IRIS
CALI', FRANCESCO
 Distribuzione geografica
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Continente #
NA - Nord America 906
AS - Asia 39
EU - Europa 23
SA - Sud America 21
AF - Africa 1
Totale 990
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Nazione #
US - Stati Uniti d'America 904
SG - Singapore 17
BR - Brasile 14
VN - Vietnam 12
DE - Germania 6
HK - Hong Kong 5
IT - Italia 5
AR - Argentina 4
FR - Francia 3
RU - Federazione Russa 3
CA - Canada 2
CN - Cina 2
FI - Finlandia 2
GB - Regno Unito 2
AO - Angola 1
AT - Austria 1
EC - Ecuador 1
ID - Indonesia 1
IQ - Iraq 1
KZ - Kazakistan 1
PE - Perù 1
PL - Polonia 1
PY - Paraguay 1
Totale 990
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Città #
Dallas 898
Ho Chi Minh City 5
Hong Kong 5
Frankfurt am Main 4
Singapore 4
Hanoi 3
Catania 2
Dongguan 2
Helsinki 2
São Paulo 2
Almirante Brown 1
Amparo 1
Baghdad 1
Balakovo 1
Bexley 1
Campinas 1
Curitiba 1
Encarnación 1
Ezeiza 1
Goiânia 1
Haiphong 1
Huế 1
Kubinka 1
Laferrere 1
Lanús 1
London 1
Los Angeles 1
Luanda 1
Lấp Vò 1
Marilândia 1
Mesquita 1
Montreal 1
New Haven 1
New York 1
Oral 1
Osvaldo Cruz 1
Porto Alegre 1
Quito 1
Roubaix 1
Sant'Antimo 1
Sorocaba 1
São Bernardo do Campo 1
São Vicente 1
Thái Bình 1
Wroclaw 1
Yekaterinburg 1
Águas Formosas 1
Totale 964
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Nome #
1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features 130
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 57
A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy 43
Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics 40
Archaeogenetics and Landscape Dynamics in Sicily during the Holocene: A Review 32
Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy 31
Potential Role of ABCF2 Gene in Pudendal Nerve Neuropathy and Interstitial Cystitis 30
Clinical Application of a Customized Gene Panel for Identifying Autism Spectrum Disorder-Associated Variants 30
Bioinformatic Evaluation of KLF13 Genetic Variant: Implications for Neurodevelopmental and Psychiatric Symptoms 29
PHF21A Related Disorder: Description of a New Case 29
Role of COMT V158M Polymorphism in the Development of Dystonia after Administration of Antipsychotic Drugs 28
Genetic screening of tuberous sclerosis complex in Sicily with a focus on neurological manifestations 28
UNC5C: Novel Gene Associated with Psychiatric Disorders Impacts Dysregulation of Axon Guidance Pathways 28
Strengthening the Role of PSMC5 as a Potential Gene Associated with Neurodevelopmental Disorders 27
KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review 27
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 25
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 25
Exploring the Role of FICD, a New Potential Gene Involved in Borderline Intellectual Functioning, Psychological and Metabolic Disorders 24
Potential Association of the CSMD1 Gene with Moderate Intellectual Disability, Anxiety Disorder, and Obsessive–Compulsive Personality Traits 23
ZNF496 as Candidate Gene for Neurodevelopmental Disorders: Identification of a Pathogenic De Novo Frameshift Variant 23
Novel SPINK5 variants in a patient with Netherton syndrome and intellectual disability. The diagnostic value of trichoscopy 23
An odd precocious case of progressive osseous heteroplasia 21
Implications of a De Novo Variant in the SOX12 Gene in a Patient with Generalized Epilepsy, Intellectual Disability, and Childhood Emotional Behavioral Disorders 20
Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies 20
Are Mutations in the DHRS9 Gene Causally Linked to Epilepsy? A Case Report 20
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” 20
STXBP6 Gene Mutation: A New Form of SNAREopathy Leads to Developmental Epileptic Encephalopathy 19
Genetic Screening of Tuberous Sclerosis Complex in Sicily with a Focus on Neurological Manifestations 19
TBC1D24 gene mRNA expression in a boy with early infantile epileptic encephalopathy-16 17
Functional Annotation of Genes Overlapping Copy Number Variants in Autistic Patients: Focus on Axon Pathfinding 5
Association between haplotypes, Hind III‐VNTR alleles and mutations at the PAH locus in Sicily 5
Mutations and polymorphisms of the PAH gene in Sicily: comparison with other DNA polymorphisms 4
Differential Greek and northern African migrations to Sicily are supported by genetic evidence from the Y chromosome 4
