-
1
-
-
0035746538
-
FMR1 and the fragile X syndrome: Human genome epidemiology review
-
Crawford DC, Acuna JM, Sherman SL: FMR1 and the fragile X syndrome: human genome epidemiology review. Genet Med 2001, 3:359-371.
-
(2001)
Genet Med
, vol.3
, pp. 359-371
-
-
Crawford, D.C.1
Acuna, J.M.2
Sherman, S.L.3
-
2
-
-
59449085928
-
Advances in the treatment of fragile X syndrome
-
Hagerman RJ, Berry-Kravis E, Kaufmann WE, Ono MY, Tartaglia N, Lachiewicz A, Kronk R, Delahunty C, Hessl D, Visootsak J, Picker J, Gane L, Tranfaglia M: Advances in the treatment of fragile X syndrome. Pediatrics 2009, 123:378-390.
-
(2009)
Pediatrics
, vol.123
, pp. 378-390
-
-
Hagerman, R.J.1
Berry-Kravis, E.2
Kaufmann, W.E.3
Ono, M.Y.4
Tartaglia, N.5
Lachiewicz, A.6
Kronk, R.7
Delahunty, C.8
Hessl, D.9
Visootsak, J.10
Picker, J.11
Gane, L.12
Tranfaglia, M.13
-
3
-
-
0025833298
-
Absence of expression of the FMR-1 gene in fragile X syndrome
-
Pieretti M, Zhang FP, Fu YH, Warren ST, Oostra BA, Caskey CT, Nelson DL: Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 1991, 66:817-822.
-
(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
-
4
-
-
79952751389
-
A nonsense mutation in FMR1 causing fragile X syndrome
-
Grønskov K, Brøndum-Nielsen K, Dedic A, Hjalgrim H: A nonsense mutation in FMR1 causing fragile X syndrome. Eur J Hum Genet 2011, 19:489-491.
-
(2011)
Eur J Hum Genet
, vol.19
, pp. 489-491
-
-
Grønskov, K.1
Brøndum-Nielsen, K.2
Dedic, A.3
Hjalgrim, H.4
-
5
-
-
43049104170
-
Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis
-
Bradford C, Ikeda M, Budimirovic DB, Hjelm LN, Kaufmann WE, Warren ST: Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis. Am J Med Genet A 2008, 146A:1358-1367.
-
(2008)
Am J Med Genet A
, vol.146 A
, pp. 1358-1367
-
-
Bradford, C.1
Ikeda, M.2
Budimirovic, D.B.3
Hjelm, L.N.4
Kaufmann, W.E.5
Warren, S.T.6
-
6
-
-
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: The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. Nat Genet 1993, 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
-
7
-
-
0037423293
-
The fragile X syndrome protein FMRP associates with BC1 RNA and regulates the translation of specific mRNAs at synapses
-
Zalfa F, Giorgi M, Primerano B, Moro A, Di Penta A, Reis S, Oostra B, Bagni C: The fragile X syndrome protein FMRP associates with BC1 RNA and regulates the translation of specific mRNAs at synapses. Cell 2003, 112:317-327.
-
(2003)
Cell
, vol.112
, pp. 317-327
-
-
Zalfa, F.1
Giorgi, M.2
Primerano, B.3
Moro, A.4
Di Penta, A.5
Reis, S.6
Oostra, B.7
Bagni, C.8
-
8
-
-
3042647610
-
The mGluR theory of fragile X mental retardation
-
Bear MF, Huber KM, Warren ST: The mGluR theory of fragile X mental retardation. Trends Neurosci 2004, 27:370-377.
-
(2004)
Trends Neurosci
, vol.27
, pp. 370-377
-
-
Bear, M.F.1
Huber, K.M.2
Warren, S.T.3
-
9
-
-
37049032616
-
Correction of fragile X syndrome in mice
-
Dolen G, Osterweil E, Rao BS, Smith GB, Auerbach BD, Chattarji S, Bear MF: Correction of fragile X syndrome in mice. Neuron 2007, 56:955-962.
-
(2007)
Neuron
, vol.56
, pp. 955-962
-
-
Dolen, G.1
Osterweil, E.2
Rao, B.S.3
Smith, G.B.4
Auerbach, B.D.5
Chattarji, S.6
Bear, M.F.7
-
10
-
-
78650937072
-
Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056
-
Jacquemont S, Curie A, Des Portes V, Torrioli MG, Berry-Kravis E, Hagerman RJ, Ramos FJ, Cornish K, He Y, Paulding C, Neri G, Chen F, Hadjikhani N, Martinet D, Meyer J, Beckmann JS, Delange K, Brun A, Bussy G, Gasparini F, Hilse T, Floesser A, Branson J, Bilbe G, Johns D, Gomez-Mancilla B: Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056. Sci Transl Med 2011, 3:64ra1.
