-
2
-
-
0036948994
-
X-linked mental retardation: Vanishing boundaries between non-specific (MRX) and syndromic (MRXS) forms
-
Frints SG, Froyen G, Marynen P, Fryns JP: X-linked mental retardation: vanishing boundaries between non-specific (MRX) and syndromic (MRXS) forms. Clin Genet 2002; 62: 423-432.
-
(2002)
Clin Genet
, vol.62
, pp. 423-432
-
-
Frints, S.G.1
Froyen, G.2
Marynen, P.3
Fryns, J.P.4
-
3
-
-
0032872234
-
Breakthroughs in molecular and cellular mechanisms underlying X-linked mental retardation
-
Chelly J: Breakthroughs in molecular and cellular mechanisms underlying X-linked mental retardation. Hum Mol Genet 1999; 8: 1833-1838.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1833-1838
-
-
Chelly, J.1
-
4
-
-
0035464960
-
Monogenic causes of X-linked mental retardation
-
Chelly J, Mandel JL: Monogenic causes of X-linked mental retardation. Nat Rev Genet 2001; 2: 669-680.
-
(2001)
Nat Rev Genet
, vol.2
, pp. 669-680
-
-
Chelly, J.1
Mandel, J.L.2
-
6
-
-
2942587162
-
X-linked mental retardation (XLMR): From clinical conditions to cloned genes
-
Chiurazzi P, Tabolacci E, Neri G: X-linked mental retardation (XLMR): from clinical conditions to cloned genes. Crit Rev Clin Lab Sci 2004; 41: 117-158.
-
(2004)
Crit Rev Clin Lab Sci
, vol.41
, pp. 117-158
-
-
Chiurazzi, P.1
Tabolacci, E.2
Neri, G.3
-
8
-
-
0023640087
-
Review of recent epidemiological studies of mental retardation: Prevalence, associated disorders, and etiology
-
McLaren J, Bryson SE: Review of recent epidemiological studies of mental retardation: Prevalence, associated disorders, and etiology. Am J Ment Retard 1987; 92: 243-254.
-
(1987)
Am J Ment Retard
, vol.92
, pp. 243-254
-
-
McLaren, J.1
Bryson, S.E.2
-
9
-
-
0038392953
-
The use of telomere probes to investigate submicroscopic rearrangements associated with mental retardation
-
Flint J, Knight S: The use of telomere probes to investigate submicroscopic rearrangements associated with mental retardation. Curr Opin Genet Dev 2003; 13: 310-316.
-
(2003)
Curr Opin Genet Dev
, vol.13
, pp. 310-316
-
-
Flint, J.1
Knight, S.2
-
10
-
-
0019193212
-
Nonspecific X-linked mental retardation II: The frequency in British Columbia
-
Herbst DS, Miller JR: Nonspecific X-liTked mental retardation II: the frequency in British Columbia. Am J Med Genet 1980; 7: 461-469.
-
(1980)
Am J Med Genet
, vol.7
, pp. 461-469
-
-
Herbst, D.S.1
Miller, J.R.2
-
11
-
-
0020536179
-
The diagnosis and frequency of X-linked conditions in a cohort of moderately retarded males with affected brothers
-
Fishburn J, Turner G, Daniel A, Brookwell R: The diagnosis and frequency of X-linked conditions in a cohort of moderately retarded males with affected brothers. Am J Med Genet 1983; 14: 713-724.
-
(1983)
Am J Med Genet
, vol.14
, pp. 713-724
-
-
Fishburn, J.1
Turner, G.2
Daniel, A.3
Brookwell, R.4
-
12
-
-
4644244222
-
Monogenic X-linked mental retardation: Is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations
-
Mandel JL, Chelly J: Monogenic X-Iinked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations. Eur J Hum Genet 2004; 12: 689-693.
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 689-693
-
-
Mandel, J.L.1
Chelly, J.2
-
13
-
-
33744500567
-
Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis
-
Poirier K, Lacombe D, Gilbert-Dussardier B et al: Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis. Neurogenetics 2005; 6: 1-8.
