Published in Paediatr Perinat Epidemiol on April 01, 2000
Direct health care costs of children and adolescents with Down syndrome. J Pediatr (2011) 1.12
Perinatal loss of Ts65Dn Down syndrome mice. Genetics (2005) 1.05
Adults with Down's syndrome: the prevalence of complications and health care in the community. Br J Gen Pract (2007) 1.02
A retrospective population-based study of childhood hospital admissions with record linkage to a birth defects registry. BMC Pediatr (2009) 1.00
Trends in survival among children with Down syndrome in 10 regions of the United States. Pediatrics (2012) 0.98
Reduced exercise capacity in persons with Down syndrome: cause, effect, and management. Ther Clin Risk Manag (2010) 0.88
Increasing total prevalence rate of cases with Down syndrome in Hungary. Eur J Epidemiol (2005) 0.87
Psychosocial impact of mothers with perinatal loss and its contributing factors: an insight. J Zhejiang Univ Sci B (2010) 0.84
Hospital admissions in children with down syndrome: experience of a population-based cohort followed from birth. PLoS One (2013) 0.84
Health conditions and their impact among adolescents and young adults with Down syndrome. PLoS One (2014) 0.81
Pain in Intellectually Disabled Children: Towards Evidence-Based Pharmacotherapy? Paediatr Drugs (2015) 0.80
High positivity of anti-CCP antibodies in patients with Down syndrome. Clin Rheumatol (2007) 0.76
Perinatal Natural History of the Ts1Cje Mouse Model of Down Syndrome: Growth Restriction, Early Mortality, Heart Defects, and Delayed Development. PLoS One (2016) 0.75
Towards onset prevention of cognition decline in adults with Down syndrome (The TOP-COG study): A pilot randomised controlled trial. Trials (2016) 0.75
Validation and application of health utilities index in Chinese subjects with down syndrome. Health Qual Life Outcomes (2014) 0.75
Feasibility of Assessing Diet with a Mobile Food Record for Adolescents and Young Adults with Down Syndrome. Nutrients (2017) 0.75
Folic acid and the prevention of neural tube defects. BMJ (1995) 4.17
Use of automated sequencing of polymerase chain reaction-generated amplicons to identify three types of cholera toxin subunit B in Vibrio cholerae O1 strains. J Clin Microbiol (1993) 3.01
The limitation of referral level fetal ultrasound examination in the detection of spina bifida in Western Australia, 1990-1991. Med J Aust (1993) 3.00
Craniosynostosis in Western Australia, 1980-1994: a population-based study. Am J Med Genet (1999) 2.67
Investigating genotype-phenotype relationships in Rett syndrome using an international data set. Neurology (2008) 2.10
Changes in risk factors for preterm birth in Western Australia 1984-2006. BJOG (2013) 2.06
NVQ training scheme. Vet Rec (2000) 2.03
Socialising puppies. Vet Rec (1995) 2.03
Guidelines for reporting clinical features in cases with MECP2 mutations. Brain Dev (2001) 1.99
Planned homebirths in Western Australia 1981-1987: a descriptive study. Med J Aust (1991) 1.98
Fetal alcohol syndrome: a prospective national surveillance study. Arch Dis Child (2007) 1.98
Periconceptional supplementation with folate and/or multivitamins for preventing neural tube defects. Cochrane Database Syst Rev (2001) 1.93
Planned homebirths in Western Australia 1981-1987: a descriptive study. Med J Aust (1991) 1.84
Sensitivity of the Diagnostic Interview Schedule for Children, 2nd edition (DISC-2.1) for specific diagnoses of children and adolescents. J Am Acad Child Adolesc Psychiatry (1993) 1.83
Birth defects in infants conceived by intracytoplasmic sperm injection: an alternative interpretation. BMJ (1997) 1.81
Periconceptional supplementation with folate and/or multivitamins for preventing neural tube defects. Cochrane Database Syst Rev (2000) 1.80
Folic acid, pernicious anaemia, and prevention of neural tube defects. Lancet (1994) 1.69
What constitutes cerebral palsy? Dev Med Child Neurol (1998) 1.66
Obsessive-compulsive disorder in children and adolescents. Clinical phenomenology of 70 consecutive cases. Arch Gen Psychiatry (1989) 1.62
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) 1.61
The effect of maternal alcohol consumption on fetal growth and preterm birth. BJOG (2009) 1.56
