IRIS
CALI', FRANCESCO
 Distribuzione geografica
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Continente #
NA - Nord America 1.546
AS - Asia 792
SA - Sud America 237
EU - Europa 225
AF - Africa 16
Totale 2.816
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Nazione #
US - Stati Uniti d'America 1.521
SG - Singapore 265
CN - Cina 201
BR - Brasile 180
VN - Vietnam 111
IT - Italia 98
BD - Bangladesh 96
HK - Hong Kong 47
FR - Francia 32
DE - Germania 27
AR - Argentina 21
IE - Irlanda 15
PL - Polonia 14
MX - Messico 12
IN - India 11
IQ - Iraq 11
CA - Canada 8
CL - Cile 8
EC - Ecuador 8
GB - Regno Unito 8
ID - Indonesia 8
TR - Turchia 8
NL - Olanda 7
RU - Federazione Russa 7
AZ - Azerbaigian 5
PK - Pakistan 5
PY - Paraguay 5
CO - Colombia 4
CR - Costa Rica 4
PH - Filippine 4
VE - Venezuela 4
ZA - Sudafrica 4
AE - Emirati Arabi Uniti 3
AT - Austria 3
FI - Finlandia 3
JO - Giordania 3
MA - Marocco 3
UA - Ucraina 3
UY - Uruguay 3
AO - Angola 2
BO - Bolivia 2
EG - Egitto 2
KZ - Kazakistan 2
PE - Perù 2
PS - Palestinian Territory 2
SE - Svezia 2
TH - Thailandia 2
UZ - Uzbekistan 2
AL - Albania 1
BA - Bosnia-Erzegovina 1
BG - Bulgaria 1
BN - Brunei Darussalam 1
BW - Botswana 1
DZ - Algeria 1
GE - Georgia 1
JM - Giamaica 1
JP - Giappone 1
KR - Corea 1
LB - Libano 1
LT - Lituania 1
LV - Lettonia 1
LY - Libia 1
MR - Mauritania 1
MY - Malesia 1
NG - Nigeria 1
RS - Serbia 1
Totale 2.816
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Città #
Dallas 988
San Jose 113
Ashburn 92
Singapore 87
Hong Kong 46
Ho Chi Minh City 45
Beijing 42
New York 35
Chicago 25
Hillsboro 23
Hanoi 20
Dublin 15
São Paulo 13
Warsaw 13
Frankfurt am Main 12
Santa Clara 11
Los Angeles 9
Orem 9
Council Bluffs 8
Rome 8
Haiphong 7
Milan 7
Naples 7
Baghdad 5
Curitiba 5
Istanbul 5
Mexico City 5
Montreal 5
Bologna 4
Brasília 4
Cachoeirinha 4
Catania 4
Concepción 4
Fortaleza 4
Hải Dương 4
Limburg an der Lahn 4
Lấp Vò 4
Modena 4
Rio de Janeiro 4
São Bernardo do Campo 4
Zhengzhou 4
Amman 3
Biên Hòa 3
Boardman 3
Buffalo 3
Da Nang 3
Goiânia 3
Guarulhos 3
Helsinki 3
Joinville 3
Marília 3
Messina 3
North Kansas City 3
Porto Alegre 3
Reston 3
San José 3
Thái Bình 3
Assago 2
Baku 2
Bắc Giang 2
Bắc Ninh 2
Cagliari 2
Can Tho 2
Canoas 2
Capão da Canoa 2
Caruaru 2
Casablanca 2
Chennai 2
Dhaka 2
Dongguan 2
Duhok 2
Erbil 2
Florence 2
Genoa 2
Guayaquil 2
Huế 2
Johannesburg 2
Jundiaí 2
La Paz 2
Laferrere 2
Luanda 2
Manaus 2
Montevideo 2
Munich 2
Nuremberg 2
Palermo 2
Piracicaba 2
Quito 2
Resistencia 2
Rio Claro 2
San Bernardo 2
Santo André 2
São Vicente 2
Tashkent 2
West Jordan 2
Acaraú 1
Agadir 1
Ahmedabad 1
Aksay 1
Akşehir 1
Totale 1.841
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Nome #
1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features 151
Comparative multiplex dosage analysis in spinocerebellar ataxia type 2 patients 69
Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi Syndrome 68
Genetic Screening of Tuberous Sclerosis Complex in Sicily with a Focus on Neurological Manifestations 65
A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy 63
Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy 57
Genetic screening of tuberous sclerosis complex in Sicily with a focus on neurological manifestations 57
Archaeogenetics and Landscape Dynamics in Sicily during the Holocene: A Review 56
A de novo ARIH2 gene mutation was detected in a patient with autism spectrum disorders and intellectual disability 55
Juvenile myoclonic epilepsy with generallsed and focal electroencephalographic abnormalities: a case report with a molecular genetic study 55
Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics 51
PLEKHG1: New Potential Candidate Gene for Periventricular White Matter Abnormalities 49
Potential Association of the CSMD1 Gene with Moderate Intellectual Disability, Anxiety Disorder, and Obsessive–Compulsive Personality Traits 48
Next Generation Sequencing and Electromyography Reveal the Involvement of the P2RX6 Gene in Myopathy 48
Screening of subtelomeric rearrangements in autistic disorder: Identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation 48
