IRIS
CALI', FRANCESCO
 Distribuzione geografica
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Continente #
NA - Nord America 2.217
AS - Asia 893
EU - Europa 430
SA - Sud America 272
Continente sconosciuto - Info sul continente non disponibili 121
AF - Africa 17
Totale 3.950
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Nazione #
US - Stati Uniti d'America 2.168
SG - Singapore 284
CN - Cina 215
BR - Brasile 208
IT - Italia 175
BD - Bangladesh 132
VN - Vietnam 118
IE - Irlanda 62
HK - Hong Kong 57
FR - Francia 36
SE - Svezia 36
DE - Germania 34
GB - Regno Unito 25
AR - Argentina 23
CA - Canada 19
MX - Messico 14
PL - Polonia 14
IN - India 12
TR - Turchia 12
ID - Indonesia 11
IQ - Iraq 11
CL - Cile 10
EC - Ecuador 10
NL - Olanda 9
UA - Ucraina 9
RU - Federazione Russa 8
CR - Costa Rica 7
PY - Paraguay 6
AZ - Azerbaigian 5
PH - Filippine 5
PK - Pakistan 5
AE - Emirati Arabi Uniti 4
BE - Belgio 4
CO - Colombia 4
FI - Finlandia 4
JM - Giamaica 4
VE - Venezuela 4
ZA - Sudafrica 4
AT - Austria 3
JO - Giordania 3
MA - Marocco 3
UY - Uruguay 3
AO - Angola 2
BO - Bolivia 2
CH - Svizzera 2
EG - Egitto 2
ES - Italia 2
KR - Corea 2
KZ - Kazakistan 2
LB - Libano 2
MY - Malesia 2
PE - Perù 2
PR - Porto Rico 2
PS - Palestinian Territory 2
TH - Thailandia 2
UZ - Uzbekistan 2
AL - Albania 1
BA - Bosnia-Erzegovina 1
BB - Barbados 1
BG - Bulgaria 1
BN - Brunei Darussalam 1
BW - Botswana 1
DZ - Algeria 1
GE - Georgia 1
HU - Ungheria 1
JP - Giappone 1
LT - Lituania 1
LV - Lettonia 1
LY - Libia 1
MR - Mauritania 1
NG - Nigeria 1
NP - Nepal 1
RS - Serbia 1
SA - Arabia Saudita 1
SN - Senegal 1
SV - El Salvador 1
TT - Trinidad e Tobago 1
Totale 3.829
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Città #
Dallas 997
San Jose 126
Phoenix 123
Ashburn 116
Singapore 93
Santa Clara 67
Dublin 61
Council Bluffs 60
Hong Kong 56
New York 51
Beijing 50
Ho Chi Minh City 47
Chicago 40
Hillsboro 23
Rome 23
Hanoi 22
Frankfurt am Main 15
São Paulo 15
Los Angeles 13
Warsaw 13
London 11
Milan 11
Naples 10
Catania 9
Orem 9
Bemidji 8
Rio de Janeiro 8
Bologna 7
Haiphong 7
Montreal 7
Seattle 7
Chandler 6
Curitiba 6
Jacksonville 6
Mexico City 6
San José 6
Abbeville 5
Baghdad 5
Brasília 5
Buffalo 5
Florence 5
Istanbul 5
Lấp Vò 5
Princeton 5
Boardman 4
Boston 4
Cachoeirinha 4
Concepción 4
Fortaleza 4
Helsinki 4
Hải Dương 4
Kocaeli 4
Limburg an der Lahn 4
Miami 4
Modena 4
North Kansas City 4
Porto Alegre 4
Queens 4
São Bernardo do Campo 4
West Jordan 4
Zhengzhou 4
Amman 3
Ann Arbor 3
Atlanta 3
Biên Hòa 3
Brussels 3
Cagliari 3
Cambridge 3
Da Nang 3
Dhaka 3
Goiânia 3
Guarulhos 3
Guayaquil 3
Houston 3
Joinville 3
Marília 3
Messina 3
Munich 3
Newark 3
Quito 3
Reston 3
San Francisco 3
San Jacinto 3
The Bronx 3
Thái Bình 3
Toronto 3
Anaheim 2
Assago 2
Augusta 2
Baku 2
Broadview 2
Bắc Giang 2
Bắc Ninh 2
Can Tho 2
Canoas 2
Capão da Canoa 2
Caruaru 2
Casablanca 2
Casoria 2
Charlotte 2
Totale 2.346
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Nome #
1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features 158
Lack of association of HOXA1 and HOXB1 mutations and autism in Sicilian (Italian) patiens 137
Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi Syndrome 74
Comparative multiplex dosage analysis in spinocerebellar ataxia type 2 patients 73
A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy 72
Genetic Screening of Tuberous Sclerosis Complex in Sicily with a Focus on Neurological Manifestations 72
Archaeogenetics and Landscape Dynamics in Sicily during the Holocene: A Review 63
Potential Association of the CSMD1 Gene with Moderate Intellectual Disability, Anxiety Disorder, and Obsessive–Compulsive Personality Traits 61
Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy 61
Genetic screening of tuberous sclerosis complex in Sicily with a focus on neurological manifestations 61
A de novo ARIH2 gene mutation was detected in a patient with autism spectrum disorders and intellectual disability 59
Juvenile myoclonic epilepsy with generallsed and focal electroencephalographic abnormalities: a case report with a molecular genetic study 59
Are Mutations in the DHRS9 Gene Causally Linked to Epilepsy? A Case Report 57
Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics 56