-
Sci Transl Med 2011
, vol.3
-
-
Jacquemont, S.1
Curie, A.2
des Portes, V.3
Torrioli, M.G.4
Berry-Kravis, E.5
Hagerman, R.J.6
Ramos, F.J.7
Cornish, K.8
He, Y.9
Paulding, C.10
Neri, G.11
Chen, F.12
Hadjikhani, N.13
Martinet, D.14
Meyer, J.15
Beckmann, J.S.16
Delange, K.17
Brun, A.18
Bussy, G.19
Gasparini, F.20
Hilse, T.21
Floesser, A.22
Branson, J.23
Bilbe, G.24
Johns, D.25
Gomez-Mancilla, B.26
more..
-
11
-
-
69249084981
-
A quantitative ELISA assay for the fragile x mental retardation 1 protein
-
Iwahashi C, Tassone F, Hagerman RJ, Yasui D, Parrott G, Nguyen D, Mayeur G, Hagerman PJ: A quantitative ELISA assay for the fragile x mental retardation 1 protein. J Mol Diagn 2009, 11:281-289.
-
(2009)
J Mol Diagn
, vol.11
, pp. 281-289
-
-
Iwahashi, C.1
Tassone, F.2
Hagerman, R.J.3
Yasui, D.4
Parrott, G.5
Nguyen, D.6
Mayeur, G.7
Hagerman, P.J.8
-
12
-
-
0033365407
-
Noninvasive test for fragile X syndrome, using hair root analysis
-
Willemsen R, Anar B, De Diego Otero Y, de Vries BB, Hilhorst-Hofstee Y, Smits A, van Looveren E, Willems PJ, Galjaard H, Oostra BA: Noninvasive test for fragile X syndrome, using hair root analysis. Am J Hum Genet 1999, 65:98-103.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 98-103
-
-
Willemsen, R.1
Anar, B.2
De Diego Otero, Y.3
de Vries, B.B.4
Hilhorst-Hofstee, Y.5
Smits, A.6
van Looveren, E.7
Willems, P.J.8
Galjaard, H.9
Oostra, B.A.10
-
13
-
-
84866904835
-
Novel one-step immunoassays to quantify alpha-synuclein: Applications for biomarker development and high-throughput screening
-
Bidinosti M, Shimshek DR, Mollenhauer B, Marcellin D, Schweizer T, Lotz GP, Schlossmacher MG, Weiss A: Novel one-step immunoassays to quantify alpha-synuclein: applications for biomarker development and high-throughput screening. J Biol Chem 2012, 287:33691-705
-
(2012)
J Biol Chem
, vol.287
, pp. 33691-33705
-
-
Bidinosti, M.1
Shimshek, D.R.2
Mollenhauer, B.3
Marcellin, D.4
Schweizer, T.5
Lotz, G.P.6
Schlossmacher, M.G.7
Weiss, A.8
-
14
-
-
67649370543
-
Limit of blank, limit of detection and limit of quantitation
-
Armbruster DA, Pry T: Limit of blank, limit of detection and limit of quantitation. Clin Biochem Rev 2008, 29(Suppl 1):49-52.
-
(2008)
Clin Biochem Rev
, vol.29
, Issue.SUPPL. 1
, pp. 49-52
-
-
Armbruster, D.A.1
Pry, T.2
-
15
-
-
0033003760
-
A simple statistical parameter for use in evaluation and validation of high throughput screening assays
-
Zhang JH, Chung TD, Oldenburg KR: A simple statistical parameter for use in evaluation and validation of high throughput screening assays. J Biomol Screen 1999, 4:67-73.
-
(1999)
J Biomol Screen
, vol.4
, pp. 67-73
-
-
Zhang, J.H.1
Chung, T.D.2
Oldenburg, K.R.3
-
16
-
-
41949125454
-
SIRT1 inhibition alleviates gene silencing in Fragile X mental retardation syndrome
-
Biacsi R, Kumari D, Usdin K: SIRT1 inhibition alleviates gene silencing in Fragile X mental retardation syndrome. PLoS Genet 2008,4:e1000017
-
(2008)
PLoS Genet
, vol.4
-
-
Biacsi, R.1
Kumari, D.2
Usdin, K.3
-
17
-
-
0032905253
-
Acetylated histones are associated with FMR1 in normal but not fragile X-syndrome cells
-
Coffee B, Zhang F, Warren ST, Reines D: Acetylated histones are associated with FMR1 in normal but not fragile X-syndrome cells. Nat Genet 1999, 22:98-101
-
(1999)
Nat Genet
, vol.22
, pp. 98-101
-
-
Coffee, B.1
Zhang, F.2
Warren, S.T.3
Reines, D.4
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