-
1
-
-
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
-
-
0033646967
-
Rett syndrome: Methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations
-
Amir RE, Zoghbi HY. Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations. Am J Med Genet. 2000;97:147-152
-
(2000)
Am J Med Genet
, vol.97
, pp. 147-152
-
-
Amir, R.E.1
Zoghbi, H.Y.2
-
4
-
-
18144443930
-
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: Correlation of disease severity with mutation type and location
-
Cheadle JP, Gill H, Fleming 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;9:1119-1129
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1119-1129
-
-
Cheadle, J.P.1
Gill, H.2
Fleming, N.3
-
5
-
-
0037235315
-
Describing the phenotype in Rett syndrome using a population database
-
Colvin L, Fyfe S, Leonard S, et al. Describing the phenotype in Rett syndrome using a population database. Arch Dis Child. 2003;88:38-43
-
(2003)
Arch Dis Child
, vol.88
, pp. 38-43
-
-
Colvin, L.1
Fyfe, S.2
Leonard, S.3
-
6
-
-
1642482969
-
Refining the phenotype of common mutations in Rett syndrome
-
Colvin L, Leonard H, de Klerk N, et al. Refining the phenotype of common mutations in Rett syndrome. J Med Genet. 2004;41:25-30
-
(2004)
J Med Genet
, vol.41
, pp. 25-30
-
-
Colvin, L.1
Leonard, H.2
de Klerk, N.3
-
7
-
-
0036273943
-
Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype
-
Hoffbuhr KC, Moses LM, Jerdonek MA, Naidu S, Hoffman EP. Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype. Ment Retard Dev Disabil Res Rev. 2002;8:99-105
-
(2002)
Ment Retard Dev Disabil Res Rev
, vol.8
, pp. 99-105
-
-
Hoffbuhr, K.C.1
Moses, L.M.2
Jerdonek, M.A.3
Naidu, S.4
Hoffman, E.P.5
-
8
-
-
0038354500
-
The spectrum of phenotypes in females with Rett syndrome
-
Huppke P, Held M, Laccone F, Hanefeld F. The spectrum of phenotypes in females with Rett syndrome. Brain Dev. 2003;25:346-351
-
(2003)
Brain Dev
, vol.25
, pp. 346-351
-
-
Huppke, P.1
Held, M.2
Laccone, F.3
Hanefeld, F.4
-
9
-
-
0034701904
-
Rett syndrome: Analysis of MECP2 and clinical characterization of 31 patients
-
Huppke P, Laccone F, Kramer N, Engel W, Hanefeld F. Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. Hum Mol Genet. 2000;9:1369-1375
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1369-1375
-
-
Huppke, P.1
Laccone, F.2
Kramer, N.3
Engel, W.4
Hanefeld, F.5
-
10
-
-
0042278588
-
Patients with the R133C mutation: Is their phenotype different from Rett syndrome patients with other mutations?
-
Leonard H, Colvin L, Christodoulou J, et al. Patients with the R133C mutation: is their phenotype different from Rett syndrome patients with other mutations? J Med Genet. 2003;40:e52
-
(2003)
J Med Genet
, vol.40
-
-
Leonard, H.1
Colvin, L.2
Christodoulou, J.3
-
11
-
-
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
-
12
-
-
0032940559
-
A population-based approach to the investigation of osteopenia in Rett syndrome
-
Leonard H, Thomson MR, Glasson EJ, et al. A population-based approach to the investigation of osteopenia in Rett syndrome. Dev Med Child Neurol. 1999;41:323-328
-
(1999)
Dev Med Child Neurol
, vol.41
, pp. 323-328
-
-
Leonard, H.1
Thomson, M.R.2
Glasson, E.J.3
-
13
-
-
33646010905
-
Rett syndrome in Australia: A review of the epidemiology
-
Laurvick C, de Klerk N, Bower C, et al. Rett syndrome in Australia: a review of the epidemiology. J Pediatr. 2006;148:347-352
-
(2006)
J Pediatr
, vol.148
, pp. 347-352
-
-
Laurvick, C.1
de Klerk, N.2
Bower, C.3
-
15
-
-
0025907661
-
Children with chronic illness: Family and parent demographic characteristics and psychosocial adjustment
-
Cadman D, Rosenbaum P, Boyle M, Offord DR. Children with chronic illness: family and parent demographic characteristics and psychosocial adjustment. Pediatrics. 1991;87:884-889
