-
1
-
-
0032231936
-
Examination of factors associated with instability of the FMR1 CGG repeat
-
Ashley-Koch AE, Robinson H, Glicksman AE, Nolin SL, Schwartz CE, Brown WT, Turner G, Sherman SL. 1998. Examination of factors associated with instability of the FMR1 CGG repeat. Am J Hum Genet 63:776-785.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 776-785
-
-
Ashley-Koch, A.E.1
Robinson, H.2
Glicksman, A.E.3
Nolin, S.L.4
Schwartz, C.E.5
Brown, W.T.6
Turner, G.7
Sherman, S.L.8
-
2
-
-
49449089705
-
Co-occurring conditions associated with FMR1 gene variations: Findings from a National Parent Survey
-
Bailey DB, Raspa M, Olmsted M, Holiday DB. 2008. Co-occurring conditions associated with FMR1 gene variations: Findings from a National Parent Survey. Am J Med Genet Part A 146A(16):2060-2069.
-
(2008)
Am J Med Genet Part A
, vol.146 A
, Issue.16
, pp. 2060-2069
-
-
Bailey, D.B.1
Raspa, M.2
Olmsted, M.3
Holiday, D.B.4
-
4
-
-
33846000314
-
Neuropathic features in fragile X premutation carriers
-
Berry-Kravis E, Goetz CG, Leehey MA, Hagerman RJ, Zhang L, Li L, Nguyen D, Hall DA, Tartaglia N, Cogswell J, Tassone F, Hagerman PJ. 2007. Neuropathic features in fragile X premutation carriers. Am J Med Genet Part A 143A:19-26.
-
(2007)
Am J Med Genet Part A
, vol.143 A
, pp. 19-26
-
-
Berry-Kravis, E.1
Goetz, C.G.2
Leehey, M.A.3
Hagerman, R.J.4
Zhang, L.5
Li, L.6
Nguyen, D.7
Hall, D.A.8
Tartaglia, N.9
Cogswell, J.10
Tassone, F.11
Hagerman, P.J.12
-
5
-
-
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. 2005. FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure. Hum Genet 117(4):376-382.
-
(2005)
Hum Genet
, vol.117
, Issue.4
, pp. 376-382
-
-
Bretherick, K.L.1
Fluker, M.R.2
Robinson, W.P.3
-
6
-
-
69049107540
-
The FMR1 gene and fragile X-associated tremor/ataxia syndrome
-
Brouwer JR, Willemsen R, Oostra BA. 2009. The FMR1 gene and fragile X-associated tremor/ataxia syndrome. Am J Med Genet Part B 150B:782-798.
-
(2009)
Am J Med Genet Part B
, vol.150 B
, pp. 782-798
-
-
Brouwer, J.R.1
Willemsen, R.2
Oostra, B.A.3
-
7
-
-
0033069502
-
Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population
-
Crawford DC, Meadows KL, Newman JL, Taft LF, Pettay DL, Gold LB, Hersey SJ, Hinkle EF, Stanfield ML, Holmgreen P. 1999. Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population. Am J Hum Genet 64:495-507.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 495-507
-
-
Crawford, D.C.1
Meadows, K.L.2
Newman, J.L.3
Taft, L.F.4
Pettay, D.L.5
Gold, L.B.6
Hersey, S.J.7
Hinkle, E.F.8
Stanfield, M.L.9
Holmgreen, P.10
-
8
-
-
80055074162
-
Selective executive markers of at-risk profiles associated with the fragile X premutation
-
Cornish KM, Hocking DR, Moss SA, Kogan CS. 2011. Selective executive markers of at-risk profiles associated with the fragile X premutation. Neurology 77(7):618-622.
-
(2011)
Neurology
, vol.77
, Issue.7
, pp. 618-622
-
-
Cornish, K.M.1
Hocking, D.R.2
Moss, S.A.3
Kogan, C.S.4
-
9
-
-
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, Levesque S, Morel M, Rouillard P, Morgan K, Rousseau F. 2002. 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 11:371.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 371
-
-
Dombrowski, C.1
Levesque, S.2
Morel, M.3
Rouillard, P.4
Morgan, K.5
Rousseau, F.6
-
11
-
-
84879370305
-
-
Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, DHHS., Washington, DC: U.S. Government Printing Office
-
Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, DHHS. 2009. NIH research plan on fragile X syndrome and associated disorders (NA). Washington, DC: U.S. Government Printing Office.
