-
1
-
-
84873055553
-
Diagnostic and Statistical Manual of Mental Disorders. 4th ed. Washington, DC: American Psychiatric Association
-
American Psychiatric Association
-
American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. 4th ed. Washington, DC: American Psychiatric Association; 1994.
-
(1994)
-
-
-
2
-
-
33646010905
-
Rett syndrome in Australia: a review of the epidemiology
-
Laurvick CL, de Klerk N, Bower C, et al. Rett syndrome in Australia: a review of the epidemiology. J Pediatr. 2006;148:347-352.
-
(2006)
J Pediatr
, vol.148
, pp. 347-352
-
-
Laurvick, C.L.1
de Klerk, N.2
Bower, C.3
-
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. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl- CpG-binding protein 2. Nat Genet. 1999;23:185-188.
-
(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
-
4
-
-
42249095974
-
Specific mutations in methyl-CpGbinding protein 2 confer different severity in Rett syndrome
-
Neul JL, Fang P, Barrish J, et al. Specific mutations in methyl-CpGbinding protein 2 confer different severity in Rett syndrome. Neurology. 2008;70:1313-1321.
-
(2008)
Neurology
, vol.70
, pp. 1313-1321
-
-
Neul, J.L.1
Fang, P.2
Barrish, J.3
-
5
-
-
78650903501
-
Rett syndrome: revised diagnostic criteria and nomenclature
-
Neul JL, Kaufmann WE, Glaze DG, et al. Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol. 2010;68:944-950.
-
(2010)
Ann Neurol
, vol.68
, pp. 944-950
-
-
Neul, J.L.1
Kaufmann, W.E.2
Glaze, D.G.3
-
6
-
-
66149139048
-
High penetrance of autism and other neuropsychiatric symptoms in individuals with MECP2 duplications
-
Ramocki M, Peters SU, Tavyev YJ, et al. High penetrance of autism and other neuropsychiatric symptoms in individuals with MECP2 duplications. Ann Neurol. 2009;66:771-782.
-
(2009)
Ann Neurol
, vol.66
, pp. 771-782
-
-
Ramocki, M.1
Peters, S.U.2
Tavyev, Y.J.3
-
7
-
-
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
-
8
-
-
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
-
9
-
-
44849101156
-
A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome
-
Samaco RC, Fryer JD, Ren J, et al. A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome. Hum Mol Genet. 2008;17:1718-1727.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 1718-1727
-
-
Samaco, R.C.1
Fryer, J.D.2
Ren, J.3
-
10
-
-
0037130455
-
Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3
-
Shahbazian M, Young J, Yuva-Paylor L, et al. Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron. 2002;35:243-254.
-
(2002)
Neuron
, vol.35
, pp. 243-254
-
-
Shahbazian, M.1
Young, J.2
Yuva-Paylor, L.3
-
11
-
-
35548983001
-
Ube3a mRNA and protein expression are not decreased in Mecp2R168X mutant mice
-
Lawson-Yuen A, Liu D, Han L, et al. Ube3a mRNA and protein expression are not decreased in Mecp2R168X mutant mice. Brain Res. 2007;1180:1- 6.
-
(2007)
Brain Res
, vol.1180
, pp. 1-6
-
-
Lawson-Yuen, A.1
Liu, D.2
Han, L.3
-
12
-
-
84856270235
-
Rett syndrome mutation MeCP2 T158A disrupts DNA binding, protein stability and ERP responses
-
Goffin D, Allen M, Zhang L, et al. Rett syndrome mutation MeCP2 T158A disrupts DNA binding, protein stability and ERP responses. Nat Neurosci. 2012;15:274-283.
-
(2012)
Nat Neurosci
, vol.15
, pp. 274-283
-
-
Goffin, D.1
Allen, M.2
Zhang, L.3
-
13
-
-
84919847627
-
Reversal of neurological defects in a mouse model of Rett syndrome
-
Guy J, Gan J, Selfridge J, Cobb S, Bird A. Reversal of neurological defects in a mouse model of Rett syndrome. Science. 2007;8:8.
-
(2007)
Science
, vol.8
, pp. 8
-
-
Guy, J.1
Gan, J.2
Selfridge, J.3
Cobb, S.4
Bird, A.5
-
14
-
-
1642367538
-
Rett syndrome: a prototypical neurodevelopmental disorder
-
Neul JL, Zoghbi HY. Rett syndrome: a prototypical neurodevelopmental disorder. Neuroscientist. 2004;10:118-128.
