-
1
-
-
33749242599
-
CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients
-
Archer HL, Evans J, Edwards S, Colley J, Newbury-Ecob R, O'Callaghan F, Huyton M, O'Regan M, Tolmie J, Sampson J, Clarke A, Osborne J. 2006. CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. J Med Genet 43: 729-734.
-
(2006)
J Med Genet
, vol.43
, pp. 729-734
-
-
Archer, H.L.1
Evans, J.2
Edwards, S.3
Colley, J.4
Newbury-Ecob, R.5
O'Callaghan, F.6
Huyton, M.7
O'Regan, M.8
Tolmie, J.9
Sampson, J.10
Clarke, A.11
Osborne, J.12
-
2
-
-
71849094595
-
Early-onset seizure variant of Rett syndrome: Definition of the clinical diagnostic criteria
-
Artuso R, Mencarelli MA, Polli R, Sartori S, Ariani F, Pollazzon M, Marozza A, Cilio MR, Specchio N, Vigevano F, Vecchi M, Boniver C, Dalla Bernardina B, Parmeggiani A, Buoni S, Hayek G, Mari F, Renieri A, Murgia A. 2010. Early-onset seizure variant of Rett syndrome: Definition of the clinical diagnostic criteria. Brain Dev 32: 17-24.
-
(2010)
Brain Dev
, vol.32
, pp. 17-24
-
-
Artuso, R.1
Mencarelli, M.A.2
Polli, R.3
Sartori, S.4
Ariani, F.5
Pollazzon, M.6
Marozza, A.7
Cilio, M.R.8
Specchio, N.9
Vigevano, F.10
Vecchi, M.11
Boniver, C.12
Dalla Bernardina, B.13
Parmeggiani, A.14
Buoni, S.15
Hayek, G.16
Mari, F.17
Renieri, A.18
Murgia, A.19
-
3
-
-
54949090865
-
Key clinical features to identify girls with CDKL5 mutations
-
Bahi-Buisson N, Nectoux J, Rosas-Vargas H, Milh M, Boddaert N, Girard B, Cances C, Ville D, Afenjar A, Rio M, Héron D, N'guyen Morel MA, Arzimanoglou A, Philippe C, Jonveaux P, Chelly J, Bienvenu T. 2008. Key clinical features to identify girls with CDKL5 mutations. Brain 131: 2647-2661.
-
(2008)
Brain
, vol.131
, pp. 2647-2661
-
-
Bahi-Buisson, N.1
Nectoux, J.2
Rosas-Vargas, H.3
Milh, M.4
Boddaert, N.5
Girard, B.6
Cances, C.7
Ville, D.8
Afenjar, A.9
Rio, M.10
Héron, D.11
N'guyen Morel, M.A.12
Arzimanoglou, A.13
Philippe, C.14
Jonveaux, P.15
Chelly, J.16
Bienvenu, T.17
-
4
-
-
77951561039
-
Updating the profile of C-terminal MECP2 deletions in Rett syndrome
-
Bebbington A, Percy A, Christodoulou J, Ravine D, Ho G, Jacoby P, Anderson A, Pineda M, Ben Zeev B, Bahi-Buisson N, Smeets E, Leonard H. 2010. Updating the profile of C-terminal MECP2 deletions in Rett syndrome. J Med Genet 47: 242-248.
-
(2010)
J Med Genet
, vol.47
, pp. 242-248
-
-
Bebbington, A.1
Percy, A.2
Christodoulou, J.3
Ravine, D.4
Ho, G.5
Jacoby, P.6
Anderson, A.7
Pineda, M.8
Ben Zeev, B.9
Bahi-Buisson, N.10
Smeets, E.11
Leonard, H.12
-
5
-
-
77649094960
-
Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database
-
Carter P, Downs J, Bebbington A, Williams S, Jacoby P, Kaufmann WE, Leonard H. 2010. Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database. Mov Disord 25: 282-288.
