IRIS
FICHERA, Marco
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 4.134
EU - Europa 1.972
AS - Asia 1.609
SA - Sud America 244
AF - Africa 131
OC - Oceania 2
Totale 8.092
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 3.978
SG - Singapore 807
IT - Italia 737
CN - Cina 645
UA - Ucraina 435
IE - Irlanda 411
BR - Brasile 223
CA - Canada 143
RU - Federazione Russa 105
CI - Costa d'Avorio 98
DE - Germania 63
SE - Svezia 51
GB - Regno Unito 46
KR - Corea 36
VN - Vietnam 36
FR - Francia 30
IN - India 28
FI - Finlandia 24
PL - Polonia 15
AT - Austria 13
NG - Nigeria 10
NL - Olanda 10
AR - Argentina 9
SN - Senegal 9
CH - Svizzera 8
JP - Giappone 8
MX - Messico 8
GR - Grecia 7
UZ - Uzbekistan 7
BD - Bangladesh 6
TR - Turchia 6
HK - Hong Kong 5
MA - Marocco 4
AE - Emirati Arabi Uniti 3
EG - Egitto 3
ES - Italia 3
LB - Libano 3
PY - Paraguay 3
VE - Venezuela 3
ZA - Sudafrica 3
AL - Albania 2
AM - Armenia 2
BB - Barbados 2
BG - Bulgaria 2
CO - Colombia 2
DK - Danimarca 2
EC - Ecuador 2
IL - Israele 2
JO - Giordania 2
MO - Macao, regione amministrativa speciale della Cina 2
OM - Oman 2
PK - Pakistan 2
SA - Arabia Saudita 2
TN - Tunisia 2
AU - Australia 1
AZ - Azerbaigian 1
BE - Belgio 1
BF - Burkina Faso 1
CL - Cile 1
CZ - Repubblica Ceca 1
HR - Croazia 1
IQ - Iraq 1
JM - Giamaica 1
KZ - Kazakistan 1
LT - Lituania 1
MD - Moldavia 1
ML - Mali 1
NI - Nicaragua 1
NP - Nepal 1
RS - Serbia 1
SK - Slovacchia (Repubblica Slovacca) 1
SM - San Marino 1
SV - El Salvador 1
TV - Tuvalu 1
TW - Taiwan 1
UY - Uruguay 1
Totale 8.092
Salva come PNG Salva come JPEG
Città #
Santa Clara 607
Chandler 513
Singapore 501
Jacksonville 479
Dublin 410
Houston 281
Boardman 199
Dallas 191
Chicago 151
Catania 147
Ashburn 125
Hefei 124
Lawrence 112
Andover 111
Nanjing 111
Cambridge 109
Toronto 101
Abidjan 98
Beijing 91
Civitanova Marche 83
Des Moines 63
Los Angeles 59
San Mateo 58
Nanchang 51
Palermo 45
Hebei 41
Wilmington 41
Seoul 35
Saint Petersburg 33
Vercelli 31
Bremen 29
Tianjin 29
Falls Church 28
Ottawa 28
Shenyang 27
Rome 25
Dong Ket 24
Milan 24
The Dalles 22
Columbus 20
Changsha 19
Messina 19
Seattle 19
Norwalk 17
Council Bluffs 16
Jiaxing 15
Dearborn 13
Jinan 11
Abuja 10
Kochi 10
Lappeenranta 10
Pune 10
San Francisco 10
São Paulo 10
Augusta 9
Civitavecchia 9
Dakar 9
Helsinki 9
London 9
Napoli 9
Ann Arbor 8
Belo Horizonte 8
Munich 8
Rio de Janeiro 8
Stockholm 8
Kunming 7
New York 7
Ningbo 7
Shanghai 7
Brooklyn 6
Ho Chi Minh City 6
Tappahannock 6
Tokyo 6
Warsaw 6
Washington 6
Alcamo 5
Boston 5
Brasília 5
Frankfurt Am Main 5
Guangzhou 5
Livorno 5
Porto Alegre 5
Turku 5
Amsterdam 4
Camberwell 4
Campinas 4
Charlotte 4
Den Haag 4
Fairfield 4
Fortaleza 4
Genoa 4
Hanoi 4
Jundiaí 4
Liberty Lake 4
Mexico City 4
Montreal 4
Moscow 4
Phoenix 4
Pontedera 4
Redwood City 4
Totale 5.712
Salva come PNG Salva come JPEG
Nome #
New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome. 178
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants 157
ANOMALIE CRANIO -FACCIALI, SINDATTILIA E RITARDO MENTALE MEDIO IN UNA PAZIENTE CON TRASLOCAZIONE DE NOVO APPARENTEMENTE BILANCIATA T(8;14)(Q13;Q13) 144
Intragenic ILRAPL1 deletion in a male patient with intellectual disability, mild dysmorphic signs, deafness, and behavioral problems 138
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 127
Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting 123
Mutational Analysis of BRCA1 and BRCA2 Genes in Breast Cancer Patients from Eastern Sicily 112
Antitumoural activity of a cytotoxic peptide of Lactobacillus casei peptidoglycan and its interaction with mitochondrial-bound hexokinase 111
1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features 110
Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder 105
Analisi globale dell'espressione genica e patogenesi molecolare del ritardo mentale 104
6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: A report of five cases 101
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism 96