-
(2009)
NIH research plan on fragile X syndrome and associated disorders (NA)
-
-
-
12
-
-
0027754610
-
The statistical basis of meta-analysis
-
Fleiss JL. 1993. The statistical basis of meta-analysis. Stat Methods Med Res 2:121-145.
-
(1993)
Stat Methods Med Res
, vol.2
, pp. 121-145
-
-
Fleiss, J.L.1
-
13
-
-
50049086691
-
The fragile X prevalence paradox
-
Hagerman PJ. 2008. The fragile X prevalence paradox. J Med Genet 45:498.
-
(2008)
J Med Genet
, vol.45
, pp. 498
-
-
Hagerman, P.J.1
-
14
-
-
2342635196
-
The fragile-X premutation: A maturing perspective
-
Hagerman PJ, Hagerman RJ. 2004. The fragile-X premutation: A maturing perspective. Am J Hum Genet 74:805-816.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 805-816
-
-
Hagerman, P.J.1
Hagerman, R.J.2
-
15
-
-
79959990892
-
The epidemiology of FXTAS
-
In: Tassone F, Berry-Kravis EM, editors. New York, NY: Springer New York
-
Hall DA, Jacquemont S. 2010. The epidemiology of FXTAS. In: Tassone F, Berry-Kravis EM, editors. The fragile X-associated tremor ataxia syndrome (FXTAS). New York, NY: Springer New York. pp 17-30.
-
(2010)
The fragile X-associated tremor ataxia syndrome (FXTAS)
, pp. 17-30
-
-
Hall, D.A.1
Jacquemont, S.2
-
16
-
-
80052264026
-
FMR1 gray-zone alleles: Association with Parkinson's disease in women
-
Hall DA, Berry-Kravis E, Zhang W, Tassone F, Spector E, Zerbe G, Hagerman PJ, Ouyang B, Leehey MA. 2011. FMR1 gray-zone alleles: Association with Parkinson's disease in women? Mov Disord 26(10):1900-1906.
-
(2011)
Mov Disord
, vol.26
, Issue.10
, pp. 1900-1906
-
-
Hall, D.A.1
Berry-Kravis, E.2
Zhang, W.3
Tassone, F.4
Spector, E.5
Zerbe, G.6
Hagerman, P.J.7
Ouyang, B.8
Leehey, M.A.9
-
17
-
-
84856975461
-
Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers
-
Hall D, Tassone F, Klepitskaya O, Leehey M. 2012. Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers. Mov Disord 27:297-301.
-
(2012)
Mov Disord
, vol.27
, pp. 297-301
-
-
Hall, D.1
Tassone, F.2
Klepitskaya, O.3
Leehey, M.4
-
18
-
-
78751631879
-
FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: Insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States
-
Hantash FM, Goos DM, Crossley B, Anderson B, Zhang K, Sun W, Strom CM. 2010. FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: Insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States. Genet Med 13:39-45.
-
(2010)
Genet Med
, vol.13
, pp. 39-45
-
-
Hantash, F.M.1
Goos, D.M.2
Crossley, B.3
Anderson, B.4
Zhang, K.5
Sun, W.6
Strom, C.M.7
-
19
-
-
84864100092
-
Ovarian abnormalities in a mouse model of fragile X primary ovarian insufficiency
-
Hoffman GE, Le WW, Entezam A, Otsuka N, Tong Z-B, Nelson L, Flaws JA, McDonald JH, Jafar S, Usdin K. 2012. Ovarian abnormalities in a mouse model of fragile X primary ovarian insufficiency. J Histochem Cytochem 60:439-456.
-
(2012)
J Histochem Cytochem
, vol.60
, pp. 439-456
-
-
Hoffman, G.E.1
Le, W.W.2
Entezam, A.3
Otsuka, N.4
Tong, Z.-B.5
Nelson, L.6
Flaws, J.A.7
McDonald, J.H.8
Jafar, S.9
Usdin, K.10
-
20
-
-
0023351610
-
Spermatogenesis in two patients with the fragile X syndrome
-
Johannisson R, Rehder H, Wendt V, Schwinger E. 1987. Spermatogenesis in two patients with the fragile X syndrome. Hum Genet 76:141-147.