-
(2004)
Neuroscientist
, vol.10
, pp. 118-128
-
-
Neul, J.L.1
Zoghbi, H.Y.2
-
15
-
-
33645218385
-
Rett syndrome: a Rosetta stone for understanding the molecular pathogenesis of autism
-
LaSalle JM, Hogart A, Thatcher KN. Rett syndrome: a Rosetta stone for understanding the molecular pathogenesis of autism. Int Rev Neurobiol. 2005;71:131-165.
-
(2005)
Int Rev Neurobiol
, vol.71
, pp. 131-165
-
-
LaSalle, J.M.1
Hogart, A.2
Thatcher, K.N.3
-
16
-
-
0014011176
-
[On a unusual brain atrophy syndrome in hyperammonemia in childhood]
-
Rett A. [On a unusual brain atrophy syndrome in hyperammonemia in childhood]. Wien Med Wochenschr. 1966;116:723-726.
-
(1966)
Wien Med Wochenschr
, vol.116
, pp. 723-726
-
-
Rett, A.1
-
17
-
-
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. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases. Ann Neurol. 1983;14:471-479.
-
(1983)
Ann Neurol
, vol.14
, pp. 471-479
-
-
Hagberg, B.1
Aicardi, J.2
Dias, K.3
Ramos, O.4
-
18
-
-
0036270792
-
Clinical manifestations and stages of Rett syndrome
-
Hagberg B. Clinical manifestations and stages of Rett syndrome. Ment Retard Dev Disabil Res Rev. 2002;8:61-65.
-
(2002)
Ment Retard Dev Disabil Res Rev
, vol.8
, pp. 61-65
-
-
Hagberg, B.1
-
19
-
-
0025274575
-
Extrapyramidal involvement in Rett's syndrome
-
FitzGerald PM, Jankovic J, Glaze DG, Schultz R, Percy AK. Extrapyramidal involvement in Rett's syndrome. Neurology. 1990;40:293-295.
-
(1990)
Neurology
, vol.40
, pp. 293-295
-
-
FitzGerald, P.M.1
Jankovic, J.2
Glaze, D.G.3
Schultz, R.4
Percy, A.K.5
-
22
-
-
0033512353
-
Oropharyngeal dysfunction and gastroesophageal dysmotility are present in girls and women with Rett syndrome
-
Motil KJ, Schultz RJ, Browning K, Trautwein L, Glaze DG. Oropharyngeal dysfunction and gastroesophageal dysmotility are present in girls and women with Rett syndrome. J Pediatr Gastroenterol Nutr. 1999;29:31-37.
-
(1999)
J Pediatr Gastroenterol Nutr
, vol.29
, pp. 31-37
-
-
Motil, K.J.1
Schultz, R.J.2
Browning, K.3
Trautwein, L.4
Glaze, D.G.5
-
23
-
-
77950503200
-
Epilepsy and the natural history of Rett syndrome
-
Glaze DG, Percy AK, Skinner S, et al. Epilepsy and the natural history of Rett syndrome. Neurology. 2010;74:909-912.
-
(2010)
Neurology
, vol.74
, pp. 909-912
-
-
Glaze, D.G.1
Percy, A.K.2
Skinner, S.3
-
25
-
-
33745892132
-
Vagus nerve stimulation for treatment of epilepsy in Rett syndrome
-
Wilfong AA, Schultz RJ. Vagus nerve stimulation for treatment of epilepsy in Rett syndrome. Dev Med Child Neurol. 2006;48:683-686.
-
(2006)
Dev Med Child Neurol
, vol.48
, pp. 683-686
-
-
Wilfong, A.A.1
Schultz, R.J.2
-
27
-
-
0035409467
-
Characterisation of breathing and associated central autonomic dysfunction in the Rett disorder
-
Julu PO, Kerr AM, Apartopoulos F, et al. Characterisation of breathing and associated central autonomic dysfunction in the Rett disorder. Arch Dis Child. 2001;85:29-37.
-
(2001)
Arch Dis Child
, vol.85
, pp. 29-37
-
-
Julu, P.O.1
Kerr, A.M.2
Apartopoulos, F.3
-
28
-
-
57349174628
-
Autonomic dysregulation in young girls with Rett Syndrome during nighttime in-home recordings
-
Weese-Mayer DE, Lieske SP, Boothby CM, Kenny AS, Bennett HL, Ramirez JM. Autonomic dysregulation in young girls with Rett Syndrome during nighttime in-home recordings. Pediatr Pulmonol. 2008;43:1045-1060.
