-
1
-
-
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. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991: 65: 905-914.
-
(1991)
Cell
, vol.65
, pp. 905-914
-
-
Verkerk, A.J.1
Pieretti, M.2
Sutcliffe, J.S.3
-
2
-
-
0001966753
-
Physical and behavioral phenotype.
-
In: Hagerman RJ, Silverman AC, eds. Baltimore and London: The John Hopkins University Press
-
Hagerman RJ. Physical and behavioral phenotype. In: Hagerman RJ, Silverman AC, eds. Fragile X syndrome: diagnosis, treatment and research. Baltimore and London: The John Hopkins University Press, 1996: 3-87.
-
(1996)
Fragile X syndrome: diagnosis, treatment and research.
, pp. 3-87
-
-
Hagerman, R.J.1
-
3
-
-
0029895568
-
Molecular-clinical correlations in males with an expanded FMR1 mutation.
-
Merenstein SA, Sobesky WE, Taylor AK et al. Molecular-clinical correlations in males with an expanded FMR1 mutation. Am J Med Genet 1996: 64: 388-394.
-
(1996)
Am J Med Genet
, vol.64
, pp. 388-394
-
-
Merenstein, S.A.1
Sobesky, W.E.2
Taylor, A.K.3
-
4
-
-
0026347628
-
Fragile X genotype characterized by an unstable region of DNA.
-
Yu S, Pritchard M, Kremer E et al. Fragile X genotype characterized by an unstable region of DNA. Science 1991: 252: 1179-1181.
-
(1991)
Science
, vol.252
, pp. 1179-1181
-
-
Yu, S.1
Pritchard, M.2
Kremer, E.3
-
5
-
-
0026339303
-
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome.
-
Oberlé I, Rousseau F, Heitz D et al. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 1991: 252: 1097-1102.
-
(1991)
Science
, vol.252
, pp. 1097-1102
-
-
Oberlé, I.1
Rousseau, F.2
Heitz, D.3
-
6
-
-
0025970882
-
Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome.
-
Bell MV, Hirst MC, Nakahori Y et al. Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome. Cell 1991: 64: 861-866.
-
(1991)
Cell
, vol.64
, pp. 861-866
-
-
Bell, M.V.1
Hirst, M.C.2
Nakahori, Y.3
-
7
-
-
0345393814
-
Reactivation of silenced genes and transcriptional therapy.
-
Chiurazzi P, Neri G. Reactivation of silenced genes and transcriptional therapy. Cytogenet Genome Res 2003: 100: 56-64.
-
(2003)
Cytogenet Genome Res
, vol.100
, pp. 56-64
-
-
Chiurazzi, P.1
Neri, G.2
-
8
-
-
19944431036
-
Molecular dissection of the events leading to inactivation of the FMR1 gene.
-
Pietrobono R, Tabolacci E, Zalfa F et al. Molecular dissection of the events leading to inactivation of the FMR1 gene. Hum Mol Genet 2005: 14: 267-277.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 267-277
-
-
Pietrobono, R.1
Tabolacci, E.2
Zalfa, F.3
-
9
-
-
35848937244
-
Developmental study of fragile X syndrome using human embryonic stem cells derived from preimplantation genetically diagnosed embryos.
-
Eiges R, Urbach A, Malcov M et al. Developmental study of fragile X syndrome using human embryonic stem cells derived from preimplantation genetically diagnosed embryos. Cell Stem Cell 2007: 1: 568-577.
-
(2007)
Cell Stem Cell
, vol.1
, pp. 568-577
-
-
Eiges, R.1
Urbach, A.2
Malcov, M.3
-
10
-
-
59849089676
-
Microsatellite repeat instability and neurological disease.
-
Brouwer JR, Willemsen R, Oostra BA. Microsatellite repeat instability and neurological disease. Bioessays 2009: 31: 71-83.
-
(2009)
Bioessays
, vol.31
, pp. 71-83
-
-
Brouwer, J.R.1
Willemsen, R.2
Oostra, B.A.3
-
12
-
-
0035900649
-
Fragile X mental retardation protein targets G quartet mRNAs important for neuronal function.
-
Darnell JC, Jensen KB, Jin P et al. Fragile X mental retardation protein targets G quartet mRNAs important for neuronal function. Cell 2001: 107: 489-499.
-
(2001)
Cell
, vol.107
, pp. 489-499
-
-
Darnell, J.C.1
Jensen, K.B.2
Jin, P.3
-
13
-
-
17444384228
-
Kissing complex RNAs mediate interaction between the fragile-X mental retardation protein KH2 domain and brain polyribosomes.
-
Darnell JC, Fraser CE, Mostovetsky O et al. Kissing complex RNAs mediate interaction between the fragile-X mental retardation protein KH2 domain and brain polyribosomes. Genes Dev 2005: 19: 903-918.
-
(2005)
Genes Dev
, vol.19
, pp. 903-918
-
-
Darnell, J.C.1
Fraser, C.E.2
Mostovetsky, O.3
-
14
-
-
59649126241
-
The FXG: a presynaptic Fragile X granule expressed in a subset of developing brain circuits.
-
Christie SB, Akins MR, Schwob JE et al. The FXG: a presynaptic Fragile X granule expressed in a subset of developing brain circuits. J Neurosci 2009: 29: 1514-1524.
-
(2009)
J Neurosci
, vol.29
, pp. 1514-1524
-
-
Christie, S.B.1
Akins, M.R.2
Schwob, J.E.3
-
15
-
-
33748526877
-
Neuronal RNA granules: movers and makers.
-
Kiebler MA, Bassell GJ. Neuronal RNA granules: movers and makers. Neuron 2006: 51: 685-690.
