-
1
-
-
0032830639
-
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
-
R.E. Amir, I.B. Van den Veyver, M. Wan, C.Q. Tran, U. Francke, and H.Y. Zoghbi Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 Nature Genetics 23 1999 185 188
-
(1999)
Nature Genetics
, 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
-
2
-
-
27144557355
-
Newborn screening and prenatal diagnosis for Rett syndrome: Implications for therapy
-
R.E. Amir, V. Reid Sutton, and I.B. Van den Veyver Newborn screening and prenatal diagnosis for Rett syndrome: Implications for therapy Journal of Child Neurology 20 9 2005 779 783
-
(2005)
Journal of Child Neurology
, vol.20
, Issue.9
, pp. 779-783
-
-
Amir, R.E.1
Reid Sutton, V.2
Van Den Veyver, I.B.3
-
4
-
-
67649229669
-
A population approach to understanding children's access to assistive technology
-
R.E. Benedict, and A.M. Baumgardner A population approach to understanding children's access to assistive technology Disability and Rehabilitation 31 7 2009 582 592
-
(2009)
Disability and Rehabilitation
, vol.31
, Issue.7
, pp. 582-592
-
-
Benedict, R.E.1
Baumgardner, A.M.2
-
5
-
-
49349101468
-
Physical and mental health in mothers of children with Down syndrome
-
J. Bourke, B. Ricciardo, A. Bebbington, K. Aiberti, P. Jacoby, and P. Dyke Physical and mental health in mothers of children with Down syndrome The Journal of Pediatrics 153 2008 320 326
-
(2008)
The Journal of Pediatrics
, vol.153
, pp. 320-326
-
-
Bourke, J.1
Ricciardo, B.2
Bebbington, A.3
Aiberti, K.4
Jacoby, P.5
Dyke, P.6
-
6
-
-
10944269279
-
Mothers supporting children with autistic spectrum disorders: Social support, mental health status and satisfaction with services
-
J. Bromley, D. Hare, K. Davison, and E. Emerson Mothers supporting children with autistic spectrum disorders: Social support, mental health status and satisfaction with services Autism 8 4 2004 409 422
-
(2004)
Autism
, vol.8
, Issue.4
, pp. 409-422
-
-
Bromley, J.1
Hare, D.2
Davison, K.3
Emerson, E.4
-
7
-
-
0037404490
-
Findings from a multidisciplinary clinical case series of females with Rett syndrome
-
H. Cass, S. Reilly, L. Owen, A. Wisbeach, L. Weekes, and V. Slonims Findings from a multidisciplinary clinical case series of females with Rett syndrome Developmental Medicine & Child Neurology 45 2003 325 337
-
(2003)
Developmental Medicine & Child Neurology
, vol.45
, pp. 325-337
-
-
Cass, H.1
Reilly, S.2
Owen, L.3
Wisbeach, A.4
Weekes, L.5
Slonims, V.6
-
8
-
-
0742299386
-
Respite care for children with severe intellectual disability and their families: Who needs it? Who recives it?
-
O. Chadwick, J. Beecham, N. Piroth, S. Bernard, and E. Taylor Respite care for children with severe intellectual disability and their families: Who needs it? Who recives it? Child and Adolescent Mental Health 7 2 2002 66 72
-
(2002)
Child and Adolescent Mental Health
, vol.7
, Issue.2
, pp. 66-72
-
-
Chadwick, O.1
Beecham, J.2
Piroth, N.3
Bernard, S.4
Taylor, E.5
-
9
-
-
0008119529
-
A review of child and family characteristics related to the use of respite care in developmental disability services
-
J. Chan, and J. Sigafoos A review of child and family characteristics related to the use of respite care in developmental disability services Child & Youth Care Forum 29 1 2000 27 37
-
(2000)
Child & Youth Care Forum
, vol.29
, Issue.1
, pp. 27-37
-
-
Chan, J.1
Sigafoos, J.2
-
10
-
-
0037235315
-
Describing the phenotype in Rett syndrome using a population database
-
L. Colvin, S. Fyfe, S. Leonard, T. Schiavello, C. Ellaway, and N. De Klerk Describing the phenotype in Rett syndrome using a population database Archives of Disease in Childhood 88 2003 38 43
-
(2003)
Archives of Disease in Childhood
, vol.88
, pp. 38-43
-
-
Colvin, L.1
Fyfe, S.2
Leonard, S.3
Schiavello, T.4
Ellaway, C.5
De Klerk, N.6
-
11
-
-
0036633679
-
Effects of respite care for children with developmental disabilities: Evaluation of an intervention for at risk families
-
P.S. Cowen, and D.A. Reed Effects of respite care for children with developmental disabilities: Evaluation of an intervention for at risk families Public Health Nursing 19 4 2002 272 283
-
(2002)
Public Health Nursing
, vol.19
, Issue.4
, pp. 272-283
-
-
Cowen, P.S.1
Reed, D.A.2
-
12
-
-
0742289572
-
Frequency and determinants of formal respite service use among caregivers of children with cerebral palsy in Ontario
-