-
(1991)
Pediatrics
, vol.87
, pp. 884-889
-
-
Cadman, D.1
Rosenbaum, P.2
Boyle, M.3
Offord, D.R.4
-
16
-
-
0027227676
-
Response to the presence of a child with disabilities: Parental stress and family functioning over time
-
Dyson LL. Response to the presence of a child with disabilities: parental stress and family functioning over time. Am J Ment Retard. 1993;98:207-218
-
(1993)
Am J Ment Retard
, vol.98
, pp. 207-218
-
-
Dyson, L.L.1
-
17
-
-
0019432977
-
Psychosocial assets of parents of handicapped and nonhandicapped children
-
Friedrich WN, Friedrich WL. Psychosocial assets of parents of handicapped and nonhandicapped children. Am J Ment Defic. 1981;85:551-553
-
(1981)
Am J Ment Defic
, vol.85
, pp. 551-553
-
-
Friedrich, W.N.1
Friedrich, W.L.2
-
18
-
-
0023126667
-
Predictors of stress in parents of developmentally disabled children
-
McKinney B, Peterson RA. Predictors of stress in parents of developmentally disabled children. J Pediatr Psychol. 1987;12:133-150
-
(1987)
J Pediatr Psychol
, vol.12
, pp. 133-150
-
-
McKinney, B.1
Peterson, R.A.2
-
21
-
-
0028009641
-
Resources and strategies: How parents cope with the care of a disabled child
-
Beresford BA. Resources and strategies: how parents cope with the care of a disabled child. J Child Psychol Psychiatry. 1994;35:171-209
-
(1994)
J Child Psychol Psychiatry
, vol.35
, pp. 171-209
-
-
Beresford, B.A.1
-
22
-
-
27744526640
-
The health and well-being of caregivers of children with cerebral palsy
-
Available at
-
Raina P, O'Donnell M, Rosenbaum P, et al. The health and well-being of caregivers of children with cerebral palsy. Pediatrics. 2005;115(6). Available at: www.pediatrics.org/cgi/content/full/115/6/e626
-
(2005)
Pediatrics
, vol.115
, Issue.6
-
-
Raina, P.1
O'Donnell, M.2
Rosenbaum, P.3
-
23
-
-
0027648330
-
Caring for chronically ill children at home: Factors that influence parents' coping
-
Ray LD, Ritchie JA. Caring for chronically ill children at home: factors that influence parents' coping. J Pediatr Nurs. 1993;8:217-225
-
(1993)
J Pediatr Nurs
, vol.8
, pp. 217-225
-
-
Ray, L.D.1
Ritchie, J.A.2
-
24
-
-
0026322254
-
Child characteristics, family demographics and family processes: Their effects on the stress experienced by families of children with disabilities
-
Boyce GC, Behl D, Mortensen L, Akers J. Child characteristics, family demographics and family processes: their effects on the stress experienced by families of children with disabilities. Couns Psychol Q. 1991;4:273-288
-
(1991)
Couns Psychol Q
, vol.4
, pp. 273-288
-
-
Boyce, G.C.1
Behl, D.2
Mortensen, L.3
Akers, J.4
-
25
-
-
0032949033
-
Family-centered caregiving and well-being of parents of children with disabilities: Linking process with outcome
-
King G, King S, Rosenbaum P, Goffin R. Family-centered caregiving and well-being of parents of children with disabilities: linking process with outcome. J Pediatr Psychol. 1999;24:41-53
-
(1999)
J Pediatr Psychol
, vol.24
, pp. 41-53
-
-
King, G.1
King, S.2
Rosenbaum, P.3
Goffin, R.4
-
27
-
-
0026908510
-
The influence of a child's disability on mother's role functioning and psychological well-being
-
Waddington SR, Busch-Rossnagel NA. The influence of a child's disability on mother's role functioning and psychological well-being. Genet Soc Gen Psychol Monogr. 1992;118:293-311
-
(1992)
Genet Soc Gen Psychol Monogr
, vol.118
, pp. 293-311
-
-
Waddington, S.R.1
Busch-Rossnagel, N.A.2
-
28
-
-
0022658375
-
Mediating influences of social support: Personal, family, and child outcomes
-
Dunst CJ, Trivette CM, Cross AH. Mediating influences of social support: personal, family, and child outcomes. Am J Ment Defic. 1986;90:403-417
-
(1986)
Am J Ment Defic
, vol.90
, pp. 403-417
-
-
Dunst, C.J.1
Trivette, C.M.2