-
(2006)
Neuron
, vol.51
, pp. 685-690
-
-
Kiebler, M.A.1
Bassell, G.J.2
-
16
-
-
35048886071
-
Developmental expression of FMRP in the astrocyte lineage: implications for fragile X syndrome.
-
Pacey LK, Doering LC. Developmental expression of FMRP in the astrocyte lineage: implications for fragile X syndrome. Glia 2007: 55: 1601-1609.
-
(2007)
Glia
, vol.55
, pp. 1601-1609
-
-
Pacey, L.K.1
Doering, L.C.2
-
17
-
-
77949835797
-
Astrocytes prevent abnormal neuronal development in the fragile X mouse.
-
Jacobs S, Doering LC. Astrocytes prevent abnormal neuronal development in the fragile X mouse. J Neurosci 2010: 30: 4508-4514.
-
(2010)
J Neurosci
, vol.30
, pp. 4508-4514
-
-
Jacobs, S.1
Doering, L.C.2
-
18
-
-
0036889389
-
Transport of fragile X mental retardation protein via granules in neurites of PC12 cells.
-
De Diego Otero Y, Severijnen LA, Van Cappellen G et al. Transport of fragile X mental retardation protein via granules in neurites of PC12 cells. Mol Cell Biol 2002: 22: 8332-8341.
-
(2002)
Mol Cell Biol
, vol.22
, pp. 8332-8341
-
-
De Diego Otero, Y.1
Severijnen, L.A.2
Van Cappellen, G.3
-
19
-
-
0032536361
-
No evidence for disruption of normal patterns of mRNA localization in dendrites or dendritic transport of recently synthesized mRNA in FMR1 knockout mice, a model for human fragile-X mental retardation syndrome.
-
Steward O, Bakker CE, Willems PJ et al. No evidence for disruption of normal patterns of mRNA localization in dendrites or dendritic transport of recently synthesized mRNA in FMR1 knockout mice, a model for human fragile-X mental retardation syndrome. Neuroreport 1998: 9: 477-481.
-
(1998)
Neuroreport
, vol.9
, pp. 477-481
-
-
Steward, O.1
Bakker, C.E.2
Willems, P.J.3
-
20
-
-
44449121279
-
A direct role for FMRP in activity-dependent dendritic mRNA transport links filopodial-spine morphogenesis to fragile X syndrome.
-
Dictenberg JB, Swanger SA, Antar LN et al. A direct role for FMRP in activity-dependent dendritic mRNA transport links filopodial-spine morphogenesis to fragile X syndrome. Dev Cell 2008: 14: 926-939.
-
(2008)
Dev Cell
, vol.14
, pp. 926-939
-
-
Dictenberg, J.B.1
Swanger, S.A.2
Antar, L.N.3
-
21
-
-
0031310667
-
FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association.
-
Feng Y, Absher D, Eberhart DE et al. FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association. Mol Cell 1997: 1: 109-118.
-
(1997)
Mol Cell
, vol.1
, pp. 109-118
-
-
Feng, Y.1
Absher, D.2
Eberhart, D.E.3
-
22
-
-
0027509234
-
A point mutation in the FMR-1 gene associated with fragile X mental retardation.
-
De Boulle K, Verkerk AJ, Reyniers E et al. A point mutation in the FMR-1 gene associated with fragile X mental retardation. Nat Genet 1993: 3: 31-35.
-
(1993)
Nat Genet
, vol.3
, pp. 31-35
-
-
De Boulle, K.1
Verkerk, A.J.2
Reyniers, E.3
-
23
-
-
67649770216
-
Ultrastructural analysis of the functional domains in FMRP using primary hippocampal mouse neurons.
-
Levenga J, Buijsen RA, Rife M et al. Ultrastructural analysis of the functional domains in FMRP using primary hippocampal mouse neurons. Neurobiol Dis 2009: 35: 241-250.
-
(2009)
Neurobiol Dis
, vol.35
, pp. 241-250
-
-
Levenga, J.1
Buijsen, R.A.2
Rife, M.3
-
24
-
-
4544384380
-
Transport kinetics of FMRP containing the I304N mutation of severe fragile X syndrome in neurites of living rat PC12 cells.
-
Schrier M, Severijnen LA, Reis S et al. Transport kinetics of FMRP containing the I304N mutation of severe fragile X syndrome in neurites of living rat PC12 cells. Exp Neurol 2004: 189: 343-353.
-
(2004)
Exp Neurol
, vol.189
, pp. 343-353
-
-
Schrier, M.1
Severijnen, L.A.2
Reis, S.3
-
25
-
-
0035864826
-
Evidence that fragile X mental retardation protein is a negative regulator of translation.
-
Laggerbauer B, Ostareck D, Keidel EM et al. Evidence that fragile X mental retardation protein is a negative regulator of translation. Hum Mol Genet 2001: 10: 329-338.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 329-338
-
-
Laggerbauer, B.1
Ostareck, D.2
Keidel, E.M.3
-
26
-
-
10644270727
-
Fragile X mental retardation protein is necessary for neurotransmitter-activated protein translation at synapses.
-
Weiler IJ, Spangler CC, Klintsova AY et al. Fragile X mental retardation protein is necessary for neurotransmitter-activated protein translation at synapses. Proc Natl Acad Sci USA 2004: 101: 17504-17509.
-
(2004)
Proc Natl Acad Sci USA
, vol.101
, pp. 17504-17509
-
-
Weiler, I.J.1
Spangler, C.C.2
Klintsova, A.Y.3
-
27
-
-
49649106751
-
S6K1 phosphorylates and regulates FMRP with the neuronal protein synthesis-dependent mTOR signaling cascade.
