-
1
-
-
0029026402
-
Clinical delineation of Rett syndrome variants
-
B Hagberg Clinical delineation of Rett syndrome variants Neuropediatrics 26 1995 62
-
(1995)
Neuropediatrics
, vol.26
, pp. 62
-
-
Hagberg, B1
-
2
-
-
33646010905
-
Rett syndrome in Australia: a review of the epidemiology
-
CL Laurvick N de Klerk C Bower Rett syndrome in Australia: a review of the epidemiology J Pediatr 148 2006 347 352
-
(2006)
J Pediatr
, vol.148
, pp. 347-352
-
-
Laurvick, CL1
de Klerk, N2
Bower, C3
-
4
-
-
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
-
B Hagberg F Hanefeld A Percy O Skjeldal An update on clinically applicable diagnostic criteria in Rett syndrome: comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001 Eur J Paed Neurol 6 2002 293 297
-
(2002)
Eur J Paed Neurol
, vol.6
, pp. 293-297
-
-
Hagberg, B1
Hanefeld, F2
Percy, A3
Skjeldal, O4
-
5
-
-
0032830639
-
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
-
RE Amir IB Van den Veyver M Wan CQ Tran U Francke HY Zoghbi Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 Nat Genet 23 1999 185 188
-
(1999)
Nat Genet
, vol.23
, pp. 185-188
-
-
Amir, RE1
Van den Veyver, IB2
Wan, M3
Tran, CQ4
Francke, U5
Zoghbi, HY6
-
6
-
-
0037405913
-
RettBASE: the IRSA MECP2 variation database—a new mutation database in evolution
-
J Christodoulou A Grimm T Maher B Bennetts RettBASE: the IRSA MECP2 variation database—a new mutation database in evolution Hum Mutat 21 2003 466 472
-
(2003)
Hum Mutat
, vol.21
, pp. 466-472
-
-
Christodoulou, J1
Grimm, A2
Maher, T3
Bennetts, B4
-
7
-
-
1642482969
-
Refining the phenotype of common mutations in Rett syndrome
-
L Colvin H Leonard N de Klerk Refining the phenotype of common mutations in Rett syndrome J Med Genet 41 2004 25 30
-
(2004)
J Med Genet
, vol.41
, pp. 25-30
-
-
Colvin, L1
Leonard, H2
de Klerk, N3
-
8
-
-
17444440488
-
Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes
-
RE Amir IB Van den Veyver R Schultz Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes Ann Neurol 47 2000 670 679
-
(2000)
Ann Neurol
, vol.47
, pp. 670-679
-
-
Amir, RE1
Van den Veyver, IB2
Schultz, R3
-
9
-
-
18144443930
-
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location
-
JP Cheadle H Gill N Fleming 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 2000 1119 1129
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1119-1129
-
-
Cheadle, JP1
Gill, H2
Fleming, N3
-
10
-
-
0035853013
-
MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features
-
M Auranen R Vanhala M Vosman MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features Neurology 56 2001 611 617
-
(2001)
Neurology
, vol.56
, pp. 611-617
-
-
Auranen, M1
Vanhala, R2
Vosman, M3
-
11
-
-
0035849529
-
MeCP2 mutations in children with and without the phenotype of Rett syndrome
-
K Hoffbuhr JM Devaney B LaFleur MeCP2 mutations in children with and without the phenotype of Rett syndrome Neurology 56 2001 1486 1495
-
(2001)
Neurology
, vol.56
, pp. 1486-1495
-
-
Hoffbuhr, K1
Devaney, JM2
LaFleur, B3
-
12
-
-
0035196349
-
Rett syndrome in Spain: mutation analysis and clinical correlations
-
E Monros J Armstrong E Aibar P Poo I Canos M Pineda Rett syndrome in Spain: mutation analysis and clinical correlations Brain Dev 23 suppl 1 2001 S251 S253
-
(2001)
Brain Dev
, vol.23
, Issue.suppl 1
, pp. S251-S253
-
-
Monros, E1
Armstrong, J2
Aibar, E3
Poo, P4
Canos, I5
Pineda, M6
-
13
-
-
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
-
JB Nielsen KF Henriksen C Hansen A Silahtaroglu M Schwartz N Tommerup 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 2001 178 184
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 178-184
-
-
Nielsen, JB1
Henriksen, KF2
Hansen, C3
Silahtaroglu, A4
Schwartz, M5
Tommerup, N6
-
14
-
-
0035192492
-