-
(2008)
Pediatr Pulmonol
, vol.43
, pp. 1045-1060
-
-
Weese-Mayer, D.E.1
Lieske, S.P.2
Boothby, C.M.3
Kenny, A.S.4
Bennett, H.L.5
Ramirez, J.M.6
-
29
-
-
33748899822
-
Autonomic nervous system dysregulation: breathing and heart rate perturbation during wakefulness in young girls with Rett syndrome
-
Weese-Mayer DE, Lieske SP, Boothby CM, et al. Autonomic nervous system dysregulation: breathing and heart rate perturbation during wakefulness in young girls with Rett syndrome. Pediatr Res. 2006;60:443-449.
-
(2006)
Pediatr Res
, vol.60
, pp. 443-449
-
-
Weese-Mayer, D.E.1
Lieske, S.P.2
Boothby, C.M.3
-
30
-
-
27144461978
-
Assessment of the maturity-related brainstem functions reveals the heterogeneous phenotypes and facilitates clinical management of Rett syndrome
-
Julu PO, Witt Engerstrom I. Assessment of the maturity-related brainstem functions reveals the heterogeneous phenotypes and facilitates clinical management of Rett syndrome. Brain Dev. 2005;27(suppl 1):S43-S53.
-
(2005)
Brain Dev
, vol.27
, Issue.SUPPL. 1
-
-
Julu, P.O.1
Witt Engerstrom, I.2
-
31
-
-
0023157148
-
Rett's syndrome: characterization of respiratory patterns and sleep
-
Glaze DG, Frost JD Jr, Zoghbi HY, Percy AK. Rett's syndrome: characterization of respiratory patterns and sleep. Ann Neurol. 1987;21:377- 382.
-
(1987)
Ann Neurol
, vol.21
, pp. 377-382
-
-
Glaze, D.G.1
Frost Jr., J.D.2
Zoghbi, H.Y.3
Percy, A.K.4
-
32
-
-
35348868814
-
Disturbances in cardiorespiratory function during day and night in Rett syndrome
-
Rohdin M, Fernell E, Eriksson M, Albage M, Lagercrantz H, Katz- Salamon M. Disturbances in cardiorespiratory function during day and night in Rett syndrome. Pediatr Neurol. 2007;37:338-344.
-
(2007)
Pediatr Neurol
, vol.37
, pp. 338-344
-
-
Rohdin, M.1
Fernell, E.2
Eriksson, M.3
Albage, M.4
Lagercrantz, H.5
Katz-Salamon, M.6
-
33
-
-
83655193397
-
Pathogenesis of lethal cardiac arrhythmias in mecp2 mutant mice: implication for therapy in Rett syndrome
-
McCauley MD, Wang T, Mike E, et al. Pathogenesis of lethal cardiac arrhythmias in mecp2 mutant mice: implication for therapy in Rett syndrome. Sci Transl Med. 2011;3:113ra125.
-
(2011)
Sci Transl Med
, vol.3
-
-
McCauley, M.D.1
Wang, T.2
Mike, E.3
-
34
-
-
0031471323
-
Rett syndrome: analysis of deaths in the British survey
-
Kerr AM, Armstrong DD, Prescott RJ, Doyle D, Kearney DL. Rett syndrome: analysis of deaths in the British survey. Eur Child Adolesc Psychiatry. 1997;6:71-74.
-
(1997)
Eur Child Adolesc Psychiatry
, vol.6
, pp. 71-74
-
-
Kerr, A.M.1
Armstrong, D.D.2
Prescott, R.J.3
Doyle, D.4
Kearney, D.L.5
-
35
-
-
0032764776
-
Reduced heart rate variability in patients affected with Rett syndrome.A possible explanation for sudden death
-
Guideri F, Acampa M, Hayek G, Zappella M, Di Perri T. Reduced heart rate variability in patients affected with Rett syndrome. A possible explanation for sudden death. Neuropediatrics. 1999;30:146-148.
-
(1999)
Neuropediatrics.
, vol.30
, pp. 146-148
-
-
Guideri, F.1
Acampa, M.2
Hayek, G.3
Zappella, M.4
Di Perri, T.5
-
36
-
-
0022527714
-
Autism and Rett syndrome: some notes on differential diagnosis
-
Gillberg C. Autism and Rett syndrome: some notes on differential diagnosis. Am J Med Genet Suppl. 1986; 1: 127-131.