-
(2005)
Neurogenetics
, vol.6
, pp. 1-8
-
-
Poirier, K.1
Lacombe, D.2
Gilbert-Dussardier, B.3
-
14
-
-
0033552424
-
Subtle chromosomal rearrangements in children with unexplained mental retardation
-
Knight SJ, Regan R, Nicod A et al: Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 1999; 354: 1676-1681.
-
(1999)
Lancet
, vol.354
, pp. 1676-1681
-
-
Knight, S.J.1
Regan, R.2
Nicod, A.3
-
15
-
-
0028798545
-
The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation
-
Flint J, Wilkie AO, Buckle VJ, Winter RM, Holland AJ, McDermid HE: The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nat Genet 1995; 9: 132-140.
-
(1995)
Nat Genet
, vol.9
, pp. 132-140
-
-
Flint, J.1
Wilkie, A.O.2
Buckle, V.J.3
Winter, R.M.4
Holland, A.J.5
McDermid, H.E.6
-
16
-
-
20344381820
-
Subtelomeric rearrangements in the mentally retarded: A comparison of detection methods
-
Rooms L, Reyniers E, Kooy RF: Subtelomeric rearrangements in the mentally retarded: A comparison of detection methods. Hum Mutat 2005; 25: 513-524.
-
(2005)
Hum Mutat
, vol.25
, pp. 513-524
-
-
Rooms, L.1
Reyniers, E.2
Kooy, R.F.3
-
18
-
-
0035083998
-
Clinical studies on submicroscopic subtelomeric rearrangements: A checklist
-
de Vries BB, White SM, Knight SJ et al: Clinical studies on submicroscopic subtelomeric rearrangements: A checklist. J Med Genet 2001; 38: 145-150.
-
(2001)
J Med Genet
, vol.38
, pp. 145-150
-
-
de Vries, B.B.1
White, S.M.2
Knight, S.J.3
-
19
-
-
1642514697
-
Cryptic chromosomal rearrangement screening in 30 patients with mental retardation and dysmorphic features
-
Rodriguez-Revenga L, Badenas C, Sanchez A et al: Cryptic chromosomal rearrangement screening in 30 patients with mental retardation and dysmorphic features. Clin Genet 2004; 65: 17-23.
-
(2004)
Clin Genet
, vol.65
, pp. 17-23
-
-
Rodriguez-Revenga, L.1
Badenas, C.2
Sanchez, A.3
-
20
-
-
19944399746
-
Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)
-
Koolen DA, Nillesen WM, Versteeg MH et al: Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA). J Med Genet 2004; 41: 892-899.
-
(2004)
J Med Genet
, vol.41
, pp. 892-899
-
-
Koolen, D.A.1
Nillesen, W.M.2
Versteeg, M.H.3
-
21
-
-
1942438953
-
Subtelomeric rearrangements: Results from FISH studies in 84 families with idiopathic mental retardation
-
Bocian E, Helias-Rodzewicz Z, Suchenek K et al: Subtelomeric rearrangements: Results from FISH studies in 84 families with idiopathic mental retardation. Med Sci Monit 2004; 10: CR143-151.
-
(2004)
Med Sci Monit
, vol.10
-
-
Bocian, E.1
Helias-Rodzewicz, Z.2
Suchenek, K.3
-
22
-
-
23944503759
-
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males
-
Van Esch H, Bauters M, Ignatius J et al: Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am J Hum Genet 2005; 77: 442-453.
-
(2005)
Am J Hum Genet
, vol.77
, pp. 442-453
-
-
Van Esch, H.1
Bauters, M.2
Ignatius, J.3
-
23
-
-
9144240478
-
Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities
-
Vissers LE, de Vries BB, Osoegawa K et al: Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet 2003; 73: 1261-1270.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 1261-1270
-
-
Vissers, L.E.1
de Vries, B.B.2
Osoegawa, K.3
-
24
-
-
4444239112
-
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
-
Vissers LE, van Ravenswaaij CM, Admiraal R et al: Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 2004; 36: 955-957.
-
(2004)
Nat Genet
, vol.36
, pp. 955-957
-
-
Vissers, L.E.1
van Ravenswaaij, C.M.2
Admiraal, R.3
-
25
-
-
8444228597
-
Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome
-
Bi W, Saifi GM, Shaw CJ et al: Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome. Hum Genet 2004; 115: 515-524.
