about
Ancient human genomes suggest three ancestral populations for present-day EuropeansPhylogeographic analysis of haplogroup E3b (E-M215) y chromosomes reveals multiple migratory events within and out of AfricaMoors and Saracens in Europe: estimating the medieval North African male legacy in southern EuropeDifferential Greek and northern African migrations to Sicily are supported by genetic evidence from the Y chromosomePopulation structure in the Mediterranean basin: a Y chromosome perspectiveThe Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic LandscapeMtDNA control region and RFLP data for Sicily and France.Autosomal microsatellite and mtDNA genetic analysis in Sicily (Italy).Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome.The Greeks in the West: genetic signatures of the Hellenic colonisation in southern Italy and Sicily1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features.Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.Assessing the impact of copy number variants on miRNA genes in autism by Monte Carlo simulation.Dental anxiety in patients with borderline intellectual functioning and patients with intellectual disabilities.Functional annotation of genes overlapping copy number variants in autistic patients: focus on axon pathfinding.Preliminary studies on the molecular basis of hyperphenylalaninemia in Egypt.Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics.Cell line DNA typing in forensic genetics--the necessity of reliable standards.The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape.Analysis of the gastrin-releasing peptide receptor gene in Italian patients with autism spectrum disorders.A methodological strategy for PAH genotyping in populations with a marked molecular heterogeneity of hyperphenylalaninemia.Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi syndrome.Genetic heterogeneity in five Italian regions: analysis of PAH mutations and minihaplotypes.PAH gene mutations in the Sicilian population: association with minihaplotypes and expression analysis.Association between haplotypes, hind III-VNTR alleles and mutations at the PAH locus in Sicily.The phenylketonuria mouse model: a meeting review.DXYS156: a multi-purpose short tandem repeat locus for determination of sex, paternal and maternal geographic origins and DNA fingerprinting.Genetic diversity within the R408W phenylketonuria mutation lineages in Europe.Juvenile myoclonic epilepsy with generalised and focal electroencephalographic abnormalities: a case report with a molecular genetic study.The STR252-IVS10nt546-VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples.SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Down's syndrome subjects with undescended testes.Continental and subcontinental distributions of mtDNA control region types.SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Sicilian patients with melanoma.An interesting case of Piebaldism with cafè-au-lait macules and freckling: the use of targeted next-generation sequencing for molecular diagnosis.Screening of subtelomeric rearrangements in autistic disorder: identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation.Suggestive evidence for association of D2S2188 marker (2q31.1) with autism in 143 Sicilian (Italian) TRIO families.Lack of association of HOXA1 and HOXB1 mutations and autism in Sicilian (Italian) patients.Comparative multiplex dosage analysis in spinocerebellar ataxia type 2 patients.Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform.A novel splice acceptor site mutation in the ATP2A2 gene in a family with Darier disease.
P50
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P50
description
hulumtues
@sq
researcher
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wetenschapper
@nl
հետազոտող
@hy
name
Francesco Cali
@ast
Francesco Cali
@en
Francesco Cali
@es
Francesco Cali
@fr
Francesco Cali
@nl
Francesco Cali
@sl
type
label
Francesco Cali
@ast
Francesco Cali
@en
Francesco Cali
@es
Francesco Cali
@fr
Francesco Cali
@nl
Francesco Cali
@sl
prefLabel
Francesco Cali
@ast
Francesco Cali
@en
Francesco Cali
@es
Francesco Cali
@fr
Francesco Cali
@nl
Francesco Cali
@sl
P1053
D-9178-2017
P106
P1153
55335472900
P21
P31
P3829
P496
0000-0001-8667-8223