-
(1986)
Am J Med Genet Suppl
, vol.1
, pp. 127-131
-
-
Gillberg, C.1
-
37
-
-
0023608401
-
Autistic symptoms in Rett syndrome: the first two years according to mother reports
-
Gillberg C. Autistic symptoms in Rett syndrome: the first two years according to mother reports. Brain Dev. 1987;9:499-501.
-
(1987)
Brain Dev
, vol.9
, pp. 499-501
-
-
Gillberg, C.1
-
38
-
-
0027101923
-
Is Rett syndrome a subtype of pervasive developmental disorders?
-
Tsai LY. Is Rett syndrome a subtype of pervasive developmental disorders? J Autism Dev Disord. 1992;22:551-561.
-
(1992)
J Autism Dev Disord
, vol.22
, pp. 551-561
-
-
Tsai, L.Y.1
-
39
-
-
41849126341
-
The diagnosis of autism in a female: could it be Rett syndrome?
-
Young DJ, Bebbington A, Anderson A, et al. The diagnosis of autism in a female: could it be Rett syndrome? Eur J Pediatr. 2008;1 67:661-669.
-
(2008)
Eur J Pediatr
, vol.167
, pp. 661-669
-
-
Young, D.J.1
Bebbington, A.2
Anderson, A.3
-
41
-
-
84856885146
-
Social impairments in Rett syndrome: characteristics and relationship with clinical severity
-
Kaufmann WE, Tierney E, Rohde CA, et al. Social impairments in Rett syndrome: characteristics and relationship with clinical severity. J Intellect Disabil Res. 2011;56:233-247.
-
(2011)
J Intellect Disabil Res
, vol.56
, pp. 233-247
-
-
Kaufmann, W.E.1
Tierney, E.2
Rohde, C.A.3
-
42
-
-
0141539480
-
Features of autism in Rett syndrome and severe mental retardation
-
Mount R, Charman T, Hastings R, Reilly S, Cass H. Features of autism in Rett syndrome and severe mental retardation. J Autism Dev Disord. 2003;33:435-442.
-
(2003)
J Autism Dev Disord
, vol.33
, pp. 435-442
-
-
Mount, R.1
Charman, T.2
Hastings, R.3
Reilly, S.4
Cass, H.5
-
45
-
-
84859528225
-
Social preferences in Rett syndrome
-
Djukic A, McDermott MV. Social preferences in Rett syndrome. Pediatr Neurol. 2012; 46: 240-242
-
(2012)
Pediatr Neurol
, vol.46
, pp. 240-242
-
-
Djukic, A.1
McDermott, M.V.2
-
47
-
-
0035836047
-
Behavioural and emotional features in Rett syndrome
-
Mount RH, Hastings RP, Reilly S, Cass H, Charman T. Behavioural and emotional features in Rett syndrome. Disabil Rehabil. 2001;23:129-138.
-
(2001)
Disabil Rehabil
, vol.23
, pp. 129-138
-
-
Mount, R.H.1
Hastings, R.P.2
Reilly, S.3
Cass, H.4
Charman, T.5
-
49
-
-
77951715528
-
Linking MECP2 and pain sensitivity: the example of Rett syndrome
-
Downs J, Geranton SM, Bebbington A, et al. Linking MECP2 and pain sensitivity: the example of Rett syndrome. Am J Med Genet A. 2010;152A:1197-1205.
-
(2010)
Am J Med Genet A
, vol.152 A
, pp. 1197-1205
-
-
Downs, J.1
Geranton, S.M.2
Bebbington, A.3
-
50
-
-
34548670713
-
Sleep problems in Rett syndrome
-
Young D, Nagarajan L, de Klerk N, Jacoby P, Ellaway C, Leonard H. Sleep problems in Rett syndrome. Brain Dev. 2007;29:609-616.
-
(2007)
Brain Dev
, vol.29
, pp. 609-616
-
-
Young, D.1
Nagarajan, L.2
de Klerk, N.3
Jacoby, P.4
Ellaway, C.5
Leonard, H.6
-
51
-
-
84874190022
-
Polysomnographic findings in Rett syndrome: a case-control study
-
Sleep Breath.In press.
-
Carotenuto M, Esposito M, D'Aniello A, et al. Polysomnographic findings in Rett syndrome: a case-control study. Sleep Breath. In press.
