IRIS
FICHERA, Marco
 Distribuzione geografica
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Continente #
NA - Nord America 5.671
EU - Europa 3.021
AS - Asia 2.806
SA - Sud America 434
AF - Africa 364
OC - Oceania 4
Totale 12.300
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Nazione #
US - Stati Uniti d'America 5.465
SG - Singapore 1.445
IT - Italia 881
CN - Cina 840
RU - Federazione Russa 768
UA - Ucraina 439
IE - Irlanda 415
BR - Brasile 352
CI - Costa d'Avorio 215
VN - Vietnam 184
CA - Canada 160
FR - Francia 150
KR - Corea 77
DE - Germania 75
NG - Nigeria 72
GB - Regno Unito 68
SE - Svezia 61
IN - India 55
FI - Finlandia 36
AR - Argentina 30
HK - Hong Kong 26
MX - Messico 26
BD - Bangladesh 25
PL - Polonia 24
IQ - Iraq 23
AT - Austria 21
TR - Turchia 19
NL - Olanda 17
ZA - Sudafrica 17
JP - Giappone 15
ES - Italia 14
SA - Arabia Saudita 13
PK - Pakistan 12
VE - Venezuela 12
EC - Ecuador 11
UZ - Uzbekistan 11
ID - Indonesia 10
CH - Svizzera 9
EG - Egitto 9
MA - Marocco 9
SN - Senegal 9
UY - Uruguay 9
CO - Colombia 8
GR - Grecia 8
AE - Emirati Arabi Uniti 7
BJ - Benin 7
TN - Tunisia 7
JO - Giordania 6
KE - Kenya 6
DZ - Algeria 5
NP - Nepal 5
PT - Portogallo 5
AL - Albania 4
IL - Israele 4
MY - Malesia 4
PE - Perù 4
PH - Filippine 4
RO - Romania 4
AZ - Azerbaigian 3
BE - Belgio 3
CR - Costa Rica 3
JM - Giamaica 3
KZ - Kazakistan 3
LB - Libano 3
OM - Oman 3
PY - Paraguay 3
RS - Serbia 3
SV - El Salvador 3
AM - Armenia 2
AU - Australia 2
BB - Barbados 2
BF - Burkina Faso 2
BG - Bulgaria 2
BO - Bolivia 2
CL - Cile 2
CZ - Repubblica Ceca 2
DK - Danimarca 2
DO - Repubblica Dominicana 2
ET - Etiopia 2
GT - Guatemala 2
LT - Lituania 2
MO - Macao, regione amministrativa speciale della Cina 2
AD - Andorra 1
AO - Angola 1
BS - Bahamas 1
BY - Bielorussia 1
GD - Grenada 1
GE - Georgia 1
HN - Honduras 1
HR - Croazia 1
IR - Iran 1
KG - Kirghizistan 1
KW - Kuwait 1
LY - Libia 1
MD - Moldavia 1
ML - Mali 1
MT - Malta 1
NI - Nicaragua 1
NZ - Nuova Zelanda 1
SC - Seychelles 1
Totale 12.293
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Città #
Dallas 872
Singapore 850
Santa Clara 619
Chandler 513
Jacksonville 480
Dublin 413
San Jose 323
Moscow 295
Houston 284
Ashburn 258
Abidjan 215
Boardman 199
Catania 174
Chicago 154
Beijing 136
Hefei 132
Lawrence 112
Andover 111
Nanjing 111
Cambridge 109
Lauterbourg 109
Los Angeles 106
Toronto 105
Civitanova Marche 83
Seoul 75
Des Moines 63
San Mateo 58
Palermo 57
Ho Chi Minh City 51
Nanchang 51
Council Bluffs 46
Hanoi 43
Abuja 42
Hebei 41
Wilmington 41
New York 40
Saint Petersburg 33
Rome 31
Vercelli 31
Tianjin 30
Bremen 29
Falls Church 28
Ottawa 28
São Paulo 28
Milan 27
Shenyang 27
Messina 26
Dong Ket 24
Lagos 24
The Dalles 22
Columbus 21
Hong Kong 21
Seattle 21
Buffalo 20
Changsha 19
Lappeenranta 19
Stockholm 18
Norwalk 17
Rio de Janeiro 17
Montreal 16
Denver 15
Jiaxing 15
Atlanta 14
Warsaw 14
Dearborn 13
Naples 13
Brooklyn 12
Helsinki 12
Orem 12
Tokyo 12
Augusta 11
Belo Horizonte 11
Jinan 11
Johannesburg 11
Baghdad 10
Boston 10
Kochi 10
London 10
Mexico City 10
Pune 10
San Francisco 10
Amsterdam 9
Chennai 9
Civitavecchia 9
Dakar 9
Napoli 9
Phoenix 9
Ann Arbor 8
Da Nang 8
Haiphong 8
Munich 8
Shanghai 8
Cotonou 7
Dhaka 7
Kunming 7
Montevideo 7
Ningbo 7
Amman 6
Brasília 6
Charlotte 6
Totale 8.341
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Nome #
New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome. 201
ANOMALIE CRANIO -FACCIALI, SINDATTILIA E RITARDO MENTALE MEDIO IN UNA PAZIENTE CON TRASLOCAZIONE DE NOVO APPARENTEMENTE BILANCIATA T(8;14)(Q13;Q13) 189
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants 184
Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting 180
Analisi globale dell'espressione genica e patogenesi molecolare del ritardo mentale 172
1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features 165
Intragenic ILRAPL1 deletion in a male patient with intellectual disability, mild dysmorphic signs, deafness, and behavioral problems 164
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 161
Mutational Analysis of BRCA1 and BRCA2 Genes in Breast Cancer Patients from Eastern Sicily 161
