-
1
-
-
33749631198
-
The molecular pathology of Rett syndrome: synopsis and update
-
10.1385/NMM:8:4:485, 17028371
-
Akbarian S, Jiang Y, Laforet G. The molecular pathology of Rett syndrome: synopsis and update. Neuromolecular Med 2006, 8(4):485-494. 10.1385/NMM:8:4:485, 17028371.
-
(2006)
Neuromolecular Med
, vol.8
, Issue.4
, pp. 485-494
-
-
Akbarian, S.1
Jiang, Y.2
Laforet, G.3
-
2
-
-
33746356840
-
Rett syndrome: new clinical and molecular insights
-
10.1038/sj.ejhg.5201580, 16865103
-
Williamson SL, Christodoulou J. Rett syndrome: new clinical and molecular insights. Eur J Hum Genet 2006, 14(8):896-903. 10.1038/sj.ejhg.5201580, 16865103.
-
(2006)
Eur J Hum Genet
, vol.14
, Issue.8
, pp. 896-903
-
-
Williamson, S.L.1
Christodoulou, J.2
-
3
-
-
0027397622
-
Epidemiology of Rett syndrome: a population-based registry
-
Kazinetz CA, Skender ML, MacNaughton N, Almes MJ, Schultz RJ, Percy AK, Glaze DG. Epidemiology of Rett syndrome: a population-based registry. Pediatrics 1993, 91:445-50.
-
(1993)
Pediatrics
, vol.91
, pp. 445-450
-
-
Kazinetz, C.A.1
Skender, M.L.2
MacNaughton, N.3
Almes, M.J.4
Schultz, R.J.5
Percy, A.K.6
Glaze, D.G.7
-
4
-
-
0031454558
-
Rett syndrome: epidemiology and geographical variability
-
Hagberg B, Hagberg G. Rett syndrome: epidemiology and geographical variability. Eur Child Adolesc Psychiatry 1997, 6(Suppl 1):5-7.
-
(1997)
Eur Child Adolesc Psychiatry
, vol.6
, Issue.SUPPL. 1
, pp. 5-7
-
-
Hagberg, B.1
Hagberg, G.2
-
5
-
-
0023888966
-
Diagnostic criteria for Rett syndrome
-
Diagnostic Criteria Working Group
-
Trevarthen E, Moser HW, . Diagnostic Criteria Working Group Diagnostic criteria for Rett syndrome. Ann Neurol 1988, 23:425-428. Diagnostic Criteria Working Group.
-
(1988)
Ann Neurol
, vol.23
, pp. 425-428
-
-
Trevarthen, E.1
Moser, H.W.2
-
6
-
-
80052960293
-
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
-
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. 2001, Baden Baden, Germany.
-
(2001)
-
-
Hagberg, B.1
Hanefeld, F.2
Percy, A.3
Skjeldal, O.4
-
7
-
-
0034701999
-
MECP2 mutations account for most cases of typical forms of Rett syndrome
-
10.1093/hmg/9.9.1377, 10814719
-
Bienvenu T, Carrie A, de Roux N, Vinet MC, Jonveaux P, Couvert P, Villard L, Arzimanoglou A, Beldjord C, Fontes M, et al. MECP2 mutations account for most cases of typical forms of Rett syndrome. Hum Mol Genet 2000, 9(9):1377-1384. 10.1093/hmg/9.9.1377, 10814719.
-
(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
Villard, L.7
Arzimanoglou, A.8
Beldjord, C.9
Fontes, M.10
-
8
-
-
18144443930
-
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location
-
10.1093/hmg/9.7.1119, 10767337
-
Cheadle JP, Gill H, Fleming N, Maynard J, Kerr A, Leonard H, Krawczak M, Cooper DN, Lynch S, Thomas N, et al. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Hum Mol Genet 2000, 9(7):1119-1129. 10.1093/hmg/9.7.1119, 10767337.