-
(2004)
Hum Genet
, vol.115
, pp. 515-524
-
-
Bi, W.1
Saifi, G.M.2
Shaw, C.J.3
-
27
-
-
0033997450
-
The impact of genomic imprinting for neurobehavioral and developmental disorders
-
Nicholls RD: The impact of genomic imprinting for neurobehavioral and developmental disorders. J Clin Invest 2000; 105: 413-418.
-
(2000)
J Clin Invest
, vol.105
, pp. 413-418
-
-
Nicholls, R.D.1
-
29
-
-
0029648026
-
Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: Estimated prevalence rate in a Danish county
-
Petersen MB, Brondum-Nielsen K, Hansen LK, Wulff K: Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: Estimated prevalence rate in a Danish county. Am J Med Genet 1995; 60: 261-262.
-
(1995)
Am J Med Genet
, vol.60
, pp. 261-262
-
-
Petersen, M.B.1
Brondum-Nielsen, K.2
Hansen, L.K.3
Wulff, K.4
-
31
-
-
0035777024
-
Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes
-
Nicholls RD, Knepper JL: Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes. Annu Rev Genomics Hum Genet 2001; 2: 153-175.
-
(2001)
Annu Rev Genomics Hum Genet
, vol.2
, pp. 153-175
-
-
Nicholls, R.D.1
Knepper, J.L.2
-
32
-
-
1642376040
-
Molecular and comparative genetics of mental retardation
-
Inlow JK, Restifo LL: Molecular and comparative genetics of mental retardation. Genetics 2004; 166: 835-881.
-
(2004)
Genetics
, vol.166
, pp. 835-881
-
-
Inlow, J.K.1
Restifo, L.L.2
-
33
-
-
0015336653
-
Theory of X-linkage of major intellectual traits
-
Lehrke R: Theory of X-linkage of major intellectual traits. Am J Ment Defic 1972; 76: 611-619.
-
(1972)
Am J Ment Defic
, vol.76
, pp. 611-619
-
-
Lehrke, R.1
-
34
-
-
0029786254
-
Intelligence and the X chromosome
-
Turner G: Intelligence and the X chromosome. Lancet 1996; 347: 1814-1815.
-
(1996)
Lancet
, vol.347
, pp. 1814-1815
-
-
Turner, G.1
-
35
-
-
0025832873
-
Genes for intelligence on the X chromosome
-
Turner G, Partington MW: Genes for intelligence on the X chromosome. J Med Genet 1991; 28: 429.
-
(1991)
J Med Genet
, vol.28
, pp. 429
-
-
Turner, G.1
Partington, M.W.2
-
36
-
-
17444421587
-
X-linked genes and mental functioning
-
(Spec. No. 1)
-
Skuse DH: X-linked genes and mental functioning. Hum Mol Genet 2005; 14 (Spec No. 1): R27-R32.
-
(2005)
Hum Mol Genet
, vol.14
-
-
Skuse, D.H.1
-
37
-
-
0035577350
-
A high density of X-linked genes for general cognitive ability: A run-away process shaping human evolution?
-
Zechner U, Wilda M, Kehrer-Sawatzki H, Vogel W, Fundele R, Hameister H: A high density of X-linked genes for general cognitive ability: A run-away process shaping human evolution? Trends Genet 2001; 17: 697-701.
-
(2001)
Trends Genet
, vol.17
, pp. 697-701
-
-
Zechner, U.1
Wilda, M.2
Kehrer-Sawatzki, H.3
Vogel, W.4
Fundele, R.5
Hameister, H.6
-
38
-
-
33644755463
-
Human disorders of cortical development - From past to present
-
in press
-
Francis F, Meyer G, Fallet C et al: Human disorders of cortical development - from past to present. Eur J Neurosci 2006; 23, in press.
-
(2006)
Eur J Neurosci
, vol.23
-
-
Francis, F.1
Meyer, G.2
Fallet, C.3
-
39
-
-
0038377518
-
IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis
-
Bahi N, Friocourt G, Carrie A et al: IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis. Hum Mol Genet 2003; 12: 1415-1425.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 1415-1425
-
-
Bahi, N.1
Friocourt, G.2
Carrie, A.3
-
40
-
-
17844372504
-
From mRNP trafficking to spine dysmorphogenesis: The roots of fragile X syndrome
-
Bagni C, Greenough WT: From mRNP trafficking to spine dysmorphogenesis: the roots of fragile X syndrome. Nat Rev Neurosci 2005; 6: 376-387.