12q12 deletion: A new patient contributing to genotype-phenotype correlation 94
6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies. 93
Valutazione del tasso di mutazioni spontanee nel DNA di pazienti oligoastenoteratozoospermici con frequenza elevata di aneuploidie spermatiche 93
Trait - driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes 88
Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders. 88
Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome 88
PARK2 microdeletion in a multiplex family with autism spectrum disorder 85
A new MRXS locus maps to the X chromosome pericentromeric region: a new syndrome or narrow definition of Sutherland-Haan genetic locus? 85
A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia 84
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. 84
Severe encephalomyopathy in a patient with homoplasmic A5814G point mutation in mitochondrial tRNA(Cys) gene 83
Apneic crises: A clue for MECP2 testing in severe neonatal hypotonia-respiratory failure 83
Discriminatory Weight of SNPs in Spike SARS-CoV-2 Variants: A Technically Rapid, Unambiguous, and Bioinformatically Validated Laboratory Approach 83
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID 82
Copy Number Variations in Children with Tourette Syndrome: Systematic Investigation in a Clinical Setting 81
Narrowing the candidate region for congenital diaphragmatic hernia in chromosome 15q26: Contradictory results 78
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy 78
A de novo 8q22.2-24.3 duplication in a patient with mild phenotype 78
A novel L1CAM mutation in a fetus detected by prenatal diagnosis 76
Aploinsufficenza del gene CELF4 in paziente con microdelezione 18q12.2 e Disturbo dello spettro Autistico 76
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures 76
Nail aplasia, microcephaly, severe mental retardation and MRI abnormalities: report of two unrelated cases 75
Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder 75
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay 75
Recurrent duplications of 17q12 associated with variable phenotypes 74
Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response 74
Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome 73
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity 73
Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions 72
An unusual presentation of Becker Nevus 72
MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability. 71
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes 71
Familial 1.1 Mb deletion in chromosome Xq22.1 associated with mental retardation and behavioural disorders in female patients 70
Quantitative evaluation of partial deletions of the DAZ gene cluster 69
The molecular landscape of ASPM mutations in primary microcephaly 69
Schizophrenia in a patient with subtelomeric duplication of chromosome 22q 68
Coexistence of A3243G mt-DNA and nt697 doublecortin (DCX) mutations in a female with mitochondrial Encephalomyopathy and double cortex 68
DIAGNOSI PRENATALE DI CUORE SINISTRO IPOPLASICO E DELEZIONE 11q24.3-q25 ASSOCIATA A SINDROME DI JACOBSEN 68
Case Report: Infantile autism in a patient carrying a 275 Kb deletion of 18q12.2 supports the role of RNA-binding protein CELF4 in Autism Spectrum Disorders 68
Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients 66
CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy 65
Brief Report: Peculiar Evolution of Autistic Behaviors in Two Unrelated Children with Brachidactyly-Mental Retardation Syndrome 64
Coexistence of mitochondrial and nuclear DNA mutations in a woman with mitochondrial encephalomyopathy and double cortex 64
TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion 64
Partial monosomy Xq(Xq23 -> qter) and trisomy 4p(4p15.33 -> pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features 63
GENE EXPRESSION PROFILE IN THE X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 63
Prenatal diagnosis of ATR-X syndrome in a fetus with a new G > T splicing mutation in the XNP/ATR-X gene 63