Bioinformatic Evaluation of KLF13 Genetic Variant: Implications for Neurodevelopmental and Psychiatric Symptoms 47
Are Mutations in the DHRS9 Gene Causally Linked to Epilepsy? A Case Report 46
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM (TM) platform 46
Unravelling the role of Neurotrimin (NTM), a member of the IgLON family, in mild intellectual disability and anxiety-like behaviors 45
STXBP6 Gene Mutation: A New Form of SNAREopathy Leads to Developmental Epileptic Encephalopathy 45
Clinical Application of a Customized Gene Panel for Identifying Autism Spectrum Disorder-Associated Variants 45
Strengthening the Role of PSMC5 as a Potential Gene Associated with Neurodevelopmental Disorders 44
Lack of association of {HOXA}1 and {HOXB}1 mutations and autism in Sicilian (Italian) patients 44
Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies 43
Potential Role of ABCF2 Gene in Pudendal Nerve Neuropathy and Interstitial Cystitis 42
KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review 42
Implications of a De Novo Variant in the SOX12 Gene in a Patient with Generalized Epilepsy, Intellectual Disability, and Childhood Emotional Behavioral Disorders 42
PHF21A Related Disorder: Description of a New Case 41
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 40
A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype 39
Exploring the Role of FICD, a New Potential Gene Involved in Borderline Intellectual Functioning, Psychological and Metabolic Disorders 38
Suggestive evidence for association of D2S2188 marker (2q31.1) with autism in 143 Sicilian (Italian) TRIO families 38
ZNF496 as Candidate Gene for Neurodevelopmental Disorders: Identification of a Pathogenic De Novo Frameshift Variant 37
Novel SPINK5 variants in a patient with Netherton syndrome and intellectual disability. The diagnostic value of trichoscopy 36
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 36
Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene 35
Role of COMT V158M Polymorphism in the Development of Dystonia after Administration of Antipsychotic Drugs 35
Specific Learning Disorders: Variation Analysis of 15 Candidate Genes in 9 Multiplex Families 34
UNC5C: Novel Gene Associated with Psychiatric Disorders Impacts Dysregulation of Axon Guidance Pathways 34
PPP2R5E: New gene potentially involved in specific learning disorders and myopathy 31
An odd precocious case of progressive osseous heteroplasia 31
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” 30
TBC1D24 gene mRNA expression in a boy with early infantile epileptic encephalopathy-16 28
Tracing European Founder Lineages in the Near Eastern mtDNA Pool 28
Functional Annotation of Genes Overlapping Copy Number Variants in Autistic Patients: Focus on Axon Pathfinding 27
MAN2A2-related glycosylation defects in autism and cognitive delay 25
Autosomal Microsatellite and mtDNA Genetic Analysis in Sicily (Italy) 25
A Customized Next-Generation Sequencing-Based Panel to Identify Novel Genetic Variants in Dementing Disorders: A Pilot Study 25
NGS Approaches in Clinical Diagnostics: From Workflow to Disease-Specific Applications 23
Analysis of the gastrin-releasing peptide receptor gene in Italian patients with autism spectrum disorders 22
Dissecting the Genetic Contribution of Tooth Agenesis 21
Special Issue “Molecular Progression in Genome-Related Diseases” 20
Association between haplotypes, Hind III‐VNTR alleles and mutations at the PAH locus in Sicily 20
Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome 20
Moors and Saracens in Europe: estimating the medieval North African male legacy in southern Europe 20
Cell line DNA typing in forensic genetics—the necessity of reliable standards 20
A methodological strategy for PAH genotyping in populations with a marked molecular heterogeneity of hyperphenylalaninemia 20
Ancient human genomes suggest three ancestral populations for present-day Europeans 19
Mutational analysis of EFHC1 gene in italian families with juvenile myoclonic epilepsy 18
The Greeks in the West: genetic signatures of the Hellenic colonisation in southern Italy and Sicily 18