-
Narayanan U, Nalavadi V, Nakamoto M et al. S6K1 phosphorylates and regulates FMRP with the neuronal protein synthesis-dependent mTOR signaling cascade. J Biol Chem 2008: 283: 18478-18482.
-
(2008)
J Biol Chem
, vol.283
, pp. 18478-18482
-
-
Narayanan, U.1
Nalavadi, V.2
Nakamoto, M.3
-
28
-
-
0347382502
-
Phosphorylation influences the translation state of FMRP-associated polyribosomes.
-
Ceman S, O'Donnell WT, Reed M et al. Phosphorylation influences the translation state of FMRP-associated polyribosomes. Hum Mol Genet 2003: 12: 3295-3305.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 3295-3305
-
-
Ceman, S.1
O'Donnell, W.T.2
Reed, M.3
-
29
-
-
37549044298
-
FMRP phosphorylation reveals an immediate-early signaling pathway triggered by group I mGluR and mediated by PP2A.
-
Narayanan U, Nalavadi V, Nakamoto M et al. FMRP phosphorylation reveals an immediate-early signaling pathway triggered by group I mGluR and mediated by PP2A. J Neurosci 2007: 27: 14349-14357.
-
(2007)
J Neurosci
, vol.27
, pp. 14349-14357
-
-
Narayanan, U.1
Nalavadi, V.2
Nakamoto, M.3
-
30
-
-
0036791671
-
A Drosophila fragile X protein interacts with components of RNAi and ribosomal proteins.
-
Ishizuka A, Siomi MC, Siomi H. A Drosophila fragile X protein interacts with components of RNAi and ribosomal proteins. Genes Dev 2002: 16: 2497-2508.
-
(2002)
Genes Dev
, vol.16
, pp. 2497-2508
-
-
Ishizuka, A.1
Siomi, M.C.2
Siomi, H.3
-
31
-
-
1642540373
-
Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway.
-
Jin P, Zarnescu DC, Ceman S et al. Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway. Nat Neurosci 2004: 7: 113-117.
-
(2004)
Nat Neurosci
, vol.7
, pp. 113-117
-
-
Jin, P.1
Zarnescu, D.C.2
Ceman, S.3
-
32
-
-
51649130773
-
Expression of microRNAs and their precursors in synaptic fractions of adult mouse forebrain.
-
Lugli G, Torvik VI, Larson J et al. Expression of microRNAs and their precursors in synaptic fractions of adult mouse forebrain. J Neurochem 2008: 106: 650-661.
-
(2008)
J Neurochem
, vol.106
, pp. 650-661
-
-
Lugli, G.1
Torvik, V.I.2
Larson, J.3
-
33
-
-
75949101467
-
Regulation of synaptic structure and function by FMRP-associated microRNAs miR-125b and miR-132.
-
Edbauer D, Neilson JR, Foster KA et al. Regulation of synaptic structure and function by FMRP-associated microRNAs miR-125b and miR-132. Neuron 2010: 65: 373-384.
-
(2010)
Neuron
, vol.65
, pp. 373-384
-
-
Edbauer, D.1
Neilson, J.R.2
Foster, K.A.3
-
34
-
-
79957461232
-
Neuropathologic features in the hippocampus and cerebellum of three older men with fragile X syndrome.
-
Greco CM, Navarro CS, Hunsaker MR et al. Neuropathologic features in the hippocampus and cerebellum of three older men with fragile X syndrome. Mol Autism 2011: 2: 2.
-
(2011)
Mol Autism
, vol.2
, pp. 2
-
-
Greco, C.M.1
Navarro, C.S.2
Hunsaker, M.R.3
-
35
-
-
0035863624
-
Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: a quantitative examination.
-
Irwin SA, Patel B, Idupulapati M et al. Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: a quantitative examination. Am J Med Genet 2001: 98: 161-167.
-
(2001)
Am J Med Genet
, vol.98
, pp. 161-167
-
-
Irwin, S.A.1
Patel, B.2
Idupulapati, M.3
-
36
-
-
0030986183
-
Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits.
-
Comery TA, Harris JB, Willems PJ et al. Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits. Proc Natl Acad Sci USA 1997: 94: 5401-5404.
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 5401-5404
-
-
Comery, T.A.1
Harris, J.B.2
Willems, P.J.3
-
37
-
-
0037158482
-
Dendritic spine and dendritic field characteristics of layer V pyramidal neurons in the visual cortex of fragile-X knockout mice.
-
Irwin SA, Idupulapati M, Gilbert ME et al. Dendritic spine and dendritic field characteristics of layer V pyramidal neurons in the visual cortex of fragile-X knockout mice. Am J Med Genet 2002: 111: 140-146.
-
(2002)
Am J Med Genet
, vol.111
, pp. 140-146
-
-
Irwin, S.A.1
Idupulapati, M.2
Gilbert, M.E.3
-
38
-
-
0035879180
-
Abnormal development of dendritic spines in fmr1 knock-out mice.
-
Nimchinsky EA, Oberlander AM, Svoboda K. Abnormal development of dendritic spines in fmr1 knock-out mice. J Neurosci 2001: 21: 5139-5146.
-
(2001)
J Neurosci
, vol.21
, pp. 5139-5146
-
-
Nimchinsky, E.A.1
Oberlander, A.M.2
Svoboda, K.3
-
39
-
-
20044388939
-
Sequence of abnormal dendritic spine development in primary somatosensory cortex of a mouse model of the fragile X mental retardation syndrome.
-
Galvez R, Greenough WT. Sequence of abnormal dendritic spine development in primary somatosensory cortex of a mouse model of the fragile X mental retardation syndrome. Am J Med Genet A 2005: 135: 155-160.
