-
1
-
-
0032830639
-
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
-
R.E. Amir, I.B. Van den Veyver, M. Wan, C.Q. Tran, U. Francke and H.Y. Zoghbi, Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2, Nat Genet 23 (1999), 185-188.
-
(1999)
Nat Genet
, vol.23
, pp. 185-188
-
-
Amir, R.E.1
Van den Veyver, I.B.2
Wan, M.3
Tran, C.Q.4
Francke, U.5
Zoghbi, H.Y.6
-
2
-
-
0034812349
-
A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA->AAUGAA) leads to the IPEX syndrome
-
C.L. Bennett, M.E. Brunkow, F. Ramsdell, K.C. O'Briant, Q. Zhu, R.L. Fuleihan, A.O. Shigeoka, H.D. Ochs and P.F. Chance, A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA->AAUGAA) leads to the IPEX syndrome, Immunogenetics 53 (2001), 435-439.
-
(2001)
Immunogenetics
, vol.53
, pp. 435-439
-
-
Bennett, C.L.1
Brunkow, M.E.2
Ramsdell, F.3
O'Briant, K.C.4
Zhu, Q.5
Fuleihan, R.L.6
Shigeoka, A.O.7
Ochs, H.D.8
Chance, P.F.9
-
3
-
-
0035167967
-
-
C.L. Bennett, J. Christie, F. Ramsdell, M.E. Brunkow, P.J. Ferguson, L. Whitesell, T.E. Kelly, F.T. Saulsbury, P.F. Chance and H.D. Ochs, The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3, Nat Genet 27 (2001), 20-21.
-
C.L. Bennett, J. Christie, F. Ramsdell, M.E. Brunkow, P.J. Ferguson, L. Whitesell, T.E. Kelly, F.T. Saulsbury, P.F. Chance and H.D. Ochs, The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3, Nat Genet 27 (2001), 20-21.
-
-
-
-
4
-
-
0035129277
-
A detailed analysis of the MECP2 gene: Prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients
-
V. Bourdon, C. Philippe, O. Labrune, D. Amsallem, C. Arnould and P. Jonveaux, A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients, Hum Genet 108 (2001), 43-50.
-
(2001)
Hum Genet
, vol.108
, pp. 43-50
-
-
Bourdon, V.1
Philippe, C.2
Labrune, O.3
Amsallem, D.4
Arnould, C.5
Jonveaux, P.6
-
5
-
-
24144483438
-
the synaptic consolidation hypothesis
-
BDNF function in adult synaptic plasticity
-
C.R. Bramham and E. Messaoudi, BDNF function in adult synaptic plasticity: the synaptic consolidation hypothesis, Prog Neurobiol 76 (2005), 99-125.
-
(2005)
Prog Neurobiol
, vol.76
, pp. 99-125
-
-
Bramham, C.R.1
Messaoudi, E.2
-
6
-
-
33745728414
-
Asystematic analysis of disease-associated variants in the 3′ regulatory regions of human protein-coding genes I: General principles and overview
-
J.M. Chen, C. Ferec and D.N. Cooper, Asystematic analysis of disease-associated variants in the 3′ regulatory regions of human protein-coding genes I: general principles and overview, Hum Genet 120 (2006), 1-21.
-
(2006)
Hum Genet
, vol.120
, pp. 1-21
-
-
Chen, J.M.1
Ferec, C.2
Cooper, D.N.3
-
7
-
-
0034101197
-
A molecular 'hotspot' for pathology?
-
The 3′ untranslated region of messenger RNA
-
B. Conne, A. Stutz and J.D. Vassalli, The 3′ untranslated region of messenger RNA: A molecular 'hotspot' for pathology? Nat Med 6 (2000), 637-641.
-
(2000)
Nat Med
, vol.6
, pp. 637-641
-
-
Conne, B.1
Stutz, A.2
Vassalli, J.D.3
-
8
-
-
34250849699
-
MECP2 coding sequence and 3′UTR variation in 172 unrelated autistic patients
-
A.M. Coutinho, G. Oliveira, C. Katz, J. Feng, J. Yan, C. Yang, C. Marques, A. Ataide, T.S. Miguel, L. Borges, J. Almeida, C. Correia, A. Currais, C. Bento, L. Mota-Vieira, T. Temudo, M. Santos, P. Maciel, S.S. Sommer and A.M. Vicente, MECP2 coding sequence and 3′UTR variation in 172 unrelated autistic patients, Am J Med Genet B Neuropsychiatr Genet 144 (2007), 475-483.