Cross, A.H.3
-
29
-
-
84963254827
-
Mothers' and fathers' coping with chronic childhood disease
-
Eiser C, Havermans T. Mothers' and fathers' coping with chronic childhood disease. Psychol Health. 1992;7:249-257
-
(1992)
Psychol Health
, vol.7
, pp. 249-257
-
-
Eiser, C.1
Havermans, T.2
-
30
-
-
84963179212
-
Stress and social support in fathers and mothers of young children with and without disabilities
-
Hadadian A. Stress and social support in fathers and mothers of young children with and without disabilities. Early Educ Dev. 1994;5:226-235
-
(1994)
Early Educ Dev
, vol.5
, pp. 226-235
-
-
Hadadian, A.1
-
31
-
-
0037383660
-
-
Manuel J, Naughton MJ, Balkrishnan R, Paterson Smith B, Koman LA. Stress and adaptation in mothers of children with cerebral palsy [published correction appears in J Pediatr Psychol. 2003;28:following page 373]. J Pediatr Psychol. 2003;28:197-201
-
Manuel J, Naughton MJ, Balkrishnan R, Paterson Smith B, Koman LA. Stress and adaptation in mothers of children with cerebral palsy [published correction appears in J Pediatr Psychol. 2003;28:following page 373]. J Pediatr Psychol. 2003;28:197-201
-
-
-
-
32
-
-
0024443773
-
Stress and coping among parents of handicapped children: A multidimensional approach
-
Frey KS, Greenberg MT, Fewell RR. Stress and coping among parents of handicapped children: a multidimensional approach. Am J Ment Retard. 1989;94:240-249
-
(1989)
Am J Ment Retard
, vol.94
, pp. 240-249
-
-
Frey, K.S.1
Greenberg, M.T.2
Fewell, R.R.3
-
33
-
-
0020607416
-
Influence of selected child characteristics on stress in families of handicapped infants
-
Beckman PJ. Influence of selected child characteristics on stress in families of handicapped infants. Am J Ment Defic. 1983;88:150-156
-
(1983)
Am J Ment Defic
, vol.88
, pp. 150-156
-
-
Beckman, P.J.1
-
34
-
-
0025633853
-
Child functional independence and maternal psychosocial stress as risk factors threatening adaptation in mothers of physically or sensorially handicapped children
-
Wallander JL, Pitt LC, Mellins CA. Child functional independence and maternal psychosocial stress as risk factors threatening adaptation in mothers of physically or sensorially handicapped children. J Consult Clin Psychol. 1990;58:818-824
-
(1990)
J Consult Clin Psychol
, vol.58
, pp. 818-824
-
-
Wallander, J.L.1
Pitt, L.C.2
Mellins, C.A.3
-
35
-
-
0018568992
-
Predictors of the coping behavior of mothers of handicapped children
-
Friedrich WN. Predictors of the coping behavior of mothers of handicapped children. J Consult Clin Psychol. 1979;47:1140-1141
-
(1979)
J Consult Clin Psychol
, vol.47
, pp. 1140-1141
-
-
Friedrich, W.N.1
-
36
-
-
0025854816
-
Families of young children with handicaps: Parental stress and family functioning
-
Dyson LL. Families of young children with handicaps: parental stress and family functioning. Am J Ment Retard. 1991;95:623-629
-
(1991)
Am J Ment Retard
, vol.95
, pp. 623-629
-
-
Dyson, L.L.1
-
37
-
-
0027396094
-
Risk and resistance factors in the adaptation of parents of children with severe physical disability
-
Sloper P, Turner S. Risk and resistance factors in the adaptation of parents of children with severe physical disability. J Child Psychol Psychiatry. 1993;34:167-188
-
(1993)
J Child Psychol Psychiatry
, vol.34
, pp. 167-188
-
-
Sloper, P.1
Turner, S.2
-
38
-
-
0005841971
-
-
masters thesis, Perth, Western Australia: University of western Australia, Department of Public Health;
-
Leonard H. Rett Syndrome in Australia [masters thesis]. Perth, Western Australia: University of western Australia, Department of Public Health; 1996
-
(1996)
Rett Syndrome in Australia
-
-
Leonard, H.1
-
40
-
-
0023888966
-
Diagnostic criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work Group
-
