Výsledky vyhledávání - "Paola Maria Melis"

Identification of a New Candidate Locus for Uric Acid Nephrolithiasis

Autor: Stefania Casula, Mario Pirastu, Paola Forabosco, Gianbattista Maestrale, Andrea Angius, Giuseppina Casu, Maria Neve Ombra, Paola Maria Melis, Enrico Petretto, Giacomo Colussi, Enzo Usai

Publikováno v: The American Journal of Human Genetics. 68:1119-1129

Renal stone formation is a common multifactorial disorder, of unknown etiology, with an established genetic contribution. Lifetime risk for nephrolithiasis is approximately 10% in Western populations, and uric acid stones account for 5%-10% of all st

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcd832a7687428032f90cf9f154d7063
https://doi.org/10.1086/320105

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Haplotype Affinities Resolve a Major Component of Goat (Capra hircus) MtDNA D-Loop Diversity and Reveal Specific Features of the Sardinian Stock

Publikováno v: PLoS ONE
PLoS ONE, Vol 7, Iss 2, p e30785 (2012)

Goat mtDNA haplogroup A is a poorly resolved lineage absorbing most of the overall diversity and is found in locations as distant as Eastern Asia and Southern Africa. Its phylogenetic dissection would cast light on an important portion of the spread

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b87546383dbcf193b4300e7e1e433d8
http://europepmc.org/articles/PMC3281868

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Nuove indagini per lanalisi della mortalità nei primi anni di vita in Sardegna

Autor: Marco Breschi, Stanislao Mazzoni, Paola Maria Melis, Lucia Pozzi

Publikováno v: Salute, Malattia e sopravvivenza in Italia tra '800 e '900, Alghero (Sassari), 2007
info:cnr-pdr/source/autori:Marco Breschi, Stanislao Mazzoni, Paola Maria Melis, Lucia Pozzi/congresso_nome:Salute, Malattia e sopravvivenza in Italia tra '800 e '900/congresso_luogo:Alghero (Sassari)/congresso_data:2007/anno:2007/pagina_da:/pagina_a:/intervallo_pagine

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::c3f55a5a5b80cdc310c39c6d39182ea9
http://www.cnr.it/prodotto/i/82255

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Browsing isolated population data

Autor: Giuseppe Ledda, Mauro Adamo, Gianmaria Mancosu, Teresa Manias, Paola Maria Melis, Mario Pirastu, Francesca Marras, Cesare Cappio Borlino, Donatella Serra, Massimiliano Cosso

Publikováno v: BMC bioinformatics 6 (2005): 1–5. doi:10.1186/1471-2105-6-S4-S17
info:cnr-pdr/source/autori:Mancosu G, Cosso M, Marras F, Borlino CC, Ledda G, Manias T, Adamo M, Serra D, Melis P, Pirastu M/titolo:Browsing isolated population data./doi:10.1186%2F1471-2105-6-S4-S17/rivista:BMC bioinformatics/anno:2005/pagina_da:1/pagina_a:5/intervallo_pagine:1–5/volume:6
BMC Bioinformatics
BMC Bioinformatics, Vol 6, Iss Suppl 4, p S17 (2005)

Background In our studies of genetically isolated populations in a remote mountain area in the center of Sardinia (Italy), we found that 80–85% of the inhabitants of each village belong to a single huge pedigree with families strictly connected to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53a74ef3519303673ac962297b7da639
http://www.cnr.it/prodotto/i/26344

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Urinary glycosaminoglycans as risk factors for uric acid nephrolithiasis: case control study in a Sardinian genetic isolate

Autor: Giambattista Maestrale, Francesco Cardia, Mario Pirastu, Stefania Casula, Ginevra Biino, Paola Maria Melis, Maria Neve Ombra

Publikováno v: Urology (Ridgewood N.J.) 62 (2003): 416–420. doi:10.1016/S0090-4295(03)00473-4
info:cnr-pdr/source/autori:Ombra MN, Casula S, Biino G, Maestrale G, Cardia F, Melis P, Pirastu M./titolo:Urinary glycosaminoglycans as risk factors for uric acid nephrolithiasis: case control study in a Sardinian genetic isolate./doi:10.1016%2FS0090-4295(03)00473-4/rivista:Urology (Ridgewood N.J.)/anno:2003/pagina_da:416/pagina_a:420/intervallo_pagine:416–420/volume:62

