Published in Eur J Hum Genet on July 02, 2008
Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening. Eur J Hum Genet (2012) 1.51
Clinical practice. The care of children with Down syndrome. Eur J Pediatr (2010) 1.50
Trends in survival among children with Down syndrome in 10 regions of the United States. Pediatrics (2012) 0.98
Sleep measurement and monitoring in children with Down syndrome: a review of the literature, 1960-2010. Sleep Med Rev (2012) 0.97
Pharmacological approaches to improving cognitive function in Down syndrome: current status and considerations. Drug Des Devel Ther (2014) 0.93
Inhibin at 90: from discovery to clinical application, a historical review. Endocr Rev (2014) 0.91
Reduced exercise capacity in persons with Down syndrome: cause, effect, and management. Ther Clin Risk Manag (2010) 0.88
Self-Organizing Feature Maps Identify Proteins Critical to Learning in a Mouse Model of Down Syndrome. PLoS One (2015) 0.87
Trends in maternal age distribution and the live birth prevalence of Down's syndrome in England and Wales: 1938-2010. Eur J Hum Genet (2013) 0.86
Protein profiles in Tc1 mice implicate novel pathway perturbations in the Down syndrome brain. Hum Mol Genet (2013) 0.82
Sex differences in protein expression in the mouse brain and their perturbations in a model of Down syndrome. Biol Sex Differ (2015) 0.78
Protein dynamics associated with failed and rescued learning in the Ts65Dn mouse model of Down syndrome. PLoS One (2015) 0.78
Immune evaluation and vaccine responses in Down syndrome: evidence of immunodeficiency? Vaccine (2011) 0.78
A cross-sectional study of the phenotypes of obesity and insulin resistance in adults with down syndrome. Diabetes Metab J (2014) 0.78
Reduced numbers of switched memory B cells with high terminal differentiation potential in Down syndrome. Eur J Immunol (2014) 0.78
Genetic polymorphisms involved in folate metabolism and maternal risk for down syndrome: a meta-analysis. Dis Markers (2014) 0.77
Pregnancy Outcome following Prenatal Diagnosis of Chromosomal Anomaly: A Record Linkage Study of 26,261 Pregnancies. PLoS One (2016) 0.75
Prevalence, prenatal screening and neonatal features in children with Down syndrome: a registry- based national study. Ital J Pediatr (2015) 0.75
Factors associated with utilization of maternal serum screening for Down syndrome in mainland China: a cross-sectional study. BMC Health Serv Res (2016) 0.75
Celecoxib for the prevention of sporadic colorectal adenomas. N Engl J Med (2006) 7.62
Aspirin and non-steroidal anti-inflammatory drugs for cancer prevention: an international consensus statement. Lancet Oncol (2009) 5.05
Open letter to prime minister David Cameron and health secretary Andrew Lansley. BMJ (2010) 4.52
Identification of Stk6/STK15 as a candidate low-penetrance tumor-susceptibility gene in mouse and human. Nat Genet (2003) 3.70
Part 11: Neonatal resuscitation: 2010 International Consensus on Cardiopulmonary Resuscitation and Emergency Cardiovascular Care Science With Treatment Recommendations. Circulation (2010) 3.41
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut (2013) 2.86
Five-year efficacy and safety analysis of the Adenoma Prevention with Celecoxib Trial. Cancer Prev Res (Phila) (2009) 2.46
Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression. PLoS Genet (2010) 2.39
Planning the human variome project: the Spain report. Hum Mutat (2009) 2.22
Neonatal resuscitation: 2010 International Consensus on Cardiopulmonary Resuscitation and Emergency Cardiovascular Care Science with Treatment Recommendations. Pediatrics (2010) 2.13
Aspirin in the chemoprevention of colorectal neoplasia: an overview. Cancer Prev Res (Phila) (2011) 2.03
MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer. Gastroenterology (2005) 1.94
The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype. Am J Hum Genet (2003) 1.93
European Resuscitation Council guidelines for resuscitation 2005. Section 6. Paediatric life support. Resuscitation (2005) 1.91
Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. Am J Hum Genet (2003) 1.80
European Resuscitation Council Guidelines for Resuscitation 2010 Section 9. Principles of education in resuscitation. Resuscitation (2010) 1.73
Ethics, governance and consent in the UK: implications for research into the longer-term outcomes of congenital heart defects. Arch Dis Child (2009) 1.68
Molecular characterization of the spectrum of genomic deletions in the mismatch repair genes MSH2, MLH1, MSH6, and PMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC). Genes Chromosomes Cancer (2005) 1.61
Cardiovascular malformations among preterm infants. Pediatrics (2005) 1.52
Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation. Brain (2006) 1.48
Mortality with congenital heart defects in England and Wales, 1959-2009: exploring technological change through period and birth cohort analysis. Arch Dis Child (2012) 1.43
How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010. Hum Mutat (2010) 1.31
Tmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjects. J Allergy Clin Immunol (2013) 1.30
Tumor mapping in 2 large multigenerational families with CYLD mutations: implications for disease management and tumor induction. Arch Dermatol (2009) 1.28
Mouse model for hereditary hemorrhagic telangiectasia has a generalized vascular abnormality. Circulation (2003) 1.27
Prevalence of adenomas and hyperplastic polyps in mismatch repair mutation carriers among CAPP2 participants: report by the colorectal adenoma/carcinoma prevention programme 2. J Clin Oncol (2008) 1.23
Therapeutic levels of aspirin and salicylate directly inhibit a model of angiogenesis through a Cox-independent mechanism. FASEB J (2006) 1.22
European Resuscitation Council guidelines for resuscitation 2005. Section 9. Principles of training in resuscitation. Resuscitation (2005) 1.21
Part 11: Neonatal resuscitation: 2010 International Consensus on Cardiopulmonary Resuscitation and Emergency Cardiovascular Care Science with Treatment Recommendations. Resuscitation (2010) 1.20
A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome. Am J Hum Genet (2002) 1.18
Germ line mutations of mismatch repair genes in hereditary nonpolyposis colorectal cancer patients with small bowel cancer: International Society for Gastrointestinal Hereditary Tumours Collaborative Study. Clin Cancer Res (2006) 1.18
Filaggrin null mutations and childhood atopic eczema: a population-based case-control study. J Allergy Clin Immunol (2008) 1.17
TGFBR1*6A may contribute to hereditary colorectal cancer. J Clin Oncol (2005) 1.16
Changes in fetal prevalence and outcome for trisomies 13 and 18: a population-based study over 23 years. J Matern Fetal Neonatal Med (2010) 1.16
Low erythrocyte folate status and polymorphic variation in folate-related genes are associated with risk of neural tube defect pregnancy. Mol Genet Metab (2004) 1.15
Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth. Nat Genet (2007) 1.11
Permanent cardiac pacing in children: choosing the optimal pacing site: a multicenter study. Circulation (2012) 1.07
GENETICS. The Human Variome Project. Science (2008) 1.07
Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation. Brain (2008) 1.06
Comparing the clinical and economic effects of clinical examination, pulse oximetry, and echocardiography in newborn screening for congenital heart defects: a probabilistic cost-effectiveness model and value of information analysis. Int J Technol Assess Health Care (2007) 1.05
Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. Lancet Oncol (2012) 1.01
Tetralogy of Fallot with absent pulmonary valve syndrome, right aortic arch, and disconnected left pulmonary artery. World J Pediatr Congenit Heart Surg (2013) 1.01
Familial cylindromatosis and brooke-spiegler syndrome: a review of current therapeutic approaches and the surgical challenges posed by two affected families. Dermatol Surg (2009) 1.00
Preliminary observation of elevated levels of nanocrystalline iron oxide in the basal ganglia of neuroferritinopathy patients. Biochim Biophys Acta (2006) 0.99
Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010. Hum Mutat (2011) 0.96
Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation. Hum Mutat (2012) 0.95
Visualizing the history of living spaces. IEEE Trans Vis Comput Graph (2007) 0.95
Enlarged bronchial collateral artery complicating recovery after arterial switch for simple transposition of the great arteries. Interact Cardiovasc Thorac Surg (2008) 0.93
EASI--enrichment of alternatively spliced isoforms. Nucleic Acids Res (2006) 0.92
Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes. Eur J Hum Genet (2002) 0.92
A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3. Hum Genet (2004) 0.92
Transition from cylindroma to spiradenoma in CYLD-defective tumours is associated with reduced DKK2 expression. J Pathol (2011) 0.91
DNA repair gene polymorphisms, pre-natal factors and the frequency of somatic mutations in the glycophorin-A gene among healthy newborns. Mutat Res (2004) 0.90
Cerebral vasculitis in a teenager with Goodpasture's syndrome. Nephrol Dial Transplant (2004) 0.90
Thymidylate synthase repeat polymorphisms and risk of neural tube defects in a population from the northern United Kingdom. Birth Defects Res A Clin Mol Teratol (2004) 0.88
