mini-mental state". A practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res 1975; 12: 189-198.
-
(1975)
J Psychiatr Res
, vol.12
, pp. 189-198
-
-
Folstein, M.F.1
Folstein, S.E.2
McHugh, P.R.3
-
9
-
-
33645863149
-
An investigation of FRAXA intermediate allele phenotype in a longitudinal sample
-
Ennis S, Murray A, Youings S, et al. An investigation of FRAXA intermediate allele phenotype in a longitudinal sample. Ann Hum Genet 2006; 70( Pt 2): 170-180.
-
(2006)
Ann Hum Genet
, vol.70
, Issue.PART 2
, pp. 170-180
-
-
Ennis, S.1
Murray, A.2
Youings, S.3
-
10
-
-
23944493381
-
FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure
-
Bretherick KL, Fluker MR, Robinson WP. FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure. Hum Genet 2005; 117: 376-382.
-
(2005)
Hum Genet
, vol.117
, pp. 376-382
-
-
Bretherick, K.L.1
Fluker, M.R.2
Robinson, W.P.3
-
11
-
-
70449421459
-
Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism
-
Loesch DZ, Khaniani MS, Slater HR, et al. Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism. Clin Genet 2009; 76: 471-476.
-
(2009)
Clin Genet
, vol.76
, pp. 471-476
-
-
Loesch, D.Z.1
Khaniani, M.S.2
Slater, H.R.3
-
12
-
-
34147169493
-
Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised and correlate with the number of CGG repeats
-
Loesch DZ, Bui QM, Huggins RM, Mitchell RJ, Hagerman RJ, Tassone F. Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised and correlate with the number of CGG repeats. J Med Genet 2007; 44: 200-204.
-
(2007)
J Med Genet
, vol.44
, pp. 200-204
-
-
Loesch, D.Z.1
Bui, Q.M.2
Huggins, R.M.3
Mitchell, R.J.4
Hagerman, R.J.5
Tassone, F.6
-
13
-
-
0033940157
-
Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile X syndrome
-
Tassone F, Hagerman RJ, Taylor AK, Gane L, Godfrey TE, Hagerman PJ. Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile X syndrome. Am J Hum Genet 2000; 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.4
Godfrey, T.E.5
Hagerman, P.J.6
-
14
-
-
0035394437
-
Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers
-
Kenneson A, Zhang F, Hagedorn CH, Warren ST. Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. Hum Mol Genet 2001; 10: 1449-1454
-
(2001)
Hum Mol Genet
, vol.10
, pp. 1449-1454
-
-
Kenneson, A.1
Zhang, F.2
Hagedorn, C.H.3
Warren, S.T.4
-
15
-
-
0030760613
-
The fragile X mental retardation protein is associated with poly(A) + mRNA in actively translating polyribosomes
-
Corbin F, Bouillon M, Fortin A, Morin S, Rousseau F, Khandijian EW. The fragile X mental retardation protein is associated with poly(A) + mRNA in actively translating polyribosomes. Hum Mol Genet 1997; 6: 1465-1472.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1465-1472
-
-
Corbin, F.1
Bouillon, M.2
Fortin, A.3
Morin, S.4
Rousseau, F.5
Khandijian, E.W.6
-
16
-
-
40949090052
-
Role for metabotropic glutamate receptor 5 (mGluR5) in the pathogenesis of fragile X syndrome
-
Dolen G, Bear MF. Role for metabotropic glutamate receptor 5 (mGluR5) in the pathogenesis of fragile X syndrome. J Physiol 2008: 1503-1508.
-
(2008)
J Physiol
, pp. 1503-1508
-
-
Dolen, G.1
Bear, M.F.2
-
17
-
-
0033797832
-
Dendritic spine structural anomalies in fragile-X mental retardation syndrome
-
Irwin SA, Galves R, Greenough WT. Dendritic spine structural anomalies in fragile-X mental retardation syndrome. Cereb Cortex 2000; 10: 1038-1044.
