IRIS
CALI', FRANCESCO
 Distribuzione geografica
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Continente #
NA - Nord America 1.442
AS - Asia 695
SA - Sud America 236
EU - Europa 165
AF - Africa 16
Totale 2.554
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Nazione #
US - Stati Uniti d'America 1.423
SG - Singapore 261
CN - Cina 196
BR - Brasile 179
VN - Vietnam 111
HK - Hong Kong 44
IT - Italia 40
FR - Francia 32
DE - Germania 27
AR - Argentina 21
IE - Irlanda 15
PL - Polonia 14
BD - Bangladesh 11
IN - India 11
IQ - Iraq 11
MX - Messico 10
CL - Cile 8
EC - Ecuador 8
GB - Regno Unito 8
ID - Indonesia 8
TR - Turchia 8
RU - Federazione Russa 7
AZ - Azerbaigian 5
CA - Canada 5
NL - Olanda 5
PK - Pakistan 5
PY - Paraguay 5
CO - Colombia 4
PH - Filippine 4
VE - Venezuela 4
ZA - Sudafrica 4
AE - Emirati Arabi Uniti 3
AT - Austria 3
CR - Costa Rica 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 2.554
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Città #
Dallas 985
San Jose 106
Singapore 85
Ashburn 84
Ho Chi Minh City 45
Hong Kong 43
Beijing 40
Chicago 23
Hillsboro 23
Hanoi 20
Dublin 15
São Paulo 13
Warsaw 13
Frankfurt am Main 12
Orem 9
Santa Clara 9
Haiphong 7
Milan 6
Baghdad 5
Curitiba 5
Istanbul 5
Brasília 4
Cachoeirinha 4
Concepción 4
Council Bluffs 4
Fortaleza 4
Hải Dương 4
Limburg an der Lahn 4
Lấp Vò 4
Rio de Janeiro 4
São Bernardo do Campo 4
Zhengzhou 4
Amman 3
Biên Hòa 3
Boardman 3
Da Nang 3
Goiânia 3
Guarulhos 3
Helsinki 3
Joinville 3
Los Angeles 3
Marília 3
Messina 3
Mexico City 3
Modena 3
Montreal 3
New York 3
Porto Alegre 3
Reston 3
Thái Bình 3
Assago 2
Baku 2
Bắc Giang 2
Bắc Ninh 2
Can Tho 2
Canoas 2
Capão da Canoa 2
Caruaru 2
Casablanca 2
Catania 2
Chennai 2
Dhaka 2
Dongguan 2
Duhok 2
Erbil 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
Rome 2
San Bernardo 2
San José 2
Santo André 2
São Vicente 2
Tashkent 2
West Jordan 2
Acaraú 1
Agadir 1
Ahmedabad 1
Aksay 1
Akşehir 1
Alexandria 1
Almirante Brown 1
Altamira 1
Ambāla 1
Amparo 1
Amsterdam 1
Ananindeua 1
Totale 1.739
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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
A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy 63
Genetic Screening of Tuberous Sclerosis Complex in Sicily with a Focus on Neurological Manifestations 62
Genetic screening of tuberous sclerosis complex in Sicily with a focus on neurological manifestations 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 52
Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics 51
Archaeogenetics and Landscape Dynamics in Sicily during the Holocene: A Review 47
Next Generation Sequencing and Electromyography Reveal the Involvement of the P2RX6 Gene in Myopathy 47
PLEKHG1: New Potential Candidate Gene for Periventricular White Matter Abnormalities 46
Screening of subtelomeric rearrangements in autistic disorder: Identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation 46
Bioinformatic Evaluation of KLF13 Genetic Variant: Implications for Neurodevelopmental and Psychiatric Symptoms 44
Lack of association of {HOXA}1 and {HOXB}1 mutations and autism in Sicilian (Italian) patients 43
Are Mutations in the DHRS9 Gene Causally Linked to Epilepsy? A Case Report 43
Clinical Application of a Customized Gene Panel for Identifying Autism Spectrum Disorder-Associated Variants 43
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM (TM) platform 43
Implications of a De Novo Variant in the SOX12 Gene in a Patient with Generalized Epilepsy, Intellectual Disability, and Childhood Emotional Behavioral Disorders 42
Potential Role of ABCF2 Gene in Pudendal Nerve Neuropathy and Interstitial Cystitis 41
STXBP6 Gene Mutation: A New Form of SNAREopathy Leads to Developmental Epileptic Encephalopathy 41
Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies 41
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
Strengthening the Role of PSMC5 as a Potential Gene Associated with Neurodevelopmental Disorders 39
KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review 39
Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy 38
Suggestive evidence for association of D2S2188 marker (2q31.1) with autism in 143 Sicilian (Italian) TRIO families 37
ZNF496 as Candidate Gene for Neurodevelopmental Disorders: Identification of a Pathogenic De Novo Frameshift Variant 36
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
A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype 35
Role of COMT V158M Polymorphism in the Development of Dystonia after Administration of Antipsychotic Drugs 35
Exploring the Role of FICD, a New Potential Gene Involved in Borderline Intellectual Functioning, Psychological and Metabolic Disorders 34
Specific Learning Disorders: Variation Analysis of 15 Candidate Genes in 9 Multiplex Families 33
UNC5C: Novel Gene Associated with Psychiatric Disorders Impacts Dysregulation of Axon Guidance Pathways 33