-
(2007)
Am J Med Genet B Neuropsychiatr Genet
, vol.144
, pp. 475-483
-
-
Coutinho, A.M.1
Oliveira, G.2
Katz, C.3
Feng, J.4
Yan, J.5
Yang, C.6
Marques, C.7
Ataide, A.8
Miguel, T.S.9
Borges, L.10
Almeida, J.11
Correia, C.12
Currais, A.13
Bento, C.14
Mota-Vieira, L.15
Temudo, T.16
Santos, M.17
Maciel, P.18
Sommer, S.S.19
Vicente, A.M.20
more..
-
9
-
-
0032776138
-
A complex pattern of evolutionary conservation and alternative polyadenylation within the long 3″-untranslated region of the methyl-CpG-binding protein 2 gene (MeCP2) suggests a regulatory role in gene expression
-
J.F. Coy, Z. Sedlacek, D. Bachner, H. Delius and A. Poustka, A complex pattern of evolutionary conservation and alternative polyadenylation within the long 3″-untranslated region of the methyl-CpG-binding protein 2 gene (MeCP2) suggests a regulatory role in gene expression, Hum Mol Genet 8 (1999), 1253-1262.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1253-1262
-
-
Coy, J.F.1
Sedlacek, Z.2
Bachner, D.3
Delius, H.4
Poustka, A.5
-
10
-
-
0030188404
-
Isolation, physical mapping, and northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2
-
M. D'Esposito, N.A. Quaderi, A. Ciccodicola, P. Bruni, T. Esposito, M. D'Urso and S.D. Brown, Isolation, physical mapping, and northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2, Mamm Genome 7 (1996), 533-535.
-
(1996)
Mamm Genome
, vol.7
, pp. 533-535
-
-
D'Esposito, M.1
Quaderi, N.A.2
Ciccodicola, A.3
Bruni, P.4
Esposito, T.5
D'Urso, M.6
Brown, S.D.7
-
11
-
-
0037047644
-
Predictive identification of exonic splicing enhancers in human genes
-
W.G. Fairbrother, R.F. Yeh, P.A. Sharp and C.B. Burge, Predictive identification of exonic splicing enhancers in human genes, Science 297 (2002), 1007-1013.
-
(2002)
Science
, vol.297
, pp. 1007-1013
-
-
Fairbrother, W.G.1
Yeh, R.F.2
Sharp, P.A.3
Burge, C.B.4
-
12
-
-
0026598119
-
An unstable triplet repeat in a gene related to myotonic muscular dystrophy
-
Y.H. Fu, A. Pizzuti, R.G. Fenwick, Jr., J. King, S. Rajnarayan, P.W. Dunne, J. Dubel, G.A. Nasser, T. Ashizawa, P. de Jong et al., An unstable triplet repeat in a gene related to myotonic muscular dystrophy, Science 255 (1992), 1256-1258.
-
(1992)
Science
, vol.255
, pp. 1256-1258
-
-
Fu, Y.H.1
Pizzuti, A.2
Fenwick Jr., R.G.3
King, J.4
Rajnarayan, S.5
Dunne, P.W.6
Dubel, J.7
Nasser, G.A.8
Ashizawa, T.9
de Jong, P.10
-
13
-
-
33745207758
-
Comparative analysis identifies exonic splicing regulatory sequences - The complex definition of enhancers and silencers
-
A. Goren, O. Ram, M. Amit, H. Keren, G. Lev-Maor, I. Vig, T. Pupko and G. Ast, Comparative analysis identifies exonic splicing regulatory sequences - The complex definition of enhancers and silencers, Mol Cell 22 (2006), 769-781.
-
(2006)
Mol Cell
, vol.22
, pp. 769-781
-
-
Goren, A.1
Ram, O.2
Amit, M.3
Keren, H.4
Lev-Maor, G.5
Vig, I.6
Pupko, T.7
Ast, G.8
-
14
-
-
20144387483
-
Nogo CAA 3′UTR Insertion polymorphism is not associated with Schizophrenia nor with bipolar disorder
-
S.P. Gregorio, F.B. Mury, E.B. Ojopi, P.C. Sallet, D.H. Moreno, J. Yacubian, H. Tavares, F.R. Santos, W.F. Gattaz and E. Dias-Neto, Nogo CAA 3′UTR Insertion polymorphism is not associated with Schizophrenia nor with bipolar disorder, Schizophr Res 75 (2005), 5-9.
