IRIS
FICHERA, Marco
 Distribuzione geografica
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Continente #
NA - Nord America 3.797
EU - Europa 1.920
AS - Asia 1.333
SA - Sud America 182
AF - Africa 123
Totale 7.355
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Nazione #
US - Stati Uniti d'America 3.656
SG - Singapore 748
IT - Italia 712
CN - Cina 474
UA - Ucraina 434
IE - Irlanda 411
BR - Brasile 171
CA - Canada 137
RU - Federazione Russa 105
CI - Costa d'Avorio 98
DE - Germania 61
SE - Svezia 48
GB - Regno Unito 35
FR - Francia 30
VN - Vietnam 27
FI - Finlandia 24
IN - India 23
KR - Corea 17
AT - Austria 11
NG - Nigeria 10
NL - Olanda 10
PL - Polonia 10
CH - Svizzera 8
SN - Senegal 8
GR - Grecia 7
JP - Giappone 7
UZ - Uzbekistan 6
AR - Argentina 5
HK - Hong Kong 5
AE - Emirati Arabi Uniti 3
BD - Bangladesh 3
MA - Marocco 3
AL - Albania 2
AM - Armenia 2
BG - Bulgaria 2
DK - Danimarca 2
JO - Giordania 2
LB - Libano 2
MO - Macao, regione amministrativa speciale della Cina 2
MX - Messico 2
OM - Oman 2
PY - Paraguay 2
TR - Turchia 2
AZ - Azerbaigian 1
BB - Barbados 1
BE - Belgio 1
CO - Colombia 1
CZ - Repubblica Ceca 1
EC - Ecuador 1
EG - Egitto 1
ES - Italia 1
HR - Croazia 1
IL - Israele 1
IQ - Iraq 1
KZ - Kazakistan 1
MD - Moldavia 1
ML - Mali 1
NP - Nepal 1
PK - Pakistan 1
RS - Serbia 1
SA - Arabia Saudita 1
SK - Slovacchia (Repubblica Slovacca) 1
SM - San Marino 1
SV - El Salvador 1
TN - Tunisia 1
TW - Taiwan 1
UY - Uruguay 1
VE - Venezuela 1
ZA - Sudafrica 1
Totale 7.355
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Città #
Santa Clara 605
Chandler 513
Jacksonville 479
Singapore 459
Dublin 410
Houston 280
Boardman 199
Chicago 151
Catania 138
Lawrence 112
Andover 111
Nanjing 111
Cambridge 109
Toronto 101
Ashburn 100
Abidjan 98
Civitanova Marche 83
Des Moines 63
San Mateo 58
Nanchang 51
Hebei 41
Wilmington 41
Palermo 40
Hefei 34
Saint Petersburg 33
Vercelli 31
Bremen 29
Tianjin 29
Falls Church 28
Ottawa 28
Shenyang 27
Rome 25
Dong Ket 24
Los Angeles 24
Milan 23
The Dalles 22
Beijing 20
Changsha 19
Messina 18
Seattle 18
Norwalk 17
Seoul 17
Council Bluffs 16
Jiaxing 15
Dearborn 13
Jinan 11
Abuja 10
Kochi 10
Lappeenranta 10
Augusta 9
Civitavecchia 9
Helsinki 9
Napoli 9
Pune 9
San Francisco 9
Ann Arbor 8
Dakar 8
Munich 8
Belo Horizonte 7
Kunming 7
Ningbo 7
Shanghai 7
São Paulo 7
Tappahannock 6
Washington 6
Alcamo 5
Brasília 5
Frankfurt Am Main 5
Guangzhou 5
Livorno 5
Stockholm 5
Tokyo 5
Turku 5
Amsterdam 4
Camberwell 4
Campinas 4
Charlotte 4
Den Haag 4
Fairfield 4
Genoa 4
Liberty Lake 4
London 4
Moscow 4
New York 4
Pontedera 4
Redwood City 4
Rio de Janeiro 4
Trapani 4
Vicenza 4
Alessandria 3
Bauru 3
Belpasso 3
Brooklyn 3
Campo Belo 3
Carlentini 3
Curitiba 3
Dhaka 3
Edinburgh 3
Fortaleza 3
Hanoi 3
Totale 5.166
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Nome #
New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome. 174
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants 154
ANOMALIE CRANIO -FACCIALI, SINDATTILIA E RITARDO MENTALE MEDIO IN UNA PAZIENTE CON TRASLOCAZIONE DE NOVO APPARENTEMENTE BILANCIATA T(8;14)(Q13;Q13) 132
Intragenic ILRAPL1 deletion in a male patient with intellectual disability, mild dysmorphic signs, deafness, and behavioral problems 126
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 123
Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting 118
Mutational Analysis of BRCA1 and BRCA2 Genes in Breast Cancer Patients from Eastern Sicily 107
Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder 104
1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features 97
Antitumoural activity of a cytotoxic peptide of Lactobacillus casei peptidoglycan and its interaction with mitochondrial-bound hexokinase 95
Analisi globale dell'espressione genica e patogenesi molecolare del ritardo mentale 90
Valutazione del tasso di mutazioni spontanee nel DNA di pazienti oligoastenoteratozoospermici con frequenza elevata di aneuploidie spermatiche 90
6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: A report of five cases 84
Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome 84
Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders. 83
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism 83
12q12 deletion: A new patient contributing to genotype-phenotype correlation 81
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID 80
PARK2 microdeletion in a multiplex family with autism spectrum disorder 77
6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies. 77
Severe encephalomyopathy in a patient with homoplasmic A5814G point mutation in mitochondrial tRNA(Cys) gene 76
Copy Number Variations in Children with Tourette Syndrome: Systematic Investigation in a Clinical Setting 75
A new MRXS locus maps to the X chromosome pericentromeric region: a new syndrome or narrow definition of Sutherland-Haan genetic locus? 74
Discriminatory Weight of SNPs in Spike SARS-CoV-2 Variants: A Technically Rapid, Unambiguous, and Bioinformatically Validated Laboratory Approach 73
Narrowing the candidate region for congenital diaphragmatic hernia in chromosome 15q26: Contradictory results 72
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity 72
A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia 71
Apneic crises: A clue for MECP2 testing in severe neonatal hypotonia-respiratory failure 71
Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder 71
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. 71
Recurrent duplications of 17q12 associated with variable phenotypes 71
Trait - driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes 70
Nail aplasia, microcephaly, severe mental retardation and MRI abnormalities: report of two unrelated cases 70
Familial 1.1 Mb deletion in chromosome Xq22.1 associated with mental retardation and behavioural disorders in female patients 69
Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome 69
Quantitative evaluation of partial deletions of the DAZ gene cluster 67
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy 67
Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response 67
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes 67
MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability. 66
Aploinsufficenza del gene CELF4 in paziente con microdelezione 18q12.2 e Disturbo dello spettro Autistico 66
Schizophrenia in a patient with subtelomeric duplication of chromosome 22q 65
Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions 65
A novel L1CAM mutation in a fetus detected by prenatal diagnosis 65
DIAGNOSI PRENATALE DI CUORE SINISTRO IPOPLASICO E DELEZIONE 11q24.3-q25 ASSOCIATA A SINDROME DI JACOBSEN 65
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 65
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay 65
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures 65
Coexistence of A3243G mt-DNA and nt697 doublecortin (DCX) mutations in a female with mitochondrial Encephalomyopathy and double cortex 64
Coexistence of mitochondrial and nuclear DNA mutations in a woman with mitochondrial encephalomyopathy and double cortex 64
The molecular landscape of ASPM mutations in primary microcephaly 63
A de novo 8q22.2-24.3 duplication in a patient with mild phenotype 63
Partial monosomy Xq(Xq23 -> qter) and trisomy 4p(4p15.33 -> pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features 62
An unusual presentation of Becker Nevus 61
Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients 61
Prenatal diagnosis of ATR-X syndrome in a fetus with a new G > T splicing mutation in the XNP/ATR-X gene 60
Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome 60
GENE EXPRESSION PROFILE IN THE X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 59
Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes 59
Cryptic deletions are a common finding in "balanced'' reciprocal and complex chromosome rearrangements: A study of 59 patients 59
CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy 58
Identification of novel mutations in patients with Coffin-Lowry syndrome by a denaturing HPLC-based assay 58
Disturbo dello spettro autistico associato ad aploinsufficenza della proteina CELF4 (delezione familiare18q12.2) 58
TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion 58
Brief Report: Peculiar Evolution of Autistic Behaviors in Two Unrelated Children with Brachidactyly-Mental Retardation Syndrome 57
Sox11 Is Required to Maintain Proper Levels of Hedgehog Signaling during Vertebrate Ocular Morphogenesis 57
Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation 57
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome 57
Mutational analysis of the ATRX gene by DGGE: A powerful diagnostic approach for the ATRX syndrome 56
GENE EXPRESSION PROFILE IN THE X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 56
Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis 56
Denaturing HPLC-Based assay for molecular screening of nondeletional mutations causing alpha-thalassemias 55
EXPRESSION PROFILING IN A SEVERE FORM OF X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 55
Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome 55
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome 55
Multicentric origin of Hb constant spring [alpha(2) codon 142 TAA -> CAA] 54
Genetic variations in human fetal globin gene microsatellites and their functional relevance 54
Hematologic and molecular characterization of a Sicilian cohort of alpha thalassernia carriers 53
Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes 53
Deletion 2p25.2: A cryptic chromosome abnormality in a patient with autism and mental retardation detected using aCGH 53
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype 51
Bilateral periventricular nodular heterotopia and lissencephaly in an infant with unbalanced t(12;17)(q24.31; p13.3) translocation 50
Balanced complex rearrangements: how many are really balanced? 50
Molecular basis of alpha-thalassemia in Sicily 49
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes 49
Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations 49
Denaturing HPLC-based assay for detection of ATRX gene mutations 48
Different geographic origins of Hb constant spring [alpha(2) codon 142 TAA -> CAA] 47
Identification of novel mutations in L1CAM gene by a DHPLC-based assay 47
How microsatellite analysis can be exploited for subtelomeric chromosomal rearrangement analysis in mental retardation 47
Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletion 46
DNA mutation rate in oligoasthenoteratozoospermic patients with elevated sperm aneuploidy frequency and normal karyotype 46
The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes. 46
Molecular and clinical characterization of a small duplication Xp in a human female with psychiatric disorders 45
RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome 45
Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development 45
High occurrence of Brachydactyly-Mental Retardation syndrome among mentally retarded subjects in Italy 45
Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis 44
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome 44
EXPRESSION PROFILING IN A SEVERE FORM OF X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 43
Totale 6.775
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Categoria #
all - tutte 27.709
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 27.709
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202040 0 0 0 0 0 0 0 0 0 0 0 40
2020/2021728 12 63 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
Totale 7.521