-
(2005)
Nat Rev Neurosci
, vol.6
, pp. 376-387
-
-
Bagni, C.1
Greenough, W.T.2
-
41
-
-
23044503253
-
Deletion of FMR1 in Purkinje cells enhances parallel fiber LTD, enlarges spines, and attenuates cerebellar eyelid conditioning in fragile X syndrome
-
Koekkoek SK, Yamaguchi K, Milojkovic BA et al: Deletion of FMR1 in Purkinje cells enhances parallel fiber LTD, enlarges spines, and attenuates cerebellar eyelid conditioning in fragile X syndrome. Neuron 2005; 47: 339-352.
-
(2005)
Neuron
, vol.47
, pp. 339-352
-
-
Koekkoek, S.K.1
Yamaguchi, K.2
Milojkovic, B.A.3
-
42
-
-
0037523396
-
CYFIP/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein
-
Schenck A, Bardoni B, Langmann C, Harden N, Mandel JL, Giangrande A: CYFIP/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein. Neuron 2003; 38: 887-898.
-
(2003)
Neuron
, vol.38
, pp. 887-898
-
-
Schenck, A.1
Bardoni, B.2
Langmann, C.3
Harden, N.4
Mandel, J.L.5
Giangrande, A.6
-
43
-
-
0037523416
-
From fragile X mental retardation protein to Rac1 GTPase: New insights from Fly CYFIP
-
Billuart P, Chelly J: From fragile X mental retardation protein to Rac1 GTPase: New insights from Fly CYFIP. Neuron 2003; 38: 843-845.
-
(2003)
Neuron
, vol.38
, pp. 843-845
-
-
Billuart, P.1
Chelly, J.2
-
44
-
-
22244449230
-
Abnormal long-lasting synaptic plasticity and cognition in mice lacking the mental retardation gene Pak3
-
Meng J, Meng Y, Hanna A, Janus C, Jia Z: Abnormal long-lasting synaptic plasticity and cognition in mice lacking the mental retardation gene Pak3. J Neurosci 2005; 25: 6641-6650.
-
(2005)
J Neurosci
, vol.25
, pp. 6641-6650
-
-
Meng, J.1
Meng, Y.2
Hanna, A.3
Janus, C.4
Jia, Z.5
-
45
-
-
10044235009
-
The mental retardation protein PAK3 contributes to synapse formation and plasticity in hippocampus
-
Boda B, Alberi S, Nikonenko I et al: The mental retardation protein PAK3 contributes to synapse formation and plasticity in hippocampus. J Neurosci 2004; 24: 10816-10825.
-
(2004)
J Neurosci
, vol.24
, pp. 10816-10825
-
-
Boda, B.1
Alberi, S.2
Nikonenko, I.3
-
46
-
-
1842455769
-
The X-linked mental retardation protein oligophrenin-1 is required for dendritic spine morphogenesis
-
Govek EE, Newey SE, Akerman CJ, Cross JR, Van der Veken L, Van Aelst L: The X-linked mental retardation protein oligophrenin-1 is required for dendritic spine morphogenesis. Nat Neurosci 2004; 7: 364-372.
-
(2004)
Nat Neurosci
, vol.7
, pp. 364-372
-
-
Govek, E.E.1
Newey, S.E.2
Akerman, C.J.3
Cross, J.R.4
Van der Veken, L.5
Van Aelst, L.6
-
47
-
-
0036543312
-
Rho proteins, mental retardation and the cellular basis of cognition
-
Ramakers GJ: Rho proteins, mental retardation and the cellular basis of cognition. Trends Neurosci 2002; 25: 191-199.
-
(2002)
Trends Neurosci
, vol.25
, pp. 191-199
-
-
Ramakers, G.J.1
-
48
-
-
0037656313
-
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
-
Jamain S, Quach H, Betancur C et al: Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet 2003; 34: 27-29.