Mutation analysis of the methyl-CpG-binding protein 2 gene (MECP2) in Rett patients with preserved speech
-
Y Yamashita I Kondo T Fukuda Mutation analysis of the methyl-CpG-binding protein 2 gene (MECP2) in Rett patients with preserved speech Brain Dev 23 suppl 1 2001 S157 S160
-
(2001)
Brain Dev
, vol.23
, Issue.suppl 1
, pp. S157-S160
-
-
Yamashita, Y1
Kondo, I2
Fukuda, T3
-
15
-
-
0036273943
-
Associations between MECP2 mutations, X-chromosome inactivation, and phenotype
-
KC Hoffbuhr LM Moses MA Jerdonek S Naidu EP Hoffman Associations between MECP2 mutations, X-chromosome inactivation, and phenotype Ment Retard Dev Disabil Res Rev 8 2002 99 105
-
(2002)
Ment Retard Dev Disabil Res Rev
, vol.8
, pp. 99-105
-
-
Hoffbuhr, KC1
Moses, LM2
Jerdonek, MA3
Naidu, S4
Hoffman, EP5
-
16
-
-
0036083275
-
Influence of mutation type and location on phenotype in 123 patients with Rett syndrome
-
P Huppke M Held F Handefeld W Engel F Laccone Influence of mutation type and location on phenotype in 123 patients with Rett syndrome Neuropediatrics 33 2002 63 68
-
(2002)
Neuropediatrics
, vol.33
, pp. 63-68
-
-
Huppke, P1
Held, M2
Handefeld, F3
Engel, W4
Laccone, F5
-
17
-
-
0042278588
-
Patients with the R133C mutation: is their phenotype different from Rett syndrome patients with other mutations?
-
H Leonard L Colvin J Christodoulou Patients with the R133C mutation: is their phenotype different from Rett syndrome patients with other mutations? J Med Genet 40 2003 e52
-
(2003)
J Med Genet
, vol.40
, pp. e52
-
-
Leonard, H1
Colvin, L2
Christodoulou, J3
-
18
-
-
0042893900
-
Rett syndrome in adolescent and adult females: clinical and molecular genetic findings
-
E Smeets E Schollen U Moog Rett syndrome in adolescent and adult females: clinical and molecular genetic findings Am J Med Genet 122A 2003 227 233
-
(2003)
Am J Med Genet
, vol.122A
, pp. 227-233
-
-
Smeets, E1
Schollen, E2
Moog, U3
-
19
-
-
0037824702
-
Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype
-
LS Weaving SL Williamson B Bennetts Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype Am J Med Genet 118A 2003 103 114
-
(2003)
Am J Med Genet
, vol.118A
, pp. 103-114
-
-
Weaving, LS1
Williamson, SL2
Bennetts, B3
-
20
-
-
1842429102
-
Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome
-
C Schanen EJ Houwink N Dorrani Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome Am J Med Genet 126A 2004 129 140
-
(2004)
Am J Med Genet
, vol.126A
, pp. 129-140
-
-
Schanen, C1
Houwink, EJ2
Dorrani, N3
-
21
-
-
27144553171
-
Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome
-
T Charman TC Neilson V Mash Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome Eur J Hum Genet 13 2005 1121 1130
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 1121-1130
-
-
Charman, T1
Neilson, TC2
Mash, V3
-
22
-
-
20044386658
-
Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms
-
T Fukuda Y Yamashita S Nagamitsu Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms Brain Dev 27 2005 211 217
-
(2005)
Brain Dev
, vol.27
, pp. 211-217
-
-
Fukuda, T1
Yamashita, Y2
Nagamitsu, S3
-
23
-
-
19944427298
-
Rett syndrome in females with CTS hot spot deletions: a disorder profile
-
E Smeets P Terhal P Casaer Rett syndrome in females with CTS hot spot deletions: a disorder profile Am J Med Genet 132 2005 117 120
-
(2005)
Am J Med Genet
, vol.132
, pp. 117-120
-
-
Smeets, E1
Terhal, P2
Casaer, P3
-
24
-
-
22344446431
-
InterRett: the application of bioinformatics to international Rett syndrome research
-
H Moore H Leonard S Fyfe N De Klerk N Leonard InterRett: the application of bioinformatics to international Rett syndrome research Ann Hum Biol 32 2005 228 236
-
(2005)
Ann Hum Biol
, vol.32
, pp. 228-236
-
-
Moore, H1
Leonard, H2
Fyfe, S3
De Klerk, N4
Leonard, N5
-
25
-
-
0242624582
-