-
-
-
Carotenuto, M.1
Esposito, M.2
D'Aniello, A.3
-
52
-
-
0032406038
-
The preserved speech variant: a subgroup of the Rett complex: a clinical report of 30 cases
-
Zappella M, Gillberg C, Ehlers S. The preserved speech variant: a subgroup of the Rett complex: a clinical report of 30 cases. J Autism Dev Disord. 1998;2 8:519-526.
-
(1998)
J Autism Dev Disord
, vol.28
, pp. 519-526
-
-
Zappella, M.1
Gillberg, C.2
Ehlers, S.3
-
53
-
-
0035889272
-
Preserved speech variants of the Rett syndrome: molecular and clinical analysis
-
Zappella M, Meloni I, Longo I, Hayek G, Renieri A. Preserved speech variants of the Rett syndrome: molecular and clinical analysis. Am J Med Genet. 2001; 104:14-22
-
(2001)
Am J Med Genet
, vol.104
, pp. 14-22
-
-
Zappella, M.1
Meloni, I.2
Longo, I.3
Hayek, G.4
Renieri, A.5
-
54
-
-
58049089902
-
Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant)
-
Renieri A, Mari F, Mencarelli MA, et al. Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant). Brain Dev. 2008.
-
(2008)
Brain Dev
-
-
Renieri, A.1
Mari, F.2
Mencarelli, M.A.3
-
55
-
-
0035130914
-
Epilepsy in a representative series of Rett syndrome
-
Steffenburg U, Hagberg G, Hagberg B. Epilepsy in a representative series of Rett syndrome. Acta Paediatr. 2001;9 0:34-39.
-
(2001)
Acta Paediatr
, vol.90
, pp. 34-39
-
-
Steffenburg, U.1
Hagberg, G.2
Hagberg, B.3
-
56
-
-
0021926093
-
The clinical pattern of the Rett syndrome
-
Hanefeld F. The clinical pattern of the Rett syndrome. Brain Dev. 1985; 7: 320-325
-
(1985)
Brain Dev
, vol.7
, pp. 320-325
-
-
Hanefeld, F.1
-
58
-
-
84858320510
-
Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases
-
Pini G, Bigoni S, Engerstrom IW, et al. Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases. Neuropediatrics. 2012;43:37-43.
-
(2012)
Neuropediatrics
, vol.43
, pp. 37-43
-
-
Pini, G.1
Bigoni, S.2
Engerstrom, I.W.3
-
59
-
-
44849144752
-
The three stages of epilepsy in patients with CDKL5 mutations
-
Bahi-Buisson N, Kaminska A, Boddaert N, et al. The three stages of epilepsy in patients with CDKL5 mutations. Epilepsia. 2008;49:1027-1037.
-
(2008)
Epilepsia
, vol.49
, pp. 1027-1037
-
-
Bahi-Buisson, N.1
Kaminska, A.2
Boddaert, N.3
-
60
-
-
33749242599
-
CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients
-
Archer HL, Evans J, Edwards S, et al. CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. J Med Genet. 2006;43:729-734.
-
(2006)
J Med Genet
, vol.43
, pp. 729-734
-
-
Archer, H.L.1
Evans, J.2
Edwards, S.3
-
61
-
-
0022005250
-
Rett syndrome: report of eight cases
-
Rolando S. Rett syndrome: report of eight cases. Brain Dev. 1985;7:290-296.
-
(1985)
Brain Dev
, vol.7
, pp. 290-296
-
-
Rolando, S.1
-
62
-
-
46149122036
-
FOXG1 is responsible for the congenital variant of Rett syndrome
-
Ariani F, Hayek G, Rondinella D, et al. FOXG1 is responsible for the congenital variant of Rett syndrome. Am J Hum Genet. 2008;83:89-93.
-
(2008)
Am J Hum Genet
, vol.83
, pp. 89-93
-
-
Ariani, F.1
Hayek, G.2
Rondinella, D.3
-
63
-
-
0034701904
-
Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients
-
Huppke P, Laccone F, Kramer N, Engel W, Hanefeld F. Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. Hum Mol Genet. 2000;9:1369-1375.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1369-1375
-
-
Huppke, P.1
Laccone, F.2
Kramer, N.3
Engel, W.4
Hanefeld, F.5
-
64
-
-
79958061872
-
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis
-
Kortum F, Das S, Flindt M, et al. The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med Genet. 2011;48:396-406.
-
(2011)
J Med Genet
, vol.48
, pp. 396-406
-
-
Kortum, F.1
Das, S.2
Flindt, M.3
-
65
-
-
0035054930
-
Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein
-
Watson P, Black G, Ramsden S, et al. Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein. J Med Genet. 2001;38:224-228.
