IRIS
ROMANO, CORRADO
 Distribuzione geografica
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Continente #
NA - Nord America 6.691
AS - Asia 4.419
EU - Europa 3.598
SA - Sud America 766
AF - Africa 337
OC - Oceania 4
Continente sconosciuto - Info sul continente non disponibili 3
Totale 15.818
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Nazione #
US - Stati Uniti d'America 6.475
SG - Singapore 2.299
RU - Federazione Russa 1.486
CN - Cina 1.388
IT - Italia 838
BR - Brasile 677
IE - Irlanda 499
UA - Ucraina 347
KR - Corea 260
VN - Vietnam 206
CI - Costa d'Avorio 202
CA - Canada 160
DE - Germania 92
GB - Regno Unito 75
IN - India 70
SE - Svezia 49
AR - Argentina 42
BJ - Benin 40
FI - Finlandia 40
MX - Messico 37
NL - Olanda 34
NG - Nigeria 31
FR - Francia 30
PL - Polonia 30
BD - Bangladesh 24
ZA - Sudafrica 23
AT - Austria 20
IR - Iran 20
HK - Hong Kong 18
JP - Giappone 18
ID - Indonesia 16
SN - Senegal 16
EC - Ecuador 15
IQ - Iraq 15
TR - Turchia 15
UZ - Uzbekistan 14
ES - Italia 13
PK - Pakistan 11
VE - Venezuela 11
AE - Emirati Arabi Uniti 8
CH - Svizzera 8
GR - Grecia 8
LT - Lituania 6
MA - Marocco 6
IL - Israele 5
JM - Giamaica 5
BE - Belgio 4
CL - Cile 4
CO - Colombia 4
DK - Danimarca 4
DO - Repubblica Dominicana 4
JO - Giordania 4
KE - Kenya 4
PE - Perù 4
PY - Paraguay 4
SA - Arabia Saudita 4
AU - Australia 3
BF - Burkina Faso 3
BG - Bulgaria 3
EG - Egitto 3
MY - Malesia 3
NP - Nepal 3
OM - Oman 3
TN - Tunisia 3
UY - Uruguay 3
AL - Albania 2
BB - Barbados 2
BW - Botswana 2
CU - Cuba 2
EU - Europa 2
LB - Libano 2
MO - Macao, regione amministrativa speciale della Cina 2
PA - Panama 2
PT - Portogallo 2
TH - Thailandia 2
TT - Trinidad e Tobago 2
AD - Andorra 1
AZ - Azerbaigian 1
BA - Bosnia-Erzegovina 1
BH - Bahrain 1
BN - Brunei Darussalam 1
BY - Bielorussia 1
CM - Camerun 1
CR - Costa Rica 1
CZ - Repubblica Ceca 1
DZ - Algeria 1
GE - Georgia 1
GY - Guiana 1
HR - Croazia 1
KG - Kirghizistan 1
KH - Cambogia 1
LA - Repubblica Popolare Democratica del Laos 1
MD - Moldavia 1
ML - Mali 1
MW - Malawi 1
PH - Filippine 1
PS - Palestinian Territory 1
SI - Slovenia 1
SK - Slovacchia (Repubblica Slovacca) 1
SR - Suriname 1
Totale 15.815
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Città #
Dallas 1.394
Singapore 1.353
Santa Clara 1.147
Moscow 604
Hefei 562
Chandler 542
Dublin 499
Jacksonville 386
Boardman 282
Seoul 260
Ashburn 230
Houston 226
Chicago 207
Abidjan 202
Civitanova Marche 199
Beijing 162
Catania 161
Lawrence 134
Cambridge 133
Los Angeles 114
Andover 102
Toronto 102
Nanjing 98
Ho Chi Minh City 61
Des Moines 59
Buffalo 58
São Paulo 51
Nanchang 47
San Mateo 42
Cotonou 40
Hanoi 37
New York 35
Wilmington 35
Hebei 32
Rome 31
Abuja 30
Bremen 30
Dong Ket 30
Milan 30
Shenyang 29
Ottawa 27
Changsha 26
Saint Petersburg 24
Warsaw 24
Council Bluffs 23
Falls Church 23
Columbus 22
Munich 22
Amsterdam 21
Brooklyn 21
Montreal 21
The Dalles 21
Tianjin 21
Lappeenranta 20
San Francisco 20
Palermo 19
Rio de Janeiro 19
Tokyo 18
Vercelli 18
Belo Horizonte 17
Dakar 16
Helsinki 16
London 16
Seattle 16
Stockholm 16
Tehran 16
Chennai 15
Denver 15
Hong Kong 15
Jiaxing 14
Mexico City 14
Phoenix 14
Kochi 13
Poplar 13
Boston 12
Da Nang 12
San Jose 12
Atlanta 11
Brasília 11
Dearborn 11
Johannesburg 11
Ningbo 11
Porto Alegre 11
Messina 10
Mumbai 10
Norwalk 10
Orem 10
Fortaleza 9
Vienna 9
Washington 9
Aci Catena 8
Augusta 8
Caxias do Sul 8
Charlotte 8
Dhaka 8
Kunming 8
Nocera Inferiore 8
Redondo Beach 8
Bari 7
Curitiba 7
Totale 10.659
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Nome #
New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome. 192
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants 176
ANOMALIE CRANIO -FACCIALI, SINDATTILIA E RITARDO MENTALE MEDIO IN UNA PAZIENTE CON TRASLOCAZIONE DE NOVO APPARENTEMENTE BILANCIATA T(8;14)(Q13;Q13) 175
ARTROGRIPOSI MULTIPLA CONGENITA 166
Analisi globale dell'espressione genica e patogenesi molecolare del ritardo mentale 152
1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features 149
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 149