-
(2000)
Cereb Cortex
, vol.10
, pp. 1038-1044
-
-
Irwin, S.A.1
Galves, R.2
Greenough, W.T.3
-
18
-
-
27544439901
-
Expansion of an intermediate allele of the FMR1 gene in only two generations
-
Zuniga A, Juan J, Mila M, Guerrero A. Expansion of an intermediate allele of the FMR1 gene in only two generations. Clin Genet 2005; 68: 471-473.
-
(2005)
Clin Genet
, vol.68
, pp. 471-473
-
-
Zuniga, A.1
Juan, J.2
Mila, M.3
Guerrero, A.4
-
19
-
-
1942440845
-
Expansion to full mutation of a FMR1 intermediate allele over two generations
-
Terracciano A, Pomponi MG, Marino GM, et al. Expansion to full mutation of a FMR1 intermediate allele over two generations. Eur J Hum Genet 2004; 12: 333-336.
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 333-336
-
-
Terracciano, A.1
Pomponi, M.G.2
Marino, G.M.3
-
20
-
-
69249093477
-
Expansion of an FMR1 grey-zone allele to a full mutation in two generations
-
Fernandez-Carvajal I, Lopez Posadas B, Pan R, Raske C, Hagerman PJ, Tassone F. Expansion of an FMR1 grey-zone allele to a full mutation in two generations. J Mol Diagn 2009; 11: 306-310.
-
(2009)
J Mol Diagn
, vol.11
, pp. 306-310
-
-
Fernandez-Carvajal, I.1
Lopez Posadas, B.2
Pan, R.3
Raske, C.4
Hagerman, P.J.5
Tassone, F.6
-
21
-
-
27644507366
-
Fragile X syndrome: diagnostic and carrier testing
-
Sherman S, Pletcher MA, Driscoll DA. Fragile X syndrome: diagnostic and carrier testing. Genet Med 2005; 7: 548-587.
-
(2005)
Genet Med
, vol.7
, pp. 548-587
-
-
Sherman, S.1
Pletcher, M.A.2
Driscoll, D.A.3
-
22
-
-
18544371505
-
Technical standards and guidelines for fragile X: the first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of the Laboratory Practice Committee
-
Maddalena A, Richards CS, McGinniss MJ, et al. Technical standards and guidelines for fragile X: the first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of the Laboratory Practice Committee. Genet Med 2001; 3: 200-205.
-
(2001)
Genet Med
, vol.3
, pp. 200-205
-
-
Maddalena, A.1
Richards, C.S.2
McGinniss, M.J.3
-
23
-
-
57449090215
-
Clinical significance of tri-nucleotide repeats in Fragile X testing: a clarification of American College of Medical Genetics guidelines
-
Kronquist KE, Sherman SL, Spector EB. Clinical significance of tri-nucleotide repeats in Fragile X testing: a clarification of American College of Medical Genetics guidelines. Genet Med 2008; 10: 845-847.
-
(2008)
Genet Med
, vol.10
, pp. 845-847
-
-
Kronquist, K.E.1
Sherman, S.L.2
Spector, E.B.3
-
24
-
-
84862241820
-
Fragile X-associated tremor/ataxia phenotype in a male carriers of unmethylated full mutation in the FMR1 gene
-
in press). DOI: 10.1111/j.1399-0004.2011.01675.x
-
Loesch DZ, Sherwell S, Kinella G, et al. Fragile X-associated tremor/ataxia phenotype in a male carriers of unmethylated full mutation in the FMR1 gene. Clin Genet (in press). DOI: 10.1111/j.1399-0004.2011.01675.x
-
Clin Genet
-
-
Loesch, D.Z.1
Sherwell, S.2
Kinella, G.3
-
25
-
-
79957468734
-
Rare intranuclear inclusions in the brains of 3 older adult males with fragile X syndrome: implications for the spectrum of fragile X-associated disorders
-
Hunsaker MR, Greco CM, Tassone F, et al. Rare intranuclear inclusions in the brains of 3 older adult males with fragile X syndrome: implications for the spectrum of fragile X-associated disorders. J Neuropathol Exp Neurol 2011; 70: 462-469.
-
(2011)
J Neuropathol Exp Neurol
, vol.70
, pp. 462-469
-
-
Hunsaker, M.R.1
Greco, C.M.2
Tassone, F.3
|