-
1
-
-
0035170550
-
Expression pattern of the Rett syndrome gene MeCP2 in primate prefrontal cortex
-
Akbarian S, Chen RZ, Gribnau J, Rasmussen TP, Fong H, Jaenisch R, and others. 2001. Expression pattern of the Rett syndrome gene MeCP2 in primate prefrontal cortex. Neurobiol Dis 8(5):784-91.
-
(2001)
Neurobiol Dis
, vol.8
, Issue.5
, pp. 784-791
-
-
Akbarian, S.1
Chen, R.Z.2
Gribnau, J.3
Rasmussen, T.P.4
Fong, H.5
Jaenisch, R.6
-
2
-
-
17444440488
-
Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes
-
Amir RE, Van den Veyver IB, Schultz R, Malicki DM, Tran CQ, Dahle EJ, and others. 2000. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. Ann Neurol 47(5):670-9.
-
(2000)
Ann Neurol
, vol.47
, Issue.5
, pp. 670-679
-
-
Amir, R.E.1
Van Den Veyver, I.B.2
Schultz, R.3
Malicki, D.M.4
Tran, C.Q.5
Dahle, E.J.6
-
3
-
-
0032830639
-
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
-
Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. 1999. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 23(2):185-8.
-
(1999)
Nat Genet
, vol.23
, Issue.2
, 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
-
4
-
-
0028904853
-
Selective dendritic alterations in the cortex of Rett syndrome
-
Armstrong D, Dunn JK, Antalffy B, Trivedi R. 1995. Selective dendritic alterations in the cortex of Rett syndrome. J Neuropathol Exp Neurol 54(2):195-201.
-
(1995)
J Neuropathol Exp Neurol
, vol.54
, Issue.2
, pp. 195-201
-
-
Armstrong, D.1
Dunn, J.K.2
Antalffy, B.3
Trivedi, R.4
-
6
-
-
0033024279
-
Organ growth in Rett syndrome: A postmortem examination analysis
-
Armstrong DD, Dunn JK, Schultz RJ, Herbert DA, Glaze DG, Motil KJ. 1999. Organ growth in Rett syndrome: a postmortem examination analysis. Pediatr Neurol 20(2):125-9.
-
(1999)
Pediatr Neurol
, vol.20
, Issue.2
, pp. 125-129
-
-
Armstrong, D.D.1
Dunn, J.K.2
Schultz, R.J.3
Herbert, D.A.4
Glaze, D.G.5
Motil, K.J.6
-
7
-
-
0034761333
-
Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation
-
Armstrong J, Pineda M, Aibar E, Gean E, Monros E. 2001. Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation. Ann Neurol 50(5):692.
-
(2001)
Ann Neurol
, vol.50
, Issue.5
, pp. 692
-
-
Armstrong, J.1
Pineda, M.2
Aibar, E.3
Gean, E.4
Monros, E.5
-
8
-
-
0028906338
-
Autism as a strongly genetic disorder: Evidence from a British twin study
-
Bailey A, Le Couteur A, Gottesman I, Bolton P, Simonoff E, Yuzda E, and others. 1995. Autism as a strongly genetic disorder: evidence from a British twin study. Psychol Med 25(1):63-77.
-
(1995)
Psychol Med
, vol.25
, Issue.1
, pp. 63-77
-
-
Bailey, A.1
Le Couteur, A.2
Gottesman, I.3
Bolton, P.4
Simonoff, E.5
Yuzda, E.6
-
9
-
-
0037280319
-
Elevated methyl-CpG-binding protein 2 expression is acquired during postnatal human brain development and is correlated with alternative polyadenylation
-
Balmer D, Goldstine J, Rao YM, LaSalle JM. 2003. Elevated methyl-CpG-binding protein 2 expression is acquired during postnatal human brain development and is correlated with alternative polyadenylation. J Mol Med 81(1):61-8.
-
(2003)
J Mol Med
, vol.81
, Issue.1
, pp. 61-68
-
-
Balmer, D.1
Goldstine, J.2
Rao, Y.M.3
LaSalle, J.M.4
-
10
-
-
0027963287
-
Rett syndrome: 3-D confocal microscopy of cortical pyramidal dendrites and afferents
-
Belichenko PV, Oldfors A, Hagberg B, Dahlstrom A. 1994. Rett syndrome: 3-D confocal microscopy of cortical pyramidal dendrites and afferents. Neuroreport 5(12):1509-13.
-
(1994)
Neuroreport
, vol.5
, Issue.12
, pp. 1509-1513
-
-
Belichenko, P.V.1
Oldfors, A.2
Hagberg, B.3
Dahlstrom, A.4
-
11
-
-
0036820950
-
International Molecular Genetic Study of Autism C. Mutation analysis of the coding sequence of the MECP2 gene in infantile autism
-
Beyer KS, Blasi F, Bacchelli E, Klauck SM, Maestrini E, Poustka A. 2002. International Molecular Genetic Study of Autism C. Mutation analysis of the coding sequence of the MECP2 gene in infantile autism. Hum Genet 111(4-5):305-9.
-
(2002)
Hum Genet
, vol.111
, Issue.4-5
, pp. 305-309
-
-
Beyer, K.S.1
Blasi, F.2
Bacchelli, E.3
Klauck, S.M.4
Maestrini, E.5
Poustka, A.6
-
12
-
-
0034701999
-
MECP2 mutations account for most cases of typical forms of Rett syndrome
-
Bienvenu T, Carrie A, de Roux N, Vinet MC, Jonveaux P, Couvert P, and others. 2000. MECP2 mutations account for most cases of typical forms of Rett syndrome. Hum Mol Genet 9(9):1377-84.
-
(2000)
Hum Mol Genet
, vol.9
, Issue.9
, pp. 1377-1384
-
-
Bienvenu, T.1
Carrie, A.2
De Roux, N.3
Vinet, M.C.4
Jonveaux, P.5
Couvert, P.6
-
13
-
-
0032544613
-
A tripartite protein complex with the potential to couple synaptic vesicle exocytosis to cell adhesion in brain
-
Butz S, Okamoto M, Sudhof TC. 1998. A tripartite protein complex with the potential to couple synaptic vesicle exocytosis to cell adhesion in brain. Cell 94(6):773-82.
