Published in J Gerontol A Biol Sci Med Sci on September 01, 2006
Genetics of healthy aging and longevity. Hum Genet (2013) 1.50
Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people. Am J Epidemiol (2011) 1.19
Genetic variation in healthy oldest-old. PLoS One (2009) 0.92
Angiotensin-converting enzyme gene variants are associated with both cortisol secretion and late-life depression. Transl Psychiatry (2013) 0.86
Are 'endurance' alleles 'survival' alleles? Insights from the ACTN3 R577X polymorphism. PLoS One (2011) 0.85
Profiling plasma peptides for the identification of potential ageing biomarkers in Chinese Han adults. PLoS One (2012) 0.84
Mitochondrial polymorphisms are associated both with increased and decreased longevity. Hum Hered (2008) 0.83
SIRT6 minor allele genotype is associated with >5-year decrease in lifespan in an aged cohort. PLoS One (2014) 0.83
Health-and disease-related biomarkers in aging research. Res Gerontol Nurs (2009) 0.79
Genetic epidemiology in aging research. J Gerontol A Biol Sci Med Sci (2009) 0.77
Association of apolipoprotein E and angiotensin converting enzyme gene polymorphisms with the multidimensional impairment in older patients. Rejuvenation Res (2009) 0.76
Apolipoprotein E-related all-cause mortality in hospitalized elderly patients. Age (Dordr) (2010) 0.75
The prion protein M129V polymorphism: longevity and cognitive impairment among Polish centenarians. Prion (2013) 0.75
Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science (2004) 15.91
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet (2009) 15.15
Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. Nat Genet (2009) 14.86
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet (2011) 9.23
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet (2006) 4.68
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science (2008) 4.04
Incidence rates of post-ERCP complications: a systematic survey of prospective studies. Am J Gastroenterol (2007) 4.03
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet (2006) 3.97
Common variants at five new loci associated with early-onset inflammatory bowel disease. Nat Genet (2009) 3.82
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism. Hum Mol Genet (2005) 3.76
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet (2010) 3.66
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet (2007) 3.47
Joubert Syndrome and related disorders. Orphanet J Rare Dis (2010) 3.10
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am J Hum Genet (2002) 2.90
Transmembrane 6 superfamily member 2 gene variant disentangles nonalcoholic steatohepatitis from cardiovascular disease. Hepatology (2015) 2.81
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat Genet (2009) 2.72
Insight into the nature of the CRP-coronary event association using Mendelian randomization. Int J Epidemiol (2006) 2.70
Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease. PLoS One (2010) 2.57
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nat Genet (2009) 2.57
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. Am J Hum Genet (2002) 2.46
Genetic susceptibility to nonsteroidal anti-inflammatory drug-related gastroduodenal bleeding: role of cytochrome P450 2C9 polymorphisms. Gastroenterology (2007) 2.32
PINK1 mutations are associated with sporadic early-onset parkinsonism. Ann Neurol (2004) 2.30
Abeta-degrading enzymes in Alzheimer's disease. Brain Pathol (2008) 2.26
Genotypes and phenotypes of Joubert syndrome and related disorders. Eur J Med Genet (2007) 2.23
Late-life depression, mild cognitive impairment, and dementia: possible continuum? Am J Geriatr Psychiatry (2010) 2.22
Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. Am J Hum Genet (2011) 2.14
Botulinum toxin type A in the treatment of sialorrhea in Parkinson's disease. J Am Geriatr Soc (2008) 2.05
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Hum Mutat (2008) 2.00
Can modern biology interpret the mystery of the birth of Christ? J Matern Fetal Neonatal Med (2014) 1.98
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. Am J Hum Genet (2003) 1.95
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. Nat Genet (2010) 1.89
Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet (2009) 1.89
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Ann Neurol (2006) 1.89
Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance. Am J Hum Genet (2007) 1.86
Additive effects of genetic variation in dopamine regulating genes on working memory cortical activity in human brain. J Neurosci (2006) 1.85
Multidimensional Prognostic Index based on a comprehensive geriatric assessment predicts short-term mortality in older patients with heart failure. Circ Heart Fail (2009) 1.83
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet (2007) 1.82
Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics (2008) 1.80
Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. Am J Hum Genet (2006) 1.78
A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet (2009) 1.71
Perioperative handling of patients on antiplatelet therapy with need for surgery. Intern Emerg Med (2009) 1.69
Leopard syndrome. Orphanet J Rare Dis (2008) 1.69
PARK6-linked parkinsonism occurs in several European families. Ann Neurol (2002) 1.68
The prevalence of diarrhea and its association with drug use in elderly outpatients: a multicenter study. Am J Gastroenterol (2008) 1.64
Hyperhomocysteinemia and other inherited prothrombotic conditions in young adults with a history of ischemic stroke. Stroke (2002) 1.64