Human gene polymorphisms and the resistance to SARS-CoV-2 infection. 55
Allelic Variations in the Human Genes TMPRSS2 and CCR5, and the Resistance to Viral Infection by SARS-CoV-2 55
PLEKHG1: New Potential Candidate Gene for Periventricular White Matter Abnormalities 55
Strengthening the Role of PSMC5 as a Potential Gene Associated with Neurodevelopmental Disorders 53
Bioinformatic Evaluation of KLF13 Genetic Variant: Implications for Neurodevelopmental and Psychiatric Symptoms 53
Next Generation Sequencing and Electromyography Reveal the Involvement of the P2RX6 Gene in Myopathy 53
Unravelling the role of Neurotrimin (NTM), a member of the IgLON family, in mild intellectual disability and anxiety-like behaviors 52
A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype 52
KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review 52
Clinical Application of a Customized Gene Panel for Identifying Autism Spectrum Disorder-Associated Variants 52
Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies 51
Lack of association of {HOXA}1 and {HOXB}1 mutations and autism in Sicilian (Italian) patients 50
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM (TM) platform 50
Screening of subtelomeric rearrangements in autistic disorder: Identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation 50
Potential Role of ABCF2 Gene in Pudendal Nerve Neuropathy and Interstitial Cystitis 49
STXBP6 Gene Mutation: A New Form of SNAREopathy Leads to Developmental Epileptic Encephalopathy 49
Implications of a De Novo Variant in the SOX12 Gene in a Patient with Generalized Epilepsy, Intellectual Disability, and Childhood Emotional Behavioral Disorders 47
ZNF496 as Candidate Gene for Neurodevelopmental Disorders: Identification of a Pathogenic De Novo Frameshift Variant 46
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 44
PHF21A Related Disorder: Description of a New Case 44
Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene 43
Exploring the Role of FICD, a New Potential Gene Involved in Borderline Intellectual Functioning, Psychological and Metabolic Disorders 42
UNC5C: Novel Gene Associated with Psychiatric Disorders Impacts Dysregulation of Axon Guidance Pathways 42
Role of COMT V158M Polymorphism in the Development of Dystonia after Administration of Antipsychotic Drugs 41
Suggestive evidence for association of D2S2188 marker (2q31.1) with autism in 143 Sicilian (Italian) TRIO families 41
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 40
Novel SPINK5 variants in a patient with Netherton syndrome and intellectual disability. The diagnostic value of trichoscopy 39
PPP2R5E: New gene potentially involved in specific learning disorders and myopathy 38
An odd precocious case of progressive osseous heteroplasia 37
MAN2A2-related glycosylation defects in autism and cognitive delay 36
Specific Learning Disorders: Variation Analysis of 15 Candidate Genes in 9 Multiplex Families 36
Tracing European Founder Lineages in the Near Eastern mtDNA Pool 35
A Customized Next-Generation Sequencing-Based Panel to Identify Novel Genetic Variants in Dementing Disorders: A Pilot Study 34
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” 34
Functional Annotation of Genes Overlapping Copy Number Variants in Autistic Patients: Focus on Axon Pathfinding 33
TBC1D24 gene mRNA expression in a boy with early infantile epileptic encephalopathy-16 32
Autosomal Microsatellite and mtDNA Genetic Analysis in Sicily (Italy) 32
RFX3 Pathogenic Variants as a Rare Cause of Infantile Epileptic Spasms Syndrome 30
Differential Greek and northern African migrations to Sicily are supported by genetic evidence from the Y chromosome 30
Special Issue “Molecular Progression in Genome-Related Diseases” 29
Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome 29
Mutational analysis of EFHC1 gene in italian families with juvenile myoclonic epilepsy 29
Analysis of the gastrin-releasing peptide receptor gene in Italian patients with autism spectrum disorders 29
Unravelling the role of Neurotrimin (NTM), a member of the IgLON family, in mild intellectual disability and anxiety-like behaviors 29
Dissecting the Genetic Contribution of Tooth Agenesis 29
Assessing the Impact of Copy Number Variants on miRNA Genes in Autism by Monte Carlo Simulation 29