-
(1998)
Cell
, vol.94
, Issue.6
, pp. 773-782
-
-
Butz, S.1
Okamoto, M.2
Sudhof, T.C.3
-
14
-
-
0038626842
-
Identification of MeCP2 mutations in a series of females with autistic disorder
-
Carney RM, Wolpert CM, Ravan SA, Shahbazian M, Ashley-Koch A, Cuccaro ML, and others. 2003. Identification of MeCP2 mutations in a series of females with autistic disorder. Pediatr Neurol 28(3):205-11.
-
(2003)
Pediatr Neurol
, vol.28
, Issue.3
, pp. 205-211
-
-
Carney, R.M.1
Wolpert, C.M.2
Ravan, S.A.3
Shahbazian, M.4
Ashley-Koch, A.5
Cuccaro, M.L.6
-
15
-
-
0036120178
-
Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome
-
Chae JH, Hwang YS, Kim KJ. 2002. Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome. J Child Neurol 17(1):3-36.
-
(2002)
J Child Neurol
, vol.17
, Issue.1
, pp. 3-36
-
-
Chae, J.H.1
Hwang, Y.S.2
Kim, K.J.3
-
16
-
-
0033152745
-
The methyl-CpG binding transcriptional repressor MeCP2 stably associates with nucleosomal DNA
-
Chandler SP, Guschin D, Landsberger N, Wolffe AP. 1999. The methyl-CpG binding transcriptional repressor MeCP2 stably associates with nucleosomal DNA. Biochemistry 38(22):7008-18.
-
(1999)
Biochemistry
, vol.38
, Issue.22
, pp. 7008-7018
-
-
Chandler, S.P.1
Guschin, D.2
Landsberger, N.3
Wolffe, A.P.4
-
17
-
-
18144443930
-
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: Correlation of disease severity with mutation type and location
-
Cheadle JP, Gill H, Fleming N, Maynard J, Kerr A, Leonard H, and others. 2000. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Hum Mol Genet 9(7):1119-29.
-
(2000)
Hum Mol Genet
, vol.9
, Issue.7
, pp. 1119-1129
-
-
Cheadle, J.P.1
Gill, H.2
Fleming, N.3
Maynard, J.4
Kerr, A.5
Leonard, H.6
-
18
-
-
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. 2001. Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice. Nat Genet 27(3):327-31.
-
(2001)
Nat Genet
, vol.27
, Issue.3
, pp. 327-331
-
-
Chen, R.Z.1
Akbarian, S.2
Tudor, M.3
Jaenisch, R.4
-
19
-
-
0034596477
-
Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males
-
Clayton-Smith J, Watson P, Ramsden S, Black GC. 2000. Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males. Lancet 356(9232):830-2.
-
(2000)
Lancet
, vol.356
, Issue.9232
, pp. 830-832
-
-
Clayton-Smith, J.1
Watson, P.2
Ramsden, S.3
Black, G.C.4
-
20
-
-
0036371289
-
MECP2 mutation in a boy with language disorder and schizophrenia
-
Cohen D, Lazar G, Couvert P, Desportes V, Lippe D, Mazet P, and others. 2002. MECP2 mutation in a boy with language disorder and schizophrenia. Am J Psychiatry 159(1):148-9.
-
(2002)
Am J Psychiatry
, vol.159
, Issue.1
, pp. 148-149
-
-
Cohen, D.1
Lazar, G.2
Couvert, P.3
Desportes, V.4
Lippe, D.5
Mazet, P.6
-
21
-
-
0037396585
-
Expression of MeCP2 in olfactory receptor neurons is developmentally regulated and occurs before synaptogenesis
-
Cohen DR, Matarazzo V, Palmer AM, Tu Y, Jeon OH, Pevsner J, and others. 2003. Expression of MeCP2 in olfactory receptor neurons is developmentally regulated and occurs before synaptogenesis. Mol Cell Neurosci 22(4):417-29.
-
(2003)
Mol Cell Neurosci
, vol.22
, Issue.4
, pp. 417-429
-
-
Cohen, D.R.1
Matarazzo, V.2
Palmer, A.M.3
Tu, Y.4
Jeon, O.H.5
Pevsner, J.6
-
22
-
-
0041375479
-
Mutation analysis of the MECP2 gene in patients with Rett syndrome
-
Conforti FL, Mazzei R, Magariello A, Patitucci A, Gabriele AL, Muglia M, and others. 2003. Mutation analysis of the MECP2 gene in patients with Rett syndrome. Am J Med Genet 117A(2):184-7.
-
(2003)
Am J Med Genet
, vol.117 A
, Issue.2
, pp. 184-187
-
-
Conforti, F.L.1
Mazzei, R.2
Magariello, A.3
Patitucci, A.4
Gabriele, A.L.5
Muglia, M.6
-
23
-
-
0035870846
-
MECP2 is highly mutated in X-linked mental retardation
-
Couvert P, Bienvenu T, Aquaviva C, Poirier K, Moraine C, Gendrot C, and others. 2001. MECP2 is highly mutated in X-linked mental retardation. Hum Mol Genet 10(9):941-6.
-
(2001)
Hum Mol Genet
, vol.10
, Issue.9
, pp. 941-946
-
-
Couvert, P.1
Bienvenu, T.2
Aquaviva, C.3
Poirier, K.4
Moraine, C.5
Gendrot, C.6
-
24
-
-
0037154144
-
A Rett syndrome MECP2 mutation that causes mental retardation in men
-
Dotti MT, Orrico A, De Stefano N, Battisti C, Sicurelli F, Severi S, and others. 2002. A Rett syndrome MECP2 mutation that causes mental retardation in men. Neurology 58(2):226-30.
-
(2002)
Neurology
, vol.58
, Issue.2
, pp. 226-230
-
-
Dotti, M.T.1
Orrico, A.2
De Stefano, N.3
Battisti, C.4
Sicurelli, F.5
Severi, S.6
-
25
-
-
0036211908
-
MECP2 mutation in a boy with severe neonatal encephalopathy: Clinical, neuropathological and molecular findings
-
Geerdink N, Rotteveel JJ, Lammens M, Sistermans EA, Heikens GT, Gabreels FJ, and others. 2002. MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings. Neuropediatrics 33(1):33-6.
-
(2002)
Neuropediatrics
, vol.33
, Issue.1
, pp. 33-36
-
-
Geerdink, N.1
Rotteveel, J.J.2
Lammens, M.3
Sistermans, E.A.4
Heikens, G.T.5
Gabreels, F.J.6
-
26
-
-
0035192501
-
Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: Tentative genotype/phenotype correlation
-
Giunti L, Pelagatti S, Lazzerini V, Guarducci S, Lapi E, Coviello S, and others. 2001. Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation. Brain Dev 23(suppl 1):S242-5.