Histone deacetylase inhibitors trigger a G2 checkpoint in normal cells that is defective in tumor cells. Mol Biol Cell (2000) 1.54
Heavy prenatal alcohol exposure and increased risk of stillbirth. BJOG (2012) 1.50
Congenital rubella after previous maternal vaccination. Med J Aust (1992) 1.46
Alcohol-use disorders during and within one year of pregnancy: a population-based cohort study 1985-2006. BJOG (2013) 1.46
Early progressive encephalopathy in boys and MECP2 mutations. Neurology (2006) 1.44
Pre-pregnancy counselling for the primary prevention of birth defects: rubella vaccination and folate intake. Med J Aust (1995) 1.44
Rubella vaccination and congenital rubella syndrome in Western Australia. Med J Aust (1993) 1.38
Neural tube defects in Western Australia 1966-81 and a review of Australian data 1942-81. J Epidemiol Community Health (1984) 1.38
The prevalence and incidence of Rett syndrome in Australia. Eur Child Adolesc Psychiatry (1997) 1.36
Describing the phenotype in Rett syndrome using a population database. Arch Dis Child (2003) 1.33
The incidence and epidemiology of congenital upper limb anomalies: a total population study. J Hand Surg Am (2001) 1.32
Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations? J Med Genet (2003) 1.28
Refining the phenotype of common mutations in Rett syndrome. J Med Genet (2004) 1.22
Is the girl with Rett syndrome normal at birth? Dev Med Child Neurol (1998) 1.17
Rare childhood diseases: how should we respond? Arch Dis Child (2008) 1.14
Psychiatric disorders in first degree relatives of children and adolescents with obsessive compulsive disorder. J Am Acad Child Adolesc Psychiatry (1990) 1.12
Pharmacologic treatment of depression during pregnancy. JAMA (1999) 1.12
Western Australian Congenital Malformations Register. Med J Aust (1983) 1.12
Application of skull base techniques to pediatric neurosurgery. Childs Nerv Syst (1999) 1.08
A matched cohort study of planned home and hospital births in Western Australia 1981-1987. Midwifery (1994) 1.07
IDEA (Intellectual Disability Exploring Answers): a population-based database for intellectual disability in Western Australia. Ann Hum Biol (2005) 1.06
Perinatal risk factors for childhood Type 1 diabetes in Western Australia--a population-based study (1980-2002). Diabet Med (2007) 1.06
Skeletal abnormalities in Rett syndrome: increasing evidence for dysmorphogenetic defects. Am J Med Genet (1995) 1.03
Functional status of school-aged children with Down syndrome. J Paediatr Child Health (2002) 1.02
Continued increase in the incidence of childhood Type 1 diabetes in a population-based Australian sample (1985-2002). Diabetologia (2004) 1.00
Updating the profile of C-terminal MECP2 deletions in Rett syndrome. J Med Genet (2009) 0.99
Risk factors for isolated talipes equinovarus in Western Australia, 1980-1994. Paediatr Perinat Epidemiol (2005) 0.99
The impact of single gene and chromosomal disorders on hospital admissions of children and adolescents: a population-based study. Public Health Genomics (2010) 0.98
Medical aspects of school-aged children with Down syndrome. Dev Med Child Neurol (1999) 0.98
Family functioning in families with a child with Down syndrome: a mixed methods approach. J Intellect Disabil Res (2012) 0.97
The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome. Neurology (2009) 0.97
Birth defects in children with newborn encephalopathy. Dev Med Child Neurol (2000) 0.96
Heart and heart-lung transplantation in Down's syndrome. The lack of supportive evidence means each case must be carefully assessed. BMJ (2000) 0.95
Gross motor profile in rett syndrome as determined by video analysis. Neuropediatrics (2009) 0.95
A population-based approach to the investigation of osteopenia in Rett syndrome. Dev Med Child Neurol (1999) 0.95
A new method of prenatal alcohol classification accounting for dose, pattern and timing of exposure: improving our ability to examine fetal effects from low to moderate alcohol. J Epidemiol Community Health (2009) 0.95
Development of a video-based evaluation tool in Rett syndrome. J Autism Dev Disord (2006) 0.95