G. Damiani, P. Rosenbaum, M. Swinton, and D. Russell Frequency and determinants of formal respite service use among caregivers of children with cerebral palsy in Ontario Child: Care, Health & Development 30 2004 77 86
-
(2004)
Child: Care, Health & Development
, vol.30
, pp. 77-86
-
-
Damiani, G.1
Rosenbaum, P.2
Swinton, M.3
Russell, D.4
-
14
-
-
56649098835
-
The relationship between sources and functions of social support and dimensions of child- and parent-related stress
-
M.J. Guralnick, M.A. Hammond, B. Neville, and R.T. Connor The relationship between sources and functions of social support and dimensions of child- and parent-related stress Journal of Intellectual Disability Research 52 12 2008 1138 1154
-
(2008)
Journal of Intellectual Disability Research
, vol.52
, Issue.12
, pp. 1138-1154
-
-
Guralnick, M.J.1
Hammond, M.A.2
Neville, B.3
Connor, R.T.4
-
15
-
-
0022460194
-
Rett syndrome: A suggested staging system for describing impairment profile with increasing age towards adolescence
-
B. Hagberg, and I. Witt-Engerstrom Rett syndrome: A suggested staging system for describing impairment profile with increasing age towards adolescence American Journal of Medical Genetics 24 1986 47 59
-
(1986)
American Journal of Medical Genetics
, vol.24
, pp. 47-59
-
-
Hagberg, B.1
Witt-Engerstrom, I.2
-
16
-
-
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, and 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 European Journal of Paediatric Neurology 6 2002 293 297
-
(2002)
European Journal of Paediatric Neurology
, vol.6
, pp. 293-297
-
-
Hagberg, B.1
Hanefeld, F.2
Percy, A.3
Skjeldal, O.4
-
18
-
-
0035015196
-
Guidelines for reporting clinical features in cases with MECP2 mutations
-
A.M. Kerr, Y. Nomura, D. Armstrong, M. Anvret, P.V. Belichenko, and S. Budden Guidelines for reporting clinical features in cases with MECP2 mutations Brain & Development 23 2001 208 211
-
(2001)
Brain & Development
, 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
-
19
-
-
33646010905
-
Rett syndrome in Australia: A review of the epidemiology
-
C. Laurvick, N. De Klerk, C. Bower, J. Christodoulou, D. Ravine, and C. Ellaway Rett syndrome in Australia: A review of the epidemiology The Journal of Pediatrics 2006 347 352
-
(2006)
The Journal of Pediatrics
, pp. 347-352
-
-
Laurvick, C.1
De Klerk, N.2
Bower, C.3
Christodoulou, J.4
Ravine, D.5
Ellaway, C.6
-
20
-
-
33750108540
-
Physical and mental health of mothers caring for a child with Rett syndrome
-
C. Laurvick, M.E. Msall, S. Silburn, C. Bower, N. de Klerk, and H. Leonard Physical and mental health of mothers caring for a child with Rett syndrome Pediatrics 118 4 2006 1152 1164
-
(2006)
Pediatrics
, vol.118
, Issue.4
, pp. 1152-1164
-
-
Laurvick, C.1
Msall, M.E.2
Silburn, S.3
Bower, C.4
De Klerk, N.5
Leonard, H.6
-
22
-
-
33947621533
-
Use of respite care and coping strategies among Irish families of children with intellectual disabilities
-
E. Mac Donald, E. Fitzsimons, and P. Noonan Walsh Use of respite care and coping strategies among Irish families of children with intellectual disabilities British Journal of Learning Disabilities 35 2006 62 68
-
(2006)
British Journal of Learning Disabilities
, vol.35
, pp. 62-68
-
-
Mac Donald, E.1
Fitzsimons, E.2
Noonan Walsh, P.3
-
23
-
-
33644838085
-
Support for family carers of children and young people with developmental disabilities and challenging behaviour
-
P. McGill, E. Papachristoforou, and V. Cooper Support for family carers of children and young people with developmental disabilities and challenging behaviour Child: Care, Health & Development 32 2 2006 159 165
-
(2006)
Child: Care, Health & Development
, vol.32
, Issue.2
, pp. 159-165
-
-
McGill, P.1
Papachristoforou, E.2
Cooper, V.3
-
24
-
-
20144381766
-
Health service use in Rett syndrome
-
H. Moore, H. Leonard, N. de Klerk, I. Robertson, S. Fyfe, and J. Christodoulou Health service use in Rett syndrome Journal of Child Neurology 20 1 2005
-
(2005)
Journal of Child Neurology
, vol.20
, Issue.1
-
-
Moore, H.1
Leonard, H.2
De Klerk, N.3
Robertson, I.4
Fyfe, S.5
Christodoulou, J.6
-
25
-
-
0036835332
-
The Rett Syndrome Behaviour Questionnaire (RSBQ): Refining the behavioural phenotype of Rett syndrome
-
R.H. Mount, T. Charman, R.P. Hastings, S. Reilly, and H. Cass The Rett Syndrome Behaviour Questionnaire (RSBQ): Refining the behavioural phenotype of Rett syndrome Journal of Child Psychology and Psychiatry 43 8 2002 1099 1110