Potential Association of the CSMD1 Gene with Moderate Intellectual Disability, Anxiety Disorder, and Obsessive–Compulsive Personality Traits 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
Functional Annotation of Genes Overlapping Copy Number Variants in Autistic Patients: Focus on Axon Pathfinding 26
Autosomal Microsatellite and mtDNA Genetic Analysis in Sicily (Italy) 25
MAN2A2-related glycosylation defects in autism and cognitive delay 22
Association between haplotypes, Hind III‐VNTR alleles and mutations at the PAH locus in Sicily 20
NGS Approaches in Clinical Diagnostics: From Workflow to Disease-Specific Applications 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
A Customized Next-Generation Sequencing-Based Panel to Identify Novel Genetic Variants in Dementing Disorders: A Pilot Study 20
Special Issue “Molecular Progression in Genome-Related Diseases” 19
Analysis of the gastrin-releasing peptide receptor gene in Italian patients with autism spectrum disorders 19
Dissecting the Genetic Contribution of Tooth Agenesis 19
Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene 18
Moors and Saracens in Europe: estimating the medieval North African male legacy in southern Europe 18
Mutational analysis of EFHC1 gene in italian families with juvenile myoclonic epilepsy 17
Ancient human genomes suggest three ancestral populations for present-day Europeans 17
Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome 16
The Greeks in the West: genetic signatures of the Hellenic colonisation in southern Italy and Sicily 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
Assessing the Impact of Copy Number Variants on miRNA Genes in Autism by Monte Carlo Simulation 15
Identification of human D lactate dehydrogenase deficiency 15
DXYS156: a multi-purpose short tandem repeat locus for determination of sex, paternal and maternal geographic origins and DNA fingerprinting 14
Unravelling the role of Neurotrimin (NTM), a member of the IgLON family, in mild intellectual disability and anxiety-like behaviors 14
Dental anxiety in patients with borderline intellectual functioning and patients with intellectual disabilities 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
Novel compound heterozygous mutation in NPC1 gene cause Niemann–Pick disease type C with juvenile onset 14
Autosomal recessive spino-cerebellar ataxia type 10 (SCAR10): clinical presentation associated with c.289delA ANO10 gene variant 14
Fibroblast Growth Factor Receptor 2 (FGFR2), a New Gene Involved in the Genesis of Autism Spectrum Disorder 13
Tracing European Founder Lineages in the Near Eastern mtDNA Pool 13
New Insights Into TRMT10A Syndrome: Case Report and Literature Review 13
Aninteresting case of Piebaldism with café-au-lait macules and freckling: the use of targeted next-generation sequencing for molecular diagnosis 13
PPP2R5E: New gene potentially involved in specific learning disorders and myopathy 12
Differential Greek and northern African migrations to Sicily are supported by genetic evidence from the Y chromosome 12
The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape 12
Potential Link Between a Disruptive CAPN6 Variant and Neurodevelopmental Disorders 12
Unravelling the role of Neurotrimin (NTM), a member of the IgLON family, in mild intellectual disability and anxiety-like behaviors 11
The STR252 - IVS10nt546 - VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples 11
Phylogeographic Analysis of Haplogroup E3b (E-M215) Y Chromosomes Reveals Multiple Migratory Events Within and Out Of Africa 11
Dramatic brain aminergic deficit in a genetic mouse model of phenylketonuria 11
Population Structure in the Mediterranean Basin: A Y Chromosome Perspective 11
Investigating the role of a novel hemizygous FAAH2 variant in neurological and metabolic disorders 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
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
Maternal phenylketonuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P407L) 8
mtDNA analysis of the human remains buried in the sarcophagus of Federico II 8
Skewed X‐inactivation in a family with mental retardation and PQBP1 gene mutation 8
Virtual Reality Versus Monitor-Based Distraction in Children with Mild Intellectual Disability: A Preliminary Comparative Observational Study 7
SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Sicilian patients with melanoma 7
Two novel PAH gene mutations detected in Italian phenylketonuric patients 7
Totale 2.657
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Categoria #
all - tutte 7.655
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 7.655
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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
2025/20262.556 29 218 932 295 92 166 85 278 272 189 0 0
Totale 2.657