-
(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
Krawczak, M.7
Cooper, D.N.8
Lynch, S.9
Thomas, N.10
-
9
-
-
0034088550
-
Preserved speech variant is allelic of classic Rett syndrome
-
10.1038/sj.ejhg.5200473, 10854091
-
De Bona C, Zappella M, Hayek G, Meloni I, Vitelli F, Bruttini M, Cusano R, Loffredo P, Longo I, Renieri A. Preserved speech variant is allelic of classic Rett syndrome. Eur J Hum Genet 2000, 8(5):325-330. 10.1038/sj.ejhg.5200473, 10854091.
-
(2000)
Eur J Hum Genet
, vol.8
, Issue.5
, pp. 325-330
-
-
De Bona, C.1
Zappella, M.2
Hayek, G.3
Meloni, I.4
Vitelli, F.5
Bruttini, M.6
Cusano, R.7
Loffredo, P.8
Longo, I.9
Renieri, A.10
-
10
-
-
0035889272
-
Preserved speech variants of the Rett syndrome: molecular and clinical analysis
-
10.1002/ajmg.10005, 11746022
-
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(1):14-22. 10.1002/ajmg.10005, 11746022.
-
(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
-
11
-
-
0041819548
-
Study of MECP2 gene in Rett syndrome variants and autistic girls
-
10.1002/ajmg.b.10070, 12707946
-
Zappella M, Meloni I, Longo I, Canitano R, Hayek G, Rosaia L, Mari F, Renieri A. Study of MECP2 gene in Rett syndrome variants and autistic girls. Am J Med Genet B Neuropsychiatr Genet 2003, 119B(1):102-107. 10.1002/ajmg.b.10070, 12707946.
-
(2003)
Am J Med Genet B Neuropsychiatr 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
Mari, F.7
Renieri, A.8
-
12
-
-
0035129277
-
A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients
-
10.1007/s004390000422, 11214906
-
Bourdon V, Philippe C, Labrune O, Amsallem D, Arnould C, Jonveaux P. A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients. Hum Genet 2001, 108(1):43-50. 10.1007/s004390000422, 11214906.
-
(2001)
Hum Genet
, vol.108
, Issue.1
, pp. 43-50
-
-
Bourdon, V.1
Philippe, C.2
Labrune, O.3
Amsallem, D.4
Arnould, C.5
Jonveaux, P.6
-
13
-
-
0036778361
-
MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome
-
Yaron Y, Ben Zeev B, Shomrat R, Bercovich D, Naiman T, Orr-Urtreger A. MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome. Hum Mutat 2002, 20(4):323-324.
-
(2002)
Hum Mutat
, vol.20
, Issue.4
, pp. 323-324
-
-
Yaron, Y.1
Ben Zeev, B.2
Shomrat, R.3
Bercovich, D.4
Naiman, T.5
Orr-Urtreger, A.6
-
14
-
-
3442895308
-
Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication
-
10.1002/humu.20065, 15241799
-
Ariani F, Mari F, Pescucci C, Longo I, Bruttini M, Meloni I, Hayek G, Rocchi R, Zappella M, Renieri A. Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication. Hum Mutat 2004, 24(2):172-177. 10.1002/humu.20065, 15241799.
-
(2004)
Hum Mutat
, vol.24
, Issue.2
, pp. 172-177
-
-
Ariani, F.1
Mari, F.2
Pescucci, C.3
Longo, I.4
Bruttini, M.5
Meloni, I.6
Hayek, G.7
Rocchi, R.8
Zappella, M.9
Renieri, A.10
-
15
-
-
1542514789
-
Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome
-
10.1002/humu.20004, 14974082
-
Laccone F, Junemann I, Whatley S, Morgan R, Butler R, Huppke P, Ravine D. Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome. Hum Mut 2004, 23:234-244. 10.1002/humu.20004, 14974082.
-
(2004)
Hum Mut
, vol.23
, pp. 234-244
-
-
Laccone, F.1
Junemann, I.2
Whatley, S.3
Morgan, R.4
Butler, R.5
Huppke, P.6
Ravine, D.7
-
16
-
-
1042266541
-
Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients
-
10.1089/109065703322783707, 15000811
-
Erlandson A, Samuelsson L, Hagberg B, Kyllerman M, Vujic M, Wahlström J. Multiplex ligation-dependent probe amplification (MLPA) detects large deletions in the MECP2 gene of Swedish Rett syndrome patients. Genet Test 2003, 7(4):329-32. 10.1089/109065703322783707, 15000811.
