-
1
-
-
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
-
2
-
-
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
-
3
-
-
0035013739
-
MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin
-
Trappe R., Laccone F., Cobilanschi J., et al. MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin. Am J Hum Genet. 2001; 68: 1093-1101.
-
(2001)
Am J Hum Genet.
, vol.68
, pp. 1093-1101
-
-
Trappe, R.1
Laccone, F.2
Cobilanschi, J.3
-
4
-
-
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
-
6
-
-
0037271866
-
No correlation between phenotype and genotype in boys with a truncating MECP2 mutation
-
Ravn K., Nielsen JB, Uldall P., Hansen FJ, Schwartz M. No correlation between phenotype and genotype in boys with a truncating MECP2 mutation. J Med Genet. 2003; 40: E5.
-
(2003)
J Med Genet.
, vol.40
-
-
Ravn, K.1
Nielsen, J.B.2
Uldall, P.3
Hansen, F.J.4
Schwartz, M.5
-
7
-
-
85047697344
-
Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy
-
Topcu M., Akyerli C., Sayi A., et al. Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy. Eur J Hum Genet. 2002; 10: 77-81.
-
(2002)
Eur J Hum Genet.
, vol.10
, pp. 77-81
-
-
Topcu, M.1
Akyerli, C.2
Sayi, A.3
-
8
-
-
0036120278
-
Rett syndrome: Clinical manifestations in males with MECP2 mutations
-
Zeev BB, Yaron Y., Schanen NC, et al. Rett syndrome: Clinical manifestations in males with MECP2 mutations. J Child Neurol. 2002; 17: 20-24.
-
(2002)
J Child Neurol.
, vol.17
, pp. 20-24
-
-
Zeev, B.B.1
Yaron, Y.2
Schanen, N.C.3
-
9
-
-
10744223795
-
MECP2 gene mutations in non-syndromic X-linked mental retardation: Phenotype-genotype correlation
-
Gomot M., Gendrot C., Verloes A., et al. MECP2 gene mutations in non-syndromic X-linked mental retardation: Phenotype-genotype correlation. Am J Med Genet A. 2003; 123: 129-139.
-
(2003)
Am J Med Genet A.
, vol.123
, pp. 129-139
-
-
Gomot, M.1
Gendrot, C.2
Verloes, A.3
-
10
-
-
0037154144
-
A Rett syndrome MECP2 mutation that causes mental retardation in men
-
Dotti MT, Orrico A., De Stefano N., et al. A Rett syndrome MECP2 mutation that causes mental retardation in men. Neurology. 2002; 58: 226-230.
-
(2002)
Neurology
, vol.58
, pp. 226-230
-
-
Dotti, M.T.1
Orrico, A.2
De Stefano, N.3
-
11
-
-
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
-
12
-
-
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
-
13
-
-
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
-
14
-
-
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
-
15
-
-
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
-
16
-
-
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. Two affected boys in a Rett syndrome family: Clinical and molecular findings. Neurology. 2000; 55: 1188-1193.
-
(2000)
Neurology
, vol.55
, pp. 1188-1193
-
-
Villard, L.1
Kpebe, A.2
Cardoso, C.3
Chelly, P.J.4
Tardieu, P.M.5
Fontes, M.6
-
17
-
-
0037542471
-
Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP2
-
Lynch SA, Whatley SD, Ramesh V., Sinha S., Ravine D. Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP2. Arch Dis Child Fetal Neonatal Ed. 2003; 88: F250-F252.
-
(2003)
Arch Dis Child Fetal Neonatal Ed.
, vol.88
-
-
Lynch, S.A.1
Whatley, S.D.2
Ramesh, V.3
Sinha, S.4
Ravine, D.5
-
18
-
-
10744229982
-
MECP2 analysis in mentally retarded patients: Implications for routine DNA diagnostics
-
Kleefstra T., Yntema HG, Nillesen WM, et al. MECP2 analysis in mentally retarded patients: Implications for routine DNA diagnostics. Eur J Hum Genet. 2004; 12: 24-28.
