IRIS
CALI', FRANCESCO
 Distribuzione geografica
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Continente #
NA - Nord America 1.039
AS - Asia 291
SA - Sud America 201
EU - Europa 74
AF - Africa 6
Totale 1.611
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Nazione #
US - Stati Uniti d'America 1.030
BR - Brasile 161
SG - Singapore 109
VN - Vietnam 107
CN - Cina 26
IT - Italia 23
HK - Hong Kong 22
AR - Argentina 16
IE - Irlanda 15
DE - Germania 10
CL - Cile 7
EC - Ecuador 6
ID - Indonesia 6
BD - Bangladesh 5
GB - Regno Unito 5
MX - Messico 5
RU - Federazione Russa 5
TR - Turchia 5
CA - Canada 4
FR - Francia 4
PY - Paraguay 4
VE - Venezuela 4
IQ - Iraq 3
AO - Angola 2
AT - Austria 2
FI - Finlandia 2
AZ - Azerbaigian 1
BA - Bosnia-Erzegovina 1
BN - Brunei Darussalam 1
BO - Bolivia 1
BW - Botswana 1
EG - Egitto 1
IN - India 1
KR - Corea 1
KZ - Kazakistan 1
LT - Lituania 1
LV - Lettonia 1
MA - Marocco 1
NL - Olanda 1
PE - Perù 1
PK - Pakistan 1
PL - Polonia 1
PS - Palestinian Territory 1
RS - Serbia 1
SE - Svezia 1
UA - Ucraina 1
UY - Uruguay 1
UZ - Uzbekistan 1
ZA - Sudafrica 1
Totale 1.611
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Città #
Dallas 984
Singapore 42
Ho Chi Minh City 41
Hong Kong 21
Hanoi 20
Ashburn 15
Dublin 15
Beijing 12
São Paulo 11
Haiphong 7
Curitiba 5
Frankfurt am Main 5
Istanbul 5
Milan 5
Brasília 4
Cachoeirinha 4
Concepción 4
Fortaleza 4
Hải Dương 4
Lấp Vò 4
Santa Clara 4
São Bernardo do Campo 4
Biên Hòa 3
Da Nang 3
Guarulhos 3
Joinville 3
Los Angeles 3
Marília 3
Mexico City 3
Montreal 3
Rio de Janeiro 3
Thái Bình 3
Assago 2
Baghdad 2
Bắc Giang 2
Bắc Ninh 2
Can Tho 2
Capão da Canoa 2
Caruaru 2
Catania 2
Dongguan 2
Goiânia 2
Guayaquil 2
Helsinki 2
Huế 2
Jundiaí 2
Laferrere 2
Luanda 2
Manaus 2
Messina 2
Munich 2
Piracicaba 2
Porto Alegre 2
Quito 2
Resistencia 2
Rio Claro 2
San Bernardo 2
Santo André 2
São Vicente 2
West Jordan 2
Agadir 1
Alexandria 1
Almirante Brown 1
Altamira 1
Amparo 1
Ananindeua 1
Aparecida do Taboado 1
Araguari 1
Arapiraca 1
Arlington 1
Bagé 1
Baku 1
Balakovo 1
Bandar Seri Begawan 1
Banjar Badung 1
Barra Bonita 1
Barueri 1
Bathinda 1
Belo Horizonte 1
Betim 1
Bexley 1
Birigui 1
Boa Viagem 1
Boardman 1
Boston 1
Bromley 1
Bình An 1
Cabo de Santo Agostinho 1
Cachoeiro de Itapemirim 1
Campinas 1
Campo Limpo Paulista 1
Campos dos Goytacazes 1
Canoas 1
Carapicuíba 1
Caxias do Sul 1
Chicago 1
Colinas 1
Congonhas 1
Criciúma 1
Cuiabá 1
Totale 1.346
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Nome #
1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features 139
Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi Syndrome 63
Comparative multiplex dosage analysis in spinocerebellar ataxia type 2 patients 58
A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy 51
Juvenile myoclonic epilepsy with generallsed and focal electroencephalographic abnormalities: a case report with a molecular genetic study 44
Genetic Screening of Tuberous Sclerosis Complex in Sicily with a Focus on Neurological Manifestations 43
A de novo ARIH2 gene mutation was detected in a patient with autism spectrum disorders and intellectual disability 42
Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics 42
Genetic screening of tuberous sclerosis complex in Sicily with a focus on neurological manifestations 42
Next Generation Sequencing and Electromyography Reveal the Involvement of the P2RX6 Gene in Myopathy 40
Archaeogenetics and Landscape Dynamics in Sicily during the Holocene: A Review 38
Bioinformatic Evaluation of KLF13 Genetic Variant: Implications for Neurodevelopmental and Psychiatric Symptoms 37
PLEKHG1: New Potential Candidate Gene for Periventricular White Matter Abnormalities 36
Clinical Application of a Customized Gene Panel for Identifying Autism Spectrum Disorder-Associated Variants 36