-
(2003)
Genet Test
, vol.7
, Issue.4
, pp. 329-332
-
-
Erlandson, A.1
Samuelsson, L.2
Hagberg, B.3
Kyllerman, M.4
Vujic, M.5
Wahlström, J.6
-
17
-
-
18344383716
-
Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome
-
Ravn K, Nielsen JB, Schwartz M. Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome. Clin Genet 2005, 67(6):532-533.
-
(2005)
Clin Genet
, vol.67
, Issue.6
, pp. 532-533
-
-
Ravn, K.1
Nielsen, J.B.2
Schwartz, M.3
-
18
-
-
33646683567
-
MeCP2 dysfunction in Rett syndrome and related disorders
-
10.1016/j.gde.2006.04.009, 16647848
-
Moretti P, Zoghbi HY. MeCP2 dysfunction in Rett syndrome and related disorders. Curr Opin Genet Dev 2006, 16:276-281. 10.1016/j.gde.2006.04.009, 16647848.
-
(2006)
Curr Opin Genet Dev
, vol.16
, pp. 276-281
-
-
Moretti, P.1
Zoghbi, H.Y.2
-
19
-
-
0023152148
-
A monozygotic twin pair with Rett syndrome
-
Tariverdian G, Kantner G, Vogel F. A monozygotic twin pair with Rett syndrome. Hum Genet 1987, 75(1):88-90.
-
(1987)
Hum Genet
, vol.75
, Issue.1
, pp. 88-90
-
-
Tariverdian, G.1
Kantner, G.2
Vogel, F.3
-
20
-
-
0023797483
-
Genetic aspects of Rett syndrome
-
Zoghbi H. Genetic aspects of Rett syndrome. J Child Neurol Suppl 1988, 3:576-s78.
-
(1988)
J Child Neurol Suppl
, vol.3
-
-
Zoghbi, H.1
-
21
-
-
0023580403
-
A set of monozygotic twins with Rett syndrome
-
Coleman M, Naidu S, Murphy M, Pines M, Bias W. A set of monozygotic twins with Rett syndrome. Brain Dev 1987, 9:475-478.
-
(1987)
Brain Dev
, vol.9
, pp. 475-478
-
-
Coleman, M.1
Naidu, S.2
Murphy, M.3
Pines, M.4
Bias, W.5
-
22
-
-
0026345201
-
Difference in Early Development of Presumed Monozygotic Twins With Rett Syndrome
-
10.1002/ajmg.1320390411, 1715129
-
Bruck I, Philippart M, Giraldi D, Antoniuk S. Difference in Early Development of Presumed Monozygotic Twins With Rett Syndrome. Am J Med Genet 1991, 39:415-417. 10.1002/ajmg.1320390411, 1715129.
-
(1991)
Am J Med Genet
, vol.39
, pp. 415-417
-
-
Bruck, I.1
Philippart, M.2
Giraldi, D.3
Antoniuk, S.4
-
23
-
-
0031444105
-
Japanese monozygotic twins with Rett syndrome
-
10.1016/S0387-7604(97)00084-3, 9440804
-
Ogawa A, Mitsudome A, Yasumoto S, Matsumoto T. Japanese monozygotic twins with Rett syndrome. Brain Dev 1997, 19:568-570. 10.1016/S0387-7604(97)00084-3, 9440804.
-
(1997)
Brain Dev
, vol.19
, pp. 568-570
-
-
Ogawa, A.1
Mitsudome, A.2
Yasumoto, S.3
Matsumoto, T.4
-
24
-
-
0035192429
-
The role of different X-inactivation pattern on the variable clinical phenotype with Rett syndrome
-
Ishii T, Makita Y, Ogawa A, Amamiya S, Yamamoto M, Miyamoto A, Oki J. The role of different X-inactivation pattern on the variable clinical phenotype with Rett syndrome. Brain Dev 2001, 23(Suppl 1):S161-4.
