Haplotype affinities resolve a major component of goat (Capra hircus) MtDNA D-loop diversity and reveal specific features of the Sardinian stock.

Autor: Daniela Piras, Maria Grazia Doro, Giuseppina Casu, Paola Maria Melis, Simona Vaccargiu, Ignazio Piras, Debora Parracciani, Roberta Stradoni, Bruno Frongia, Graziano Lai, Salvatore Sale, Walter Cattari, Roberto Piras, Ombretta Querci, Piergiorgio Demuro, Sandro Cui, Franco Atzori, Marco Mancosu, Francesca Marchiori, Rossana Cammelli, Alessandra Spiga, Pier Paolo Loddo, Gianfranco Pili, Roberto Boi, Giuseppe Argiolas, Paolo Mereu, Giovanni Giuseppe Leoni, Salvatore Naitana, Mario Pirastu, Andrea Novelletto

Publikováno v: 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://doaj.org/article/b4b21cdb95d0458f9f7fbff7c1cdd0eb

Nuove indagini per l’analisi 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

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

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

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2caf9639e69665793615d7b3b34dbc26