-
(2005)
Am J Med Genet A
, vol.135
, pp. 155-160
-
-
Galvez, R.1
Greenough, W.T.2
-
40
-
-
33746892681
-
Hippocampal pyramidal cells in adult Fmr1 knockout mice exhibit an immature-appearing profile of dendritic spines.
-
Grossman AW, Elisseou NM, McKinney BC et al. Hippocampal pyramidal cells in adult Fmr1 knockout mice exhibit an immature-appearing profile of dendritic spines. Brain Res 2006: 1084: 158-164.
-
(2006)
Brain Res
, vol.1084
, pp. 158-164
-
-
Grossman, A.W.1
Elisseou, N.M.2
McKinney, B.C.3
-
41
-
-
33744966575
-
Local functions for FMRP in axon growth cone motility and activity-dependent regulation of filopodia and spine synapses.
-
Antar LN, Li C, Zhang H et al. Local functions for FMRP in axon growth cone motility and activity-dependent regulation of filopodia and spine synapses. Mol Cell Neurosci 2006: 32: 37-48.
-
(2006)
Mol Cell Neurosci
, vol.32
, pp. 37-48
-
-
Antar, L.N.1
Li, C.2
Zhang, H.3
-
42
-
-
44949125523
-
Rescue of behavioral phenotype and neuronal protrusion morphology in FMR1 KO mice.
-
De Vrij FMS, Levenga J, Van der Linde HC et al. Rescue of behavioral phenotype and neuronal protrusion morphology in FMR1 KO mice. Neurobiol Dis 2008: 31: 127-132.
-
(2008)
Neurobiol Dis
, vol.31
, pp. 127-132
-
-
De Vrij, F.M.S.1
Levenga, J.2
Van der Linde, H.C.3
-
43
-
-
0028246435
-
Fmr1 knockout mice: a model to study fragile X mental retardation.
-
Bakker CE, Verheij C, Willemsen R et al. Fmr1 knockout mice: a model to study fragile X mental retardation. Cell 1994: 78: 23-33.
-
(1994)
Cell
, vol.78
, pp. 23-33
-
-
Bakker, C.E.1
Verheij, C.2
Willemsen, R.3
-
44
-
-
33244492432
-
The generation of a conditional Fmr1 knock out mouse model to study Fmrp function in vivo.
-
Mientjes EJ, Nieuwenhuizen I, Kirkpatrick L et al. The generation of a conditional Fmr1 knock out mouse model to study Fmrp function in vivo. Neurobiol Dis 2006: 21: 549-555.
-
(2006)
Neurobiol Dis
, vol.21
, pp. 549-555
-
-
Mientjes, E.J.1
Nieuwenhuizen, I.2
Kirkpatrick, L.3
-
45
-
-
0033987591
-
Audiogenic seizures susceptibility in transgenic mice with fragile X syndrome.
-
Musumeci SA, Bosco P, Calabrese G et al. Audiogenic seizures susceptibility in transgenic mice with fragile X syndrome. Epilepsia 2000: 41: 19-23.
-
(2000)
Epilepsia
, vol.41
, pp. 19-23
-
-
Musumeci, S.A.1
Bosco, P.2
Calabrese, G.3
-
46
-
-
0037372019
-
Of mice and the fragile X syndrome.
-
Kooy RF. Of mice and the fragile X syndrome. Trends Genet 2003: 19: 148-154.
-
(2003)
Trends Genet
, vol.19
, pp. 148-154
-
-
Kooy, R.F.1
-
47
-
-
0344962385
-
Understanding fragile X syndrome: insights from animal models.
-
Bakker CE, Oostra BA. Understanding fragile X syndrome: insights from animal models. Cytogenet Genome Res 2003: 100: 111-123.
-
(2003)
Cytogenet Genome Res
, vol.100
, pp. 111-123
-
-
Bakker, C.E.1
Oostra, B.A.2
-
48
-
-
0035977134
-
Drosophila fragile X-related gene regulates the MAP1B homolog futsch to control synaptic structure and function.
-
Zhang YQ, Bailey AM, Matthies HJ et al. Drosophila fragile X-related gene regulates the MAP1B homolog futsch to control synaptic structure and function. Cell 2001: 107: 591-603.
-
(2001)
Cell
, vol.107
, pp. 591-603
-
-
Zhang, Y.Q.1
Bailey, A.M.2
Matthies, H.J.3
-
49
-
-
60849129819
-
The Drosophila fragile x mental retardation gene regulates sleep need.
-
Bushey D, Tononi G, Cirelli C. The Drosophila fragile x mental retardation gene regulates sleep need. J Neurosci 2009: 29: 1948-1961.
-
(2009)
J Neurosci
, vol.29
, pp. 1948-1961
-
-
Bushey, D.1
Tononi, G.2
Cirelli, C.3
-
50
-
-
20044388322
-
Pharmacological rescue of synaptic plasticity, courtship behavior, and mushroom body defects in a Drosophila model of fragile X syndrome.
-
McBride SM, Choi CH, Wang Y et al. Pharmacological rescue of synaptic plasticity, courtship behavior, and mushroom body defects in a Drosophila model of fragile X syndrome. Neuron 2005: 45: 753-764.
-
(2005)
Neuron
, vol.45
, pp. 753-764
-
-
McBride, S.M.1
Choi, C.H.2
Wang, Y.3
-
51
-
-
33751353757
-
Contribution of mGluR and Fmr1 functional pathways to neurite morphogenesis, craniofacial development and fragile X syndrome.
-
Tucker B, Richards RI, Lardelli M. Contribution of mGluR and Fmr1 functional pathways to neurite morphogenesis, craniofacial development and fragile X syndrome. Hum Mol Genet 2006: 15: 3446-3458.