-
(1987)
Hum Genet
, vol.76
, pp. 141-147
-
-
Johannisson, R.1
Rehder, H.2
Wendt, V.3
Schwinger, E.4
-
21
-
-
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
-
22
-
-
0028802715
-
Expansion of the CGG repeat in fragile X in the FMR1 gene depends on the sex of the offspring
-
Loesch DZ, Huggins R, Petrovic V, Slater H. 1995. Expansion of the CGG repeat in fragile X in the FMR1 gene depends on the sex of the offspring. Am J Hum Genet 57:1408.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1408
-
-
Loesch, D.Z.1
Huggins, R.2
Petrovic, V.3
Slater, H.4
-
23
-
-
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, Hgerman RJ, Tassone F. 2007. 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 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
Hgerman, R.J.5
Tassone, F.6
-
24
-
-
84869025102
-
Fragile X premutation RNA is sufficient to cause primary ovarian insufficiency in mice
-
Lu C, Lin L, Tan H, Wu H, Sherman SL, Gao F, Jin P, Chen D. 2012. Fragile X premutation RNA is sufficient to cause primary ovarian insufficiency in mice. Hum Mol Genet 21:5039-5047.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 5039-5047
-
-
Lu, C.1
Lin, L.2
Tan, H.3
Wu, H.4
Sherman, S.L.5
Gao, F.6
Jin, P.7
Chen, D.8
-
25
-
-
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
-
Maddalena A, Richards CS, McGinniss MJ, Brothman A, Desnick RJ, Grier RE, Hirsch B, Jacky P, McDowell GA, Popovich B. 2001. 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. Genet Med 3:200-205.
-
(2001)
Genet Med
, vol.3
, pp. 200-205
-
-
Maddalena, A.1
Richards, C.S.2
McGinniss, M.J.3
Brothman, A.4
Desnick, R.J.5
Grier, R.E.6
Hirsch, B.7
Jacky, P.8
McDowell, G.A.9
Popovich, B.10
-
26
-
-
27644529477
-
Marshfield Clinic Personalized Medicine Research Project (PMRP): Design, methods and recruitment for a large population-based biobank
-
McCarty CA, Wilke RA, Giampietro PF, Wesbrook SD, Caldwell MD. 2005. Marshfield Clinic Personalized Medicine Research Project (PMRP): Design, methods and recruitment for a large population-based biobank. Personalized Med 2:49-79.
-
(2005)
Personalized Med
, vol.2
, pp. 49-79
-
-
McCarty, C.A.1
Wilke, R.A.2
Giampietro, P.F.3
Wesbrook, S.D.4
Caldwell, M.D.5
-
27
-
-
0037320928
-
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles
-
Nolin SL, Brown WT, Glicksman A, Houck GE Jr, Gargano AD, Sullivan A, Biancalana V, Bröndum-Nielsen K, Hjalgrim H, Holinski-Feder E. 2003. Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet 72:454-464.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 454-464
-
-
Nolin, S.L.1
Brown, W.T.2
Glicksman, A.3
Houck Jr., G.E.4
Gargano, A.D.5
Sullivan, A.6
Biancalana, V.7
Bröndum-Nielsen, K.8
Hjalgrim, H.9
Holinski-Feder, E.10
-
28
-
-
19244362362
-
Familial transmission of the FMR1 CGG repeat
-
Nolin SL, Lewis FA, Ye LL, Houck GE Jr, Glicksman AE, Limprasert P, Li SY, Zhong N, Ashley AE, Feingold E, Sherman SL, Brown WT. 1996. Familial transmission of the FMR1 CGG repeat. Am J Hum Genet 59:1252.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 1252
-
-
Nolin, S.L.1
Lewis, F.A.2
Ye, L.L.3
Houck Jr., G.E.4
Glicksman, A.E.5
Limprasert, P.6
Li, S.Y.7
Zhong, N.8
Ashley, A.E.9
Feingold, E.10
Sherman, S.L.11
Brown, W.T.12
-
29
-
-
84879383222
-
-
Episheet Online Tool. Available: [accessed 13 Dec 2012]
-
Rothman KJ. 2011. Episheet Online Tool. Available: http://krothman.hostbyet2.com/ [accessed 13 Dec 2012].