-
(2010)
Mov Disord
, vol.25
, pp. 282-288
-
-
Carter, P.1
Downs, J.2
Bebbington, A.3
Williams, S.4
Jacoby, P.5
Kaufmann, W.E.6
Leonard, H.7
-
6
-
-
0037404490
-
Findings from a multidiscinary clinical case series of females with Rett syndrome
-
Cass H, Reilly S, Owen L, Wisbeach A, Weekes L, Slonims V, Wigram T, Charman T. 2003. Findings from a multidiscinary clinical case series of females with Rett syndrome. Dev Med Child Neurol 45: 325-337.
-
(2003)
Dev Med Child Neurol
, vol.45
, pp. 325-337
-
-
Cass, H.1
Reilly, S.2
Owen, L.3
Wisbeach, A.4
Weekes, L.5
Slonims, V.6
Wigram, T.7
Charman, T.8
-
7
-
-
0037235315
-
Describing the phenotype in Rett syndrome using a population database
-
Colvin L, Fyfe S, Leonard S, Schiavello T, Ellaway C, de Klerk N, Christodoulou J, Msall M, Leonard H. 2003. Describing the phenotype in Rett syndrome using a population database. Arch Dis Child 88: 38-43.
-
(2003)
Arch Dis Child
, vol.88
, pp. 38-43
-
-
Colvin, L.1
Fyfe, S.2
Leonard, S.3
Schiavello, T.4
Ellaway, C.5
de Klerk, N.6
Christodoulou, J.7
Msall, M.8
Leonard, H.9
-
8
-
-
1642482969
-
Refining the phenotype of common mutations in Rett syndrome
-
Colvin L, Leonard H, de Klerk N, Davis M, Weaving L, Williamson S, Christodoulou J. 2004. Refining the phenotype of common mutations in Rett syndrome. J Med Genet 41: 25-30.
-
(2004)
J Med Genet
, vol.41
, pp. 25-30
-
-
Colvin, L.1
Leonard, H.2
de Klerk, N.3
Davis, M.4
Weaving, L.5
Williamson, S.6
Christodoulou, J.7
-
9
-
-
59849099417
-
Gross motor profile in Rett syndrome as determined by video analysis
-
Downs JA, Bebbington A, Jacoby P, Msall ME, Mcllroy O, Fyfe S, Bahi-Buisson N, Kaufmann WE, Leonard H. 2008a. Gross motor profile in Rett syndrome as determined by video analysis. Neuropediatrics 39: 205-210.
-
(2008)
Neuropediatrics
, vol.39
, pp. 205-210
-
-
Downs, J.A.1
Bebbington, A.2
Jacoby, P.3
Msall, M.E.4
Mcllroy, O.5
Fyfe, S.6
Bahi-Buisson, N.7
Kaufmann, W.E.8
Leonard, H.9
-
10
-
-
40949158036
-
Early determinants of fractures in Rett syndrome
-
Downs J, Bebbington A, Woodhead H, Jacoby P, Jian L, Jefferson A, Leonard H. 2008b. Early determinants of fractures in Rett syndrome. Pediatrics 121: 540-546.
-
(2008)
Pediatrics
, vol.121
, pp. 540-546
-
-
Downs, J.1
Bebbington, A.2
Woodhead, H.3
Jacoby, P.4
Jian, L.5
Jefferson, A.6
Leonard, H.7
-
11
-
-
68949116178
-
Guidelines for management of scoliosis in Rett syndrome patients based on expert consensus and clinical evidence
-
Downs J, Bergman A, Carter P, Anderson A, Palmer GM, Roye D, van Bosse H, Bebbington A, Larsson EL, Smith BG, Baikie G, Fyfe S, Leonard H. 2009. Guidelines for management of scoliosis in Rett syndrome patients based on expert consensus and clinical evidence. Spine 34: E607-E617.
