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Estimation of metabolic syndrome heritability in three large populations including full pedigree and genomic information.
- Published in:
- Human Genetics, 2019, v. 138, n. 7, p. 739, doi. 10.1007/s00439-019-02024-6
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- Publication type:
- Article
Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error.
- Published in:
- Nature Communications, 2016, v. 7, n. 3, p. 11008, doi. 10.1038/ncomms11008
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- Publication type:
- Article
Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 19, p. 5655, doi. 10.1093/hmg/ddv279
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- Article
Phylogeny and Patterns of Diversity of Goat mtDNA Haplogroup A Revealed by Resequencing Complete Mitogenomes.
- Published in:
- PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0095969
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- Publication type:
- Article
Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 13, p. 2754
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- Publication type:
- Article
Environmental and Genetic Contribution to Hypertension Prevalence: Data from an Epidemiological Survey on Sardinian Genetic Isolates.
- Published in:
- PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0059612
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- Publication type:
- Article
Age- And Sex-Related Variations in Platelet Count in Italy: A Proposal of Reference Ranges Based on 40987 Subjects' Data.
- Published in:
- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0054289
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- Publication type:
- Article
Alteration of Liver Enzymes Is a Feature of the Myh9-Related Disease Syndrome.
- Published in:
- PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0035986
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- Publication type:
- Article
Epidemiology of Osteoporosis in an Isolated Sardinian Population by Using Quantitative Ultrasound.
- Published in:
- American Journal of Epidemiology, 2011, v. 174, n. 4, p. 432, doi. 10.1093/aje/kwr106
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- Publication type:
- Article
Epidemiology of Osteoporosis in an Isolated Sardinian Population by Using Quantitative Ultrasound.
- Published in:
- 2011
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- Publication type:
- Journal Article
Application of a New Method for GWAS in a Related Case/Control Sample with Known Pedigree Structure: Identification of New Loci for Nephrolithiasis.
- Published in:
- PLoS Genetics, 2011, v. 7, n. 1, p. 1, doi. 10.1371/journal.pgen.1001281
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- Publication type:
- Article
History, geography and population structure influence the distribution and heritability of blood and anthropometric quantitative traits in nine Sardinian genetic isolates.
- Published in:
- Genetics Research, 2010, v. 92, n. 3, p. 199, doi. 10.1017/S001667231000025X
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- Publication type:
- Article
High Differentiation among Eight Villages in a Secluded Area of Sardinia Revealed by Genome-Wide High Density SNPs Analysis.
- Published in:
- PLoS ONE, 2009, v. 4, n. 2, p. 1, doi. 10.1371/journal.pone.0004654
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- Publication type:
- Article
Patterns of Linkage Disequilibrium between SNPs in a Sardinian Population Isolate and the Selection of Markers for Association Studies.
- Published in:
- Human Heredity, 2008, v. 65, n. 1, p. 9, doi. 10.1159/000106058
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- Publication type:
- Article
High Resolution Analysis and Phylogenetic Network Construction Using Complete mtDNA Sequences in Sardinian Genetic Isolates.
- Published in:
- Molecular Biology & Evolution, 2006, v. 23, n. 11, p. 2101, doi. 10.1093/molbev/msl084
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- Publication type:
- Article
Ocular refraction: heritability and genome-wide search for eye morphometry traits in an isolated Sardinian population.
- Published in:
- Human Genetics, 2005, v. 116, n. 3, p. 152, doi. 10.1007/s00439-004-1231-6
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- Publication type:
- Article
Browsing Isolated Population Data.
- Published in:
- BMC Bioinformatics, 2005, v. 6, p. S17, doi. 10.1186/1471-2105-6-S4-S17
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- Publication type:
- Article
Striking differentiation of sub-populations within a genetically homogeneous isolate (Ogliastra) in Sardinia as revealed by mtDNA analysis.
- Published in:
- Human Genetics, 2003, v. 114, n. 1, p. 1, doi. 10.1007/s00439-003-1008-3
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- Publication type:
- Article
Not all isolates are equal: linkage disequilibrium analysis on Xq13.3 reveals different patterns in Sardinian sub-populations.
- Published in:
- Human Genetics, 2002, v. 111, n. 1, p. 9, doi. 10.1007/s00439-002-0753-z
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- Publication type:
- Article
Archival, demographic and genetic studies define a Sardinian sub-isolate as a suitable model for mapping complex traits.
- Published in:
- Human Genetics, 2001, v. 109, n. 2, p. 198, doi. 10.1007/s004390100557
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- Publication type:
- Article
Microsatellite analysis at 10q25-q26 in Sardinian patients with sporadic endometrial carcinoma: identification of specification patterns of genetic alteration.
- Published in:
- 2000
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- Publication type:
- journal article
Population choice in mapping genes for complex diseases.
- Published in:
- Nature Genetics, 1999, v. 23, n. 4, p. 397, doi. 10.1038/70501
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- Publication type:
- Article
Molecular characterization of Wilson disease in the Sardinian population-Evidence of a founder effect.
- Published in:
- Human Mutation, 1999, v. 14, n. 4, p. 294, doi. 10.1002/(SICI)1098-1004(199910)14:4<294::AID-HUMU4>3.0.CO;2-9
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- Publication type:
- Article
Complete congenital stationary night blindness maps on Xp11.4 in a Sardinian family.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 5, p. 574, doi. 10.1038/sj.ejhg.5200332
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- Publication type:
- Article
Haplotype and mutation analysis in Greek patients with Wilson disease.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 5, p. 487, doi. 10.1038/sj.ejhg.5200219
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- Publication type:
- Article
Further delineation of the molecular pathology of Wilson disease in the Mediterranean population.
- Published in:
- Human Mutation, 1998, v. 12, n. 2, p. 89, doi. 10.1002/(SICI)1098-1004(1998)12:2<89::AID-HUMU3>3.0.CO;2-G
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- Publication type:
- Article
A novel mediterranean 'δβ-thalassemia' determinant containing the δ<sup>+</sup>27 and β°39 point mutations in cis.
- Published in:
- American Journal of Hematology, 1994, v. 45, n. 1, p. 81, doi. 10.1002/ajh.2830450113
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- Publication type:
- Article
A new δ-chain variant hemoglobin A<sub>2</sub>-puglia or α<sub>2</sub>δ<sub>2</sub> 26 Glu→Asp (B8), detected by DNA analysis in a family of Southern Italian origin.
- Published in:
- Human Mutation, 1993, v. 2, n. 4, p. 327, doi. 10.1002/humu.1380020417
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- Publication type:
- Article
β THALASSAEMIA MUTATIONS IN MEDITERRANEAN POPULATIONS.
- Published in:
- British Journal of Haematology, 1989, v. 71, n. 3, p. 309, doi. 10.1111/j.1365-2141.1989.tb04285.x
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- Publication type:
- Article
Ferrara β<sup>0</sup> thalassaemia caused by the β<sup>39</sup> nonsense mutation.
- Published in:
- Nature, 1984, v. 307, n. 5946, p. 76, doi. 10.1038/307076a0
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- Publication type:
- Article