-
(2005)
Schizophr Res
, vol.75
, pp. 5-9
-
-
Gregorio, S.P.1
Mury, F.B.2
Ojopi, E.B.3
Sallet, P.C.4
Moreno, D.H.5
Yacubian, J.6
Tavares, H.7
Santos, F.R.8
Gattaz, W.F.9
Dias-Neto, E.10
-
15
-
-
0020507697
-
A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases
-
B. Hagberg, J. Aicardi, K. Dias and O. Ramos, A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases, Ann Neurol 14 (1983), 471-479.
-
(1983)
Ann Neurol
, vol.14
, pp. 471-479
-
-
Hagberg, B.1
Aicardi, J.2
Dias, K.3
Ramos, O.4
-
16
-
-
0037002625
-
An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001, Eur
-
B. Hagberg, F. Hanefeld, A. Percy and O. Skjeldal, An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001, Eur J Paediatr Neurol 6 (2002), 293-297.
-
(2002)
J Paediatr Neurol
, vol.6
, pp. 293-297
-
-
Hagberg, B.1
Hanefeld, F.2
Percy, A.3
Skjeldal, O.4
-
17
-
-
0032723417
-
Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD)
-
E. Kondo-Iida, K. Kobayashi, M. Watanabe, J. Sasaki, T. Kumagai, H. Koide, K. Saito, M. Osawa, Y. Nakamura and T. Toda, Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD), Hum Mol Genet 8 (1999), 2303-2309.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 2303-2309
-
-
Kondo-Iida, E.1
Kobayashi, K.2
Watanabe, M.3
Sasaki, J.4
Kumagai, T.5
Koide, H.6
Saito, K.7
Osawa, M.8
Nakamura, Y.9
Toda, T.10
-
18
-
-
0032915812
-
Detection of virtually all mutations-SSCP (DOVAM-S): A rapid method for mutation scanning with virtually 100% sensitivity
-
936-938
-
Q. Liu, J. Feng, C. Buzin, C. Wen, G. Nozari, A. Mengos, V. Nguyen, J. Liu, L. Crawford, F.K. Fujimura and S.S. Sommer, Detection of virtually all mutations-SSCP (DOVAM-S): a rapid method for mutation scanning with virtually 100% sensitivity, Biotechniques 26 (1999), 932, 936-938, 940-932.
-
(1999)
Biotechniques
, vol.26
, Issue.932
, pp. 940-932
-
-
Liu, Q.1
Feng, J.2
Buzin, C.3
Wen, C.4
Nozari, G.5
Mengos, A.6
Nguyen, V.7
Liu, J.8
Crawford, L.9
Fujimura, F.K.10
Sommer, S.S.11
-
19
-
-
0035196477
-
Rett syndrome: Clinical correlates of the newly discovered gene
-
A.K. Percy, Rett syndrome: clinical correlates of the newly discovered gene, Brain Dev 23(Suppl 1) (2001), S202-S205.
-
(2001)
Brain Dev
, vol.23
, Issue.SUPPL. 1
-
-
Percy, A.K.1
-
20
-
-
2342461060
-
Myotonic dystrophy: RNA pathogenesis comes into focus
-
L.P. Ranum and J.W. Day, Myotonic dystrophy: RNA pathogenesis comes into focus, Am J Hum Genet 74 (2004), 793-804.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 793-804
-
-
Ranum, L.P.1
Day, J.W.2
-
21
-
-
0034007933
-
Comparative sequence analysis of the MECP2-locus in human and mouse reveals new transcribed regions
-
K. Reichwald, J. Thiesen, T. Wiehe, J. Weitzel, W.A. Poustka, A. Rosenthal, M. Platzer, W.H. Stratling and P. Kioschis, Comparative sequence analysis of the MECP2-locus in human and mouse reveals new transcribed regions, Mamm Genome 11 (2000), 182-190.
-
(2000)
Mamm Genome
, vol.11
, pp. 182-190
-
-
Reichwald, K.1
Thiesen, J.2
Wiehe, T.3
Weitzel, J.4
Poustka, W.A.5
Rosenthal, A.6
Platzer, M.7
Stratling, W.H.8
Kioschis, P.9
-
22
-
-
33646876969
-
Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR)
-
J. Shi, A. Shibayama, Q. Liu, V.Q. Nguyen, J. Feng, M. Santos, T. Temudo, P. Maciel and S.S. Sommer, Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR), Hum Mutat 25 (2005), 505.