-
(2001)
Brain Dev
, vol.23
, Issue.SUPPL. 1
-
-
Giunti, L.1
Pelagatti, S.2
Lazzerini, V.3
Guarducci, S.4
Lapi, E.5
Coviello, S.6
-
27
-
-
0018757804
-
Neurogenesis and neuron regeneration in the olfactory system of mammals II. Degeneration and reconstitution of the olfactory sensory neurons after axotomy
-
Graziadei GA, Graziadei PP. 1979. Neurogenesis and neuron regeneration in the olfactory system of mammals II. Degeneration and reconstitution of the olfactory sensory neurons after axotomy. J Neurocytol 8:197-213.
-
(1979)
J Neurocytol
, vol.8
, pp. 197-213
-
-
Graziadei, G.A.1
Graziadei, P.P.2
-
28
-
-
0035094767
-
A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome
-
Guy J, Hendrich B, Holmes M, Martin JE, Bird A. 2001. A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nat Genet 27(3):322-6.
-
(2001)
Nat Genet
, vol.27
, Issue.3
, pp. 322-326
-
-
Guy, J.1
Hendrich, B.2
Holmes, M.3
Martin, J.E.4
Bird, A.5
-
29
-
-
0020507697
-
A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases
-
Hagberg B, Aicardi J, Dias K, Ramos O. 1983. 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(4): 471-9.
-
(1983)
Ann Neurol
, vol.14
, Issue.4
, pp. 471-479
-
-
Hagberg, B.1
Aicardi, J.2
Dias, K.3
Ramos, O.4
-
30
-
-
0022005592
-
Rett syndrome: Criteria for inclusion and exclusion
-
Hagberg B, Goutieres F, Hanefeld F, Rett A, Wilson J. 1985. Rett syndrome: criteria for inclusion and exclusion. Brain Dev 7(3):372-3.
-
(1985)
Brain Dev
, vol.7
, Issue.3
, pp. 372-373
-
-
Hagberg, B.1
Goutieres, F.2
Hanefeld, F.3
Rett, A.4
Wilson, J.5
-
31
-
-
0028111560
-
Rett variants: A suggested model for inclusion criteria
-
Hagberg BA, Skjeldal OH. 1994. Rett variants: a suggested model for inclusion criteria. Pediatr Neurol 11(1):5-11.
-
(1994)
Pediatr Neurol
, vol.11
, Issue.1
, pp. 5-11
-
-
Hagberg, B.A.1
Skjeldal, O.H.2
-
32
-
-
0031792779
-
Identification and characterization of a family of mammalian methyl-CpG binding proteins
-
Hendrich B, Bird A. 1998. Identification and characterization of a family of mammalian methyl-CpG binding proteins. Mol Cell Biol 18(11):6538-47.
-
(1998)
Mol Cell Biol
, vol.18
, Issue.11
, pp. 6538-6547
-
-
Hendrich, B.1
Bird, A.2
-
33
-
-
0035868824
-
Closely related proteins MBD2 and MBD3 play distinctive but interacting roles in mouse development
-
Hendrich B, Guy J, Ramsahoye B, Wilson VA, Bird A. 2001. Closely related proteins MBD2 and MBD3 play distinctive but interacting roles in mouse development. Genes Dev 15(6):710-23.
-
(2001)
Genes Dev
, vol.15
, Issue.6
, pp. 710-723
-
-
Hendrich, B.1
Guy, J.2
Ramsahoye, B.3
Wilson, V.A.4
Bird, A.5
-
34
-
-
0037406067
-
The methyl-CpG binding domain and the evolving role of DNA methylation in animals
-
Hendrich B, Tweedie S. 2003. The methyl-CpG binding domain and the evolving role of DNA methylation in animals. Trends Genet 19(5):269-77.
-
(2003)
Trends Genet
, vol.19
, Issue.5
, pp. 269-277
-
-
Hendrich, B.1
Tweedie, S.2
-
35
-
-
0037408267
-
Dissociations of cerebral cortex, subcortical and cerebral white matter volumes in autistic boys
-
Herbert MR, Ziegler DA, Deutsch CK, O'Brien LM, Lange N, Bakardjiev A, and others. 2003. Dissociations of cerebral cortex, subcortical and cerebral white matter volumes in autistic boys. Brain 126(pt 5):1182-92.
-
(2003)
Brain
, vol.126
, Issue.PART 5
, pp. 1182-1192
-
-
Herbert, M.R.1
Ziegler, D.A.2
Deutsch, C.K.3
O'Brien, L.M.4
Lange, N.5
Bakardjiev, A.6
-
36
-
-
0035849529
-
MeCP2 mutations in children with and without the phenotype of Rett syndrome
-
Hoffbuhr K, Devaney JM, LaFleur B, Sirianni N, Scacheri C, Giron J, and others. 2001. MeCP2 mutations in children with and without the phenotype of Rett syndrome. Neurology 56(11):1486-95.
-
(2001)
Neurology
, vol.56
, Issue.11
, pp. 1486-1495
-
-
Hoffbuhr, K.1
Devaney, J.M.2
LaFleur, B.3
Sirianni, N.4
Scacheri, C.5
Giron, J.6
-
37
-
-
0036083275
-
Influence of mutation type and location on phenotype in 123 patients with Rett syndrome
-
Huppke P, Held M, Hanefeld F, Engel W, Laccone F. 2002. Influence of mutation type and location on phenotype in 123 patients with Rett syndrome. Neuropediatrics 33(2):63-8.
-
(2002)
Neuropediatrics
, vol.33
, Issue.2
, pp. 63-68
-
-
Huppke, P.1
Held, M.2
Hanefeld, F.3
Engel, W.4
Laccone, F.5
-
38
-
-
0034701904
-
Rett syndrome: Analysis of MECP2 and clinical characterization of 31 patients
-
Huppke P, Laccone F, Kramer N, Engel W, Hanefeld F. 2000. Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. Hum Mol Genet 9(9):1369-75.
-
(2000)
Hum Mol Genet
, vol.9
, Issue.9
, pp. 1369-1375
-
-
Huppke, P.1
Laccone, F.2
Kramer, N.3
Engel, W.4
Hanefeld, F.5
-
39
-
-
0016153603
-
Dendritic development in neocortex of children with mental defect and infantile spasms
-
Huttenlocher PR. 1974. Dendritic development in neocortex of children with mental defect and infantile spasms. Neurology 24(3): 203-10.