A peculiar VNTR in the cystathionine ß-synthase gene is a ricsk factor for Down Syndrome 143
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism 142
6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: A report of five cases 138
A study of gene expression by RNA-seq in patients with prostate cancer and in patients with Parkinson disease: an example of inverse comorbidity 135
6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies. 131
12q12 deletion: A new patient contributing to genotype-phenotype correlation 130
A new MRXS locus maps to the X chromosome pericentromeric region: a new syndrome or narrow definition of Sutherland-Haan genetic locus? 126
Evidence for long noncoding RNA GAS5 up-regulationin patients with Klinefelter syndrome 126
An inflammatory and trophic disconnect biomarker profile revealed in Down syndrome plasma: relation to cognitive decline and longitudinal evaluation 125
Pericentrin expression in Down's syndrome 124
Seroepidemiological Survey on the Impact of Smoking on SARS-CoV-2 Infection and COVID-19 Outcomes: Protocol for the Troina Study 124
Trait - driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes 123
A de novo 8q22.2-24.3 duplication in a patient with mild phenotype 122
A Dermatoglyphic study of a group of Sicilian children with Fra-X syndrome 120
Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder 119
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy 118
Next generation sequencing expression profiling of mitochondrial subunits in men with klinefelter syndrome 114
Cerebellar degeneration-related protein 1 expression in fibroblasts of patients affected by Down syndrome. 114
The effect of laboratory-verified smoking on SARS-CoV-2 infection: results from the Troina sero-epidemiological survey 113
A new 6-bp SOX-3 polyalanine tract deletion does not segregate with mental retardation 112
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. 112
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures 108
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay 106
12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature 106
Narrowing the candidate region for congenital diaphragmatic hernia in chromosome 15q26: Contradictory results 102
3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients 101
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID 101
Population−based sero−epidemiological study protocol for the impact of smoking on SARS-CoV-2 infection and COVID-19 outcomes − The Troina study 100
Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome 99
An unusual presentation of Becker Nevus 96
mRNA expression profiling of mitochondrial subunits in subjects with Parkinson’s disease 95
Role of long non-coding RNAs in Down syndrome patients: a transcriptome analysis study 94
Expression of LDOC1 mRNA in leucocytes of patients with Down syndrome 92
Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder 92
Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions 90
SOX13 gene down-regulation in peripheral blood mononuclear cells of patients with Klinefelter syndrome 90
Nail aplasia, microcephaly, severe mental retardation and MRI abnormalities: report of two unrelated cases 89
Recurrent duplications of 17q12 associated with variable phenotypes 89
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes 89
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features 88
The molecular landscape of ASPM mutations in primary microcephaly 88
SPAG5 mRNA is over-expressed in peripheral blood leukocytes of patients with Down's syndrome and cryptorchidism. 88
MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability. 87
The 9 bp Deletion between the Mitochondrial COII and Lysine tRNA Genes in a Caucasian Population with Cognitive Disorders: An Observational Study 86
Familial 1.1 Mb deletion in chromosome Xq22.1 associated with mental retardation and behavioural disorders in female patients 86
CCR3 gene overexpression in patients with Down syndrome 86
Schizophrenia in a patient with subtelomeric duplication of chromosome 22q 85
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant 85