-
(2001)
J Med Genet
, vol.38
, pp. 224-228
-
-
Watson, P.1
Black, G.2
Ramsden, S.3
-
66
-
-
18844476524
-
Developmental delay and the methyl binding genes
-
Turner H, MacDonald F, Warburton S, Latif F, Webb T. Developmental delay and the methyl binding genes. J Med Genet. 2003;40:E13.
-
(2003)
J Med Genet
, vol.40
-
-
Turner, H.1
MacDonald, F.2
Warburton, S.3
Latif, F.4
Webb, T.5
-
67
-
-
18144425480
-
Another patient with MECP2 mutation without classic Rett syndrome phenotype
-
Milani D, Pantaleoni C, D'Arrigo S, Selicorni A, Riva D. Another patient with MECP2 mutation without classic Rett syndrome phenotype. Pediatr Neurol. 2005;32:355-357.
-
(2005)
Pediatr Neurol
, vol.32
, pp. 355-357
-
-
Milani, D.1
Pantaleoni, C.2
D'Arrigo, S.3
Selicorni, A.4
Riva, D.5
-
68
-
-
33750443887
-
Very mild cases of Rett syndrome with skewed X inactivation
-
Huppke P, Maier EM, Warnke A, Brendel C, Laccone F, Gartner J. Very mild cases of Rett syndrome with skewed X inactivation. J Med Genet. 2006;43:814-816.
-
(2006)
J Med Genet
, vol.43
, pp. 814-816
-
-
Huppke, P.1
Maier, E.M.2
Warnke, A.3
Brendel, C.4
Laccone, F.5
Gartner, J.6
-
69
-
-
0038354500
-
The spectrum of phenotypes in females with Rett Syndrome
-
Huppke P, Held M, Laccone F, Hanefeld F. The spectrum of phenotypes in females with Rett Syndrome. Brain Dev. 2003;25:346-351.
-
(2003)
Brain Dev
, vol.25
, pp. 346-351
-
-
Huppke, P.1
Held, M.2
Laccone, F.3
Hanefeld, F.4
-
70
-
-
0036820950
-
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. Mutation analysis of the coding sequence of the MECP2 gene in infantile autism. Hum Genet. 2002;111:305-309.
-
(2002)
Hum Genet
, vol.111
, pp. 305-309
-
-
Beyer, K.S.1
Blasi, F.2
Bacchelli, E.3
Klauck, S.M.4
Maestrini, E.5
Poustka, A.6
-
71
-
-
34247370132
-
Sequence variants within exon 1 of MECP2 occur in females with mental retardation
-
Harvey CG, Menon SD, Stachowiak B, et al. Sequence variants within exon 1 of MECP2 occur in females with mental retardation. Am J Med Genet B Neuropsychiatr Genet. 2007;144B:355-360.
-
(2007)
Am J Med Genet B Neuropsychiatr Genet
, vol.144 B
, pp. 355-360
-
-
Harvey, C.G.1
Menon, S.D.2
Stachowiak, B.3
-
72
-
-
22244480982
-
Mutation analysis of methyl-CpG binding protein family genes in autistic patients
-
Li H, Yamagata T, Mori M, Yasuhara A, Momoi MY. Mutation analysis of methyl-CpG binding protein family genes in autistic patients. Brain Dev. 2005;27:321-325.
-
(2005)
Brain Dev
, vol.27
, pp. 321-325
-
-
Li, H.1
Yamagata, T.2
Mori, M.3
Yasuhara, A.4
Momoi, M.Y.5
-
74
-
-
0034865096
-
No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients
-
Vourc'h P, Bienvenu T, Beldjord C, et al. No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients. Eur J Hum Genet. 2001;9:556-558.
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 556-558
-
-
Vourc'h, P.1
Bienvenu, T.2
Beldjord, C.3
-
75
-
-
0038626842
-
Identification of MeCP2 mutations in a series of females with autistic disorder
-
Carney RM, Wolpert CM, Ravan SA, et al. Identification of MeCP2 mutations in a series of females with autistic disorder. Pediatr Neurol. 2003;28:205-211.
-
(2003)
Pediatr Neurol
, vol.28
, pp. 205-211
-
-
Carney, R.M.1
Wolpert, C.M.2
Ravan, S.A.3
-
76
-
-
34250849699
-
MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients
-
Coutinho AM, Oliveira G, Katz C, et al. MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients. Am J Med Genet B Neuropsychiatr Genet. 2007;144B:475-483.