-
(1974)
Neurology
, vol.24
, Issue.3
, pp. 203-210
-
-
Huttenlocher, P.R.1
-
40
-
-
0018376668
-
Synaptic density in human frontal cortex-developmental changes and effects of aging
-
Huttenlocher PR. 1979. Synaptic density in human frontal cortex-developmental changes and effects of aging. Brain Res 163(2):195-205.
-
(1979)
Brain Res
, vol.163
, Issue.2
, pp. 195-205
-
-
Huttenlocher, P.R.1
-
41
-
-
0025801548
-
Dendritic and synaptic pathology in mental retardation
-
Huttenlocher PR. 1991. Dendritic and synaptic pathology in mental retardation. Pediatr Neurol 7(2):79-85.
-
(1991)
Pediatr Neurol
, vol.7
, Issue.2
, pp. 79-85
-
-
Huttenlocher, P.R.1
-
42
-
-
0033835893
-
The neuropathology of phenylketonuria: Human and animal studies
-
Huttenlocher PR. 2000. The neuropathology of phenylketonuria: human and animal studies. Eur J Pediatr 159(suppl 2):S102-6.
-
(2000)
Eur J Pediatr
, vol.159
, Issue.SUPPL. 2
-
-
Huttenlocher, P.R.1
-
43
-
-
0020262681
-
Synaptogenesis in human visual cortex - Evidence for synapse elimination during normal development
-
Huttenlocher PR, de Courten C, Garey LJ, Van der Loos H. 1982. Synaptogenesis in human visual cortex - evidence for synapse elimination during normal development. Neurosci Lett 33(3):247-52.
-
(1982)
Neurosci Lett
, vol.33
, Issue.3
, pp. 247-252
-
-
Huttenlocher, P.R.1
De Courten, C.2
Garey, L.J.3
Van Der Loos, H.4
-
44
-
-
0029036374
-
Neuroligin 1: A splice site-specific ligand for beta-neurexins
-
Ichtchenko K, Hata Y, Nguyen T, Ullrich B, Missler M, Moomaw C, and others. 1995. Neuroligin 1: a splice site-specific ligand for beta-neurexins. Cell 81(3):435-43.
-
(1995)
Cell
, vol.81
, Issue.3
, pp. 435-443
-
-
Ichtchenko, K.1
Hata, Y.2
Nguyen, T.3
Ullrich, B.4
Missler, M.5
Moomaw, C.6
-
45
-
-
0035078664
-
MECP2 mutation in non-fatal, non-progressive encephalopathy in a male
-
Imessaoudene B, Bonnefont JP, Royer G, Cormier-Daire V, Lyonnet S, Lyon G, and others. 2001. MECP2 mutation in non-fatal, non-progressive encephalopathy in a male. J Med Genet 38(3):171-4.
-
(2001)
J Med Genet
, vol.38
, Issue.3
, pp. 171-174
-
-
Imessaoudene, B.1
Bonnefont, J.P.2
Royer, G.3
Cormier-Daire, V.4
Lyonnet, S.5
Lyon, G.6
-
46
-
-
0030770840
-
Binding of neuroligins to PSD-95
-
Irie M, Hata Y, Takeuchi M, Ichtchenko K, Toyoda A, Hirao K, and others. 1997. Binding of neuroligins to PSD-95. Science 277(5331):1511-5.
-
(1997)
Science
, vol.277
, Issue.5331
, pp. 1511-1515
-
-
Irie, M.1
Hata, Y.2
Takeuchi, M.3
Ichtchenko, K.4
Toyoda, A.5
Hirao, K.6
-
47
-
-
0033797832
-
Dendritic spine structural anomalies in fragile-X mental retardation syndrome
-
Irwin SA, Galvez R, Greenough WT. 2000. Dendritic spine structural anomalies in fragile-X mental retardation syndrome. Cereb Cortex 10(10):1038-44.
-
(2000)
Cereb Cortex
, vol.10
, Issue.10
, pp. 1038-1044
-
-
Irwin, S.A.1
Galvez, R.2
Greenough, W.T.3
-
48
-
-
0037656313
-
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
-
Jamain S, Quach H, Betancur C, Rastam M, Colineaux C, Gillberg IC, and others. 2003. Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet 34(1):27-9.
-
(2003)
Nat Genet
, vol.34
, Issue.1
, pp. 27-29
-
-
Jamain, S.1
Quach, H.2
Betancur, C.3
Rastam, M.4
Colineaux, C.5
Gillberg, I.C.6
-
49
-
-
0032893989
-
Male Rett syndrome variant: Application of diagnostic criteria
-
Jan MM, Dooley JM, Gordon KE. 1999. Male Rett syndrome variant: application of diagnostic criteria. Pediatr Neurol 20(3):238-40.
-
(1999)
Pediatr Neurol
, vol.20
, Issue.3
, pp. 238-240
-
-
Jan, M.M.1
Dooley, J.M.2
Gordon, K.E.3
-
50
-
-
0025847439
-
Puppet-like syndrome of Angelman: A pathologic and neurochemical study
-
Jay V, Becker LE, Chan FW, Perry TL Sr. 1991. Puppet-like syndrome of Angelman: a pathologic and neurochemical study. Neurology 41(3):416-22.
-
(1991)
Neurology
, vol.41
, Issue.3
, pp. 416-422
-
-
Jay, V.1
Becker, L.E.2
Chan, F.W.3
Perry Sr., T.L.4
-
51
-
-
0037381336
-
The expression of methyl CpG binding factor MeCP2 correlates with cellular differentiation in the developing rat brain and in cultured cells
-
Jung BP, Jugloff DG, Zhang G, Logan R, Brown S, Eubanks JH. 2003. The expression of methyl CpG binding factor MeCP2 correlates with cellular differentiation in the developing rat brain and in cultured cells. J Neurobiol 55(1):86-96.
-
(2003)
J Neurobiol
, vol.55
, Issue.1
, pp. 86-96
-
-
Jung, B.P.1
Jugloff, D.G.2
Zhang, G.3
Logan, R.4
Brown, S.5
Eubanks, J.H.6
-
53
-
-
0036342888
-
Neuropathology of infantile autism
-
Kemper TL, Bauman ML. 2002. Neuropathology of infantile autism. Mol Psychiatry 7(suppl 2):S12-3.