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism 159
Copy Number Variations in Children with Tourette Syndrome: Systematic Investigation in a Clinical Setting 157
Antitumoural activity of a cytotoxic peptide of Lactobacillus casei peptidoglycan and its interaction with mitochondrial-bound hexokinase 155
6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: A report of five cases 155
6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies. 148
12q12 deletion: A new patient contributing to genotype-phenotype correlation 144
Acute neurological regression following fever as presenting sign of pontocerebellar hypoplasia type 2D (SEPSECS mutation) 141
PARK2 microdeletion in a multiplex family with autism spectrum disorder 141
A new MRXS locus maps to the X chromosome pericentromeric region: a new syndrome or narrow definition of Sutherland-Haan genetic locus? 141
Discriminatory Weight of SNPs in Spike SARS-CoV-2 Variants: A Technically Rapid, Unambiguous, and Bioinformatically Validated Laboratory Approach 141
Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder 139
Trait - driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes 138
A de novo 8q22.2-24.3 duplication in a patient with mild phenotype 138
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy 135
A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia 126
PPP5C pathogenic variant identified: a potential key to gaining insight into developmental and epileptic encephalopathy? 124
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures 123
Apneic crises: A clue for MECP2 testing in severe neonatal hypotonia-respiratory failure 122
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. 122
Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome 121
Valutazione del tasso di mutazioni spontanee nel DNA di pazienti oligoastenoteratozoospermici con frequenza elevata di aneuploidie spermatiche 118
Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders. 117
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay 116
Aploinsufficenza del gene CELF4 in paziente con microdelezione 18q12.2 e Disturbo dello spettro Autistico 116
A novel L1CAM mutation in a fetus detected by prenatal diagnosis 114
Severe encephalomyopathy in a patient with homoplasmic A5814G point mutation in mitochondrial tRNA(Cys) gene 113
Narrowing the candidate region for congenital diaphragmatic hernia in chromosome 15q26: Contradictory results 112
Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome 112
Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response 109
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID 108
Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder 105
An unusual presentation of Becker Nevus 103
Recurrent duplications of 17q12 associated with variable phenotypes 101
Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions 99
The Italian XLMR bank: A clinical and molecular database 98
Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletion 97
MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability 97
Unveiling Secondary Mutations in Blended Phenotypes: Dual ERCC4 and OTOA Pathogenic Variants Through WES Analysis 96
Quantitative evaluation of partial deletions of the DAZ gene cluster 96
Nail aplasia, microcephaly, severe mental retardation and MRI abnormalities: report of two unrelated cases 96
Cryptic deletions are a common finding in "balanced'' reciprocal and complex chromosome rearrangements: A study of 59 patients 96
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes 96
Schizophrenia in a patient with subtelomeric duplication of chromosome 22q 94
The molecular landscape of ASPM mutations in primary microcephaly 93
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity 93
Familial 1.1 Mb deletion in chromosome Xq22.1 associated with mental retardation and behavioural disorders in female patients 92
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants 91
Coexistence of A3243G mt-DNA and nt697 doublecortin (DCX) mutations in a female with mitochondrial Encephalomyopathy and double cortex 91