-
(2006)
Hum Mol Genet
, vol.15
, pp. 3446-3458
-
-
Tucker, B.1
Richards, R.I.2
Lardelli, M.3
-
53
-
-
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
-
54
-
-
34447621203
-
The GABA(A) receptor: a novel target for treatment of fragile X?
-
D'Hulst C, Kooy RF. The GABA(A) receptor: a novel target for treatment of fragile X? Trends Neurosci 2007: 30: 425-431.
-
(2007)
Trends Neurosci
, vol.30
, pp. 425-431
-
-
D'Hulst, C.1
Kooy, R.F.2
-
55
-
-
41049102573
-
Identification of small molecules rescuing fragile X syndrome phenotypes in Drosophila.
-
Chang S, Bray SM, Li Z et al. Identification of small molecules rescuing fragile X syndrome phenotypes in Drosophila. Nat Chem Biol 2008: 4: 256-263.
-
(2008)
Nat Chem Biol
, vol.4
, pp. 256-263
-
-
Chang, S.1
Bray, S.M.2
Li, Z.3
-
56
-
-
33750726094
-
Decreased expression of the GABA(A) receptor in fragile X syndrome.
-
D'Hulst C, De Geest N, Reeve SP et al. Decreased expression of the GABA(A) receptor in fragile X syndrome. Brain Res 2006: 1121: 238-245.
-
(2006)
Brain Res
, vol.1121
, pp. 238-245
-
-
D'Hulst, C.1
De Geest, N.2
Reeve, S.P.3
-
57
-
-
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 et al. 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: 64ra61.
-
(2011)
Sci Transl Med
, vol.3
-
-
Jacquemont, S.1
Curie, A.2
des Portes, V.3
-
58
-
-
79954629349
-
AFQ056, a new mGluR5 antagonist for treatment of fragile X syndrome.
-
Levenga J, Hayashi S, de Vrij FM et al. AFQ056, a new mGluR5 antagonist for treatment of fragile X syndrome. Neurobiol Dis 2011: 42: 311-317.
-
(2011)
Neurobiol Dis
, vol.42
, pp. 311-317
-
-
Levenga, J.1
Hayashi, S.2
de Vrij, F.M.3
-
59
-
-
78049336409
-
Potential therapeutic interventions for fragile X syndrome.
-
Levenga J, de Vrij FM, Oostra BA et al. Potential therapeutic interventions for fragile X syndrome. Trends Mol Med 2010: 16: 516-527.
-
(2010)
Trends Mol Med
, vol.16
, pp. 516-527
-
-
Levenga, J.1
de Vrij, F.M.2
Oostra, B.A.3
-
60
-
-
77953537460
-
Mechanism-based approaches to treating fragile X.
-
Dolen G, Carpenter RL, Ocain TD et al. Mechanism-based approaches to treating fragile X. Pharmacol Ther 2010: 127: 78-93.
-
(2010)
Pharmacol Ther
, vol.127
, pp. 78-93
-
-
Dolen, G.1
Carpenter, R.L.2
Ocain, T.D.3
-
61
-
-
79955039243
-
Fragile X syndrome: from gene discovery to therapy.
-
Heulens I, Kooy F. Fragile X syndrome: from gene discovery to therapy. Front Biosci 2011: 16: 1211-1232.
-
(2011)
Front Biosci
, vol.16
, pp. 1211-1232
-
-
Heulens, I.1
Kooy, F.2
-
62
-
-
50049086691
-
The fragile X prevalence paradox.
-
Hagerman PJ. The fragile X prevalence paradox. J Med Genet 2008: 45: 498-499.
-
(2008)
J Med Genet
, vol.45
, pp. 498-499
-
-
Hagerman, P.J.1
-
63
-
-
33947722883
-
Elevated FMR1 mRNA in premutation carriers is due to increased transcription.
-
Tassone F, Beilina A, Carosi C et al. Elevated FMR1 mRNA in premutation carriers is due to increased transcription. RNA 2007: 13: 555-562.
-
(2007)
RNA
, vol.13
, pp. 555-562
-
-
Tassone, F.1
Beilina, A.2
Carosi, C.3
-
64
-
-
79961129446
-
Differential usage of transcriptional start sites and polyadenylation sites in FMR1 premutation alleles.
-
doi: 10.1093/nar/gkr100 (Epub ahead of print).
-
Tassone F, De Rubeis S, Carosi C et al. Differential usage of transcriptional start sites and polyadenylation sites in FMR1 premutation alleles. Nucleic Acids Res 2011: doi: 10.1093/nar/gkr100 (Epub ahead of print).
-
(2011)
Nucleic Acids Res
-
-
Tassone, F.1
De Rubeis, S.2
Carosi, C.3
-
65
-
-
0035838379
-
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.
-
Hagerman RJ, Leehey M, Heinrichs W et al. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 2001: 57: 127-130.
-
(2001)
Neurology
, vol.57
, pp. 127-130
-
-
Hagerman, R.J.1
Leehey, M.2
Heinrichs, W.3
-
66
-
-
74249119235
-
Fragile X-associated tremor/ataxia syndrome: clinical phenotype, diagnosis, and treatment.
-
Leehey MA. Fragile X-associated tremor/ataxia syndrome: clinical phenotype, diagnosis, and treatment. J Investig Med 2009: 57: 830-836.
-
(2009)
J Investig Med
, vol.57
, pp. 830-836
-
-
Leehey, M.A.1
-
67
-
-
23444442557
-
The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group.
-
Kamm C, Healy DG, Quinn NP et al. The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group. Brain 2005: 128: 1855-1860.