-
(2002)
Mol Psychiatry
, vol.7
, Issue.SUPPL. 2
-
-
Kemper, T.L.1
Bauman, M.L.2
-
54
-
-
0036207456
-
A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome
-
Klauck SM, Lindsay S, Beyer KS, Splitt M, Burn J, Poustka A. 2002. A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome. Am J Hum Genet 70:4.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 4
-
-
Klauck, S.M.1
Lindsay, S.2
Beyer, K.S.3
Splitt, M.4
Burn, J.5
Poustka, A.6
-
55
-
-
0036557829
-
De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia
-
Kleefstra T, Yntema HG, Oudakker AR, Romein T, Sistermans E, Nillessen W, and others. 2002. De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia. Clin Genet 61(5):359-62.
-
(2002)
Clin Genet
, vol.61
, Issue.5
, pp. 359-362
-
-
Kleefstra, T.1
Yntema, H.G.2
Oudakker, A.R.3
Romein, T.4
Sistermans, E.5
Nillessen, W.6
-
56
-
-
0037488244
-
Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain
-
Kudo S, Nomura Y, Segawa M, Fujita N, Nakao M, Schanen C, and others. 2003. Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain. J Med Genet 40(7):487-93.
-
(2003)
J Med Genet
, vol.40
, Issue.7
, pp. 487-493
-
-
Kudo, S.1
Nomura, Y.2
Segawa, M.3
Fujita, N.4
Nakao, M.5
Schanen, C.6
-
57
-
-
0031861717
-
CIPP, a novel multivalent PDZ domain protein, selectively interacts with Kir4.0 family members, NMDA receptor subunits, neurexins, and neuroligins
-
Kurschner C, Mermelstein PG, Holden WT, Surmeier DJ. 1998. CIPP, a novel multivalent PDZ domain protein, selectively interacts with Kir4.0 family members, NMDA receptor subunits, neurexins, and neuroligins. Mol Cell Neurosci 11(3):161-72.
-
(1998)
Mol Cell Neurosci
, vol.11
, Issue.3
, pp. 161-172
-
-
Kurschner, C.1
Mermelstein, P.G.2
Holden, W.T.3
Surmeier, D.J.4
-
58
-
-
0036347620
-
MECP2 gene nucleotide changes and their pathogenicity in males: Proceed with caution
-
Laccone F, Zoll B, Huppke P, Hanefeld F, Pepinski W, Trappe R. 2002. MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution. J Med Genet 39(8):586-8.
-
(2002)
J Med Genet
, vol.39
, Issue.8
, pp. 586-588
-
-
Laccone, F.1
Zoll, B.2
Huppke, P.3
Hanefeld, F.4
Pepinski, W.5
Trappe, R.6
-
59
-
-
0041896827
-
Spectrum of MECP2 mutations in Rett syndrome
-
Lee SS, Wan M, Francke U. 2001. Spectrum of MECP2 mutations in Rett syndrome. Brain Dev 23(suppl 1):S138-43.
-
(2001)
Brain Dev
, vol.23
, Issue.SUPPL. 1
-
-
Lee, S.S.1
Wan, M.2
Francke, U.3
-
60
-
-
0042278588
-
Patients with the R133C mutation: Is their phenotype different from patients with Rett syndrome with other mutations?
-
Leonard H, Colvin L, Christodoulou J, Schiavello T, Williamson S, Davis M, and others. 2003. Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations? J Med Genet 40(5):e52.
-
(2003)
J Med Genet
, vol.40
, Issue.5
-
-
Leonard, H.1
Colvin, L.2
Christodoulou, J.3
Schiavello, T.4
Williamson, S.5
Davis, M.6
-
61
-
-
0034969850
-
Occurrence of Rett syndrome in boys
-
Leonard H, Silberstein J, Falk R, Houwink-Manville I, Ellaway C, Raffaele LS, and others. 2001. Occurrence of Rett syndrome in boys. J Child Neurol 16(5):333-8.
-
(2001)
J Child Neurol
, vol.16
, Issue.5
, pp. 333-338
-
-
Leonard, H.1
Silberstein, J.2
Falk, R.3
Houwink-Manville, I.4
Ellaway, C.5
Raffaele, L.S.6
-
62
-
-
0026747761
-
Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA
-
Lewis JD, Meehan RR, Henzel WJ, Maurer-Fogy I, Jeppesen P, Klein F, and others. 1992. Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA. Cell 69(6):905-14.
-
(1992)
Cell
, vol.69
, Issue.6
, pp. 905-914
-
-
Lewis, J.D.1
Meehan, R.R.2
Henzel, W.J.3
Maurer-Fogy, I.4
Jeppesen, P.5
Klein, F.6
-
63
-
-
0042878489
-
Absence of MeCP2 mutations in patients from the South Carolina autism project
-
Lobo-Menendez F, Sossey-Alaoui K, Bell JM, Copeland-Yates SA, Plank SM, Sanford SO, and others. 2003. Absence of MeCP2 mutations in patients from the South Carolina autism project. Am J Med Genet 117B(1):97-101.
-
(2003)
Am J Med Genet
, vol.117 B
, Issue.1
, pp. 97-101
-
-
Lobo-Menendez, F.1
Sossey-Alaoui, K.2
Bell, J.M.3
Copeland-Yates, S.A.4
Plank, S.M.5
Sanford, S.O.6
-
64
-
-
0036818764
-
De novo MECP2 mutation in a 46,XX male patient with Rett syndrome
-
Maiwald R, Bonte A, Jung H, Bitter P, Storm Z, Laccone F, and others. 2002. De novo MECP2 mutation in a 46,XX male patient with Rett syndrome. Neurogenetics 4(2):107-8.
-
(2002)
Neurogenetics
, vol.4
, Issue.2
, pp. 107-108
-
-
Maiwald, R.1
Bonte, A.2
Jung, H.3
Bitter, P.4
Storm, Z.5
Laccone, F.6
-
65
-
-
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, Mari F, Rizzolio F, D'Adamo P, and others. 2000. A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. Am J Hum Genet 67(4):982-5.