-
(2001)
Brain Dev
, vol.23
, Issue.SUPPL. 1
-
-
Ishii, T.1
Makita, Y.2
Ogawa, A.3
Amamiya, S.4
Yamamoto, M.5
Miyamoto, A.6
Oki, J.7
-
25
-
-
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
-
10.1053/ejpn.2002.0612, 12378695
-
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(5):293-7. 10.1053/ejpn.2002.0612, 12378695.
-
(2002)
Eur J Paediatr Neurol
, vol.6
, Issue.5
, pp. 293-297
-
-
Hagberg, B.1
Hanefeld, F.2
Percy, A.3
Skjeldal, O.4
-
26
-
-
0035710746
-
Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method
-
10.1006/meth.2001.1262, 11846609
-
Livak KJ, Schmittgen TD. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods 2001, 25(4):402-408. 10.1006/meth.2001.1262, 11846609.
-
(2001)
Methods
, vol.25
, Issue.4
, pp. 402-408
-
-
Livak, K.J.1
Schmittgen, T.D.2
-
27
-
-
0034931813
-
Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease
-
10.1136/jmg.38.7.435, 1757181, 11432961
-
Villard L, Levy N, Xiang F, Kpebe A, Labelle V, Chevillard C, Zhang Z, Schwartz CE, Tardieu M, Chelly J, Anvret M, Fontes M. Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease. J Med Genet 2001, 38:435-442. 10.1136/jmg.38.7.435, 1757181, 11432961.
-
(2001)
J Med Genet
, vol.38
, pp. 435-442
-
-
Villard, L.1
Levy, N.2
Xiang, F.3
Kpebe, A.4
Labelle, V.5
Chevillard, C.6
Zhang, Z.7
Schwartz, C.E.8
Tardieu, M.9
Chelly, J.10
Anvret, M.11
Fontes, M.12
-
28
-
-
20944440198
-
Germline mosaicism in Rett syndrome identified by prenatal diagnosis
-
10.1111/j.1399-0004.2005.00397.x, 15691364
-
Mari F, Caselli R, Russo S, Cogliati F, Ariani F, Longo I, Bruttini M, Meloni I, Pescucci C, Schurfeld K, Toti P, Tassini M, Larizza L, Hayek G, Zappella M, Renieri A. Germline mosaicism in Rett syndrome identified by prenatal diagnosis. Clin Genet 2005, 67(3):258-60. 10.1111/j.1399-0004.2005.00397.x, 15691364.
-
(2005)
Clin Genet
, vol.67
, Issue.3
, pp. 258-260
-
-
Mari, F.1
Caselli, R.2
Russo, S.3
Cogliati, F.4
Ariani, F.5
Longo, I.6
Bruttini, M.7
Meloni, I.8
Pescucci, C.9
Schurfeld, K.10
Toti, P.11
Tassini, M.12
Larizza, L.13
Hayek, G.14
Zappella, M.15
Renieri, A.16
-
29
-
-
34547229205
-
An explanation for another familial case of Rett syndrome: maternal germline mosaicism
-
10.1038/sj.ejhg.5201835, 17440498
-
Venâncio M, Santos M, Pereira SA, Maciel P, Saraiva JM. An explanation for another familial case of Rett syndrome: maternal germline mosaicism. Eur J Hum Genet 2007, 15(8):902-4. 10.1038/sj.ejhg.5201835, 17440498.
-
(2007)
Eur J Hum Genet
, vol.15
, Issue.8
, pp. 902-904
-
-
Venâncio, M.1
Santos, M.2
Pereira, S.A.3
Maciel, P.4
Saraiva, J.M.5
-
30
-
-
0027480909
-
X chromosome linkage studies in familial rett syndrome
-
Curtis AR, Headland S, Lindsay S, Thomas NS, Boye E, Kamakari S, Roustan P, Anvret M, Wahlstrom J, McCarthy G, et al. X chromosome linkage studies in familial rett syndrome. Hum Genet 1993, 90(5):551-5.