-
(2009)
Spine
, vol.34
-
-
Downs, J.1
Bergman, A.2
Carter, P.3
Anderson, A.4
Palmer, G.M.5
Roye, D.6
van Bosse, H.7
Bebbington, A.8
Larsson, E.L.9
Smith, B.G.10
Baikie, G.11
Fyfe, S.12
Leonard, H.13
-
14
-
-
77956477922
-
Survival with Rett syndrome: Comparing Rett's original sample with data from the Australian Rett syndrome database
-
Freilinger M, Bebbington A, Lanator I, De Klerk N, Dunkler D, Seidl R, Leonardo H, Ronen GM. 2010. Survival with Rett syndrome: Comparing Rett's original sample with data from the Australian Rett syndrome database. Dev Med Child Neurol 52: 962-965.
-
(2010)
Dev Med Child Neurol
, vol.52
, pp. 962-965
-
-
Freilinger, M.1
Bebbington, A.2
Lanator, I.3
De Klerk, N.4
Dunkler, D.5
Seidl, R.6
Leonardo, H.7
Ronen, G.M.8
-
15
-
-
77950503200
-
Epilepsy and the natural history of Rett syndrome
-
Glaze DG, Percy AK, Skinner S, Motil KJ, Neul JL, Barrish JO, Lane JB, Geerts SP, Annese F, Graham J, McNair L, Lee HS. 2010. Epilepsy and the natural history of Rett syndrome. Neurology 74: 909-912.
-
(2010)
Neurology
, vol.74
, pp. 909-912
-
-
Glaze, D.G.1
Percy, A.K.2
Skinner, S.3
Motil, K.J.4
Neul, J.L.5
Barrish, J.O.6
Lane, J.B.7
Geerts, S.P.8
Annese, F.9
Graham, J.10
McNair, L.11
Lee, H.S.12
-
16
-
-
0036270792
-
Clinical manifestations and stages of Rett Syndrome
-
Hagberg B. 2002. Clinical manifestations and stages of Rett Syndrome. Ment Retard Dev Dis Res Rew 8: 61-65.
-
(2002)
Ment Retard Dev Dis Res Rew
, vol.8
, pp. 61-65
-
-
Hagberg, B.1
-
17
-
-
27144499320
-
Rett syndrome: Long term clinical follow-up experiences over four decades
-
Hagberg B. 2005. Rett syndrome: Long term clinical follow-up experiences over four decades. J Child Neurol 20: 722-727.
-
(2005)
J Child Neurol
, vol.20
, pp. 722-727
-
-
Hagberg, B.1
-
18
-
-
49649114388
-
Aging in people with specific genetic syndromes: Rett syndrome
-
Halbach NSJ, Smeets EEJ, Schrander-Stumpel CTRM, van Schrojenstein Lantman de Valk HHJ, Maaskant MA, Curfs LMG. 2008. Aging in people with specific genetic syndromes: Rett syndrome. Am J Med Genet Part A 146A: 1925-1932.
-
(2008)
Am J Med Genet Part A
, vol.146
, pp. 1925-1932
-
-
Halbach, N.S.J.1
Smeets, E.E.J.2
Schrander-Stumpel, C.T.R.M.3
van Schrojenstein Lantman de Valk, H.H.J.4
Maaskant, M.A.5
Curfs, L.M.G.6
-
19
-
-
34547589128
-
Seizures in Rett syndrome: An overview from a one-year calendar study
-
Jian L, Nagarajan L, de Klerk N, Ravine D, Christodoulou J, Leonard H. 2007. Seizures in Rett syndrome: An overview from a one-year calendar study. Eur J Paediatr Neurol 11: 310-317.
-
(2007)
Eur J Paediatr Neurol
, vol.11
, pp. 310-317
-
-
Jian, L.1
Nagarajan, L.2
de Klerk, N.3
Ravine, D.4
Christodoulou, J.5
Leonard, H.6
-
20
-
-
0035015196
-
Guidelines for reporting clinical features in cases with MECP2 mutations
-
Kerr AM, Nomura Y, Armstrong D, Anvret M, Belichenko PV, Budden S, Cass H, Christodoulou J, Clarke A, Ellaway C, d'Esposito M, Francke U, Hulten M, Julu P, Leonard H, Naidu S, Schanen C, Webb T, Engerstrom IW, Yamashita Y, Segawa M. 2001. Guidelines for reporting clinical features in cases with MECP2 mutations. Brain Dev 23: 208-211.