Diagnostic criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work Group. Ann Neurol. 1988;23:425-428
-
(1988)
Ann Neurol
, vol.23
, pp. 425-428
-
-
-
41
-
-
0029026402
-
Clinical delineation of Rett syndrome variants
-
Hagberg B. Clinical delineation of Rett syndrome variants. Neuropediatrics. 1995;26:62
-
(1995)
Neuropediatrics
, vol.26
, pp. 62
-
-
Hagberg, B.1
-
42
-
-
0030635797
-
Evaluating family-centred service using a measure of parents' perceptions
-
King GA, Rosenbaum PL, King SM. Evaluating family-centred service using a measure of parents' perceptions. Child Care Health Dev. 1997;23:47-62
-
(1997)
Child Care Health Dev
, vol.23
, pp. 47-62
-
-
King, G.A.1
Rosenbaum, P.L.2
King, S.M.3
-
43
-
-
33847776351
-
Rett syndrome: Symptom severity index questionnaire development
-
PhD thesis, Sydney, New South Wales, Australia: Department of Paediatrics and Child Health, University of Sydney;
-
Ellaway C. Rett syndrome: symptom severity index questionnaire development. In: Rett Syndrome Diagnositic Strategies and Therapeutic Interventions [PhD thesis]. Sydney, New South Wales, Australia: Department of Paediatrics and Child Health, University of Sydney; 2001
-
(2001)
Rett Syndrome Diagnositic Strategies and Therapeutic Interventions
-
-
Ellaway, C.1
-
44
-
-
0028290238
-
WeeFIM: Normative sample of an instrument for tracking functional independence in children
-
Msall ME, DiGaudio K, Duffy LC, LaForest S, Braun S, Granger CV. WeeFIM: normative sample of an instrument for tracking functional independence in children. Clin Pediatr (Phila). 1994;33:431-438
-
(1994)
Clin Pediatr (Phila)
, vol.33
, pp. 431-438
-
-
Msall, M.E.1
DiGaudio, K.2
Duffy, L.C.3
LaForest, S.4
Braun, S.5
Granger, C.V.6
-
45
-
-
0036271050
-
Functional status of school-aged children with Down syndrome
-
Leonard S, Msall M, Bower C, Tremont M, Leonard H. Functional status of school-aged children with Down syndrome. J Paediatr Child Health. 2002;38:160-165
-
(2002)
J Paediatr Child Health
, vol.38
, pp. 160-165
-
-
Leonard, S.1
Msall, M.2
Bower, C.3
Tremont, M.4
Leonard, H.5
-
46
-
-
0036835332
-
The Rett Syndrome Behaviour Questionnaire (RSBQ): Refining the behavioural phenotype of Rett syndrome
-
Mount RH, Charman T, Hastings RP, Reilly S, Cass H. The Rett Syndrome Behaviour Questionnaire (RSBQ): refining the behavioural phenotype of Rett syndrome. J Child Psychol Psychiatry. 2002;43:1099-1110
-
(2002)
J Child Psychol Psychiatry
, vol.43
, pp. 1099-1110
-
-
Mount, R.H.1
Charman, T.2
Hastings, R.P.3
Reilly, S.4
Cass, H.5
-
49
-
-
0023132532
-
Measuring the adequacy of resources in households with young children
-
Dunst CJ, Leet HE. Measuring the adequacy of resources in households with young children. Child Care Health Dev. 1987;13:111-125
-
(1987)
Child Care Health Dev
, vol.13
, pp. 111-125
-
-
Dunst, C.J.1
Leet, H.E.2
-
50
-
-
33745788767
-
Preliminary validation of the abbreviated Spanier Dyadic Adjustment scale: Some psychometric data regarding a screening test of marital adjustment
-
Sharpley C, Rogers H. Preliminary validation of the abbreviated Spanier Dyadic Adjustment scale: some psychometric data regarding a screening test of marital adjustment. Educ Psychol Meas. 1984;44:1045-1049
-
(1984)
Educ Psychol Meas
, vol.44
, pp. 1045-1049
-
-
Sharpley, C.1
Rogers, H.2
-
54
-
-
33847789491
-
-
Commonwealth Department of Health and Aged Care, Revised ed. Canberra, Australia: Commonwealth Department of Health and Aged Care; October, Occasional paper new series
-
Commonwealth Department of Health and Aged Care. Measuring Remoteness: Accessibility/Remoteness Index of Australia (ARIA). Revised ed. Canberra, Australia: Commonwealth Department of Health and Aged Care; October 2001. Occasional paper new series: No. 14
-
(2001)
