CNR Institutional Research Information System

PIRASTU, MARIO
 Distribuzione geografica
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Continente #
AS - Asia 39
EU - Europa 35
NA - Nord America 3
Totale 77
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Nazione #
IT - Italia 34
CN - Cina 14
SG - Singapore 13
KR - Corea 12
US - Stati Uniti d'America 3
SE - Svezia 1
Totale 77
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Città #
Assemini 23
Guangzhou 14
Seoul 12
Singapore 10
Boardman 3
Bologna 3
Turin 3
Florence 1
Sala Baganza 1
Uppsala 1
Totale 71
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Nome #
A novel mutation in the GLC1A gene causes Juvenile Open Angle Glaucoma in four families from the Italian region of Puglia. 11
Striking differentiation of sub-populations within a genetically homogeneous isolate (Ogliastra) in Sardinia as revealed by mtDNA analysis. 6
Extent of linkage disequilibrium in a Sardinian sub-isolate: sampling and methodological considerations. 4
Unravelling the genetics of complex diseases through random forest: application to genome wide Association of asthma in a genetic isolate of Ogliastra 3
Dissecting metabolic syndrome components: data from an epidemiologic survey in a genetic isolate. 3
Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients 3
Association studies of candidate genes for Alzheimer's disease in a North Sardinian population. 2
The complete mitochondrial DNA sequence of the Montecristo goat 2
Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations 2
EDA2R Is Associated with Androgenetic Alopecia. 2
Environmental and Genetic Contribution to Hypertension Prevalence: Data from an Epidemiological Survey on Sardinian Genetic Isolates 2
Early and severe neurological features in a Wilson disease patient compound heterozygous for two frameshift mutations. 2
Carrier detection and early diagnosis of Wilson's disease by restriction lenght polymorphism analysis. 2
High differentiation among eight villages in a secluded area of Sardinia revealed by genome-wide high density SNPs analysis. 2
A strategy analysis for genetic association studies with known inbreeding. 2
Ogliastra Genetic Park: a solution for Complex Diseases 2
Haplotype affinities resolve a major component of goat (Capra hircus) MtDNA D-loop diversity and reveal specific features of the Sardinian stock. 2
Age related hearing loss and level of education: An epidemiological study on a large cohort of isolated populations 1
Emergence of Talanin protein associated with human uric acid nephrolithiasis in the Hominidae lineage 1
Haplotype and mutation analysis in Mediterranean patients with Wilson disease 1
Haplotype and mutation analysis in Greek patients with Wilson disease 1
A novel spontaneous missense mutation in VMD2 gene is a cause of a Best macular distrophy sporadic case 1
Landmark study of LD in a genetic Sardinian isolate using 500k SNP: prerequisite for GW association approach. 1
Identification of a founder BRCA2 mutation in Sardinia 1
Resolution of a major component of goat mitochondrial diversity revealed by resequencing complete mitogenomes 1
Prenatal diagnosis of ß-thalassemia in Mediterranean Population by Dot Blot Analysis with Allelyc specific Oligonucleotide-Probes. 1
Identification of a new candidate locus for uric acid nephrolithiasis. 1
Epidemiology and Genetics of Obesity in three Sardinian Genetic Isolates 1
Low frequency of the CFH Polymorphism T1277C Contributes to a Low Prevalence of AMD in a Sardinian Genetic Isolate 1
Possible role of Sprouty-2 in Familial Medullary Thyroid Carcinoma Pathogenesis 1
Meta-Analysis of Genome-Wide Association Studies in Myopia in Nine Populations. 1
A common beta-ig-h3 gene mutation in a large cohort of Sardinian Reis Bücklers' Corneal Dystrophy patients. 1
Further delineation of the molecular pathology of Wilson disease in the Mediterranean population. 1
Identification of candidate loci for essential hypertension by genome-wide search in a genetic isolate from Sardinia. 1
Molecular characterization of Wilson disease in the Sardinian population. Evidence of a founder effect 1
A new Androgenetic Alopecia genetic predisposing factor 1
Identification of a novel gene and a common variant associated with uric acid nephrolithiasis in a Sardinian genetic isolate. 1
Analisi di geni candidati nella malattia di Alzheimer in Sardegna. 1
Population Genetics: the example of Sardinia 1
Il glaucoma 1
Bitter taste study in a sardinian genetic isolate supports the association of phenylthiocarbamide sensitivity to the TAS2R38 bitter receptor gene. 1
Genetic studies on an isolate region of Sardinia unravels history and evolution of its population. 1
Totale 77
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Categoria #
all - tutte 1.646
article - articoli 1.073
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 10
Totale 2.729
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/202461 0 0 0 0 0 0 0 0 3 0 28 30
2024/202516 9 7 0 0 0 0 0 0 0 0 0 0
Totale 77