-
(2001)
Brain Dev
, vol.23
, pp. 208-211
-
-
Kerr, A.M.1
Nomura, Y.2
Armstrong, D.3
Anvret, M.4
Belichenko, P.V.5
Budden, S.6
Cass, H.7
Christodoulou, J.8
Clarke, A.9
Ellaway, C.10
d'Esposito, M.11
Francke, U.12
Hulten, M.13
Julu, P.14
Leonard, H.15
Naidu, S.16
Schanen, C.17
Webb, T.18
Engerstrom, I.W.19
Yamashita, Y.20
Segawa, M.21
more..
-
21
-
-
72049107802
-
Longevity in Rett syndrome: Analysis of the North American database
-
Kirby RS, Lane JB, Childers J, Skinner SA, Annese F, Barrish JO, Glaze DG, MacLeod P, Percy AK. 2010. Longevity in Rett syndrome: Analysis of the North American database. J Pediatr 156: 135-138.
-
(2010)
J Pediatr
, vol.156
, pp. 135-138
-
-
Kirby, R.S.1
Lane, J.B.2
Childers, J.3
Skinner, S.A.4
Annese, F.5
Barrish, J.O.6
Glaze, D.G.7
MacLeod, P.8
Percy, A.K.9
-
22
-
-
33645227011
-
Managing scoliosis in a young child with Rett syndrome: A case study
-
Lotan M, Merrick J, Carmeli E. 2005. Managing scoliosis in a young child with Rett syndrome: A case study. Sci World J 5: 264-273.
-
(2005)
Sci World J
, vol.5
, pp. 264-273
-
-
Lotan, M.1
Merrick, J.2
Carmeli, E.3
-
23
-
-
77953455029
-
Aging in persons with Rett syndrome: An updated review
-
Lotan M, Merrick J, Kandel I, Morad M. 2010. Aging in persons with Rett syndrome: An updated review. Sci World J 10: 778-787.
-
(2010)
Sci World J
, vol.10
, pp. 778-787
-
-
Lotan, M.1
Merrick, J.2
Kandel, I.3
Morad, M.4
-
24
-
-
0031914434
-
Sleep dysfunction in Rett syndrome: A trial of exogenous melatonin treatment
-
McArthur AJ, Budden SS. 1998. Sleep dysfunction in Rett syndrome: A trial of exogenous melatonin treatment. Dev Med Child Neurol 40: 186-192.
-
(1998)
Dev Med Child Neurol
, vol.40
, pp. 186-192
-
-
McArthur, A.J.1
Budden, S.S.2
-
25
-
-
74549143818
-
Novel FOXG1 mutations associated with the congenital variant of Rett syndrome
-
Mencarelli MA, Spanhol-Rosseto A, Artuso R, Rondinella D, De Filippis R, Bahi-Buisson N, Nectoux J, Rubinsztajn R, Bienvenu T, Moncla A, Chabrol B, Villard L, Krumina Z, Armstrong J, Roche A, Pineda M, Gak E, Mari F, Ariani F, Renieri A. 2010. Novel FOXG1 mutations associated with the congenital variant of Rett syndrome. J Med Genet 47: 49-53.
-
(2010)
J Med Genet
, vol.47
, pp. 49-53
-
-
Mencarelli, M.A.1
Spanhol-Rosseto, A.2
Artuso, R.3
Rondinella, D.4
De Filippis, R.5
Bahi-Buisson, N.6
Nectoux, J.7
Rubinsztajn, R.8
Bienvenu, T.9
Moncla, A.10
Chabrol, B.11
Villard, L.12
Krumina, Z.13
Armstrong, J.14
Roche, A.15
Pineda, M.16
Gak, E.17
Mari, F.18
Ariani, F.19
Renieri, A.20
more..