InterRett and RettBASE: International Rett Syndrome Association databases for Rett syndrome
-
S Fyfe A Cream N de Klerk J Christodoulou H Leonard InterRett and RettBASE: International Rett Syndrome Association databases for Rett syndrome J Child Neurol 18 2003 709 713
-
(2003)
J Child Neurol
, vol.18
, pp. 709-713
-
-
Fyfe, S1
Cream, A2
de Klerk, N3
Christodoulou, J4
Leonard, H5
-
27
-
-
0037235315
-
Describing the phenotype in Rett syndrome using a population database
-
L Colvin S Fyfe S Leonard Describing the phenotype in Rett syndrome using a population database Arch Dis Child 88 2003 38 43
-
(2003)
Arch Dis Child
, vol.88
, pp. 38-43
-
-
Colvin, L1
Fyfe, S2
Leonard, S3
-
28
-
-
0032940559
-
A population based approach to the investigation of osteopenia in Rett syndrome
-
H Leonard M Thomson E Glasson A population based approach to the investigation of osteopenia in Rett syndrome Dev Med Child Neurol 41 1999 323 328
-
(1999)
Dev Med Child Neurol
, vol.41
, pp. 323-328
-
-
Leonard, H1
Thomson, M2
Glasson, E3
-
29
-
-
0035015196
-
Guidelines for reporting clinical features in cases with MECP2 mutations
-
AM Kerr Y Nomura D Armstrong Guidelines for reporting clinical features in cases with MECP2 mutations Brain Dev 23 2001 208 211
-
(2001)
Brain Dev
, vol.23
, pp. 208-211
-
-
Kerr, AM1
Nomura, Y2
Armstrong, D3
-
30
-
-
0000238915
-
An overview of hot-deck procedures
-
BL Ford An overview of hot-deck procedures WG Madow I Olkin DB Rubin Incomplete Data in Sample Surveys 1983 Academic Press New York 185 207
-
(1983)
, pp. 185-207
-
-
Ford, BL1
-
31
-
-
0001325672
-
On a distribution yielding the error functions of several well-known statistics
-
RA Fisher On a distribution yielding the error functions of several well-known statistics Proc Int Math Congress 805 1924 813
-
(1924)
Proc Int Math Congress
, vol.805
, pp. 813
-
-
Fisher, RA1
-
32
-
-
0002386913
-
On the interpretation of χ2 from contingency tables, and the calculation of P
-
2 from contingency tables, and the calculation of P J R Stat Soc 85 1922 87 94
-
(1922)
J R Stat Soc
, vol.85
, pp. 87-94
-
-
Fisher, RA1
-
33
-
-
0000993098
-
Contingency tables involving small numbers and the χ2 test
-
2 test J R Stat Soc suppl 1 1934 217 235
-
(1934)
J R Stat Soc
, Issue.suppl 1
, pp. 217-235
-
-
Yates, F1
-
34
-
-
85120121186
-
-
Stata Statistical Software [computer program]. Version 9 2005 Stata Corp College Station, TX
-
(2005)
-
-
-
35
-
-
0032542897
-
What's wrong with Bonferroni adjustments
-
TV Perneger What's wrong with Bonferroni adjustments BMJ 316 1998 1236 1238
-
(1998)
BMJ
, vol.316
, pp. 1236-1238
-
-
Perneger, TV1
-
36
-
-
27144548425
-
Predictive value of the early clinical signs in Rett disorder
-
AM Kerr RJ Prescott Predictive value of the early clinical signs in Rett disorder Brain Dev 27 suppl 1 2005 S20 S24
-
(2005)
Brain Dev
, vol.27
, Issue.suppl 1
, pp. S20-S24
-
-
Kerr, AM1
Prescott, RJ2
-
37
-
-
0035513915
-
Using the Internet to pilot a questionnaire on childhood disability in Rett syndrome
-
S Fyfe H Leonard R Gelmi A Tassell R Strack Using the Internet to pilot a questionnaire on childhood disability in Rett syndrome Child Care Health Dev 27 2001 535 543
-
(2001)
Child Care Health Dev
, vol.27
, pp. 535-543
-
-
Fyfe, S1
Leonard, H2
Gelmi, R3
Tassell, A4
Strack, R5
-
38
-
-
33847267187
-
Correlation between clinical severity in Rett syndrome patients with a p.R168X or p.T158M MECP2 mutation and the direction and degree of skewing of X chromosome inactivation
-
HL Archer J Evans H Leonard Correlation between clinical severity in Rett syndrome patients with a p.R168X or p.T158M MECP2 mutation and the direction and degree of skewing of X chromosome inactivation J Med Genet 44 2007 148 152
-
(2007)
J Med Genet
, vol.44
, pp. 148-152
-
-
Archer, HL1
Evans, J2
Leonard, H3
|