Cryptic deletions are a common finding in "balanced'' reciprocal and complex chromosome rearrangements: A study of 59 patients 63
Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome 63
Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes 62
Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletion 61
Identification of novel mutations in patients with Coffin-Lowry syndrome by a denaturing HPLC-based assay 61
Sox11 Is Required to Maintain Proper Levels of Hedgehog Signaling during Vertebrate Ocular Morphogenesis 61
Disturbo dello spettro autistico associato ad aploinsufficenza della proteina CELF4 (delezione familiare18q12.2) 61
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome 60
GENE EXPRESSION PROFILE IN THE X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 60
Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation 59
Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes 59
Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome 59
Denaturing HPLC-Based assay for molecular screening of nondeletional mutations causing alpha-thalassemias 58
Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis 58
Multicentric origin of Hb constant spring [alpha(2) codon 142 TAA -> CAA] 57
Mutational analysis of the ATRX gene by DGGE: A powerful diagnostic approach for the ATRX syndrome 57
Genetic variations in human fetal globin gene microsatellites and their functional relevance 57
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome 57
EXPRESSION PROFILING IN A SEVERE FORM OF X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 57
Balanced complex rearrangements: how many are really balanced? 55
Deletion 2p25.2: A cryptic chromosome abnormality in a patient with autism and mental retardation detected using aCGH 55
Hematologic and molecular characterization of a Sicilian cohort of alpha thalassernia carriers 54
Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations 53
Acute neurological regression following fever as presenting sign of pontocerebellar hypoplasia type 2D (SEPSECS mutation) 52
Bilateral periventricular nodular heterotopia and lissencephaly in an infant with unbalanced t(12;17)(q24.31; p13.3) translocation 52
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype 52
Molecular basis of alpha-thalassemia in Sicily 51
Denaturing HPLC-based assay for detection of ATRX gene mutations 51
The embryo battle against adverse genomes: Are de novo terminal deletions the rescue of unfavorable zygotic imbalances? 50
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes 50
How microsatellite analysis can be exploited for subtelomeric chromosomal rearrangement analysis in mental retardation 50
Different geographic origins of Hb constant spring [alpha(2) codon 142 TAA -> CAA] 49
Identification of novel mutations in L1CAM gene by a DHPLC-based assay 49
RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome 48
Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development 48
High occurrence of Brachydactyly-Mental Retardation syndrome among mentally retarded subjects in Italy 48
Three new patients with dup(17)(p11.2p11.2) without autism 47
DNA mutation rate in oligoasthenoteratozoospermic patients with elevated sperm aneuploidy frequency and normal karyotype 47
Molecular and clinical characterization of a small duplication Xp in a human female with psychiatric disorders 46
EXPRESSION PROFILING IN A SEVERE FORM OF X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 46
Totale 7.342
Salva come PNG Salva come JPEG
Categoria #
all - tutte 30.286
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 30.286
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021653 0 0 99 5 173 16 118 17 62 5 106 52
2021/2022941 102 115 10 14 129 16 124 26 87 20 29 269
2022/20231.537 137 52 22 172 151 263 7 245 370 29 60 29
2023/2024612 38 64 49 41 22 131 24 61 6 18 104 54
2024/20252.341 102 343 143 123 588 207 37 104 155 191 176 172
2025/2026737 337 384 16 0 0 0 0 0 0 0 0 0
Totale 8.258