3rd International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism 82
Seizures in patients with trisomy 21 82
Cryptic deletions are a common finding in "balanced'' reciprocal and complex chromosome rearrangements: A study of 59 patients 82
Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis 82
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency 82
Low TGF-β1 plasma levels are associated with cognitive decline in Down syndrome 80
Prenatal diagnosis of ATR-X syndrome in a fetus with a new G > T splicing mutation in the XNP/ATR-X gene 80
A polymorphism (Rs1042522) in TP53 gene is a risk factor for down syndrome in sicilian mothers 79
KIF21A mRNA over-expression in patients with Down syndrome 79
Expansion of the Genotypic and Phenotypic Spectrum of TCTN3-Related Joubert Syndrome 78
Mitochondrial DNA involvement in patients with autism spectrum disorders and intellectual disability 78
Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes 78
TBC1D24 gene mRNA expression in a boy with early infantile epileptic encephalopathy-16 78
Is there a relationship between zinc and the peculiar comorbidities of Down syndrome? 76
GENE EXPRESSION PROFILE IN THE X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 76
Psychopathologic disorder in Prader-Willi syndrome 76
GENE EXPRESSION PROFILE IN THE X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 76
EXPRESSION PROFILING IN A SEVERE FORM OF X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 75
Unveiling Secondary Mutations in Blended Phenotypes: Dual ERCC4 and OTOA Pathogenic Variants Through WES Analysis 74
Identification of novel mutations in patients with Coffin-Lowry syndrome by a denaturing HPLC-based assay 73
The Italian Pilot project on the NF Registry 73
Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation 73
Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes 73
RFLP analysis in 5 Sicilian families with the fragile X syndrome 72
Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome 72
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform 72
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome 72
GPR56 gene down-regulation in patients with Klinefelter Syndrome: A candidate for infertility? 72
2nd International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism 71
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome 71
8p23.2-pter microdeletions: Seven new cases narrowing the candidate region and review of the literature 71
A further family with epilepsy, dementia and yellow teeth: the Kohlschütter syndrome 70
FREQUENZA DELLE CONVULSIONI FEBBRILI NEI BAMBINI DOWN 70
Gene expression profiling and qRT-PCR expression of RRP1B, PCNT, KIF21A and ADRB2 in leucocytes of Down's syndrome subjects 70
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms 70
Humanin gene expression in fibroblast of down syndrome subjects 70
NF-kB1 gene expression in Down syndrome patients 69
Inserto monografico: Le malattie genetiche oggi. L’esempio della sindrome di Prader Willi. 69
Balanced complex rearrangements: how many are really balanced? 69
Allele ε4 of apolipoprotein E gene is less frequent in Down syndrome patient of the Sicilian population and has no influence on the grade of mental retardation 68
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants 68
Expanding CEP290 mutational spectrumin ciliopathies 68
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. 68
Mitochondrial mRNA expression in fibroblasts of Down syndrome subjects 68
Brain dysfunction and the immune system: lymphocyte's beta-adrenergic receptor in Down syndrome. 67
Totale 9.610
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Categoria #
all - tutte 54.533
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 54.533
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021290 0 0 0 0 0 12 84 6 50 9 84 45
2021/2022931 89 103 12 17 119 12 111 47 91 45 22 263
2022/20231.733 156 63 31 170 155 301 7 262 437 26 59 66
2023/2024644 37 89 44 32 25 122 7 61 13 19 121 74
2024/20254.431 124 589 365 278 1.036 409 76 128 263 408 324 431
2025/20266.644 620 921 1.553 581 1.498 1.471 0 0 0 0 0 0
Totale 16.105