Developmental tuning and decay in senescence of oscillations linking the corticospinal system. J Neurosci (2010) 0.87
Neuroferritinopathy: a window on the role of iron in neurodegeneration. Blood Cells Mol Dis (2003) 0.87
Neonatal screening for critical cardiovascular anomalies using pulse oximetry. Arch Dis Child Fetal Neonatal Ed (2013) 0.86
Spectrum of movement disorders in neuroferritinopathy. Mov Disord (2005) 0.86
Quality of life and congenital heart defects: comparing parent and professional values. Arch Dis Child (2006) 0.85
An investigation of folate-related genetic factors in the determination of birthweight. Paediatr Perinat Epidemiol (2005) 0.84
Neuroferritinopathy: a new inborn error of iron metabolism. Neurogenetics (2012) 0.84
Prophylactic bilateral salpingo-oophorectomy (PBSO) with or without prophylactic bilateral mastectomy (PBM) or no intervention in BRCA1 mutation carriers: a cost-effectiveness analysis. Eur J Cancer (2008) 0.84
Human Variome Project country nodes: documenting genetic information within a country. Hum Mutat (2012) 0.83
Patient-reported quality of life outcomes for children with serious congenital heart defects. Arch Dis Child (2014) 0.81
Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation. PLoS One (2009) 0.80
RE: Correspondence from Wieczorek & Gillessen-Kaesbach and Hing & Parisi. Am J Med Genet A (2006) 0.79
Polymorphisms of the DNA repair gene XRCC1 and the frequency of somatic mutations at the glycophorin A locus in newborns. Mutat Res (2002) 0.78
Are there socio-economic inequalities in age of resection of colorectal cancer in people with HNPCC? Fam Cancer (2003) 0.78
X chromosome inactivation pattern in BRCA gene mutation carriers. Eur J Cancer (2012) 0.78
Loss to follow-up of adults with repaired congenital heart disease. Heart (2012) 0.77
MLH1 Differential allelic expression in mutation carriers and controls. Ann Hum Genet (2010) 0.77
Asymptomatic anomalous origin of the left coronary artery from the pulmonary artery. Pediatr Cardiol (2008) 0.77
Alu in Lynch syndrome: a danger SINE? Cancer Prev Res (Phila) (2011) 0.77
A plea for consideration of the less affected hand in therapeutic approaches to hemiplegia. Dev Med Child Neurol (2012) 0.77
Employment and advice regarding careers for adults with congenital heart disease. Cardiol Young (2005) 0.77
Report from the Task Force of the European Society of Cardiology for the interpretation of the neonatal electrocardiogram. Cardiol Young (2002) 0.77
Can resistant starch and/or aspirin prevent the development of colonic neoplasia? The Concerted Action Polyp Prevention (CAPP) 1 Study. Proc Nutr Soc (2003) 0.76
The promotion of recovery through rehabilitation after acquired brain injury in children. Dev Med Child Neurol (2014) 0.76
Bayesian inference supports a location and neighbour-dependent model of DNA methylation propagation at the MGMT gene promoter in lung tumours. J Theor Biol (2013) 0.76
Scoliosis in association with infantile hypophosphatasia: a case study in two siblings. Spine (Phila Pa 1976) (2005) 0.75
Mutation (variation) databases and registries: a rationale for coordination of efforts. Nat Rev Genet (2011) 0.75
Gelofusine and NEC: a misleading conclusion. Arch Dis Child (2008) 0.75
Survey of HNPCC Management Analysis of Responses from 18 International Cancer Centres. Hered Cancer Clin Pract (2005) 0.75
The epidemiology of arrhythmia in infants: a population-based study. J Paediatr Child Health (2013) 0.75
Cardiovascular pre-participation screening of young competitive athletes for prevention of sudden death: proposal for a common European protocol. Eur Heart J (2005) 0.75
Extended prescribing by UK nurses and pharmacists: triumph of common sense. BMJ (2005) 0.75
Assessing cancer risk. Expert Rev Anticancer Ther (2004) 0.75
Part 4: Conflict of interest management before, during, and after the 2010 International Consensus Conference on Cardiopulmonary Resuscitation and Emergency Cardiovascular Care Science with Treatment Recommendations. Resuscitation (2010) 0.75
Part 4: Conflict of interest management before, during, and after the 2010 International Consensus Conference on Cardiopulmonary Resuscitation and Emergency Cardiovascular Care Science With Treatment Recommendations. Circulation (2010) 0.75
High risk of endometrial cancer in colorectal cancer kindred is pathognomonic for MMR-mutation carriers. Fam Cancer (2008) 0.75
Atrioventricular block in an infant with an atrioventricular septal aneurysm. Pediatr Cardiol (2011) 0.75
Improving paediatric and newborn life support training by the use of modified manikins allowing airway occlusion. Resuscitation (2002) 0.75
Neurogenetic research: of mice and men … and misunderstanding. Dev Med Child Neurol (2017) 0.75