-
26
-
-
0032969023
-
Serum melatonin kinetics and long-term melatonin treatment for sleep disorders in Rett syndrome
-
Miyamoto A, Oki J, Takahashi S, Okuno A. 1999. Serum melatonin kinetics and long-term melatonin treatment for sleep disorders in Rett syndrome. Brain Dev 21: 59-62.
-
(1999)
Brain Dev
, vol.21
, pp. 59-62
-
-
Miyamoto, A.1
Oki, J.2
Takahashi, S.3
Okuno, A.4
-
27
-
-
20144381766
-
Health service use in Rett syndrome
-
Moore H, Leonard H, de Klerk N, Robertson I, Fyfe S, Christodoulou J, Weaving L, Davis M, Mulroy S, Colvin L. 2005. Health service use in Rett syndrome. J Child Neurol 20: 42-50.
-
(2005)
J Child Neurol
, vol.20
, pp. 42-50
-
-
Moore, H.1
Leonard, H.2
de Klerk, N.3
Robertson, I.4
Fyfe, S.5
Christodoulou, J.6
Weaving, L.7
Davis, M.8
Mulroy, S.9
Colvin, L.10
-
28
-
-
55049114903
-
Bone mineral content and bone mineral density are lower in older than in younger females with Rett syndrome
-
Motil KJ, Ellis KJ, Barrish JO, Caeg E, Glaze DG. 2008. Bone mineral content and bone mineral density are lower in older than in younger females with Rett syndrome. Pediatr Res 64: 435-439.
-
(2008)
Pediatr Res
, vol.64
, pp. 435-439
-
-
Motil, K.J.1
Ellis, K.J.2
Barrish, J.O.3
Caeg, E.4
Glaze, D.G.5
-
29
-
-
68949139273
-
Gastrostomy placement improves height and weight gain in girls with Rett syndrome
-
Motil KJ, Morrissey M, Caeg E, Barrish JO, Glaze DG. 2009. Gastrostomy placement improves height and weight gain in girls with Rett syndrome. J Pediatr Gastroenterol Nutr 49: 237-242.
-
(2009)
J Pediatr Gastroenterol Nutr
, vol.49
, pp. 237-242
-
-
Motil, K.J.1
Morrissey, M.2
Caeg, E.3
Barrish, J.O.4
Glaze, D.G.5
-
30
-
-
37349125534
-
Feeding experiences and growth status in a Rett syndrome population
-
Oddy WH, Webb KG, Baikie G, Thompson SM, Reilly S, Fyfe SD, Young S, Anderson AM, Leonard H. 2007. Feeding experiences and growth status in a Rett syndrome population. J Pediatr Gastroenterol Nutr 45: 582-590.
-
(2007)
J Pediatr Gastroenterol Nutr
, vol.45
, pp. 582-590
-
-
Oddy, W.H.1
Webb, K.G.2
Baikie, G.3
Thompson, S.M.4
Reilly, S.5
Fyfe, S.D.6
Young, S.7
Anderson, A.M.8
Leonard, H.9
-
31
-
-
78649906174
-
Epilepsy in Rett syndrome: Clinical and genetic features
-
Pintaudi M, Calevo MG, Vignoli A, Parodi E, Aiello F, Baglietto MG, Hayek J, Buoni S, Renieri A, Russo S, Cogliati F, Giordano L, Canevini MP, Veneselli E. 2010. Epilepsy in Rett syndrome: Clinical and genetic features. Epilepsy Behav 19: 296-300.
