Search results for " loci"
showing 7 items of 227 documents
Dalle indagini all'ammissione della prova in giudizio
2022
The paper analyses some issues concerning the assessment of the evidence by the trial judge in cases where the evidence has been gathered in different States.
New loci associated with kidney function and chronic kidney disease
2010
Chronic kidney disease (CKD) is a significant public health problem, and recent genetic studies have identified common CKD susceptibility variants. The CKDGen consortium performed a meta-analysis of genome-wide association data in 67,093 individuals of European ancestry from 20 predominantly population-based studies in order to identify new susceptibility loci for reduced renal function as estimated by serum creatinine (eGFRcrea), serum cystatin c (eGFRcys) and CKD (eGFRcrea 60 ml/min/1.73 m 2; n = 5,807 individuals with CKD (cases)). Follow-up of the 23 new genome-wide-significant loci (P 5 × 10 8) in 22,982 replication samples identified 13 new loci affecting renal function and CKD (in or…
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus
2013
The author manuscript of this article is open access and is freely available online at PubMed Central
New susceptibility locus for coronary artery disease on chromosome 3q22.3
2009
We present a three-stage analysis of genome-wide SNP data in 1,222 German individuals with myocardial infarction and 1,298 controls, in silico replication in three additional genome-wide datasets of coronary artery disease (CAD) and subsequent replication in approximately 25,000 subjects. We identified one new CAD risk locus on 3q22.3 in MRAS (P = 7.44 x 10(-13); OR = 1.15, 95% CI = 1.11-1.19), and suggestive association with a locus on 12q24.31 near HNF1A-C12orf43 (P = 4.81 x 10(-7); OR = 1.08, 95% CI = 1.05-1.11).
Il "carattere essenziale" del paesaggio come Patrimonio. Sei progetti per il territorio dei Monti Erei
2019
Il paesaggio italiano è un Patrimonio incommensurabile che va conservato e tramandato. Nel paesaggio si raccoglie la sintesi delle stratificazioni, della storia e della cultura del nostro territorio. Il paesaggio è ciò che percepiamo esteticamente, ma anche ciò che creiamo e modifichiamo eticamente. Al progetto contemporaneo spetta il nobile compito di riconoscere il carattere essenziale del paesaggio per poterlo rinnovare – attualizzandolo al presente – e consegnare alle generazioni future. La cultura architettonica contemporanea non si è sempre rivelata all’altezza di questo compito. Alla cura e alla trasformazione attenta del paesaggio si è spesso opposta una speculazione edilizia, che h…
Large-scale genotyping identifies 41 new loci associated with breast cancer risk
2013
Journal article Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ~9% of the familial risk of the disease. We report here a meta-analysis of 9 genome-wide association studies, including 10,052 breast cancer cases and 12,575 controls of European ancestry, from which we selected 29,807 SNPs for further genotyping. These SNPs were genotyped in 45,290 cases and 41,880 controls of European ancestry from 41 studies in the Breast Cancer Association Consortium (BCAC). The SNPs were genotyped as part of a collaborative genotyping experiment involving four consortia (Collaborat…
Repetitive sequence distribution on Saguinus, Leontocebus and Leontopithecus tamarins (Platyrrhine, Primates) by mapping telomeric (TTAGGG) motifs an…
2021
Simple Summary Telomeric and rDNA sequence distribution on tamarins (New world monkeys, Primates) was analysed through molecular cytogenetics by fluorescence in situ hybridization. The mapping of Telomeric and rDNA probes on chromosomes was performed in order to clarify their localization and role in genome evolution. We found rDNA loci on the same homologs 19–22 on the analysed species with a different position in one of them named Leontopithecus rosalia, presumably as result of inversions. Other rDNA signals could be present on chromosome 16 and 17. On the last species, we found the classic telomeric sequence with exceptions while on the other species analysed, we found very amplified tel…