-
(2004)
Eur J Hum Genet.
, vol.12
, pp. 24-28
-
-
Kleefstra, T.1
Yntema, H.G.2
Nillesen, W.M.3
-
19
-
-
33646103905
-
MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients
-
Moog U., Van Roozendaal K., Smeets E., et al. MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients. Brain Dev. 2006; 28: 305-310.
-
(2006)
Brain Dev.
, vol.28
, pp. 305-310
-
-
Moog, U.1
Van Roozendaal, K.2
Smeets, E.3
-
20
-
-
0035078664
-
MECP2 mutation in non-fatal, non-progressive encephalopathy in a male
-
Imessaoudene B., Bonnefont JP, Royer G., et al. MECP2 mutation in non-fatal, non-progressive encephalopathy in a male. J Med Genet. 2001; 38: 171-174.
-
(2001)
J Med Genet.
, vol.38
, pp. 171-174
-
-
Imessaoudene, B.1
Bonnefont, J.P.2
Royer, G.3
-
21
-
-
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
-
22
-
-
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
-
23
-
-
0033365401
-
Rett syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hotspots
-
Wan M., Lee SS, Zhang X., et al. Rett syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Am J Hum Genet. 1999; 65: 1520-1529.
-
(1999)
Am J Hum Genet.
, vol.65
, pp. 1520-1529
-
-
Wan, M.1
Lee, S.S.2
Zhang, X.3
-
24
-
-
8844247168
-
Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation
-
Leuzzi V., Di Sabato ML, Zollino M., Montanaro ML, Seri S. Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation. Neurology. 2004; 63: 1968-1970.
-
(2004)
Neurology
, vol.63
, pp. 1968-1970
-
-
Leuzzi, V.1
Di Sabato, M.L.2
Zollino, M.3
Montanaro, M.L.4
Seri, S.5
-
25
-
-
0035991641
-
Low frequency of MECP2 mutations in mentally retarded males
-
Yntema HG, Kleefstra T., Oudakker AR, et al. Low frequency of MECP2 mutations in mentally retarded males. Eur J Hum Genet. 2002; 10: 487-490.
-
(2002)
Eur J Hum Genet.
, vol.10
, pp. 487-490
-
-
Yntema, H.G.1
Kleefstra, T.2
Oudakker, A.R.3
-
26
-
-
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
-
27
-
-
0036557829
-
De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia
-
Kleefstra T., Yntema HG, Oudakker AR, et al. De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia. Clin Genet. 2002; 61: 359-362.
-
(2002)
Clin Genet.
, vol.61
, pp. 359-362
-
-
Kleefstra, T.1
Yntema, H.G.2
Oudakker, A.R.3
-
28
-
-
34547229205
-
An explanation for another familial case of Rett syndrome: Maternal germline mosaicism
-
Venancio M., Santos M., Pereira SA et al. An explanation for another familial case of Rett syndrome: Maternal germline mosaicism. Eur J Hum Genet. 2002; 15: 902-904.
-
(2002)
Eur J Hum Genet.
, vol.15
, pp. 902-904
-
-
Venancio, M.1
Santos, M.2
Pereira, S.A.3
-
29
-
-
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
-
30
-
-
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
-
31
-
-
18244382110
-
In-frame deletion in MECP2 causes mild nonspecific mental retardation
-
Yntema HG, Oudakker AR, Kleefstra T., et al. In-frame deletion in MECP2 causes mild nonspecific mental retardation. Am J Med Genet. 2002; 107: 81-83.
-
(2002)
Am J Med Genet.
, vol.107
, pp. 81-83
-
-
Yntema, H.G.1
Oudakker, A.R.2
Kleefstra, T.3
-
32
-
-
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
-
33
-
-
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
-
Hagberg B., Hanefeld F., Percy A., Skjeldal O. 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. 2002; 6: 293-297.
-
(2002)
Eur J Paediatr Neurol.