-
(2000)
Am J Hum Genet
, vol.67
, Issue.4
, pp. 982-985
-
-
Meloni, I.1
Bruttini, M.2
Longo, I.3
Mari, F.4
Rizzolio, F.5
D'Adamo, P.6
-
66
-
-
0037135130
-
Enhanced CpG mutability and tumorigenesis in MBD4-deficient mice
-
Millar CB, Guy J, Sansom OJ, Selfridge J, MacDougall E, Hendrich B, and others. 2002. Enhanced CpG mutability and tumorigenesis in MBD4-deficient mice. Science 297(5580):403-5.
-
(2002)
Science
, vol.297
, Issue.5580
, pp. 403-405
-
-
Millar, C.B.1
Guy, J.2
Sansom, O.J.3
Selfridge, J.4
MacDougall, E.5
Hendrich, B.6
-
67
-
-
0035196349
-
Rett syndrome in Spain: Mutation analysis and clinical correlations
-
Monros E, Armstrong J, Aibar E, Poo P, Canos I, Pineda M. 2001. Rett syndrome in Spain: mutation analysis and clinical correlations. Brain Dev 23(suppl 1):S251-3.
-
(2001)
Brain Dev
, vol.23
, Issue.SUPPL. 1
-
-
Monros, E.1
Armstrong, J.2
Aibar, E.3
Poo, P.4
Canos, I.5
Pineda, M.6
-
68
-
-
0342437491
-
MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin
-
Nan X, Campoy FJ, Bird A. 1997. MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin. Cell 88(4):471-81.
-
(1997)
Cell
, vol.88
, Issue.4
, pp. 471-481
-
-
Nan, X.1
Campoy, F.J.2
Bird, A.3
-
69
-
-
0027495467
-
Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2
-
Nan X, Meehan RR, Bird A. 1993. Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2. Nucleic Acids Res 21(21):4886-92.
-
(1993)
Nucleic Acids Res
, vol.21
, Issue.21
, pp. 4886-4892
-
-
Nan, X.1
Meehan, R.R.2
Bird, A.3
-
70
-
-
0032574977
-
Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex
-
Nan X, Ng HH, Johnson CA, Laherty CD, Turner BM, Eisenman RN, and others. 1998. Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex. Nature 393(6683):386-9.
-
(1998)
Nature
, vol.393
, Issue.6683
, pp. 386-389
-
-
Nan, X.1
Ng, H.H.2
Johnson, C.A.3
Laherty, C.D.4
Turner, B.M.5
Eisenman, R.N.6
-
71
-
-
0029655782
-
DNA methylation specifies chromosomal localization of MeCP2
-
Nan X, Tate P, Li E, Bird A. 1996. DNA methylation specifies chromosomal localization of MeCP2. Mol Cell Biol 16(1):414-21.
-
(1996)
Mol Cell Biol
, vol.16
, Issue.1
, pp. 414-421
-
-
Nan, X.1
Tate, P.2
Li, E.3
Bird, A.4
-
72
-
-
1842328567
-
Binding properties of neuroligin 1 and neurexin 1beta reveal function as heterophilic cell adhesion molecules
-
Nguyen T, Sudhof TC. 1997. Binding properties of neuroligin 1 and neurexin 1beta reveal function as heterophilic cell adhesion molecules. Biol Chem 272(41):26032-9.
-
(1997)
Biol Chem
, vol.272
, Issue.41
, pp. 26032-26039
-
-
Nguyen, T.1
Sudhof, T.C.2
-
73
-
-
0035076360
-
MECP2 mutations in Danish patients with Rett syndrome: High frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern
-
Nielsen JB, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N. 2001. MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern. Eur J Hum Genet 9(3):178-84.
-
(2001)
Eur J Hum Genet
, vol.9
, Issue.3
, pp. 178-184
-
-
Nielsen, J.B.1
Henriksen, K.F.2
Hansen, C.3
Silahtaroglu, A.4
Schwartz, M.5
Tommerup, N.6
-
74
-
-
0033854457
-
Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome
-
Obata K, Matsuishi T, Yamashita Y, Fukuda T, Kuwajima K, Horiuchi I, and others. 2000. Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome. J Med Genet 37(8):608-10.
-
(2000)
J Med Genet
, vol.37
, Issue.8
, pp. 608-610
-
-
Obata, K.1
Matsuishi, T.2
Yamashita, Y.3
Fukuda, T.4
Kuwajima, K.5
Horiuchi, I.6
-
75
-
-
18244432131
-
MECP2 mutation in male patients with non-specific X-linked mental retardation
-
Orrico A, Lam C, Galli L, Dotti MT, Hayek G, Tong SF, and others. 2000. MECP2 mutation in male patients with non-specific X-linked mental retardation. FEBS Lett 481(3):285-8.
-
(2000)
FEBS Lett
, vol.481
, Issue.3
, pp. 285-288
-
-
Orrico, A.1
Lam, C.2
Galli, L.3
Dotti, M.T.4
Hayek, G.5
Tong, S.F.6
-
76
-
-
0036829488
-
Rett syndrome. Current status and new vistas
-
Percy AK. 2002. Rett syndrome. Current status and new vistas. Neurol Clin 20(4):1125-41.
-
(2002)
Neurol Clin
, vol.20
, Issue.4
, pp. 1125-1141
-
-
Percy, A.K.1
-
77
-
-
0037271866
-
No correlation between phenotype and genotype in boys with a truncating MECP2 mutation
-
Ravn K, Nielsen JB, Uldall P, Hansen FJ, Schwartz M. 2003. No correlation between phenotype and genotype in boys with a truncating MECP2 mutation. J Med Genet 40(1):e5.
-
(2003)
J Med Genet
, vol.40
, Issue.1
-
-
Ravn, K.1
Nielsen, J.B.2
Uldall, P.3
Hansen, F.J.4
Schwartz, M.5
-
79
-
-
0014011176
-
On a unusual brain atrophy syndrome in hyperammonemia in childhood
-
Rett A. 1966. [On a unusual brain atrophy syndrome in hyperammonemia in childhood]. Wien Med Wochenschr 116(37):723-6.
-
(1966)
Wien Med Wochenschr
, vol.116
, Issue.37
, pp. 723-726
-
-
Rett, A.1
-
80
-
-
0041843793
-
Olfactory biopsies demonstrate a defect in neuronal development in Rett's syndrome
-
Ronnett GV, Leopold D, Cai X, Hoffbuhr KC, Moses L, Hoffman EP, and others. 2003. Olfactory biopsies demonstrate a defect in neuronal development in Rett's syndrome. Ann Neurol 54(2):206-18.