Objectives To assess the clinical association between glycosaminoglycan (GAG) excretion and uric acid (UA) nephrolithiasis by measuring urinary GAG levels in a case-control study conducted in a Sardinian genetic isolate. Inhibitors of crystallization

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce74ced66a9858ab3b19eb81c589da45
https://pubmed.ncbi.nlm.nih.gov/12946738

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Oral history: a research tool for tracing changes in health and life styles during the last century

Autor: Paola Maria Melis

Publikováno v: New Frontiers: Italian/Canadian Populations Genomic and Bioinformatic Collaborations, Laurino (Salerno), 2003
info:cnr-pdr/source/autori:Paola Maria Melis/congresso_nome:New Frontiers: Italian%2FCanadian Populations Genomic and Bioinformatic Collaborations/congresso_luogo:Laurino (Salerno)/congresso_data:2003/anno:2003/pagina_da:/pagina_a:/intervallo_pagine

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::be30f3a24876e5ab3da607e56acb10e4
http://www.cnr.it/prodotto/i/109893

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Not all isolates are equal: linkage disequilibrium analysis on Xq13.3 reveals different patterns in Sardinian sub-populations

Autor: Mario Pirastu, Ivana Persico, Mario Falchi, Giuseppina Casu, Enrico Petretto, Paola Forabosco, Giovanni Battista Maestrale, Andrea Angius, Paola Maria Melis, Daniela Bebbere

Publikováno v: Human genetics. 111(1)

Recent studies indicate that, whereas the Sardinian population as a whole is comparable to outbred populations for linkage disequilibrium (LD) mapping of common variants, LD in Sardinian sub-isolates is more extended, making these populations particu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::caa8f47fd14f9f0e5578dac6a45ff74f
https://pubmed.ncbi.nlm.nih.gov/12136230

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Archival, demographic and genetic studies define a Sardinian sub-isolate as a suitable model for mapping complex traits

Autor: Mario Pirastu, Enrico Petretto, Daniela Bebbere, Laura Cornelia Clotilde Morelli, Giuseppina Casu, Paola Forabosco, Giovanni Battista Maestrale, Cristina Fraumene, Andrea Angius, Paola Maria Melis

Publikováno v: Human genetics. 109(2)

Genetic isolates represent exceptional resources for the mapping of complex traits but not all isolates are similar. We have selected a genetic and cultural isolate, the village of Talana from an isolated area of Sardinia, and propose that this popul

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::affd34f07260f51597501144ec788c9a
https://pubmed.ncbi.nlm.nih.gov/11511926

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Identification of a Novel Gene and a Common Variant Associated with Uric Acid Nephrolithiasis in a Sardinian Genetic Isolate

Autor: Mario Falchi, Fernando Gianfrancesco, Maria Neve Ombra, Paola Maria Melis, Giuseppe Maninchedda, Ivo Deiana, Mario Pirastu, Stefania Casula, Simona Vaccargiu, Giuseppina Casu, Francesco Cardia, Mauro Fattorini, Teresa Esposito, Paola Forabosco

Publikováno v: American journal of human genetics 72 (2003): 1479–1491. doi:10.1086/375628
info:cnr-pdr/source/autori:Gianfrancesco F, Esposito T, Ombra MN, Forabosco P, Maninchedda G, Fattorini M, Casula S, Vaccargiu S, Casu G, Cardia F, Deiana I, Melis P, Falchi M, Pirastu M./titolo:Identification of a novel gene and a common variant associated with uric acid nephrolithiasis in a Sardinian genetic isolate./doi:10.1086%2F375628/rivista:American journal of human genetics/anno:2003/pagina_da:1479/pagina_a:1491/intervallo_pagine:1479–1491/volume:72

Uric acid nephrolithiasis (UAN) is a common disease with an established genetic component that presents a complex mode of inheritance. While studying an ancient founder population in Talana, a village in Sardinia, we recently identified a susceptibil

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