Lack of association of {HOXA}1 and {HOXB}1 mutations and autism in Sicilian (Italian) patients 35
Potential Role of ABCF2 Gene in Pudendal Nerve Neuropathy and Interstitial Cystitis 33
STXBP6 Gene Mutation: A New Form of SNAREopathy Leads to Developmental Epileptic Encephalopathy 32
Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies 32
Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy 32
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM (TM) platform 32
PHF21A Related Disorder: Description of a New Case 31
Screening of subtelomeric rearrangements in autistic disorder: Identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation 31
Strengthening the Role of PSMC5 as a Potential Gene Associated with Neurodevelopmental Disorders 29
KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review 29
Role of COMT V158M Polymorphism in the Development of Dystonia after Administration of Antipsychotic Drugs 29
UNC5C: Novel Gene Associated with Psychiatric Disorders Impacts Dysregulation of Axon Guidance Pathways 29
Implications of a De Novo Variant in the SOX12 Gene in a Patient with Generalized Epilepsy, Intellectual Disability, and Childhood Emotional Behavioral Disorders 28
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 28
Suggestive evidence for association of D2S2188 marker (2q31.1) with autism in 143 Sicilian (Italian) TRIO families 28
Are Mutations in the DHRS9 Gene Causally Linked to Epilepsy? A Case Report 28
Novel SPINK5 variants in a patient with Netherton syndrome and intellectual disability. The diagnostic value of trichoscopy 27
Implementation of Sample Pooling Procedure Using a Rapid SARS-CoV-2 Diagnostic Real-Time PCR Test Performed Prior to Hospital Admission of People with Intellectual Disabilities 26
Exploring the Role of FICD, a New Potential Gene Involved in Borderline Intellectual Functioning, Psychological and Metabolic Disorders 25
ZNF496 as Candidate Gene for Neurodevelopmental Disorders: Identification of a Pathogenic De Novo Frameshift Variant 25
Potential Association of the CSMD1 Gene with Moderate Intellectual Disability, Anxiety Disorder, and Obsessive–Compulsive Personality Traits 24
An odd precocious case of progressive osseous heteroplasia 24
Letter to the Editor Regarding the Article “Whole-Exome Sequencing in NF1-Related West's Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy” 23
Specific Learning Disorders: Variation Analysis of 15 Candidate Genes in 9 Multiplex Families 20
TBC1D24 gene mRNA expression in a boy with early infantile epileptic encephalopathy-16 18
Association between haplotypes, Hind III‐VNTR alleles and mutations at the PAH locus in Sicily 12
A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype 12
Mutational analysis of EFHC1 gene in italian families with juvenile myoclonic epilepsy 11
Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene 10
Cell line DNA typing in forensic genetics—the necessity of reliable standards 10
Autosomal Microsatellite and mtDNA Genetic Analysis in Sicily (Italy) 10
Analysis of the gastrin-releasing peptide receptor gene in Italian patients with autism spectrum disorders 9
Ancient human genomes suggest three ancestral populations for present-day Europeans 9
Dental anxiety in patients with borderline intellectual functioning and patients with intellectual disabilities 8
A Customized Next-Generation Sequencing-Based Panel to Identify Novel Genetic Variants in Dementing Disorders: A Pilot Study 8
Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome 7
Tracing European Founder Lineages in the Near Eastern mtDNA Pool 7
A methodological strategy for PAH genotyping in populations with a marked molecular heterogeneity of hyperphenylalaninemia 7
Novel compound heterozygous mutation in NPC1 gene cause Niemann–Pick disease type C with juvenile onset 7