-
(2003)
Ann Neurol
, vol.54
, Issue.2
, pp. 206-218
-
-
Ronnett, G.V.1
Leopold, D.2
Cai, X.3
Hoffbuhr, K.C.4
Moses, L.5
Hoffman, E.P.6
-
81
-
-
0034625250
-
Neuroligin expressed in nonneuronal cells triggers presynaptic development in contacting axons
-
Scheiffele P, Fan J, Choih J, Fetter R, Serafini T. 2000. Neuroligin expressed in nonneuronal cells triggers presynaptic development in contacting axons. Cell 101(6):657-69.
-
(2000)
Cell
, vol.101
, Issue.6
, pp. 657-669
-
-
Scheiffele, P.1
Fan, J.2
Choih, J.3
Fetter, R.4
Serafini, T.5
-
82
-
-
0034891348
-
Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene
-
Schwartzman JS, Bernardino A, Nishimura A, Gomes RR, Zatz M. 2001. Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene. Neuropediatrics 32(3): 162-4.
-
(2001)
Neuropediatrics
, vol.32
, Issue.3
, pp. 162-164
-
-
Schwartzman, J.S.1
Bernardino, A.2
Nishimura, A.3
Gomes, R.R.4
Zatz, M.5
-
83
-
-
0037130455
-
Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3
-
Shahbazian M, Young J, Yuva-Paylor L, Spencer C, Antalffy B, Noebels J, and others. 2002. Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron 35(2):243-54.
-
(2002)
Neuron
, vol.35
, Issue.2
, pp. 243-254
-
-
Shahbazian, M.1
Young, J.2
Yuva-Paylor, L.3
Spencer, C.4
Antalffy, B.5
Noebels, J.6
-
84
-
-
0037081840
-
Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation
-
Shahbazian MD, Antalffy B, Armstrong DL, Zoghbi HY. 2002. Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation. Hum Mol Genet 11(2):115-24.
-
(2002)
Hum Mol Genet
, vol.11
, Issue.2
, pp. 115-124
-
-
Shahbazian, M.D.1
Antalffy, B.2
Armstrong, D.L.3
Zoghbi, H.Y.4
-
85
-
-
0035072804
-
Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations
-
Shahbazian MD, Zoghbi HY. 2001. Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations. Curr Opin Neurol 14(2):171-6.
-
(2001)
Curr Opin Neurol
, vol.14
, Issue.2
, pp. 171-176
-
-
Shahbazian, M.D.1
Zoghbi, H.Y.2
-
86
-
-
0036917867
-
Rett syndrome and MeCP2: Linking epigenetics and neuronal function
-
Shahbazian MD, Zoghbi HY. 2002. Rett syndrome and MeCP2: linking epigenetics and neuronal function. Am J Hum Genet 71(6):1259-72.
-
(2002)
Am J Hum Genet
, vol.71
, Issue.6
, pp. 1259-1272
-
-
Shahbazian, M.D.1
Zoghbi, H.Y.2
-
87
-
-
0033514448
-
Neuroligin 1 is a postsynaptic cell-adhesion molecule of excitatory synapses
-
Song JY, Ichtchenko K, Sudhof TC, Brose N. 1999. Neuroligin 1 is a postsynaptic cell-adhesion molecule of excitatory synapses. Proc Natl Acad Sci U S A 96(3):1100-5.
-
(1999)
Proc Natl Acad Sci U S A
, vol.96
, Issue.3
, pp. 1100-1105
-
-
Song, J.Y.1
Ichtchenko, K.2
Sudhof, T.C.3
Brose, N.4
-
88
-
-
0043178993
-
A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by Notch in Xenopus embryos
-
Stancheva I, Collins AL, Van den Veyver IB, Zoghbi HY, Meehan R. 2003. A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by Notch in Xenopus embryos. Mol Cell 12:425-35.
-
(2003)
Mol Cell
, vol.12
, pp. 425-435
-
-
Stancheva, I.1
Collins, A.L.2
Van Den Veyver, I.B.3
Zoghbi, H.Y.4
Meehan, R.5
-
89
-
-
85047697344
-
Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy
-
Topcu M, Akyerli C, Sayi A, Toruner GA, Kocoglu SR, Cimbis M, and others. 2002. Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy. Eur J Hum Genet 10(1):77-81.
-
(2002)
Eur J Hum Genet
, vol.10
, Issue.1
, pp. 77-81
-
-
Topcu, M.1
Akyerli, C.2
Sayi, A.3
Toruner, G.A.4
Kocoglu, S.R.5
Cimbis, M.6
-
90
-
-
0034711147
-
Two affected boys in a Rett syndrome family: Clinical and molecular findings
-
Villard L, Kpebe A, Cardoso C, Chelly PJ, Tardieu PM, Fontes M. 2000. Two affected boys in a Rett syndrome family: clinical and molecular findings. Neurology 55(8):1188-93.
-
(2000)
Neurology
, vol.55
, Issue.8
, pp. 1188-1193
-
-
Villard, L.1
Kpebe, A.2
Cardoso, C.3
Chelly, P.J.4
Tardieu, P.M.5
Fontes, M.6
-
91
-
-
0034865096
-
No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients
-
Vourc'h P, Bienvenu T, Beldjord C, Chelly J, Barthelemy C, Muh JP, and others. 2001. No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients. Eur J Hum Genet 9(7):556-8.
-
(2001)
Eur J Hum Genet
, vol.9
, Issue.7
, pp. 556-558
-
-
Vourc'h, P.1
Bienvenu, T.2
Beldjord, C.3
Chelly, J.4
Barthelemy, C.5
Muh, J.P.6
-
92
-
-
0035542974
-
Methyl CpG-binding proteins and transcriptional repression
-
Wade PA. 2001. Methyl CpG-binding proteins and transcriptional repression. Bioessays 23(12):1131-7.
-
(2001)
Bioessays
, vol.23
, Issue.12
, pp. 1131-1137
-
-
Wade, P.A.1
-
93
-
-
0033365401
-
Rett syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hotspots
-
Wan M, Lee SS, Zhang X, Houwink-Manville I, Song HR, Amir RE, and others. 1999. Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Am J Hum Genet 65(6):1520-9.