Unravelling the role of Neurotrimin (NTM), a member of the IgLON family, in mild intellectual disability and anxiety-like behaviors 17
Assessing the Impact of Copy Number Variants on miRNA Genes in Autism by Monte Carlo Simulation 17
Novel compound heterozygous mutation in NPC1 gene cause Niemann–Pick disease type C with juvenile onset 17
Differential Greek and northern African migrations to Sicily are supported by genetic evidence from the Y chromosome 16
Dental anxiety in patients with borderline intellectual functioning and patients with intellectual disabilities 16
Genetic diversity within the R408W phenylketonuria mutation lineages in Europe 16
Continental and subcontinental distributions of mtDNA control region types 16
Carrier screening for spinal muscular atrophy in Italian population 16
GRIN2A: involvement in movement disorders and intellectual disability without seizures 15
Identification of human D lactate dehydrogenase deficiency 15
Autosomal recessive spino-cerebellar ataxia type 10 (SCAR10): clinical presentation associated with c.289delA ANO10 gene variant 15
DXYS156: a multi-purpose short tandem repeat locus for determination of sex, paternal and maternal geographic origins and DNA fingerprinting 14
Fibroblast Growth Factor Receptor 2 (FGFR2), a New Gene Involved in the Genesis of Autism Spectrum Disorder 14
Novel c.C2254T (p.Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis 14
GENETIC RELATIONSHIPS OF BRASSICA VEGETABLES AND WILD RELATIVES IN SOUTHERN ITALY DETERMINED BY FIVE SSR 14
New Insights Into TRMT10A Syndrome: Case Report and Literature Review 14
Aninteresting case of Piebaldism with café-au-lait macules and freckling: the use of targeted next-generation sequencing for molecular diagnosis 14
The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape 13
Potential Link Between a Disruptive CAPN6 Variant and Neurodevelopmental Disorders 13
Investigating the role of a novel hemizygous FAAH2 variant in neurological and metabolic disorders 13
Phylogeographic Analysis of Haplogroup E3b (E-M215) Y Chromosomes Reveals Multiple Migratory Events Within and Out Of Africa 12
The STR252 - IVS10nt546 - VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples 11
A De Novo USP24 Variant as a Candidate Driver in a Neurodevelopmental Disorder: Insights from Trio-Based Whole-Exome Sequencing 11
Dramatic brain aminergic deficit in a genetic mouse model of phenylketonuria 11
Population Structure in the Mediterranean Basin: A Y Chromosome Perspective 11
Towards a genetic history of Sicily 11
Genetic Heterogeneity in Five Italian Regions: Analysis of PAH Mutations and Minihaplotypes 11
Mutations and polymorphisms of the PAH gene in Sicily: comparison with other DNA polymorphisms 10
mtDNA analysis of the human remains buried in the sarcophagus of Federico II 10
The phenylketonuria mouse model: a meeting review 10
Molecular basis of mild hyperphenylalaninaemia in Turkey 10
PAH Gene Mutations in the Sicilian Population: Association with Minihaplotypes and Expression Analysis 9
SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Down’s syndrome subjects with undescended testes 9
MtDNA control region and RFLP data for Sicily and France 9
Preliminary studies on the molecular basis of hyperphenylalaninemia in Egypt 9
PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population 9
Virtual Reality Versus Monitor-Based Distraction in Children with Mild Intellectual Disability: A Preliminary Comparative Observational Study 8
Maternal phenylketonuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P407L) 8
Two novel PAH gene mutations detected in Italian phenylketonuric patients 8
Skewed X‐inactivation in a family with mental retardation and PQBP1 gene mutation 8
Totale 2.899
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Categoria #
all - tutte 10.526
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 10.526
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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
2025/20262.824 29 218 932 295 92 166 85 278 272 205 162 90
Totale 2.925