Rates of Obsessive Compulsive Disorder in first degree relatives of patients with trichotillomania: a research note. J Child Psychol Psychiatry (1992) 0.94
Antenatal antecedents of moderate and severe cerebral palsy. Paediatr Perinat Epidemiol (1995) 0.93
Congenital hypothyroidism in Western Australia 1981-1998. J Paediatr Child Health (2002) 0.92
Sleep dysfunction in Rett syndrome: lack of age related decrease in sleep duration. Brain Dev (2001) 0.91
Rates and types of hospitalisations for children who have subsequent contact with the child protection system: a population based case-control study. J Epidemiol Community Health (2009) 0.91
Modelling the potential impact of population-wide periconceptional folate/multivitamin supplementation on multiple births. BJOG (2001) 0.91
Population screening for cystic fibrosis in Western Australia: community response. Am J Med Genet (2000) 0.90
Prolonged QT interval in Rett syndrome. Arch Dis Child (1999) 0.89
Medium-term open label trial of L-carnitine in Rett syndrome. Brain Dev (2001) 0.89
Rett syndrome: randomized controlled trial of L-carnitine. J Child Neurol (1999) 0.89
Young adults with intellectual disability transitioning from school to post-school: a literature review framed within the ICF. Disabil Rehabil (2012) 0.89
Listeria awareness among new mothers in Western Australia. Aust N Z J Public Health (1999) 0.88
Factors associated with dental admissions for children aged under 5 years in Western Australia. Arch Dis Child (2008) 0.88
Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2. J Med Genet (2005) 0.87
Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome. J Med Genet (2003) 0.87
A population-based study of abdominal wall defects in South Australia and Western Australia. Paediatr Perinat Epidemiol (1998) 0.87
Metacarpophalangeal pattern profile and bone age in Rett syndrome: further radiological clues to the diagnosis. Am J Med Genet (1999) 0.86
New measurement of the cosmic-ray positron fraction from 5 to 15 GeV. Phys Rev Lett (2004) 0.86
Early development and regression in Rett syndrome. Clin Genet (2013) 0.86
Functioning and post-school transition outcomes for young people with Down syndrome. Child Care Health Dev (2013) 0.85
A DNA probe for the detection and identification of Bacillus sporothermodurans using the 16S-23S rDNA spacer region and phylogenetic analysis of some field isolates of Bacillus which form highly heat resistant spores. Syst Appl Microbiol (1998) 0.85
Childhood obsessive compulsive disorder: a two-year prospective follow-up of a community sample. J Am Acad Child Adolesc Psychiatry (1989) 0.84
Targetting of desmoglein 1 in inherited and acquired skin diseases. Clin Exp Dermatol (2003) 0.84
Spina bifida and folate. Med J Aust (1999) 0.83
FAS in Australia: fact or fiction? J Paediatr Child Health (2004) 0.83
Measurement of neutrino oscillations with the MINOS detectors in the NuMI beam. Phys Rev Lett (2008) 0.83
Hospital utilization, costs and mortality rates during the first 5 years of life: a population study of ART and non-ART singletons. Hum Reprod (2013) 0.83
InterRett--The application of bioinformatics to International Rett syndrome research. Ann Hum Biol (2005) 0.83
Hospitalisations from birth to 5 years in a population cohort of Western Australian children with intellectual disability. Arch Dis Child (2005) 0.83
Observation of muon neutrino disappearance with the MINOS detectors in the NuMI neutrino beam. Phys Rev Lett (2006) 0.81
Fetal growth and the risk of childhood non-CNS solid tumours in Western Australia. Br J Cancer (2008) 0.81
Rett syndrome: significant clinical overlap with Angelman syndrome but not with methylation status. J Child Neurol (1998) 0.81
A case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screening. Clin Dysmorphol (2001) 0.80
Survival of infants with neural tube defects in Western Australia 1966-1990. Paediatr Perinat Epidemiol (1994) 0.80
Design and methodology issues for clinical treatment trials in children and adolescents. Child and adolescent psychopharmacology: expanding the research base. Psychopharmacol Bull (1994) 0.80
Family patterns of gestational age at delivery and growth in utero in moderate and severe cerebral palsy. Dev Med Child Neurol (1994) 0.80