-
(2005)
Brain
, vol.128
, pp. 1855-1860
-
-
Kamm, C.1
Healy, D.G.2
Quinn, N.P.3
-
68
-
-
30344473617
-
Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS).
-
Greco CM, Berman RF, Martin RM et al. Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). Brain 2006: 129: 243-255.
-
(2006)
Brain
, vol.129
, pp. 243-255
-
-
Greco, C.M.1
Berman, R.F.2
Martin, R.M.3
-
69
-
-
2342453253
-
Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation.
-
Hagerman RJ, Leavitt BR, Farzin F et al. Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. Am J Hum Genet 2004: 74: 1051-1056.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 1051-1056
-
-
Hagerman, R.J.1
Leavitt, B.R.2
Farzin, F.3
-
70
-
-
9144252520
-
Penetrance of the fragile x-associated tremor/ataxia syndrome in a premutation carrier population.
-
Jacquemont S, Hagerman RJ, Leehey MA et al. Penetrance of the fragile x-associated tremor/ataxia syndrome in a premutation carrier population. JAMA 2004: 291: 460-469.
-
(2004)
JAMA
, vol.291
, pp. 460-469
-
-
Jacquemont, S.1
Hagerman, R.J.2
Leehey, M.A.3
-
71
-
-
4444249398
-
Screen for expanded FMR1 alleles in patients with essential tremor.
-
Garcia Arocena D, Louis ED, Tassone F et al. Screen for expanded FMR1 alleles in patients with essential tremor. Mov Disord 2004: 19: 930-933.
-
(2004)
Mov Disord
, vol.19
, pp. 930-933
-
-
Garcia Arocena, D.1
Louis, E.D.2
Tassone, F.3
-
72
-
-
79961126036
-
FXTAS: neuropsychological/neuropsychiatric phenotypes.
-
In: Tassone F, Berry-Kravis EM, eds. New York: Springer
-
Grigsby J, Brega AG, Seritan AL et al. FXTAS: neuropsychological/neuropsychiatric phenotypes. In: Tassone F, Berry-Kravis EM, eds. The fragile X-associated tremor ataxia syndrome (FXTAS). New York: Springer, 2010: 31-54.
-
(2010)
The fragile X-associated tremor ataxia syndrome (FXTAS).
, pp. 31-54
-
-
Grigsby, J.1
Brega, A.G.2
Seritan, A.L.3
-
73
-
-
33947268037
-
Testicular and pituitary inclusion formation in fragile X associated tremor/ataxia syndrome.
-
Greco CM, Soontrapornchai K, Wirojanan J et al. Testicular and pituitary inclusion formation in fragile X associated tremor/ataxia syndrome. J Urol 2007: 177: 1434-1437.
-
(2007)
J Urol
, vol.177
, pp. 1434-1437
-
-
Greco, C.M.1
Soontrapornchai, K.2
Wirojanan, J.3
-
74
-
-
0037384643
-
Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates.
-
Jacquemont S, Hagerman RJ, Leehey M 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.3
-
75
-
-
0036345801
-
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers.
-
Greco CM, Hagerman RJ, Tassone F et al. Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain 2002: 125: 1760-1771.
-
(2002)
Brain
, vol.125
, pp. 1760-1771
-
-
Greco, C.M.1
Hagerman, R.J.2
Tassone, F.3
-
76
-
-
0038025990
-
The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome.
-
Willemsen R, Hoogeveen-Westerveld M, Reis S et al. The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome. Hum Mol Genet 2003: 12: 949-959.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 949-959
-
-
Willemsen, R.1
Hoogeveen-Westerveld, M.2
Reis, S.3
-
77
-
-
34247637636
-
Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model.
-
Entezam A, Biacsi R, Orrison B et al. Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model. Gene 2007: 395: 125-134.
-
(2007)
Gene
, vol.395
, pp. 125-134
-
-
Entezam, A.1
Biacsi, R.2
Orrison, B.3
-
78
-
-
67249150481
-
Ectopic expression of CGG containing mRNA is neurotoxic in mammals.
-
Hashem V, Galloway JN, Mori M et al. Ectopic expression of CGG containing mRNA is neurotoxic in mammals. Hum Mol Genet 2009: 18: 2443-2451.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 2443-2451
-
-
Hashem, V.1
Galloway, J.N.2
Mori, M.3
-
79
-
-
39549086548
-
ATR protects the genome against CGG*CGG-repeat expansion in Fragile X premutation mice.
-
Entezam A, Usdin K. ATR protects the genome against CGG*CGG-repeat expansion in Fragile X premutation mice. Nucleic Acids Res 2007: 36: 1050-1056.
-
(2007)
Nucleic Acids Res
, vol.36
, pp. 1050-1056
-
-
Entezam, A.1
Usdin, K.2
-
80
-
-
71049195737
-
ATM and ATR protect the genome against two different types of tandem repeat instability in Fragile X premutation mice.
-
Entezam A, Usdin K. ATM and ATR protect the genome against two different types of tandem repeat instability in Fragile X premutation mice. Nucleic Acids Res 2009: 37: 6371-6377.
-
(2009)
Nucleic Acids Res
, vol.37
, pp. 6371-6377
-
-
Entezam, A.1
Usdin, K.2
-
81
-
-
77951773059
-
Potassium bromate, a potent DNA oxidizing agent, exacerbates germline repeat expansion in a Fragile X premutation mouse model.
-
Entezam A, Lokanga AR, Le W et al. Potassium bromate, a potent DNA oxidizing agent, exacerbates germline repeat expansion in a Fragile X premutation mouse model. Hum Mutat 2010: 31: 611-616.