-
(1993)
Hum Genet
, vol.90
, Issue.5
, pp. 551-555
-
-
Curtis, A.R.1
Headland, S.2
Lindsay, S.3
Thomas, N.S.4
Boye, E.5
Kamakari, S.6
Roustan, P.7
Anvret, M.8
Wahlstrom, J.9
McCarthy, G.10
-
31
-
-
0030876388
-
A New Rett Syndrome Family Consistent with X-Linked Inheritance Expands the X Chromosome Exclusion Map
-
10.1086/515525, 1715972, 9326329
-
Schanen NC, Dahle EJR, Capozzoli F, Holm VA, Zoghbi HY, Francke U. A New Rett Syndrome Family Consistent with X-Linked Inheritance Expands the X Chromosome Exclusion Map. Am J Hum Genet 1997, 61:634-641. 10.1086/515525, 1715972, 9326329.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 634-641
-
-
Schanen, N.C.1
Dahle, E.J.R.2
Capozzoli, F.3
Holm, V.A.4
Zoghbi, H.Y.5
Francke, U.6
-
32
-
-
0032231652
-
Rett syndrome: confirmation of X-linked dominant inheritance, and localization of the gene to Xq28
-
10.1086/302105, 1377565, 9792883
-
Sirianni N, Naidu S, Pereira J, Pillotto RF, Hoffman EP. Rett syndrome: confirmation of X-linked dominant inheritance, and localization of the gene to Xq28. Am J Hum Genet 1998, 63(5):1552-8. 10.1086/302105, 1377565, 9792883.
-
(1998)
Am J Hum Genet
, vol.63
, Issue.5
, pp. 1552-1558
-
-
Sirianni, N.1
Naidu, S.2
Pereira, J.3
Pillotto, R.F.4
Hoffman, E.P.5
-
33
-
-
0034711147
-
Two affected boys in a Rett syndrome family
-
Villard L, Kpebe A, Cardoso C, Chelly PJ, Tardieu PM, Fontes M. Two affected boys in a Rett syndrome family. Neurology 2000, 24;55(8):1188-93.
-
(2000)
Neurology
, vol.24-55
, 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
-
34
-
-
0035080006
-
Expression and penetrance of the hereditary pancreatitis phenotype in monozygotic twins
-
10.1136/gut.48.4.542, 1728254, 11247900
-
Amann ST, Gates LK, Aston CE, Pandya A, Whitcomb DC. Expression and penetrance of the hereditary pancreatitis phenotype in monozygotic twins. Gut 2001, 48:542-547. 10.1136/gut.48.4.542, 1728254, 11247900.
-
(2001)
Gut
, vol.48
, pp. 542-547
-
-
Amann, S.T.1
Gates, L.K.2
Aston, C.E.3
Pandya, A.4
Whitcomb, D.C.5
-
35
-
-
0035080490
-
Parental origin of de novo MECP2 mutations in Rett syndrome
-
10.1038/sj.ejhg.5200618, 11313764
-
Girard M, Couvert P, Carrie A, Tardieu M, Chelly J, Beldjord C, Bienvenu T. Parental origin of de novo MECP2 mutations in Rett syndrome. Eur J Hum Genet 2001, 9:231-236. 10.1038/sj.ejhg.5200618, 11313764.
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 231-236
-
-
Girard, M.1
Couvert, P.2
Carrie, A.3
Tardieu, M.4
Chelly, J.5
Beldjord, C.6
Bienvenu, T.7
-
36
-
-
0035013739
-
MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin
-
10.1086/320109, 1226090, 11309679
-
Trappe R, Laccone F, Cobilanschi J, Meins M, Huppke P, Hanefeld FE. MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin. Am J Hum Genet 2001, 68:1093-1101. 10.1086/320109, 1226090, 11309679.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 1093-1101
-
-
Trappe, R.1
Laccone, F.2
Cobilanschi, J.3
Meins, M.4
Huppke, P.5
Hanefeld, F.E.6
|