-
(1999)
Am J Hum Genet
, vol.65
, Issue.6
, pp. 1520-1529
-
-
Wan, M.1
Lee, S.S.2
Zhang, X.3
Houwink-Manville, I.4
Song, H.R.5
Amir, R.E.6
-
94
-
-
0037824702
-
Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype
-
Weaving LS, Williamson SL, Bennetts B, Davis M, Ellaway CJ, Leonard H, and others. 2003. Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype. Am J Med Genet 118A(2):103-14.
-
(2003)
Am J Med Genet
, vol.118 A
, Issue.2
, pp. 103-114
-
-
Weaving, L.S.1
Williamson, S.L.2
Bennetts, B.3
Davis, M.4
Ellaway, C.J.5
Leonard, H.6
-
95
-
-
0036389872
-
Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: Is there a need for routine screening?
-
Winnepenninckx B, Errijgers V, Hayez-Delatte F, Reyniers E, Frank Kooy R. 2002. Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening? Hum Mutat 20(4):249-52.
-
(2002)
Hum Mutat
, vol.20
, Issue.4
, pp. 249-252
-
-
Winnepenninckx, B.1
Errijgers, V.2
Hayez-Delatte, F.3
Reyniers, E.4
Frank Kooy, R.5
-
96
-
-
17744401131
-
Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation
-
Yamada Y, Miura K, Kumagai T, Hayakawa C, Miyazaki S, Matsumoto A, and others. 2001. Molecular analysis of Japanese patients with Rett syndrome: identification of five novel mutations and genotype-phenotype correlation. Hum Mutat 18(3):253.
-
(2001)
Hum Mutat
, vol.18
, Issue.3
, pp. 253
-
-
Yamada, Y.1
Miura, K.2
Kumagai, T.3
Hayakawa, C.4
Miyazaki, S.5
Matsumoto, A.6
-
97
-
-
0035192492
-
Mutation analysis of the methyl-CpG-binding protein 2 gene (MECP2) in Rett patients with preserved speech
-
Yamashita Y, Kondo I, Fukuda T, Morishima R, Kusaga A, Iwanaga R, and others. 2001. Mutation analysis of the methyl-CpG-binding protein 2 gene (MECP2) in Rett patients with preserved speech. Brain Dev 23(suppl 1):S157-60.
-
(2001)
Brain Dev
, vol.23
, Issue.SUPPL. 1
-
-
Yamashita, Y.1
Kondo, I.2
Fukuda, T.3
Morishima, R.4
Kusaga, A.5
Iwanaga, R.6
-
98
-
-
0035991641
-
Low frequency of MECP2 mutations in mentally retarded males
-
Yntema HG, Kleefstra T, Oudakker AR, Romein T, De Vries BB, Nillesen W, and others. 2002. Low frequency of MECP2 mutations in mentally retarded males. Eur J Hum Genet 10(8):487-90.
-
(2002)
Eur J Hum Genet
, vol.10
, Issue.8
, pp. 487-490
-
-
Yntema, H.G.1
Kleefstra, T.2
Oudakker, A.R.3
Romein, T.4
De Vries, B.B.5
Nillesen, W.6
-
99
-
-
18244382110
-
In-frame deletion in MECP2 causes mild nonspecific mental retardation
-
Yntema HG, Oudakker AR, Kleefstra T, Hamel BC, van Bokhoven H, Chelly J, and others. 2002. In-frame deletion in MECP2 causes mild nonspecific mental retardation. Am J Med Genet 107(1):81-3.
-
(2002)
Am J Med Genet
, vol.107
, Issue.1
, pp. 81-83
-
-
Yntema, H.G.1
Oudakker, A.R.2
Kleefstra, T.3
Hamel, B.C.4
Van Bokhoven, H.5
Chelly, J.6
-
100
-
-
0032406038
-
The preserved speech variant: A subgroup of the Rett complex: A clinical report of 30 cases
-
Zappella M, Gillberg C, Ehlers S. 1998. The preserved speech variant: a subgroup of the Rett complex: a clinical report of 30 cases. J Autism Dev Disord 28(6):519-26.
-
(1998)
J Autism Dev Disord
, vol.28
, Issue.6
, pp. 519-526
-
-
Zappella, M.1
Gillberg, C.2
Ehlers, S.3
-
101
-
-
0041819548
-
Study of MECP2 gene in Rett syndrome variants and autistic girls
-
Zappella M, Meloni I, Longo I, Canitano R, Hayek G, Rosaia L, and others. 2003. Study of MECP2 gene in Rett syndrome variants and autistic girls. Am J Med Genet 119B(1):102-7.
-
(2003)
Am J Med Genet
, vol.119 B
, Issue.1
, pp. 102-107
-
-
Zappella, M.1
Meloni, I.2
Longo, I.3
Canitano, R.4
Hayek, G.5
Rosaia, L.6
-
102
-
-
0035889272
-
Preserved speech variants of the Rett syndrome: Molecular and clinical analysis
-
Zappella M, Meloni I, Longo I, Hayek G, Renieri A. 2001. Preserved speech variants of the Rett syndrome: molecular and clinical analysis. Am J Med Genet 104(1):14-22.
-
(2001)
Am J Med Genet
, vol.104
, Issue.1
, pp. 14-22
-
-
Zappella, M.1
Meloni, I.2
Longo, I.3
Hayek, G.4
Renieri, A.5
-
103
-
-
0036120278
-
Rett syndrome: Clinical manifestations in males with MECP2 mutations
-
Zeev BB, Yaron Y, Schanen NC, Wolf H, Brandt N, Ginot N, and others. 2002. Rett syndrome: clinical manifestations in males with MECP2 mutations. J Child Neurol 17(1):20-4.
-
(2002)
J Child Neurol
, vol.17
, Issue.1
, pp. 20-24
-
-
Zeev, B.B.1
Yaron, Y.2
Schanen, N.C.3
Wolf, H.4
Brandt, N.5
Ginot, N.6
-
104
-
-
0037636512
-
Mice lacking methyl-CpG binding protein 1 have deficits in adult neurogenesis and hippocampal function
-
Zhao X, Ueba T, Christie BR, Barkho B, McConnell MJ, Nakashima K, and others. 2003. Mice lacking methyl-CpG binding protein 1 have deficits in adult neurogenesis and hippocampal function. Proc Natl Acad Sci U S A 100(11):6777-82.
-
(2003)
Proc Natl Acad Sci U S A
, vol.100
, Issue.11
, pp. 6777-6782
-
-
Zhao, X.1
Ueba, T.2
Christie, B.R.3
Barkho, B.4
McConnell, M.J.5
Nakashima, K.6
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