Moors and Saracens in Europe: estimating the medieval North African male legacy in southern Europe 4
Investigating the role of a novel hemizygous FAAH2 variant in neurological and metabolic disorders 4
Novel compound heterozygous mutation in NPC1 gene cause Niemann–Pick disease type C with juvenile onset 4
Dental anxiety in patients with borderline intellectual functioning and patients with intellectual disabilities 3
The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape 3
The Greeks in the West: genetic signatures of the Hellenic colonisation in southern Italy and Sicily 3
Ancient human genomes suggest three ancestral populations for present-day Europeans 3
Fibroblast Growth Factor Receptor 2 (FGFR2), a New Gene Involved in the Genesis of Autism Spectrum Disorder 3
Tracing European Founder Lineages in the Near Eastern mtDNA Pool 3
The phenylketonuria mouse model: a meeting review 3
Dramatic brain aminergic deficit in a genetic mouse model of phenylketonuria 3
Assessing the Impact of Copy Number Variants on miRNA Genes in Autism by Monte Carlo Simulation 3
Autosomal Microsatellite and mtDNA Genetic Analysis in Sicily (Italy) 3
Population Structure in the Mediterranean Basin: A Y Chromosome Perspective 3
Molecular basis of mild hyperphenylalaninaemia in Turkey 3
Identification of human D lactate dehydrogenase deficiency 3
GENETIC RELATIONSHIPS OF BRASSICA VEGETABLES AND WILD RELATIVES IN SOUTHERN ITALY DETERMINED BY FIVE SSR 3
Carrier screening for spinal muscular atrophy in Italian population 3
Towards a genetic history of Sicily 3
Genetic Heterogeneity in Five Italian Regions: Analysis of PAH Mutations and Minihaplotypes 3
PPP2R5E: New gene potentially involved in specific learning disorders and myopathy 2
PAH Gene Mutations in the Sicilian Population: Association with Minihaplotypes and Expression Analysis 2
Phylogeographic Analysis of Haplogroup E3b (E-M215) Y Chromosomes Reveals Multiple Migratory Events Within and Out Of Africa 2
SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Sicilian patients with melanoma 2
Cell line DNA typing in forensic genetics—the necessity of reliable standards 2
A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype 2
A methodological strategy for PAH genotyping in populations with a marked molecular heterogeneity of hyperphenylalaninemia 2
SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Down’s syndrome subjects with undescended testes 2
MAN2A2-related glycosylation defects in autism and cognitive delay 2
MtDNA control region and RFLP data for Sicily and France 2
Novel c.C2254T (p.Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis 2
A Customized Next-Generation Sequencing-Based Panel to Identify Novel Genetic Variants in Dementing Disorders: A Pilot Study 2
Aninteresting case of Piebaldism with café-au-lait macules and freckling: the use of targeted next-generation sequencing for molecular diagnosis 2
PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population 2
DXYS156: a multi-purpose short tandem repeat locus for determination of sex, paternal and maternal geographic origins and DNA fingerprinting 1
Maternal phenylketonuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P407L) 1
The STR252 - IVS10nt546 - VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples 1
mtDNA analysis of the human remains buried in the sarcophagus of Federico II 1
Two novel PAH gene mutations detected in Italian phenylketonuric patients 1
Genetic diversity within the R408W phenylketonuria mutation lineages in Europe 1
GRIN2A: involvement in movement disorders and intellectual disability without seizures 1
Continental and subcontinental distributions of mtDNA control region types 1
New Insights Into TRMT10A Syndrome: Case Report and Literature Review 1
Autosomal recessive spino-cerebellar ataxia type 10 (SCAR10): clinical presentation associated with c.289delA ANO10 gene variant 1
Preliminary studies on the molecular basis of hyperphenylalaninemia in Egypt 1
Skewed X‐inactivation in a family with mental retardation and PQBP1 gene mutation 1
Totale 1.072
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Categoria #
all - tutte 2.506
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 2.506
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2024/202517 0 0 0 0 0 0 0 0 0 2 7 8
2025/20261.055 9 135 867 44 0 0 0 0 0 0 0 0
Totale 1.072