-
(2011)
-
-
Rothman, K.J.1
-
30
-
-
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. 1995. 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 57:1006.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1006
-
-
Rousseau, F.1
Rouillard, P.2
Morel, M.L.3
Khandjian, E.W.4
Morgan, K.5
-
31
-
-
82055196654
-
The fragile X mental retardation syndrome 20 years after the FMR1 gene discovery: An expanding universe of knowledge
-
Rousseau F, Labelle Y, Bussières J, Lindsay C. 2011. The fragile X mental retardation syndrome 20 years after the FMR1 gene discovery: An expanding universe of knowledge. Clin Biochem Rev 32:135.
-
(2011)
Clin Biochem Rev
, vol.32
, pp. 135
-
-
Rousseau, F.1
Labelle, Y.2
Bussières, J.3
Lindsay, C.4
-
32
-
-
84861950670
-
Prevalence of CGG expansions of the FMR1 gene in a US population-based sample
-
Seltzer MM, Baker MW, Hong J, Maenner M, Greenberg J, Mandel D. 2012. Prevalence of CGG expansions of the FMR1 gene in a US population-based sample. Am J Med Genet Part B 159B:589-597.
-
(2012)
Am J Med Genet Part B
, vol.159 B
, pp. 589-597
-
-
Seltzer, M.M.1
Baker, M.W.2
Hong, J.3
Maenner, M.4
Greenberg, J.5
Mandel, D.6
-
33
-
-
85044702643
-
Screening for fragile X syndrome: A literature review and modelling study
-
Song FJ, Barton P, Sleightholme V, Yao GL, Fry-Smith A. 2003. Screening for fragile X syndrome: A literature review and modelling study. Health Technol Assess 7(16):1-106.
-
(2003)
Health Technol Assess
, vol.7
, Issue.16
, pp. 1-106
-
-
Song, F.J.1
Barton, P.2
Sleightholme, V.3
Yao, G.L.4
Fry-Smith, A.5
-
34
-
-
0036091566
-
Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range
-
Sullivan AK, Crawford DC, Scott EH, Leslie ML, Sherman SL. 2002. Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range. Am J Hum Genet 70:1532-1544.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 1532-1544
-
-
Sullivan, A.K.1
Crawford, D.C.2
Scott, E.H.3
Leslie, M.L.4
Sherman, S.L.5
-
35
-
-
84871373139
-
FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States
-
Tassone F, Iong KP, Tong TH, Lo J, Gane LW, Berry-Kravis E, Nguyen D, Mu LY, Laffin J, Bailey DB, Hagerman RJ. 2012. FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States. Genome Med 4(12):100.
-
(2012)
Genome Med
, vol.4
, Issue.12
, pp. 100
-
-
Tassone, F.1
Iong, K.P.2
Tong, T.H.3
Lo, J.4
Gane, L.W.5
Berry-Kravis, E.6
Nguyen, D.7
Mu, L.Y.8
Laffin, J.9
Bailey, D.B.10
Hagerman, R.J.11
-
36
-
-
0034917943
-
Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel
-
Toledano-Alhadef H, Basel-Vanagaite L, Magal N, Davidov B, Ehrlich S, Drasinover V, Taub E, Halpern GJ, Ginott N, Shohat M. 2001. Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel. Am J Hum Genet 69:351-360.
-
(2001)
Am J Hum Genet
, 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
Taub, E.7
Halpern, G.J.8
Ginott, N.9
Shohat, M.10
-
37
-
-
12944300322
-
Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotype
-
Tzeng CC, Tsai LP, Hwu WL, Lin SJ, Chao MC, Jong YJ, Chu SY, Chao WC, Lu CL. 2005. Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotype. Am J Med Genet Part A 133A:37-43.
-
(2005)
Am J Med Genet Part A
, vol.133 A
, pp. 37-43
-
-
Tzeng, C.C.1
Tsai, L.P.2
Hwu, W.L.3
Lin, S.J.4
Chao, M.C.5
Jong, Y.J.6
Chu, S.Y.7
Chao, W.C.8
Lu, C.L.9
-
38
-
-
84879401165
-
-
United States Census Bureau. American Community Survey Available at: (Accessed Jan 28, 2013)
-
United States Census Bureau. 2011. American Community Survey Available at: http://factfinder2.census.gov/faces/tableservices/jsf/pages/productview.xhtml?pid=ACS_11_1YR_B01001H&prodType=table (Accessed Jan 28, 2013).
-
(2011)
-
-
|