-
(2003)
Nat Genet
, vol.34
, pp. 27-29
-
-
Jamain, S.1
Quach, H.2
Betancur, C.3
-
49
-
-
12144291350
-
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family
-
Laumonnier F, Bonnet-Brilhault F, Gomot M et al: X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am J Hum Genet 2004; 74: 552-557.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 552-557
-
-
Laumonnier, F.1
Bonnet-Brilhault, F.2
Gomot, M.3
-
50
-
-
3242696203
-
Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation
-
Tarpey P, Parnau J, Blow M et al: Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. Am J Hum Genet 2004; 75: 318-324.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 318-324
-
-
Tarpey, P.1
Parnau, J.2
Blow, M.3
-
51
-
-
0032819848
-
A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation
-
Carrie A, Jun L, Bienvenu T et al: A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation. Nat Genet 1999; 23: 25-31.
-
(1999)
Nat Genet
, vol.23
, pp. 25-31
-
-
Carrie, A.1
Jun, L.2
Bienvenu, T.3
-
52
-
-
17344369362
-
Mutations in GDI1 are responsible for X-linked non-specific mental retardation
-
D'Adamo P, Menegon A, Lo Nigro C et al: Mutations in GDI1 are responsible for X-linked non-specific mental retardation. Nat Genet 1998; 19: 134-139.
-
(1998)
Nat Genet
, vol.19
, pp. 134-139
-
-
D'Adamo, P.1
Menegon, A.2
Lo Nigro, C.3
-
53
-
-
7344219887
-
Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor
-
Bienvenu T, des Portes V, Saint Martin A et al: Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor. Hum Mol Genet 1998; 7: 1311-1315.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1311-1315
-
-
Bienvenu, T.1
des Portes, V.2
Saint Martin, A.3
-
54
-
-
0037743572
-
Neurexin mediates the assembly of presynaptic terminals
-
Dean C, Scholl FG, Choih J et al: Neurexin mediates the assembly of presynaptic terminals. Nat Neurosci 2003; 6: 708-716.
-
(2003)
Nat Neurosci
, vol.6
, pp. 708-716
-
-
Dean, C.1
Scholl, F.G.2
Choih, J.3
-
55
-
-
0034625250
-
Neuroligin expressed in nonneuronal cells triggers presynaptic development in contacting axons
-
Scheiffele P, Fan J, Choih J, Fetter R, Serafini T: Neuroligin expressed in nonneuronal cells triggers presynaptic development in contacting axons. Cell 2000; 101: 657-669.
-
(2000)
Cell
, vol.101
, pp. 657-669
-
-
Scheiffele, P.1
Fan, J.2
Choih, J.3
Fetter, R.4
Serafini, T.5
-
56
-
-
0030980279
-
The small GTP-binding protein Rab3A regulates a late step in synaptic vesicle fusion
-
Geppert M, Goda Y, Stevens CF, Sudhof TC: The small GTP-binding protein Rab3A regulates a late step in synaptic vesicle fusion. Nature 1997; 387: 810-814.
-
(1997)
Nature
, vol.387
, pp. 810-814
-
-
Geppert, M.1
Goda, Y.2
Stevens, C.F.3
Sudhof, T.C.4
-
57
-
-
12944333135
-
Role of rab GDP dissociation inhibitor alpha in regulating plasticity of hippocampul neurotransmission
-
Ishizaki H, Miyoshi J, Kamiya H et al: Role of rab GDP dissociation inhibitor alpha in regulating plasticity of hippocampul neurotransmission. Proc Natl Acad Sci USA 2000; 97: 11587-11592.
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 11587-11592
-
-
Ishizaki, H.1
Miyoshi, J.2
Kamiya, H.3
-
58
-
-
0036798191
-
Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice
-
D'Adamo P, Welzl H, Papadimitriou S et al: Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice. Hum Mol Genet 2002; 11: 2567-2580.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2567-2580
-
-
D'Adamo, P.1
Welzl, H.2
Papadimitriou, S.3
-
59
-
-
0035798238
-
The molecular biology of memory storage: A dialogue between genes and synapses
-
Kandel ER: The molecular biology ofAmemory storage: a dialogue between genes and synapses. Science 2001; 294: 1030-1038.
