Search filters

List of works by Francesco Cali

1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features.

scientific article

A methodological strategy for PAH genotyping in populations with a marked molecular heterogeneity of hyperphenylalaninemia.

scientific article published in February 2001

A novel splice acceptor site mutation in the ATP2A2 gene in a family with Darier disease

scientific article published in October 2016

An interesting case of Piebaldism with cafè-au-lait macules and freckling: the use of targeted next-generation sequencing for molecular diagnosis.

scientific article published in February 2018

Analysis of the gastrin-releasing peptide receptor gene in Italian patients with autism spectrum disorders.

scientific article published on September 2008

Ancient human genomes suggest three ancestral populations for present-day Europeans

scientific article

Are Mutations in the DHRS9 Gene Causally Linked to Epilepsy? A Case Report

scientific article published on 01 August 2020

Assessing the impact of copy number variants on miRNA genes in autism by Monte Carlo simulation

scientific article

Association between haplotypes, hind III-VNTR alleles and mutations at the PAH locus in Sicily

scientific article

Autosomal microsatellite and mtDNA genetic analysis in Sicily (Italy).

scientific article

Carrier screening for spinal muscular atrophy in Italian population

article

Cell line DNA typing in forensic genetics--the necessity of reliable standards

scientific article published on December 2003

Comparative multiplex dosage analysis in spinocerebellar ataxia type 2 patients

scientific article published on 12 April 2013

Continental and subcontinental distributions of mtDNA control region types

scientific article

DXYS156: a multi-purpose short tandem repeat locus for determination of sex, paternal and maternal geographic origins and DNA fingerprinting

scientific article

Dental anxiety in patients with borderline intellectual functioning and patients with intellectual disabilities

scientific article

Differential Greek and northern African migrations to Sicily are supported by genetic evidence from the Y chromosome

scientific article

Dramatic brain aminergic deficit in a genetic mouse model of phenylketonuria

scientific article published on 01 April 2000

Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia

scientific article published on 01 January 1998

Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics.

scientific article

Functional annotation of genes overlapping copy number variants in autistic patients: focus on axon pathfinding

scientific article published on April 2010

Genetic diversity within the R408W phenylketonuria mutation lineages in Europe

scientific article published in April 2003

Genetic heterogeneity in five Italian regions: analysis of PAH mutations and minihaplotypes

scientific article

Identification of human D lactate dehydrogenase deficiency

scientific article published on 01 April 2019

Interpreting Genetic Variants: Hints from a Family Cluster of Parkinson's Disease

scientific article published on 01 January 2019

Juvenile myoclonic epilepsy with generalised and focal electroencephalographic abnormalities: a case report with a molecular genetic study

scientific article published on 31 October 2007

Lack of association of HOXA1 and HOXB1 mutations and autism in Sicilian (Italian) patients

scientific article published in August 2003

Maternal phenylketonuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P407L)

article

Moors and Saracens in Europe: estimating the medieval North African male legacy in southern Europe

scientific article

MtDNA control region and RFLP data for Sicily and France

scientific article

Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi syndrome

scientific article published on 7 January 2013

Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform

scientific article published on 9 November 2016

Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.

scientific article

Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy

scientific article published on 17 January 2019

Next Generation Sequencing and Electromyography Reveal the Involvement of the P2RX6 Gene in Myopathy

scientific article published in 2024

Novel c.C2254T (p.Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis

scientific article published on 01 December 2018

Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome

scientific article

PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population

article

PAH gene mutations in the Sicilian population: association with minihaplotypes and expression analysis

scientific article published in November 2001

Phylogeographic analysis of haplogroup E3b (E-M215) y chromosomes reveals multiple migratory events within and out of Africa

scientific article

Population structure in the Mediterranean basin: a Y chromosome perspective

scientific article (publication date: March 2006)

Preliminary studies on the molecular basis of hyperphenylalaninemia in Egypt

scientific article published on July 1996

RFLP discordance in a PKU family due to a deletion in the PAH gene

article

SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Down's syndrome subjects with undescended testes

scientific article published in April 2009

SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Sicilian patients with melanoma

scientific article published in August 2008

Screening of subtelomeric rearrangements in autistic disorder: identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation

scientific article published in September 2006

Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation.

scientific article published in May 2005

Suggestive evidence for association of D2S2188 marker (2q31.1) with autism in 143 Sicilian (Italian) TRIO families

scientific article published in June 2005

The Greeks in the West: genetic signatures of the Hellenic colonisation in southern Italy and Sicily

scientific article

The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape

scientific article

The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape.

scientific article

The STR252-IVS10nt546-VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples

scientific article published in September 1997

The phenylketonuria mouse model: a meeting review

scientific article

Two novel PAH gene mutations detected in Italian phenylketonuric patients

article

UNC5C: Novel Gene Associated with Psychiatric Disorders Impacts Dysregulation of Axon Guidance Pathways

scientific article published in 2024

Paulina is supported by:

About Paulina

Help