-
(2002)
Journal of Child Psychology and Psychiatry
, vol.43
, Issue.8
, pp. 1099-1110
-
-
Mount, R.H.1
Charman, T.2
Hastings, R.P.3
Reilly, S.4
Cass, H.5
-
27
-
-
56649114163
-
Socioeconomic and psychological variables as risk and protective factors for parental well-being in families of children with intellectual disabilities
-
M.B. Olsson, and C.P. Hwang Socioeconomic and psychological variables as risk and protective factors for parental well-being in families of children with intellectual disabilities Journal of Intellectual Disability Research 52 12 2008 1102 1113
-
(2008)
Journal of Intellectual Disability Research
, vol.52
, Issue.12
, pp. 1102-1113
-
-
Olsson, M.B.1
Hwang, C.P.2
-
28
-
-
22544481120
-
The use and impact of assistive devices and other environmental modifcations on everyday activities and care in young children with cerebral palsy
-
S. Ostensjo, E. Brogren Carlberg, and N. Vollestad The use and impact of assistive devices and other environmental modifcations on everyday activities and care in young children with cerebral palsy Disability and Rehabilitation 27 14 2005 849 861
-
(2005)
Disability and Rehabilitation
, vol.27
, Issue.14
, pp. 849-861
-
-
Ostensjo, S.1
Brogren Carlberg, E.2
Vollestad, N.3
-
32
-
-
33847194677
-
Short breaks services for children with autistic spectrum disorders: Factors associated with service use and non-use
-
D. Preece, and R. Jordan Short breaks services for children with autistic spectrum disorders: Factors associated with service use and non-use Journal of Autism and Developmental Disorders 37 2007 374 385
-
(2007)
Journal of Autism and Developmental Disorders
, vol.37
, pp. 374-385
-
-
Preece, D.1
Jordan, R.2
-
33
-
-
27744526640
-
The health and well-being of caregiver of children with cerebral palsy
-
P. Raina, M. O'Donnell, P. Rosenbaum, J. Brehaut, S.D. Walter, and D. Russell The health and well-being of caregiver of children with cerebral palsy Pediatrics 115 6 2005 626 636
-
(2005)
Pediatrics
, vol.115
, Issue.6
, pp. 626-636
-
-
Raina, P.1
O'Donnell, M.2
Rosenbaum, P.3
Brehaut, J.4
Walter, S.D.5
Russell, D.6
-
34
-
-
35548930780
-
Community services outcomes for families and children with autism spectrum disorders
-
L.A. Ruble, and J.H. McGrew Community services outcomes for families and children with autism spectrum disorders Research in Autism Spectrum Disorders 1 2007 360 372
-
(2007)
Research in Autism Spectrum Disorders
, vol.1
, pp. 360-372
-
-
Ruble, L.A.1
McGrew, J.H.2
-
37
-
-
0038079411
-
-
Stata Corporation Texas
-
StataCorp Stata Statistical Software 2003 Stata Corporation Texas
-
(2003)
Stata Statistical Software
-
-
-
38
-
-
52649103043
-
Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type
-
T. Temudo, E. Ramos, K. Dias, C. Bardot, J. Vieira, and A. Moreira Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type Movement Disorder Society 23 10 2008 1384 1390
-
(2008)
Movement Disorder Society
, vol.23
, Issue.10
, pp. 1384-1390
-
-
Temudo, T.1
Ramos, E.2
Dias, K.3
Bardot, C.4
Vieira, J.5
Moreira, A.6
-
39
-
-
35349026047
-
Access to care for autism-related services
-
K.C. Thomas, A.R. Ellis, C. McLaurin, J. Daniels, and J.P. Morrissey Access to care for autism-related services Journal of Autism and Developmental Disordors 37 2007 1902 1912
-
(2007)
Journal of Autism and Developmental Disordors
, vol.37
, pp. 1902-1912
-
-
Thomas, K.C.1
Ellis, A.R.2
McLaurin, C.3
Daniels, J.4
Morrissey, J.P.5
-
42
-
-
33750144331
-
The use of ergonomic spoons by people with cerebral palsy: Effects on food spilling and movement kinematics
-
D. Van Roon, and B. Steenbergen The use of ergonomic spoons by people with cerebral palsy: Effects on food spilling and movement kinematics Developmental Medicine & Child Neurology 48 2006 888 891
-
(2006)
Developmental Medicine & Child Neurology
, vol.48
, pp. 888-891
-
-
Van Roon, D.1
Steenbergen, B.2
-
43
-
-
0030096228
-
A 12-Item Short-Form Health Survey: Construction of scales and preliminary tests of reliability and validity
-
J.E. Ware, M.A. Kosinski, and S.D. Keller A 12-Item Short-Form Health Survey: Construction of scales and preliminary tests of reliability and validity Medical Care 34 3 1996 220 233
-
(1996)
Medical Care
, vol.34
, Issue.3
, pp. 220-233
-
-
Ware, J.E.1
Kosinski, M.A.2
Keller, S.D.3
|