Measuring Remoteness: Accessibility/Remoteness Index of Australia (ARIA)
, Issue.14
-
-
-
55
-
-
33847768814
-
-
Australian Bureau of Statistics. Census of Population and Housing: Socio-Economic Indexes for Areas (SEIFA) - Australia 2001. Canberra, Australia: Australian Bureau of Statistics; 2004. ABS catalogue No. 2039.0.55.001
-
Australian Bureau of Statistics. Census of Population and Housing: Socio-Economic Indexes for Areas (SEIFA) - Australia 2001. Canberra, Australia: Australian Bureau of Statistics; 2004. ABS catalogue No. 2039.0.55.001
-
-
-
-
56
-
-
0032542897
-
What's wrong with Bonferroni adjustments
-
Perneger T. What's wrong with Bonferroni adjustments. BMJ. 1998;316:1236-1238
-
(1998)
BMJ
, vol.316
, pp. 1236-1238
-
-
Perneger, T.1
-
57
-
-
0039531299
-
-
Boston, MA: Little, Brown & Company;
-
Rothman K. Modern Epidemiology. Boston, MA: Little, Brown & Company; 1986
-
(1986)
Modern Epidemiology
-
-
Rothman, K.1
-
58
-
-
33847777512
-
-
Stata Statistical Software [computer software, Version 9. College Station, TX: Stata Corp; 2005
-
Stata Statistical Software [computer software]. Version 9. College Station, TX: Stata Corp; 2005
-
-
-
-
59
-
-
9144224014
-
-
September, Available at:, Accessed August 16
-
Taylor A, Daly A, d'Espaignet E, Wilson D, Espheter J, Measey MA. Collaborative health and wellbeing CATI survey of adults living in Western Australia, Northern Territory and South Australia: report I - summary of results by state/territory September 2002. Available at: www.health.sa.gov.au/PEHS/ PROS/health-WA-NT-SA-report1.pdf. Accessed August 16, 2006
-
(2002)
Collaborative health and wellbeing CATI survey of adults living in Western Australia, Northern Territory and South Australia: Report I - summary of results by state/territory
-
-
Taylor, A.1
Daly, A.2
d'Espaignet, E.3
Wilson, D.4
Espheter, J.5
Measey, M.A.6
-
60
-
-
32244435839
-
The association between behavior and genotype in Rett syndrome using the Australian Rett syndrome database
-
Robertson L, Hall SE, Jacoby P, Ellaway C, Klerk N, Leonard H. The association between behavior and genotype in Rett syndrome using the Australian Rett syndrome database. Am J Med Genet B Neuropsychiatr Genet. 2006;141:177-183
-
(2006)
Am J Med Genet B Neuropsychiatr Genet
, vol.141
, pp. 177-183
-
-
Robertson, L.1
Hall, S.E.2
Jacoby, P.3
Ellaway, C.4
Klerk, N.5
Leonard, H.6
-
62
-
-
0035409467
-
Characterisation of breathing and associated central autonomic dysfunction in the Rett disorder
-
Julu PO, Kerr AM, Apartopoulos F, et al. Characterisation of breathing and associated central autonomic dysfunction in the Rett disorder. Arch Dis Child. 2001;85:29-37
-
(2001)
Arch Dis Child
, vol.85
, pp. 29-37
-
-
Julu, P.O.1
Kerr, A.M.2
Apartopoulos, F.3
-
63
-
-
0026688851
-
A review of the respiratory disorder in the Rett syndrome
-
Kerr AM. A review of the respiratory disorder in the Rett syndrome. Brain Dev. 1992;14(suppl):S43-S45
-
(1992)
Brain Dev
, vol.14
, Issue.SUPPL.
-
-
Kerr, A.M.1
-
64
-
-
0027055620
-
Children with physical handicaps and their mothers: The interrelation of social support, maternal adjustment, and child adjustment
-
Barakat LP, Linney JA. Children with physical handicaps and their mothers: the interrelation of social support, maternal adjustment, and child adjustment. J Pediatr Psychol. 1992;17:725-739
-
(1992)
J Pediatr Psychol
, vol.17
, pp. 725-739
-
-
Barakat, L.P.1
Linney, J.A.2
-
65
-
-
0031682637
-
Family-centred service: A conceptual framework and research review
-
Rosenbaum P, King S, Law M, King G, Evans J. Family-centred service: a conceptual framework and research review. Phys Occup Ther Pediatr. 1998;18:1-20
-
(1998)
Phys Occup Ther Pediatr
, vol.18
, pp. 1-20
-
-
Rosenbaum, P.1
King, S.2
Law, M.3
King, G.4
Evans, J.5
|