-
(2005)
Hum Mutat
, vol.25
, pp. 505
-
-
Shi, J.1
Shibayama, A.2
Liu, Q.3
Nguyen, V.Q.4
Feng, J.5
Santos, M.6
Temudo, T.7
Maciel, P.8
Sommer, S.S.9
-
23
-
-
3042847437
-
MECP2 structural and 3′-UTR variants in schizophrenia, autism and other psychiatric diseases: A possible association with autism
-
A. Shibayama, E.H. Cook, Jr., J. Feng, C. Glanzmann, J. Yan, N. Craddock, I.R. Jones, D. Goldman, L.L. Heston and S.S. Sommer, MECP2 structural and 3′-UTR variants in schizophrenia, autism and other psychiatric diseases: a possible association with autism, Am J Med Genet B Neuropsychiatr Genet 128 (2004), 50-53.
-
(2004)
Am J Med Genet B Neuropsychiatr Genet
, vol.128
, pp. 50-53
-
-
Shibayama, A.1
Cook Jr., E.H.2
Feng, J.3
Glanzmann, C.4
Yan, J.5
Craddock, N.6
Jones, I.R.7
Goldman, D.8
Heston, L.L.9
Sommer, S.S.10
-
24
-
-
33644657847
-
Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with non-syndromic mental retardation
-
M. Venturin, S. Moncini, V. Villa, S. Russo, M.T. Bonati, L. Larizza and P. Riva, Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with non-syndromic mental retardation, Neurogenetics 7 (2006), 59-66.
-
(2006)
Neurogenetics
, vol.7
, pp. 59-66
-
-
Venturin, M.1
Moncini, S.2
Villa, V.3
Russo, S.4
Bonati, M.T.5
Larizza, L.6
Riva, P.7
-
25
-
-
0034712749
-
A decamer duplication in the 3′ region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred
-
R. Vidal, T. Revesz, A. Rostagno, E. Kim, J.L. Holton, T. Bek, M. Bojsen-Moller, H. Braendgaard, G. Plant, J. Ghiso and B. Frangione, A decamer duplication in the 3′ region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred, Proc Natl Acad Sci USA 97 (2000), 4920-4925.
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 4920-4925
-
-
Vidal, R.1
Revesz, T.2
Rostagno, A.3
Kim, E.4
Holton, J.L.5
Bek, T.6
Bojsen-Moller, M.7
Braendgaard, H.8
Plant, G.9
Ghiso, J.10
Frangione, B.11
-
26
-
-
10944256767
-
Systematic identification and analysis of exonic splicing silencers
-
Z. Wang, M.E. Rolish, G. Yeo, V. Tung, M. Mawson and C.B. Burge, Systematic identification and analysis of exonic splicing silencers, Cell 119 (2004), 831-845.
-
(2004)
Cell
, vol.119
, pp. 831-845
-
-
Wang, Z.1
Rolish, M.E.2
Yeo, G.3
Tung, V.4
Mawson, M.5
Burge, C.B.6
-
27
-
-
0034717833
-
Genetic variation in the B7-1 gene in patients with multiple sclerosis
-
B.G. Weinshenker, D.D. Hebrink, C. Klein, E.J. Atkinson, P.C. O'Brien and C.T. McMurray, Genetic variation in the B7-1 gene in patients with multiple sclerosis, J Neuroimmunol 105 (2000), 184-188.
-
(2000)
J Neuroimmunol
, vol.105
, pp. 184-188
-
-
Weinshenker, B.G.1
Hebrink, D.D.2
Klein, C.3
Atkinson, E.J.4
O'Brien, P.C.5
McMurray, C.T.6
-
28
-
-
0035894857
-
A role for the cytoplasmic polyadenylation element in NMDA receptor-regulated mRNA translation in neurons
-
D.G. Wells, X. Dong, E.M. Quinlan, Y.S. Huang, M.F. Bear, J.D. Richter and J.R. Fallon, A role for the cytoplasmic polyadenylation element in NMDA receptor-regulated mRNA translation in neurons, J Neurosci 21 (2001), 9541-9548.
-
(2001)
J Neurosci
, vol.21
, pp. 9541-9548
-
-
Wells, D.G.1
Dong, X.2
Quinlan, E.M.3
Huang, Y.S.4
Bear, M.F.5
Richter, J.D.6
Fallon, J.R.7
-
29
-
-
2642525438
-
Computational definition of sequence motifs governing constitutive exon splicing
-
X.H. Zhang and L.A. Chasin, Computational definition of sequence motifs governing constitutive exon splicing, Genes Dev 18 (2004), 1241-1250.
-
(2004)
Genes Dev
, vol.18
, pp. 1241-1250
-
-
Zhang, X.H.1
Chasin, L.A.2
|