-
(2010)
Epilepsy Behav
, vol.19
, pp. 296-300
-
-
Pintaudi, M.1
Calevo, M.G.2
Vignoli, A.3
Parodi, E.4
Aiello, F.5
Baglietto, M.G.6
Hayek, J.7
Buoni, S.8
Renieri, A.9
Russo, S.10
Cogliati, F.11
Giordano, L.12
Canevini, M.P.13
Veneselli, E.14
-
32
-
-
77649338952
-
Nutrition and gastrointestinal disorders in Rett syndrome: Importance of early intervention
-
Prior C, Nunes A, Rios M, Sequeiros J, Maciel P, Gomes L, Temudo T. 2010. Nutrition and gastrointestinal disorders in Rett syndrome: Importance of early intervention. An Pediatr (Barc) 72: 191-198.
-
(2010)
An Pediatr (Barc)
, vol.72
, pp. 191-198
-
-
Prior, C.1
Nunes, A.2
Rios, M.3
Sequeiros, J.4
Maciel, P.5
Gomes, L.6
Temudo, T.7
-
33
-
-
36849060323
-
MECP2 deletions and genotype-phenotype correlation in Rett syndrome
-
Scala E, Longo I, Ottimo F, Speciale C, sampieri K, Katzaki E, Artuso R, Mencarelli MA, D'Ambrogio T, Vonella G, Zappella M, Hayek G, Battaglia A, Mari F, Renieri A, Ariani F. 2007. MECP2 deletions and genotype-phenotype correlation in Rett syndrome. Am J Med Genet Part A 143A: 2775-2784.
-
(2007)
Am J Med Genet Part A
, vol.143
, pp. 2775-2784
-
-
Scala, E.1
Longo, I.2
Ottimo, F.3
Speciale, C.4
sampieri, K.5
Katzaki, E.6
Artuso, R.7
Mencarelli, M.A.8
D'Ambrogio, T.9
Vonella, G.10
Zappella, M.11
Hayek, G.12
Battaglia, A.13
Mari, F.14
Renieri, A.15
Ariani, F.16
-
34
-
-
59849090408
-
Rett syndrome and long-term disorders profile
-
Smeets EEJ, Chenault M, Curfs LMG, Schrander-Stumpel CTRM, Frijns JP. 2009. Rett syndrome and long-term disorders profile. Am J Med Genet Part A 149A: 199-205.
-
(2009)
Am J Med Genet Part A
, vol.149
, pp. 199-205
-
-
Smeets, E.E.J.1
Chenault, M.2
Curfs, L.M.G.3
Schrander-Stumpel, C.T.R.M.4
Frijns, J.P.5
-
35
-
-
78650306582
-
Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes
-
Temudo T, Santos M, Ramos E, Dias K, Vieira JP, Moreira A, Calado E, Carrilho I, Oliveira G, Levy A, Barbot C, Fonseca M, Cabral A, Cabral P, Monteiro J, Borges L, Gomes R, Mira G, Aires Pereira S, Santos M, Fernandes A, Epplen JT, Sequeiros J, Maciel P. 2011. Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes. Brain Dev 33: 69-76.
-
(2011)
Brain Dev
, vol.33
, pp. 69-76
-
-
Temudo, T.1
Santos, M.2
Ramos, E.3
Dias, K.4
Vieira, J.P.5
Moreira, A.6
Calado, E.7
Carrilho, I.8
Oliveira, G.9
Levy, A.10
Barbot, C.11
Fonseca, M.12
Cabral, A.13
Cabral, P.14
Monteiro, J.15
Borges, L.16
Gomes, R.17
Mira, G.18
Aires Pereira, S.19
Santos, M.20
Fernandes, A.21
Epplen, J.T.22
Sequeiros, J.23
Maciel, P.24
more..
-
36
-
-
69549134019
-
Evolu tion of stereotypies in adolescents and women with Rett syndrome
-
Vignoli A, La Briola F, Canevini MP. 2009. Evolu tion of stereotypies in adolescents and women with Rett syndrome. Mov Disord 24: 1379-1383.
-
(2009)
Mov Disord
, vol.24
, pp. 1379-1383
-
-
Vignoli, A.1
La Briola, F.2
Canevini, M.P.3
|