-
1
-
-
33645314905
-
Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation
-
Bodega B, Bione S, Dalpra L, et al. (2006) Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation. Hum Reprod 21:952-957.
-
(2006)
Hum Reprod
, vol.21
, pp. 952-957
-
-
Bodega, B.1
Bione, S.2
Dalpra, L.3
-
2
-
-
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 117:376-382.
-
(2005)
Hum Genet
, vol.117
, pp. 376-382
-
-
Bretherick, K.L.1
Fluker, M.R.2
Robinson, W.P.3
-
3
-
-
77956816409
-
An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for Southern blot analysis
-
Chen L, Hadd A, Sah S, et al. (2010) An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for Southern blot analysis. J Mol Diagn 12:589-600.
-
(2010)
J Mol Diagn
, vol.12
, pp. 589-600
-
-
Chen, L.1
Hadd, A.2
Sah, S.3
-
4
-
-
79959234736
-
High-resolution methylation polymerase chain reaction for fragile X analysis: Evidence for novel FMR1 methylation patterns undetected in Southern blot analyses
-
Chen L, Hadd A, Sah S, et al. (2011) High-resolution methylation polymerase chain reaction for fragile X analysis: Evidence for novel FMR1 methylation patterns undetected in Southern blot analyses. Genet Med 13:528-538.
-
(2011)
Genet Med
, vol.13
, pp. 528-538
-
-
Chen, L.1
Hadd, A.2
Sah, S.3
-
5
-
-
70350519151
-
Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA
-
Coffee B, Keith K, Albizua I, et al. (2009) Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet 85:503-514.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 503-514
-
-
Coffee, B.1
Keith, K.2
Albizua, I.3
-
6
-
-
77949711819
-
Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype
-
Collins SC, Coffee B, Benke PJ, et al. (2010) Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype. PLoS One 5:e9476.
-
(2010)
PLoS One
, vol.5
-
-
Collins, S.C.1
Coffee, B.2
Benke, P.J.3
-
7
-
-
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, et al. (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
-
8
-
-
0028168645
-
Length of uninterrupted CGG repeats determines instability in the FMR1 gene
-
Eichler EE, Holden JJ, Popovich BW, et al. (1994) Length of uninterrupted CGG repeats determines instability in the FMR1 gene. Nat Genet 8:88-94.
-
(1994)
Nat Genet
, vol.8
, pp. 88-94
-
-
Eichler, E.E.1
Holden, J.J.2
Popovich, B.W.3
-
9
-
-
0031046778
-
Fragile X mental retardation protein: Nucleocytoplasmic shuttling and association with somatodendritic ribosomes
-
Feng Y, Gutekunst CA, Eberhart DE, et al. (1997) Fragile X mental retardation protein: Nucleocytoplasmic shuttling and association with somatodendritic ribosomes. J Neurosci 17: 1539-1547.
-
(1997)
J Neurosci
, vol.17
, pp. 1539-1547
-
-
Feng, Y.1
Gutekunst, C.A.2
Eberhart, D.E.3
-
10
-
-
69249093477
-
Expansion of an FMR1 grey-zone allele to a full mutation in two generations
-
Fernandez-Carvajal I, Lopez Posadas B, Pan R, et al. (2009) Expansion of an FMR1 grey-zone allele to a full mutation in two generations. J Mol Diagn 11:306-310.
-
(2009)
J Mol Diagn
, vol.11
, pp. 306-310
-
-
Fernandez-Carvajal, I.1
Lopez Posadas, B.2
Pan, R.3
-
11
-
-
77649221039
-
A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome
-
Filipovic-Sadic S, Sah S, Chen L, et al. (2010) A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome. Clin Chem 56:399-408.
-
(2010)
Clin Chem
, vol.56
, pp. 399-408
-
-
Filipovic-Sadic, S.1
Sah, S.2
Chen, L.3
-
12
-
-
0026345716
-
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
-
Fu YH, Kuhl DP, Pizzuti A, et al. (1991) Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox. Cell 67:1047-1058.
-
(1991)
Cell
, vol.67
, pp. 1047-1058
-
-
Fu, Y.H.1
Kuhl, D.P.2
Pizzuti, A.3
-
13
-
-
78751627969
-
Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: Implications for fragile X syndrome carrier and newborn screening
-
Hantash FM, Goos DG, Tsao D, et al. (2010) Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: Implications for fragile X syndrome carrier and newborn screening. Genet Med 12:162-173.