Association between haplotypes, Hind III‐VNTR alleles and mutations at the PAH locus in Sicily 28
NGS Approaches in Clinical Diagnostics: From Workflow to Disease-Specific Applications 27
Ancient human genomes suggest three ancestral populations for present-day Europeans 27
A methodological strategy for PAH genotyping in populations with a marked molecular heterogeneity of hyperphenylalaninemia 27
Cell line DNA typing in forensic genetics—the necessity of reliable standards 26
The Greeks in the West: genetic signatures of the Hellenic colonisation in southern Italy and Sicily 26
PAH Gene Mutations in the Sicilian Population: Association with Minihaplotypes and Expression Analysis 24
Moors and Saracens in Europe: estimating the medieval North African male legacy in southern Europe 24
DXYS156: a multi-purpose short tandem repeat locus for determination of sex, paternal and maternal geographic origins and DNA fingerprinting 23
Dental anxiety in patients with borderline intellectual functioning and patients with intellectual disabilities 23
Beyond STRs: Integrative Forensic Genomics from MPS to Genetic Genealogy and AI-Based Prediction 23
Aninteresting case of Piebaldism with café-au-lait macules and freckling: the use of targeted next-generation sequencing for molecular diagnosis 23
Genetic diversity within the R408W phenylketonuria mutation lineages in Europe 22
GRIN2A: involvement in movement disorders and intellectual disability without seizures 22
Novel compound heterozygous mutation in NPC1 gene cause Niemann–Pick disease type C with juvenile onset 22
Autosomal recessive spino-cerebellar ataxia type 10 (SCAR10): clinical presentation associated with c.289delA ANO10 gene variant 21
Phylogeographic Analysis of Haplogroup E3b (E-M215) Y Chromosomes Reveals Multiple Migratory Events Within and Out Of Africa 20
Potential Link Between a Disruptive CAPN6 Variant and Neurodevelopmental Disorders 20
Continental and subcontinental distributions of mtDNA control region types 20
Carrier screening for spinal muscular atrophy in Italian population 20
Mutations and polymorphisms of the PAH gene in Sicily: comparison with other DNA polymorphisms 19
The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape 19
Identification of human D lactate dehydrogenase deficiency 19
Investigating the role of a novel hemizygous FAAH2 variant in neurological and metabolic disorders 19
New Insights Into TRMT10A Syndrome: Case Report and Literature Review 19
mtDNA analysis of the human remains buried in the sarcophagus of Federico II 18
A De Novo USP24 Variant as a Candidate Driver in a Neurodevelopmental Disorder: Insights from Trio-Based Whole-Exome Sequencing 18
Novel c.C2254T (p.Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis 18
GENETIC RELATIONSHIPS OF BRASSICA VEGETABLES AND WILD RELATIVES IN SOUTHERN ITALY DETERMINED BY FIVE SSR 18
The STR252 - IVS10nt546 - VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples 17
Fibroblast Growth Factor Receptor 2 (FGFR2), a New Gene Involved in the Genesis of Autism Spectrum Disorder 17
SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Down’s syndrome subjects with undescended testes 17
Virtual Reality Versus Monitor-Based Distraction in Children with Mild Intellectual Disability: A Preliminary Comparative Observational Study 16
Dramatic brain aminergic deficit in a genetic mouse model of phenylketonuria 15
Population Structure in the Mediterranean Basin: A Y Chromosome Perspective 15
Molecular basis of mild hyperphenylalaninaemia in Turkey 15
The phenylketonuria mouse model: a meeting review 14
PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population 14
Towards a genetic history of Sicily 14
Genetic Heterogeneity in Five Italian Regions: Analysis of PAH Mutations and Minihaplotypes 14
Totale 3.776
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Categoria #
all - tutte 18.443
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 18.443
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/202218 0 0 0 4 0 0 1 1 1 4 0 7
2022/202339 4 4 0 3 4 5 2 6 4 1 4 2
2023/202443 3 4 3 2 3 2 3 3 4 8 6 2
2024/2025117 6 4 4 2 8 4 4 4 3 10 47 21
2025/20262.956 34 232 946 320 95 170 90 284 281 210 163 131
2026/2027755 69 119 264 303 0 0 0 0 0 0 0 0
Totale 3.950