-
(2007)
Am J Med Genet B Neuropsychiatr Genet
, vol.144 B
, pp. 475-483
-
-
Coutinho, A.M.1
Oliveira, G.2
Katz, C.3
-
77
-
-
3042847437
-
MECP2 structural and 3'-UTR variants in schizophrenia, autism and other psychiatric diseases: a possible association with autism
-
Shibayama A, Cook EH, Jr, Feng J, et al. 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. 2004;128:50-53.
-
(2004)
Am J Med Genet B Neuropsychiatr Genet
, vol.128
, pp. 50-53
-
-
Shibayama, A.1
Cook Jr., E.H.2
Feng, J.3
-
78
-
-
0035849529
-
MeCP2 mutations in children with and without the phenotype of Rett syndrome
-
Hoffbuhr K, Devaney JM, LaFleur B, et al. MeCP2 mutations in children with and without the phenotype of Rett syndrome. Neurology. 2001;56:1486-1495.
-
(2001)
Neurology
, vol.56
, pp. 1486-1495
-
-
Hoffbuhr, K.1
Devaney, J.M.2
LaFleur, B.3
-
79
-
-
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. Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene. Neuropediatrics. 2001;32:162-164.
-
(2001)
Neuropediatrics
, vol.32
, pp. 162-164
-
-
Schwartzman, J.S.1
Bernardino, A.2
Nishimura, A.3
Gomes, R.R.4
Zatz, M.5
-
80
-
-
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. Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation. Ann Neurol. 2001;50:692.
-
(2001)
Ann Neurol
, vol.50
, pp. 692
-
-
Armstrong, J.1
Pineda, M.2
Aibar, E.3
Gean, E.4
Monros, E.5
-
81
-
-
0034596477
-
Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males
-
Clayton-Smith J, Watson P, Ramsden S, Black GC. Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males. Lancet. 2000;356:830-832.
-
(2000)
Lancet
, vol.356
, pp. 830-832
-
-
Clayton-Smith, J.1
Watson, P.2
Ramsden, S.3
Black, G.C.4
-
82
-
-
33746861632
-
Early progressive encephalopathy in boys and MECP2 mutations
-
Kankirawatana P, Leonard H, Ellaway C, et al. Early progressive encephalopathy in boys and MECP2 mutations. Neurology. 2006;67:164-166.
-
(2006)
Neurology
, vol.67
, pp. 164-166
-
-
Kankirawatana, P.1
Leonard, H.2
Ellaway, C.3
-
83
-
-
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. A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome. Am J Hum Genet. 2002;70:1034-1037.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 1034-1037
-
-
Klauck, S.M.1
Lindsay, S.2
Beyer, K.S.3
Splitt, M.4
Burn, J.5
Poustka, A.6
-
84
-
-
18244432131
-
MECP2 mutation in male patients with non-specific X-linked mental retardation
-
Orrico A, Lam C, Galli L, et al. MECP2 mutation in male patients with non-specific X-linked mental retardation. FEBS Lett. 2000;481:285-288.
-
(2000)
FEBS Lett
, vol.481
, pp. 285-288
-
-
Orrico, A.1
Lam, C.2
Galli, L.3
-
85
-
-
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. 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. 2002;20:249-252.
-
(2002)
Hum Mutat
, vol.20
, pp. 249-252
-
-
Winnepenninckx, B.1
Errijgers, V.2
Hayez-Delatte, F.3
Reyniers, E.4
Frank Kooy, R.5
-
86
-
-
0036371289
-
MECP2 mutation in a boy with language disorder and schizophrenia
-
Cohen D, Lazar G, Couvert P, et al. MECP2 mutation in a boy with language disorder and schizophrenia. Am J Psychiatry. 2002;159:148-149.
-
(2002)
Am J Psychiatry
, vol.159
, pp. 148-149
-
-
Cohen, D.1
Lazar, G.2
Couvert, P.3
-
87
-
-
0035870846
-
MECP2 is highly mutated in X-linked mental retardation
-
Couvert P, Bienvenu T, Aquaviva C, Poirier K, Moraine C, Gendrot 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
Poirier, K.4
Moraine, C.5
Gendrot, C.6
-
88
-
-
8444253290
-
Mild overexpression of MeCP2 causes a progressive neurological disorder in mice
-
Collins AL, Levenson JM, Vilaythong AP, et al. Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Hum Mol Genet. 2004;13:2679-2689.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 2679-2689
-
-
Collins, A.L.1
Levenson, J.M.2
Vilaythong, A.P.3
-
89
-
-
62849107557
-
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy
-
Lugtenberg D, Kleefstra T, Oudakker AR, et al. Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy. Eur J Hum Genet. 2009;17:444-453.