-
(2010)
Genet Med
, vol.12
, pp. 162-173
-
-
Hantash, F.M.1
Goos, D.G.2
Tsao, D.3
-
14
-
-
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 (2008) Clinical significance of tri-nucleotide repeats in Fragile X testing: A clarification of American College of Medical Genetics guidelines. Genet Med 10:845-847.
-
(2008)
Genet Med
, vol.10
, pp. 845-847
-
-
Kronquist, K.E.1
Sherman, S.L.2
Spector, E.B.3
-
15
-
-
73349116887
-
Translation of the FMR1 mRNA is not influenced by AGG interruptions
-
Ludwig AL, Raske C, Tassone F, et al. (2009) Translation of the FMR1 mRNA is not influenced by AGG interruptions. Nucleic Acids Res 37:6896-6904.
-
(2009)
Nucleic Acids Res
, vol.37
, pp. 6896-6904
-
-
Ludwig, A.L.1
Raske, C.2
Tassone, F.3
-
16
-
-
77954378964
-
A Simple, high-throughput assay for fragile X expanded alleles using triple repeat primed PCR and capillary electrophoresis
-
Lyon E, Laver T, Yu P, et al. (2010) A Simple, high-throughput assay for fragile X expanded alleles using triple repeat primed PCR and capillary electrophoresis. J Mol Diagn 12:505-511.
-
(2010)
J Mol Diagn
, vol.12
, pp. 505-511
-
-
Lyon, E.1
Laver, T.2
Yu, P.3
-
17
-
-
0037320928
-
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles
-
Nolin SL, Brown WT, Glicksman A, et al. (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
-
18
-
-
55949085788
-
Methylation-specific multiplex ligation-dependent probe amplification enables a rapid and reliable distinction between male FMR1 premutation and full-mutation alleles
-
Nygren AO, Lens SI, Carvalho R (2008) Methylation-specific multiplex ligation-dependent probe amplification enables a rapid and reliable distinction between male FMR1 premutation and full-mutation alleles. J Mol Diagn 10:496-501.
-
(2008)
J Mol Diagn
, vol.10
, pp. 496-501
-
-
Nygren, A.O.1
Lens, S.I.2
Carvalho, R.3
-
20
-
-
27644507366
-
Fragile X syndrome: Diagnostic and carrier testing
-
Sherman S, Pletcher BA, Driscoll DA (2005) Fragile X syndrome: Diagnostic and carrier testing. Genet Med 7:584-587.
-
(2005)
Genet Med
, vol.7
, pp. 584-587
-
-
Sherman, S.1
Pletcher, B.A.2
Driscoll, D.A.3
-
21
-
-
0027525069
-
Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population
-
Snow K, Doud LK, Hagerman R, et al. (1993) Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population. Am J Hum Genet 53:1217-1228.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 1217-1228
-
-
Snow, K.1
Doud, L.K.2
Hagerman, R.3
-
22
-
-
33846199099
-
Molecular testing for fragile X syndrome: Lessons learned from 119,232 tests performed in a clinical laboratory
-
Strom CM, Crossley B, Redman JB, et al. (2007a) Molecular testing for fragile X syndrome: Lessons learned from 119,232 tests performed in a clinical laboratory. Genet Med 9:46-51.
-
(2007)
Genet Med
, vol.9
, pp. 46-51
-
-
Strom, C.M.1
Crossley, B.2
Redman, J.B.3
-
23
-
-
34247199549
-
Development of a novel, accurate, automated, rapid, high-throughput technique suitable for population-based carrier screening for Fragile X syndrome
-
Strom CM, Huang D, Li Y, et al. (2007b) Development of a novel, accurate, automated, rapid, high-throughput technique suitable for population-based carrier screening for Fragile X syndrome. Genet Med 9:199-207.
-
(2007)
Genet Med
, vol.9
, pp. 199-207
-
-
Strom, C.M.1
Huang, D.2
Li, Y.3
-
24
-
-
33947722883
-
Elevated FMR1 mRNA in premutation carriers is due to increased transcription
-
Tassone F, Beilina A, Carosi C, Albertosi S, et al. (2007) Elevated FMR1 mRNA in premutation carriers is due to increased transcription. Rna 13:555-562.
-
(2007)
Rna
, vol.13
, pp. 555-562
-
-
Tassone, F.1
Beilina, A.2
Carosi, C.3
Albertosi, S.4
-
25
-
-
38749141432
-
A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations
-
Tassone F, Pan R, Amiri K, et al. (2008) A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations. J Mol Diagn 10:43-49.
-
(2008)
J Mol Diagn
, vol.10
, pp. 43-49
-
-
Tassone, F.1
Pan, R.2
Amiri, K.3
-
26
-
-
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, et al. (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
|