-
(2010)
Hum Mutat
, vol.31
, pp. 611-616
-
-
Entezam, A.1
Lokanga, A.R.2
Le, W.3
-
82
-
-
33846002696
-
Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation.
-
Brouwer JR, Mientjes EJ, Bakker CE et al. Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation. Exp Cell Res 2007: 313: 244-253.
-
(2007)
Exp Cell Res
, vol.313
, pp. 244-253
-
-
Brouwer, J.R.1
Mientjes, E.J.2
Bakker, C.E.3
-
83
-
-
56749165180
-
CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome.
-
Brouwer JR, Huizer K, Severijnen LA et al. CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome. J Neurochem 2008: 107: 1671-1682.
-
(2008)
J Neurochem
, vol.107
, pp. 1671-1682
-
-
Brouwer, J.R.1
Huizer, K.2
Severijnen, L.A.3
-
84
-
-
72249123025
-
Progressive spatial processing deficits in a mouse model of the fragile X premutation.
-
Hunsaker MR, Wenzel HJ, Willemsen R et al. Progressive spatial processing deficits in a mouse model of the fragile X premutation. Behav Neurosci 2009: 123: 1315-1324.
-
(2009)
Behav Neurosci
, vol.123
, pp. 1315-1324
-
-
Hunsaker, M.R.1
Wenzel, H.J.2
Willemsen, R.3
-
85
-
-
76449105593
-
Ubiquitin-positive intranuclear inclusions in neuronal and glial cells in a mouse model of the fragile X premutation.
-
Wenzel HJ, Hunsaker MR, Greco CM et al. Ubiquitin-positive intranuclear inclusions in neuronal and glial cells in a mouse model of the fragile X premutation. Brain Res 2010: 1318: 155-166.
-
(2010)
Brain Res
, vol.1318
, pp. 155-166
-
-
Wenzel, H.J.1
Hunsaker, M.R.2
Greco, C.M.3
-
86
-
-
20444447397
-
Cognitive decline, neuromotor and behavioural disturbances in a mouse model for Fragile-X-associated tremor/ataxia syndrome (FXTAS).
-
Van Dam D, Errijgers V, Kooy RF et al. Cognitive decline, neuromotor and behavioural disturbances in a mouse model for Fragile-X-associated tremor/ataxia syndrome (FXTAS). Behav Brain Res 2005: 162: 233-239.
-
(2005)
Behav Brain Res
, vol.162
, pp. 233-239
-
-
Van Dam, D.1
Errijgers, V.2
Kooy, R.F.3
-
87
-
-
77953917097
-
Temporal ordering deficits in female CGG KI mice heterozygous for the fragile X premutation.
-
Hunsaker MR, Goodrich-Hunsaker NJ, Willemsen R et al. Temporal ordering deficits in female CGG KI mice heterozygous for the fragile X premutation. Behav Brain Res 2010: 213: 263-268.
-
(2010)
Behav Brain Res
, vol.213
, pp. 263-268
-
-
Hunsaker, M.R.1
Goodrich-Hunsaker, N.J.2
Willemsen, R.3
-
88
-
-
79751535827
-
A mouse model of the fragile X premutation: effects on behavior, dendrite morphology, and regional rates of cerebral protein synthesis.
-
Qin M, Entezam A, Usdin K et al. A mouse model of the fragile X premutation: effects on behavior, dendrite morphology, and regional rates of cerebral protein synthesis. Neurobiol Dis 2011: 42: 85-98.
-
(2011)
Neurobiol Dis
, vol.42
, pp. 85-98
-
-
Qin, M.1
Entezam, A.2
Usdin, K.3
-
89
-
-
0041880131
-
RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila.
-
Jin P, Zarnescu DC, Zhang F et al. RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila. Neuron 2003: 39: 739-747.
-
(2003)
Neuron
, vol.39
, pp. 739-747
-
-
Jin, P.1
Zarnescu, D.C.2
Zhang, F.3
-
90
-
-
75249107845
-
Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome.
-
Galloway JN, Nelson DL. Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome. Future Neurol 2009: 4: 785.
-
(2009)
Future Neurol
, vol.4
, pp. 785
-
-
Galloway, J.N.1
Nelson, D.L.2
-
91
-
-
78650693402
-
Histone deacetylases suppress CGG repeat-induced neurodegeneration via transcriptional silencing in models of fragile X tremor ataxia syndrome.
-
Todd PK, Oh SY, Krans A et al. Histone deacetylases suppress CGG repeat-induced neurodegeneration via transcriptional silencing in models of fragile X tremor ataxia syndrome. PLoS Genet 2010: 6: e1001240.
-
(2010)
PLoS Genet
, vol.6
-
-
Todd, P.K.1
Oh, S.Y.2
Krans, A.3
-
92
-
-
77953884301
-
Advances in understanding the molecular basis of FXTAS.
-
Garcia-Arocena D, Hagerman PJ. Advances in understanding the molecular basis of FXTAS. Hum Mol Genet 2010: 19: R83-R89.
-
(2010)
Hum Mol Genet
, vol.19
-
-
Garcia-Arocena, D.1
Hagerman, P.J.2
-
93
-
-
23944431645
-
FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS).
-
Tassone F, Iwahashi C, Hagerman PJ. FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS). RNA Biol 2004: 1: 103-105.
-
(2004)
RNA Biol
, vol.1
, pp. 103-105
-
-
Tassone, F.1
Iwahashi, C.2
Hagerman, P.J.3
-
94
-
-
34547681603
-
Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome.
-
Jin P, Duan R, Qurashi A et al. Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome. Neuron 2007: 55: 556-564.