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. Am J Hum Genet (2011) 1.64
Current epidemiology of mild cognitive impairment and other predementia syndromes. Am J Geriatr Psychiatry (2005) 1.63
Recurrent triploidy of maternal origin. Eur J Hum Genet (2003) 1.62
Development and validation of a multidimensional prognostic index for one-year mortality from comprehensive geriatric assessment in hospitalized older patients. Rejuvenation Res (2008) 1.60
Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11. Hum Genet (2002) 1.57
Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: clinical report and review of cerebral vascular anomalies. Am J Med Genet A (2005) 1.57
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. Hum Mutat (2007) 1.56
Nonrandom distribution of aberrant promoter methylation of cancer-related genes in sporadic breast tumors. Clin Cancer Res (2004) 1.55
Distinguishing the four genetic causes of Jouberts syndrome-related disorders. Ann Neurol (2005) 1.54
Genetic dosage compensation in a family with velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome. Am J Med Genet A (2011) 1.54
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. Am J Hum Genet (2010) 1.53
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. Am J Hum Genet (2005) 1.53
Association of deletion 22 and trisomy 21: a likely random association in patients with conotruncal heart defects. Am J Med Genet A (2005) 1.52
Mutant Pink1 induces mitochondrial dysfunction in a neuronal cell model of Parkinson's disease by disturbing calcium flux. J Neurochem (2009) 1.52
Addition of the multidimensional prognostic index to the estimated glomerular filtration rate improves prediction of long-term all-cause mortality in older patients with chronic kidney disease. Rejuvenation Res (2012) 1.51
Platelet reactivity and disease activity in subjects with psoriatic arthritis. J Rheumatol (2011) 1.51
Barrett's esophagus and adenocarcinoma risk: the experience of the North-Eastern Italian Registry (EBRA). Ann Surg (2012) 1.50
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. Hum Mutat (2009) 1.49
Deletion 22q11 and isolated congenital heart disease. Int J Cardiol (2007) 1.49
The functional Q84R polymorphism of mammalian Tribbles homolog TRB3 is associated with insulin resistance and related cardiovascular risk in Caucasians from Italy. Diabetes (2005) 1.49
Erythrocyte-mediated delivery of dexamethasone in patients with mild-to-moderate ulcerative colitis, refractory to mesalamine: a randomized, controlled study. Am J Gastroenterol (2008) 1.47
Dietary intake of unsaturated fatty acids and age-related cognitive decline: a 8.5-year follow-up of the Italian Longitudinal Study on Aging. Neurobiol Aging (2005) 1.46
High-resolution SNP arrays in mental retardation diagnostics: how much do we gain? Eur J Hum Genet (2009) 1.46
Use of lactoferrin for Helicobacter pylori eradication. Preliminary results. J Clin Gastroenterol (2003) 1.45
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. Nat Genet (2011) 1.43
Hypopigmented skin patches in 17q21.31 microdeletion syndrome: expanding the spectrum of cutaneous findings. Clin Dysmorphol (2014) 1.43
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. Hum Mutat (2009) 1.43
Changes in CpG islands promoter methylation patterns during ductal breast carcinoma progression. Cancer Epidemiol Biomarkers Prev (2009) 1.43
Long-term treatment with mesalazine in patients with symptomatic uncomplicated diverticular disease. Intern Emerg Med (2011) 1.42
A prospective study on survival in cancer patients with and without venous thromboembolism. Intern Emerg Med (2013) 1.42
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nat Genet (2008) 1.40
Helicobacter pylori eradication: are we really all equal? A controlled study in native and immigrant population. Intern Emerg Med (2010) 1.40
Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome). Am J Med Genet A (2008) 1.40
Atrioventricular canal defect in Bardet-Biedl syndrome: clinical evidence supporting the link between atrioventricular canal defect and polydactyly syndromes with ciliary dysfunction536. Genet Med (2006) 1.38
Anticoagulant therapy in oncologic patients undergoing venous stenting for superior vena cava syndrome and other interventional procedures. Cardiovasc Intervent Radiol (2014) 1.38
LEOPARD syndrome: clinical diagnosis in the first year of life. Am J Med Genet A (2006) 1.37
Short-term effects of high-intensity laser therapy versus ultrasound therapy in the treatment of people with subacromial impingement syndrome: a randomized clinical trial. Phys Ther (2009) 1.35
Inhaled beta2-adrenoceptor agonists: cardiovascular safety in patients with obstructive lung disease. Drugs (2005) 1.33
Comparing the prognostic accuracy for all-cause mortality of frailty instruments: a multicentre 1-year follow-up in hospitalized older patients. PLoS One (2012) 1.32
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients. Orphanet J Rare Dis (2011) 1.32
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. Hum Mutat (2010) 1.32
The TRIB3 Q84R polymorphism and risk of early-onset type 2 diabetes. J Clin Endocrinol Metab (2008) 1.32
Prevalence, clinical features and avoidability of adverse drug reactions as cause of admission to a geriatric unit: a prospective study of 1756 patients. Drug Saf (2008) 1.31
Metabolic-cognitive syndrome: a cross-talk between metabolic syndrome and Alzheimer's disease. Ageing Res Rev (2010) 1.30