Functional Annotation of Genes Overlapping Copy Number Variants in Autistic Patients: Focus on Axon Pathfinding 6
Differential Greek and northern African migrations to Sicily are supported by genetic evidence from the Y chromosome 6
Moors and Saracens in Europe: estimating the medieval North African male legacy in southern Europe 6
The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape 6
The Greeks in the West: genetic signatures of the Hellenic colonisation in southern Italy and Sicily 6
Assessing the Impact of Copy Number Variants on miRNA Genes in Autism by Monte Carlo Simulation 6
Investigating the role of a novel hemizygous FAAH2 variant in neurological and metabolic disorders 6
Aninteresting case of Piebaldism with café-au-lait macules and freckling: the use of targeted next-generation sequencing for molecular diagnosis 6
Carrier screening for spinal muscular atrophy in Italian population 6
Genetic Heterogeneity in Five Italian Regions: Analysis of PAH Mutations and Minihaplotypes 6
Mutations and polymorphisms of the PAH gene in Sicily: comparison with other DNA polymorphisms 5
MAN2A2-related glycosylation defects in autism and cognitive delay 5
Novel c.C2254T (p.Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis 5
Continental and subcontinental distributions of mtDNA control region types 5
Identification of human D lactate dehydrogenase deficiency 5
Autosomal recessive spino-cerebellar ataxia type 10 (SCAR10): clinical presentation associated with c.289delA ANO10 gene variant 5
DXYS156: a multi-purpose short tandem repeat locus for determination of sex, paternal and maternal geographic origins and DNA fingerprinting 4
PPP2R5E: New gene potentially involved in specific learning disorders and myopathy 4
PAH Gene Mutations in the Sicilian Population: Association with Minihaplotypes and Expression Analysis 4
Fibroblast Growth Factor Receptor 2 (FGFR2), a New Gene Involved in the Genesis of Autism Spectrum Disorder 4
The phenylketonuria mouse model: a meeting review 4
SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Down’s syndrome subjects with undescended testes 4
MtDNA control region and RFLP data for Sicily and France 4
Dramatic brain aminergic deficit in a genetic mouse model of phenylketonuria 4
Population Structure in the Mediterranean Basin: A Y Chromosome Perspective 4
Molecular basis of mild hyperphenylalaninaemia in Turkey 4
GENETIC RELATIONSHIPS OF BRASSICA VEGETABLES AND WILD RELATIVES IN SOUTHERN ITALY DETERMINED BY FIVE SSR 4
Towards a genetic history of Sicily 4
The STR252 - IVS10nt546 - VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples 3
Phylogeographic Analysis of Haplogroup E3b (E-M215) Y Chromosomes Reveals Multiple Migratory Events Within and Out Of Africa 3
mtDNA analysis of the human remains buried in the sarcophagus of Federico II 3
SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Sicilian patients with melanoma 3
Genetic diversity within the R408W phenylketonuria mutation lineages in Europe 3
GRIN2A: involvement in movement disorders and intellectual disability without seizures 3
New Insights Into TRMT10A Syndrome: Case Report and Literature Review 3
Preliminary studies on the molecular basis of hyperphenylalaninemia in Egypt 3
PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population 3
Maternal phenylketonuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P407L) 2
Two novel PAH gene mutations detected in Italian phenylketonuric patients 2
Skewed X‐inactivation in a family with mental retardation and PQBP1 gene mutation 2
Totale 1.707
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Categoria #
all - tutte 5.871
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 5.871
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/202411 0 0 0 0 0 0 0 1 2 4 3 1
2024/202590 3 2 2 1 6 3 1 2 2 6 43 19
2025/20261.606 29 218 932 295 92 40 0 0 0 0 0 0
Totale 1.707