-
(2007)
Neuron
, vol.55
, pp. 556-564
-
-
Jin, P.1
Duan, R.2
Qurashi, A.3
-
95
-
-
34547697173
-
RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS.
-
Sofola OA, Jin P, Qin Y et al. RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS. Neuron 2007: 55: 565-571.
-
(2007)
Neuron
, vol.55
, pp. 565-571
-
-
Sofola, O.A.1
Jin, P.2
Qin, Y.3
-
96
-
-
28744442194
-
Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells.
-
Arocena DG, Iwahashi CK, Won N et al. Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells. Hum Mol Genet 2005: 14: 3661-3671.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 3661-3671
-
-
Arocena, D.G.1
Iwahashi, C.K.2
Won, N.3
-
97
-
-
77950529507
-
Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients.
-
Sellier C, Rau F, Liu Y et al. Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients. Embo J 2010: 29: 1248-1261.
-
(2010)
Embo J
, vol.29
, pp. 1248-1261
-
-
Sellier, C.1
Rau, F.2
Liu, Y.3
-
98
-
-
36248967098
-
An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals.
-
Ladd PD, Smith LE, Rabaia NA et al. An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals. Hum Mol Genet 2007: 16: 3174-3187.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 3174-3187
-
-
Ladd, P.D.1
Smith, L.E.2
Rabaia, N.A.3
-
99
-
-
77949444730
-
Fibroblast phenotype in male carriers of FMR1 premutation alleles.
-
Garcia-Arocena D, Yang JE, Brouwer JR et al. Fibroblast phenotype in male carriers of FMR1 premutation alleles. Hum Mol Genet 2009: 19: 299-312.
-
(2009)
Hum Mol Genet
, vol.19
, pp. 299-312
-
-
Garcia-Arocena, D.1
Yang, J.E.2
Brouwer, J.R.3
-
100
-
-
77955071201
-
Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome.
-
Ross-Inta C, Omanska-Klusek A, Wong S et al. Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome. Biochem J 2010: 429: 545-552.
-
(2010)
Biochem J
, vol.429
, pp. 545-552
-
-
Ross-Inta, C.1
Omanska-Klusek, A.2
Wong, S.3
-
101
-
-
77649301567
-
Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration.
-
Chen Y, Tassone F, Berman RF et al. Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration. Hum Mol Genet 2010: 19: 196-208.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 196-208
-
-
Chen, Y.1
Tassone, F.2
Berman, R.F.3
-
102
-
-
79955698792
-
Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development.
-
Cunningham CL, Martinez Cerdeno V, Navarro E et al. Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development. Hum Mol Genet 2011: 20: 64-79.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 64-79
-
-
Cunningham, C.L.1
Martinez Cerdeno, V.2
Navarro, E.3
-
103
-
-
0041819618
-
Clinical features of boys with fragile X premutations and intermediate alleles.
-
Aziz M, Stathopulu E, Callias M et al. Clinical features of boys with fragile X premutations and intermediate alleles. Am J Med Genet 2003: 121: 119-127.
-
(2003)
Am J Med Genet
, vol.121
, pp. 119-127
-
-
Aziz, M.1
Stathopulu, E.2
Callias, M.3
-
104
-
-
33750283784
-
Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation.
-
Farzin F, Perry H, Hessl D et al. Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation. J Dev Behav Pediatr 2006: 27: S137-S144.
-
(2006)
J Dev Behav Pediatr
, vol.27
-
-
Farzin, F.1
Perry, H.2
Hessl, D.3
-
105
-
-
49449089705
-
Co-occurring conditions associated with FMR1 gene variations: findings from a national parent survey.
-
Bailey DB Jr, Raspa M, Olmsted M et al. Co-occurring conditions associated with FMR1 gene variations: findings from a national parent survey. Am J Med Genet A 2008: 16: 2060-2069.
-
(2008)
Am J Med Genet A
, vol.16
, pp. 2060-2069
-
-
Bailey, D.B.1
Raspa, M.2
Olmsted, M.3
-
107
-
-
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-Hirji 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-Hirji, R.2
Chitayat, D.3
-
108
-
-
0034481291
-
Premature ovarian failure and the FMR1 gene.
-
Murray A. Premature ovarian failure and the FMR1 gene. Semin Reprod Med 2000: 18: 59-66.
-
(2000)
Semin Reprod Med
, vol.18
, pp. 59-66
-
-
Murray, A.1
-
109
-
-
14044268841
-
Association of FMR1 repeat size with ovarian dysfunction.
-
Sullivan AK, Marcus M, Epstein MP et al. Association of FMR1 repeat size with ovarian dysfunction. Hum Reprod 2005: 20: 402-412.
-
(2005)
Hum Reprod
, vol.20
, pp. 402-412
-
-
Sullivan, A.K.1
Marcus, M.2
Epstein, M.P.3
-
110
-
-
34547813683
-
Examination of reproductive aging milestones among women who carry the FMR1 premutation.
-
Allen EG, Sullivan AK, Marcus M et al. Examination of reproductive aging milestones among women who carry the FMR1 premutation. Hum Reprod 2007: 22: 2142-2152.
-
(2007)
Hum Reprod
, vol.22
, pp. 2142-2152
-
-
Allen, E.G.1
Sullivan, A.K.2
Marcus, M.3
-
112
-
-
0036591683
-
The fragile X premutation: into the phenotypic fold.
-
Hagerman RJ, Hagerman PJ. The fragile X premutation: into the phenotypic fold. Curr Opin Genet Dev 2002: 12: 278-283.
-
(2002)
Curr Opin Genet Dev
, vol.12
, pp. 278-283
-
-
Hagerman, R.J.1
Hagerman, P.J.2
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