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 91
Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients 91
Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes 91
Coexistence of mitochondrial and nuclear DNA mutations in a woman with mitochondrial encephalomyopathy and double cortex 90
Partial monosomy Xq(Xq23 -> qter) and trisomy 4p(4p15.33 -> pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features 90
GENE EXPRESSION PROFILE IN THE X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 90
Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome 90
Disturbo dello spettro autistico associato ad aploinsufficenza della proteina CELF4 (delezione familiare18q12.2) 88
GENE EXPRESSION PROFILE IN THE X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 88
CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy 87
Brief Report: Peculiar Evolution of Autistic Behaviors in Two Unrelated Children with Brachidactyly-Mental Retardation Syndrome 87
Mutational analysis of the ATRX gene by DGGE: A powerful diagnostic approach for the ATRX syndrome 86
Sox11 Is Required to Maintain Proper Levels of Hedgehog Signaling during Vertebrate Ocular Morphogenesis 86
DIAGNOSI PRENATALE DI CUORE SINISTRO IPOPLASICO E DELEZIONE 11q24.3-q25 ASSOCIATA A SINDROME DI JACOBSEN 86
Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis 86
Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation 85
EXPRESSION PROFILING IN A SEVERE FORM OF X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 85
Prenatal diagnosis of ATR-X syndrome in a fetus with a new G > T splicing mutation in the XNP/ATR-X gene 85
Pilomatricomas in a patient with Rubinstein-Taybi syndrome: diagnostic and therapeutic clues 84
TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion 84
Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome 84
Multicentric origin of Hb constant spring [alpha(2) codon 142 TAA -> CAA] 83
Identification of novel mutations in patients with Coffin-Lowry syndrome by a denaturing HPLC-based assay 82
Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes 82
The embryo battle against adverse genomes: Are de novo terminal deletions the rescue of unfavorable zygotic imbalances? 81
Denaturing HPLC-Based assay for molecular screening of nondeletional mutations causing alpha-thalassemias 81
Hematologic and molecular characterization of a Sicilian cohort of alpha thalassernia carriers 81
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome 81
Genetic variations in human fetal globin gene microsatellites and their functional relevance 80
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome 80
Deletion 2p25.2: A cryptic chromosome abnormality in a patient with autism and mental retardation detected using aCGH 80
Molecular basis of alpha-thalassemia in Sicily 78
The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes. 78
Balanced complex rearrangements: how many are really balanced? 77
High occurrence of Brachydactyly-Mental Retardation syndrome among mentally retarded subjects in Italy 77
Bilateral periventricular nodular heterotopia and lissencephaly in an infant with unbalanced t(12;17)(q24.31; p13.3) translocation 75
Different geographic origins of Hb constant spring [alpha(2) codon 142 TAA -> CAA] 75
Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndrome 75
SPECIFIC CHANGES IN GENE EXPRESSION IN THE X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME 74
Three new patients with dup(17)(p11.2p11.2) without autism 72
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes 71
Clinical Significance of Rare Copy Number Variations in Epilepsy A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization 71
Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations 71
Totale 10.755
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Categoria #
all - tutte 38.906
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 38.906
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021163 0 0 0 0 0 0 0 0 0 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
2025/20264.952 337 384 907 290 712 876 582 196 318 350 0 0
Totale 12.473