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 444-453
-
-
Lugtenberg, D.1
Kleefstra, T.2
Oudakker, A.R.3
-
90
-
-
33749081269
-
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males
-
del Gaudio D, Fang P, Scaglia F, et al. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med. 2006;8:784-792.
-
(2006)
Genet Med
, vol.8
, pp. 784-792
-
-
del Gaudio, D.1
Fang, P.2
Scaglia, F.3
-
91
-
-
33845772985
-
Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28
-
Friez MJ, Jones JR, Clarkson K, et al. Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28. Pediatrics. 2006;118:e1687-1695.
-
(2006)
Pediatrics
, vol.118
-
-
Friez, M.J.1
Jones, J.R.2
Clarkson, K.3
-
92
-
-
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
-
93
-
-
51449090280
-
Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections
-
Smyk M, Obersztyn E, Nowakowska B, et al. Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections. Am J Med Genet B Neuropsychiatr Genet. 2008;147B:799-806.
-
(2008)
Am J Med Genet B Neuropsychiatr Genet
, vol.147 B
, pp. 799-806
-
-
Smyk, M.1
Obersztyn, E.2
Nowakowska, B.3
-
94
-
-
79960416688
-
MeCP2 is critical within HoxB1-derived tissues of mice for normal lifespan
-
Ward CS, Arvide EM, Huang TW, Yoo J, Noebels JL, Neul JL. MeCP2 is critical within HoxB1-derived tissues of mice for normal lifespan. J Neurosci. 2011;31:10359-10370.
-
(2011)
J Neurosci
, vol.31
, pp. 10359-10370
-
-
Ward, C.S.1
Arvide, E.M.2
Huang, T.W.3
Yoo, J.4
Noebels, J.L.5
Neul, J.L.6
-
95
-
-
76049091733
-
Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities
-
U S A
-
Samaco RC, Mandel-Brehm C, Chao HT, et al. Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities. Proc Natl Acad Sci U S A. 2009;106:21966-21971.
-
(2009)
Proc Natl Acad Sci
, vol.106
, pp. 21966-21971
-
-
Samaco, R.C.1
Mandel-Brehm, C.2
Chao, H.T.3
-
96
-
-
31444434393
-
The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression
-
Chang Q, Khare G, Dani V, Nelson S, Jaenisch R. The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression. Neuron. 2006;49:341-348.
-
(2006)
Neuron
, vol.49
, pp. 341-348
-
-
Chang, Q.1
Khare, G.2
Dani, V.3
Nelson, S.4
Jaenisch, R.5
-
97
-
-
35148840586
-
Brainderived neurotrophic factor expression and respiratory function improve after ampakine treatment in a mouse model of Rett syndrome
-
Ogier M, Wang H, Hong E, Wang Q, Greenberg ME, Katz DM. Brainderived neurotrophic factor expression and respiratory function improve after ampakine treatment in a mouse model of Rett syndrome. J Neurosci. 2007;27:10912-10917.
-
(2007)
J Neurosci
, vol.27
, pp. 10912-10917
-
-
Ogier, M.1
Wang, H.2
Hong, E.3
Wang, Q.4
Greenberg, M.E.5
Katz, D.M.6
-
98
-
-
84863025204
-
A TrkB small molecule partial agonist rescues TrkB phosphorylation deficits and improves respiratory function in a mouse model of Rett syndrome
-
Schmid DA, Yang T, Ogier M, et al. A TrkB small molecule partial agonist rescues TrkB phosphorylation deficits and improves respiratory function in a mouse model of Rett syndrome. J Neurosci. 2012;32:1803-1810.
-
(2012)
J Neurosci
, vol.32
, pp. 1803-1810
-
-
Schmid, D.A.1
Yang, T.2
Ogier, M.3
-
99
-
-
60549115413
-
Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice
-
Tropea D, Giacometti E, Wilson NR, et al. Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice. Proc Natl Acad Sci U S A. 2009;106:2029-2034.
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, pp. 2029-2034
-
-
Tropea, D.1
Giacometti, E.2
Wilson, N.R.3
|