-
(2001)
Science
, vol.294
, pp. 1030-1038
-
-
Kandel, E.R.1
-
60
-
-
0037203821
-
Mechanism for the learning deficits in a mouse model of neurofibromatosis type 1
-
Costa RM, Federov NB, Kogan JH et al: Mechanism for the learning deficits in a mouse model of neurofibromatosis type 1. Nature 2002; 415: 526-530.
-
(2002)
Nature
, vol.415
, pp. 526-530
-
-
Costa, R.M.1
Federov, N.B.2
Kogan, J.H.3
-
61
-
-
0035074432
-
Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1
-
Costa RM, Yang T, Huynh DP et al: Learning deficits, but normal development and tumor predisposition, in mice lacking exon 23a of Nf1. Nat Genet 2001; 27: 399-405.
-
(2001)
Nat Genet
, vol.27
, pp. 399-405
-
-
Costa, R.M.1
Yang, T.2
Huynh, D.P.3
-
62
-
-
0029832136
-
Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome
-
Trivier E, De Cesare D, Jacquot S et al: Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome. Nature 1996; 384: 567-570.
-
(1996)
Nature
, vol.384
, pp. 567-570
-
-
Trivier, E.1
De Cesare, D.2
Jacquot, S.3
-
63
-
-
0032514734
-
Rsk-2 activity is necessary for epidermal growth factor-induced phosphorylation of CREB protein and transcription of c-fos gene
-
De Cesare D, Jacquot S, Hanauer A, Sassone-Corsi P: Rsk-2 activity is necessary for epidermal growth factor-induced phosphorylation of CREB protein and transcription of c-fos gene. Proc Natl Acad Sci USA 1998; 95: 12202-12207.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 12202-12207
-
-
De Cesare, D.1
Jacquot, S.2
Hanauer, A.3
Sassone-Corsi, P.4
-
64
-
-
0035936640
-
Cognitive impairment in Coffin-Lowry syndrome correlates with reduced RSK2 activation
-
Harum KH, Alemi L, Johnston MV: Cognitive impairment in Coffin-Lowry syndrome correlates with reduced RSK2 activation. Neurology 2001; 56: 207-214.
-
(2001)
Neurology
, vol.56
, pp. 207-214
-
-
Harum, K.H.1
Alemi, L.2
Johnston, M.V.3
-
65
-
-
0029022770
-
Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP
-
Petrij F, Giles RH, Dauwerse HG et al: Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature 1995; 376: 348-351.
-
(1995)
Nature
, vol.376
, pp. 348-351
-
-
Petrij, F.1
Giles, R.H.2
Dauwerse, H.G.3
-
66
-
-
0035873614
-
Increased histone acetyltransferase and lysine acetyltransferase activity and biphasic activation of the ERK/RSK cascade in insular cortex during novel taste learning
-
Swank MW, Sweatt JD: Increased histone acetyltransferase and lysine acetyltransferase activity and biphasic activation of the ERK/RSK cascade in insular cortex during novel taste learning. J Neurosci 2001; 21: 3383-3391.
-
(2001)
J Neurosci
, vol.21
, pp. 3383-3391
-
-
Swank, M.W.1
Sweatt, J.D.2
-
67
-
-
17444440488
-
Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes
-
Amir RE, Van den Veyver IB, Schultz R et al: Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. Ann Neurol 2000; 47: 670-679.