, vol.6
, pp. 293-297
-
-
Hagberg, B.1
Hanefeld, F.2
Percy, A.3
Skjeldal, O.4
-
34
-
-
33646876969
-
Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR)
-
Shi J., Shibayama A., Liu Q., et al. Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR). Hum Mutat. 2005; 25: 505.
-
(2005)
Hum Mutat.
, vol.25
, pp. 505
-
-
Shi, J.1
Shibayama, A.2
Liu, Q.3
-
35
-
-
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
-
36
-
-
49149086853
-
Analysis of highly conserved regions of the 3′UTR of MECP2 gene in patients with clinical diagnosis of Rett syndrome and other disorders associated with mental retardation
-
Santos M., Yan J., Temudo T. et al. Analysis of highly conserved regions of the 3′UTR of MECP2 gene in patients with clinical diagnosis of Rett syndrome and other disorders associated with mental retardation. Dis Markers. 2008; 24: 319-324.
-
(2008)
Dis Markers.
, vol.24
, pp. 319-324
-
-
Santos, M.1
Yan, J.2
Temudo, T.3
-
37
-
-
0035197406
-
Rethinking the fate of males with mutations in the gene that causes Rett syndrome
-
Schanen C. Rethinking the fate of males with mutations in the gene that causes Rett syndrome. Brain Dev. 2001; 23 (suppl 1): S144-S146.
-
(2001)
Brain Dev.
, vol.23
, Issue.SUPPL. 1
-
-
Schanen, C.1
-
38
-
-
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
-
39
-
-
0001665187
-
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
-
Stromme P., Mangelsdorf ME, Shaw MA, et al. Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet. 2002; 30: 441-445.
-
(2002)
Nat Genet.
, vol.30
, pp. 441-445
-
-
Stromme, P.1
Mangelsdorf, M.E.2
Shaw, M.A.3
-
40
-
-
0038353760
-
Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation
-
Kalscheuer VM, Tao J., Donnelly A., et al. Disruption of the serine/ threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Am J Hum Genet. 2003; 72: 1401-1411.
-
(2003)
Am J Hum Genet.
, vol.72
, pp. 1401-1411
-
-
Kalscheuer, V.M.1
Tao, J.2
Donnelly, A.3
-
41
-
-
1642382091
-
Multiple pathways regulate MeCP2 expression in normal brain development and exhibit defects in autism-spectrum disorders
-
Samaco RC, Nagarajan RP, Braunschweig D., LaSalle JM Multiple pathways regulate MeCP2 expression in normal brain development and exhibit defects in autism-spectrum disorders. Hum Mol Genet. 2004; 13: 629-639.
-
(2004)
Hum Mol Genet.
, vol.13
, pp. 629-639
-
-
Samaco, R.C.1
Nagarajan, R.P.2
Braunschweig, D.3
LaSalle, J.M.4
-
42
-
-
0242332183
-
Derepression of BDNF transcription involves calcium-dependent phosphorylation of MeCP2
-
Chen WG, Chang Q., Lin Y., et al. Derepression of BDNF transcription involves calcium-dependent phosphorylation of MeCP2. Science. 2003; 302: 885-889.
-
(2003)
Science
, vol.302
, pp. 885-889
-
-
Chen, W.G.1
Chang, Q.2
Lin, Y.3
-
43
-
-
0242300612
-
DNA methylation-related chromatin remodeling in activity-dependent BDNF gene regulation
-
Martinowich K., Hattori D., Wu H., et al. DNA methylation-related chromatin remodeling in activity-dependent BDNF gene regulation. Science. 2003; 302: 890-893.
-
(2003)
Science
, vol.302
, pp. 890-893
-
-
Martinowich, K.1
Hattori, D.2
Wu, H.3
-
44
-
-
11244328520
-
Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome
-
Horike S., Cai S., Miyano M., Cheng JF, Kohwi-Shigematsu T. Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome. Nat Genet. 2005; 37: 31-40.
-
(2005)
Nat Genet.
, vol.37
, pp. 31-40
-
-
Horike, S.1
Cai, S.2
Miyano, M.3
Cheng, J.F.4
Kohwi-Shigematsu, T.5
|