The Greeks in the West: genetic signatures of the Hellenic colonisation in southern Italy and Sicily.
European Journal of Human Genetics 24(3):429 (2016)
Greek colonisation of South Italy and Sicily (Magna Graecia) was a defining event in European cultural history, although the demographic processes and genetic impacts involved have not been systematically investigated. Here, we combine high-resolution surveys of the variability at the uni-parent...
The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape
Current Biology 25(21):2878 (2015)
The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape.
Current Biology 25(19):2518 (2015)
Over the past few years, studies of DNA isolated from human fossils and archaeological remains have generated considerable novel insight into the history of our species. Several landmark papers have described the genomes of ancient humans across West Eurasia, demonstrating the presence of large-...
Ancient human genomes suggest three ancestral populations for present-day Europeans.
Nature 513(7518):409 (2014)
We sequenced the genomes of a ∼7,000-year-old farmer from Germany and eight ∼8,000-year-old hunter-gatherers from Luxembourg and Sweden. We analysed these and other ancient genomes with 2,345 contemporary humans to show that most present-day Europeans derive from at least three highly differenti...
Carrier screening for spinal muscular atrophy in Italian population.
Journal of Genetics 93(1):179 (2014)
Assessing the impact of copy number variants on miRNA genes in autism by Monte Carlo simulation.
PLoS ONE 9(3):e90947 (2014)
Autism Spectrum Disorders (ASDs) are childhood neurodevelopmental disorders with complex genetic origins. Previous studies have investigated the role of de novo Copy Number Variants (CNVs) and microRNAs as important but distinct etiological factors in ASD. We developed a novel computational proc...
Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome.
Experimental & molecular medicine 42(12):842 (2010)
Angelman syndrome (AS) is a severe neurobehavioural disorder caused by failure of expression of the maternal copy of the imprinted domain located on 15q11-q13. There are different mechanisms leading to AS: maternal microdeletion, uniparental disomy, defects in a putative imprinting centre, mutat...
Functional annotation of genes overlapping copy number variants in autistic patients: focus on axon pathfinding.
Current Genomics 11(2):136 (2010)
We have used Gene Ontology (GO) and pathway analyses to uncover the common functions associated to the genes overlapping Copy Number Variants (CNVs) in autistic patients. Our source of data were four published studies [1-4]. We first applied a two-step enrichment strategy for autism-specific gen...
Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics.
Experimental & molecular medicine 42(2):81 (2010)
A consistent finding of many studies describing the spectrum of mutant phenylalanine hydroxylase (PAH) alleles underlying hyperphenylalaninemia is the impossibility of achieving a 100% mutation ascertainment rate using conventional gene-scanning methods. These methods include denaturing gradient...
Moors and Saracens in Europe: estimating the medieval North African male legacy in southern Europe.
European Journal of Human Genetics 17(6):848 (2009)
To investigate the male genetic legacy of the Arab rule in southern Europe during medieval times, we focused on specific Northwest African haplogroups and identified evolutionary close STR-defined haplotypes in Iberia, Sicily and the Italian peninsula. Our results point to a higher recent Northw...
SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Down's syndrome subjects with undescended testes.
Journal of Genetics 88(1):93 (2009)
Differential Greek and northern African migrations to Sicily are supported by genetic evidence from the Y chromosome.
European Journal of Human Genetics 17(1):91 (2009)
The presence or absence of genetic heterogeneity in Sicily has long been debated. Through the analysis of the variation of Y-chromosome lineages, using the combination of haplogroups and short tandem repeats from several areas of Sicily, we show that traces of genetic flows occurred in the islan...
SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Sicilian patients with melanoma.
Melanoma Research 18(4):295 (2008)
The incidence of melanoma has dramatically increased in many countries (it is 4.5 cases every 100 000 inhabitants in Sicily) and Xq27 region contains genes important in cancer like the SPANX (sperm protein associated with the nucleus in the X chromosome) gene family. These genes, made up of two ...
Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.
Epilepsia 48(9):1686 (2007)
Mutations in the EFHC1 gene have been reported in six juvenile myoclonic epilepsy (JME) families from Mexico and Belize. In this study, we screened 27 unrelated JME Italian families for mutations in the EFHC1 gene.
Twenty-seven families (86 affected individuals, 52 women) with at least two affec...
Screening of subtelomeric rearrangements in autistic disorder: identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation.
American Journal of Medical Genetics. Part B: N... 141B(6):584 (2006)
Within the framework of a FISH screening protocol to detect cryptic subtelomeric rearrangements in autistic disorder (AD), a patient bearing three copies of the subtelomeric portion of the q arm of chromosome 13 has been identified. Beside AD, the patient also has severe mental retardation and d...
Suggestive evidence for association of D2S2188 marker (2q31.1) with autism in 143 Sicilian (Italian) TRIO families.
Psychiatric Genetics 15(2):149 (2005)
We have screened 143 Sicilian (Italian) families with one autistic child to verify, by a linkage disequilibrium approach, the involvement of the 2q31.1 region in the cause of the disease in these families. Our study design includes the use of intrafamilial association to prevent a population str...
mtDNA analysis of the human remains buried in the sarcophagus of Federico II
Journal of Cultural Heritage 6(4):313 (2005)
The sarcophagus containing the remains of Federico II, located in the Cathedral of Palermo (Sicily, Italy), was opened on 1998 to perform a multidisciplinary survey . Next to the remains of Federico II and in close contact with them were laying two other skeletons belonging, according to...
Phylogeographic analysis of haplogroup E3b (E-M215) y chromosomes reveals multiple migratory events within and out of Africa.
The American Journal of Human Genetics 74(5):1014 (2004)
We explored the phylogeography of human Y-chromosomal haplogroup E3b by analyzing 3401 individuals from five continents. Our data refine the phylogeny of the entire haplogroup, which appears as a collection of lineages with very different evolutionary histories, and reveal signatures of several ...
Phylogeographic Analysis of Haplogroup E3b (E-M215) Y Chromosomes Reveals Multiple Migratory Events Within and Out Of Africa
The American Journal of Human Genetics 74(5):1014 (2004)
We explored the phylogeography of human Y-chromosomal haplogroup E3b by analyzing 3,401 individuals from five continents. Our data refine the phylogeny of the entire haplogroup, which appears as a collection of lineages with very different evolutionary histories, and reveal signatures of se...
Cell line DNA typing in forensic genetics--the necessity of reliable standards.
Forensic Science International 138(1-3):37 (2003)
The incorporation of reference DNA is crucial to the validation of any DNA typing protocol. This paper aims to provide a panel of reference DNAs for actual forensic profiling strategies, i.e. autosomal and gonosomal STR typing as well as mtDNA sequencing. We have characterised three human lympho...