-
(2000)
Ann Neurol
, vol.47
, pp. 670-679
-
-
Amir, R.E.1
Van den Veyver, I.B.2
Schultz, R.3
-
68
-
-
0034701999
-
MECP2 mutations account for most cases of typical forms of Rett syndrome
-
Bienvenu T, Carrie A, de Roux N et al: MECP2 mutations account for most cases of typical forms of Rett syndrome. Hum Mol Genet 2000; 9: 1377-1384.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1377-1384
-
-
Bienvenu, T.1
Carrie, A.2
de Roux, N.3
-
69
-
-
0033804436
-
A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males
-
Meloni I, Bruttini M, Longo I et al: A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. Am J Hum Genet 2000; 67: 982-985.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 982-985
-
-
Meloni, I.1
Bruttini, M.2
Longo, I.3
-
70
-
-
0035870846
-
MECP2 is highly mutated in X-linked mental retardation
-
Couvert P, Bienvenu T, Aquaviva C et al: MECP2 is highly mutated in X-linked mental retardation. Hum Mol Genet 2001; 10: 941-946.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 941-946
-
-
Couvert, P.1
Bienvenu, T.2
Aquaviva, C.3
-
71
-
-
8844252981
-
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation
-
Tao J, Van Esch H, Hagedorn-Greiwe M et al: Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Am J Hum Genet 2004; 75: 1149-1154.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 1149-1154
-
-
Tao, J.1
Van Esch, H.2
Hagedorn-Greiwe, M.3
-
72
-
-
8844269073
-
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation
-
Weaving LS, Christodoulou J, Williamson SL et al: Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet 2004; 75: 1079-1093.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 1079-1093
-
-
Weaving, L.S.1
Christodoulou, J.2
Williamson, S.L.3
-
73
-
-
26444495179
-
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome
-
Mari F, Azimonti S, Bertani I et al: CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. Hum Mol Genet 2005; 14: 1935-1946.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 1935-1946
-
-
Mari, F.1
Azimonti, S.2
Bertani, I.3
-
74
-
-
0141925713
-
DNA methylation and Rett syndrome
-
(Spec. No. 2)
-
Kriaucionis S, Bird A: DNA methylation and Rett syndrome. Hum Mol Genet 2003; 12 (Spec No. 2): R221-R227.
-
(2003)
Hum Mol Genet
, vol.12
-
-
Kriaucionis, S.1
Bird, A.2
-
75
-
-
17444375365
-
MeCP2 in neurons: Closing in on the causes of Rett syndrome
-
(Spec. No. 1)
-
Caballero IMC Hendrich B: MeCP2 in neurons: closing in on the causes of Rett syndrome. Hum Mol Genet 2005; 14 (Spec No. 1): R19-R26.
-
(2005)
Hum Mol Genet
, vol.14
-
-
Caballero, I.M.1
Hendrich, B.2
-
76
-
-
26444516160
-
Up-regulation of glucocorticoid-regulated genes in a mouse model of Rett syndrome
-
Nuber UA, Kriaucionis S, Roloff TC et al: Up-regulation of glucocorticoid-regulated genes in a mouse model of Rett syndrome. Hum Mol Genet 2005; 14: 2247-2256.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 2247-2256
-
-
Nuber, U.A.1
Kriaucionis, S.2
Roloff, T.C.3
-
77
-
-
0035093830
-
Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice
-
Chen RZ, Akbarian S, Tudor M, Jaenisch R: Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice. Nat Genet 2001; 27: 327-331.
-
(2001)
Nat Genet
, vol.27
, pp. 327-331
-
-
Chen, R.Z.1
Akbarian, S.2
Tudor, M.3
Jaenisch, R.4
-
78
-
-
0035094767
-
A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome
-
Guy J, Hendrich B, Holmes M, Martin JE, Bird A: A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nat Genet 2001; 27: 322-326.
-
(2001)
Nat Genet
, vol.27
, pp. 322-326
-
-
Guy, J.1
Hendrich, B.2
Holmes, M.3
Martin, J.E.4
Bird, A.5
-
79
-
-
7244243971
-
MECP2 is progressively expressed in postmigratory neurons and is involved in neuronal maturation rather than cell fate decisions
-
Kishi N, Macklis JD: MECP2 is progressively expressed in postmigratory neurons and is involved in neuronal maturation rather than cell fate decisions. Mol Cell Neurosci 2004; 27: 306-321.
-
(2004)
Mol Cell Neurosci
, vol.27
, pp. 306-321
-
-
Kishi, N.1
Macklis, J.D.2
-
80
-
-
4444333589
-
The transcriptional repressor Mecp2 regulates terminal neuronal differentiation
-
Matarazzo V, Cohen D, Palmer AM et al: The transcriptional repressor Mecp2 regulates terminal neuronal differentiation. Mol Cell Neurosci 2004; 27: 44-58.
-
(2004)
Mol Cell Neurosci
, vol.27
, pp. 44-58
-
-
Matarazzo, V.1
Cohen, D.2
Palmer, A.M.3
-
81
-
-
0032198366
-
The MAPK cascade is required for mammalian associative learning
-
Atkins CM, Selcher JC, Petraitis JJ, Trzaskos JM, Sweatt JD: The MAPK cascade is required for mammalian associative learning. Nat Neurosci 1998; 1: 602-609.
-
(1998)
Nat Neurosci
, vol.1
, pp. 602-609
-
-
Atkins, C.M.1
Selcher, J.C.2
Petraitis, J.J.3
Trzaskos, J.M.4
Sweatt, J.D.5
-
82
-
-
0035257725
-
Teaching mathematics to students with mild-to-moderate mental retardation: A review of the literature
-
Butler FM, Miller SP, Lee KH, Pierce T: Teaching mathematics to students with mild-to-moderate mental retardation: A review of the literature. Ment Retard 2001; 39: 20-31.
-
(2001)
Ment Retard
, vol.39
, pp. 20-31
-
-
Butler, F.M.1
Miller, S.P.2
Lee, K.H.3
Pierce, T.4
-
83
-
-
0035496395
-
A longitudinal study of active treatment of adaptive skills of individuals with profound mental retardation
-
Bat-haee MA: A longitudinal study of active treatment of adaptive skills of individuals with profound mental retardation. Psychol Rep 2001; 89: 345-354.
-
(2001)
Psychol Rep
, vol.89
, pp. 345-354
-
-
Bat-Haee, M.A.1
-
84
-
-
0036033616
-
Long-term consequences of congenital hypothyroidism in the era of screening programmes
-
Gruters A, Jenner A, Krude H: Long-term consequences of congenital hypothyroidism in the era of screening programmes. Best Pract Res Clin Endocrinol Metab 2002; 16: 369-382.
-
(2002)
Best Pract Res Clin Endocrinol Metab
, vol.16
, pp. 369-382
-
-
Gruters, A.1
Jenner, A.2
Krude, H.3
-
85
-
-
0027229686
-
Nutrition in the management of inborn errors of metabolism
-
Dashman T, Sansaricq C: Nutrition in the management of inborn errors of metabolism. Clin Lab Med 1993; 13: 407-432.
-
(1993)
Clin Lab Med
, vol.13
, pp. 407-432
-
-
Dashman, T.1
Sansaricq, C.2
-
86
-
-
0038037241
-
Exploring new approaches to the treatment of asthma: Potential roles for lipoxins and aspirin-triggered lipid mediators
-
Levy BD, Serhan CN: Exploring new approaches to the treatment of asthma: potential roles for lipoxins and aspirin-triggered lipid mediators. Drugs Today (Barc) 2003; 39: 373-384.
-
(2003)
Drugs Today (Barc)
, vol.39
, pp. 373-384
-
-
Levy, B.D.1
Serhan, C.N.2
-
87
-
-
0031457381
-
Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: Diagnostic tools for a new inborn error of metabolism
-
Schulze A, Hess T, Wevers R et al: Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: Diagnostic tools for a new inborn error of metabolism. J Pediatr 1997; 131: 626-631.
-
(1997)
J Pediatr
, vol.131
, pp. 626-631
-
-
Schulze, A.1
Hess, T.2
Wevers, R.3
-
88
-
-
0035694594
-
Improving treatment of guanidinoacetate methyltransferase deficiency: Reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation
-
Schulze A, Ebinger F, Rating D, Mayatepek E: Improving treatment of guanidinoacetate methyltransferase deficiency: Reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation. Mol Genet Metab 2001; 74: 413-419.
-
(2001)
Mol Genet Metab
, vol.74
, pp. 413-419
-
-
Schulze, A.1
Ebinger, F.2
Rating, D.3
Mayatepek, E.4
-
89
-
-
2942705826
-
Chromatin acetylation, memory, and LTP are impaired in CBP+/- mice: A model for the cognitive deficit in Rubinstein-Taybi syndrome and its amelioration
-
Alarcon JM, Malleret G, Touzani K et al: Chromatin acetylation, memory, and LTP are impaired in CBP+/- mice: A model for the cognitive deficit in Rubinstein-Taybi syndrome and its amelioration. Neuron 2004; 42: 947-959.
-
(2004)
Neuron
, vol.42
, pp. 947-959
-
-
Alarcon, J.M.1
Malleret, G.2
Touzani, K.3
-
90
-
-
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
|