IRIS
ROMANO, CORRADO
 Distribuzione geografica
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Continente #
NA - Nord America 9.741
AS - Asia 5.492
EU - Europa 4.422
SA - Sud America 941
AF - Africa 514
Continente sconosciuto - Info sul continente non disponibili 301
OC - Oceania 7
Totale 21.418
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Nazione #
US - Stati Uniti d'America 9.306
SG - Singapore 2.532
CN - Cina 1.538
RU - Federazione Russa 1.495
IT - Italia 1.246
BR - Brasile 784
IE - Irlanda 502
KR - Corea 380
VN - Vietnam 376
UA - Ucraina 354
CA - Canada 264
FR - Francia 245
CI - Costa d'Avorio 204
BD - Bangladesh 190
NG - Nigeria 156
GB - Regno Unito 111
DE - Germania 104
IN - India 88
SE - Svezia 87
HK - Hong Kong 62
AR - Argentina 58
MX - Messico 55
NL - Olanda 52
FI - Finlandia 49
BJ - Benin 40
PL - Polonia 38
IQ - Iraq 36
ID - Indonesia 35
ZA - Sudafrica 33
ES - Italia 30
AT - Austria 29
JM - Giamaica 28
EC - Ecuador 26
TR - Turchia 25
JP - Giappone 24
PK - Pakistan 23
VE - Venezuela 22
IR - Iran 20
MY - Malesia 20
UZ - Uzbekistan 20
CR - Costa Rica 18
TH - Thailandia 18
KE - Kenya 17
SN - Senegal 17
AE - Emirati Arabi Uniti 16
SA - Arabia Saudita 15
CO - Colombia 14
GT - Guatemala 14
MA - Marocco 14
CH - Svizzera 13
PH - Filippine 13
TT - Trinidad e Tobago 12
GR - Grecia 11
JO - Giordania 11
HN - Honduras 10
IL - Israele 10
UY - Uruguay 10
CL - Cile 9
LT - Lituania 9
PE - Perù 9
NP - Nepal 8
AL - Albania 7
EG - Egitto 7
AU - Australia 6
CW - ???statistics.table.value.countryCode.CW??? 6
DO - Repubblica Dominicana 6
OM - Oman 6
BE - Belgio 5
DK - Danimarca 5
DZ - Algeria 5
NI - Nicaragua 5
PT - Portogallo 5
PY - Paraguay 5
TN - Tunisia 5
RO - Romania 4
SC - Seychelles 4
SV - El Salvador 4
BB - Barbados 3
BF - Burkina Faso 3
BG - Bulgaria 3
GD - Grenada 3
KZ - Kazakistan 3
PA - Panama 3
PR - Porto Rico 3
RS - Serbia 3
AZ - Azerbaigian 2
BS - Bahamas 2
BW - Botswana 2
BY - Bielorussia 2
CU - Cuba 2
CY - Cipro 2
EU - Europa 2
GE - Georgia 2
GY - Guiana 2
HU - Ungheria 2
KG - Kirghizistan 2
LB - Libano 2
ML - Mali 2
MO - Macao, regione amministrativa speciale della Cina 2
SY - Repubblica araba siriana 2
Totale 21.094
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Città #
Singapore 1.509
Dallas 1.419
Santa Clara 1.229
San Jose 804
Moscow 604
Hefei 563
Chandler 543
Ashburn 505
Dublin 501
Jacksonville 392
Seoul 380
Catania 291
Boardman 283
Council Bluffs 249
Houston 236
Chicago 227
Abidjan 204
Civitanova Marche 199
Lauterbourg 198
Beijing 197
Los Angeles 173
Lawrence 136
Cambridge 134
Ho Chi Minh City 124
Toronto 116
New York 104
Andover 102
Nanjing 98
Abuja 80
Hanoi 79
Buffalo 78
São Paulo 74
Lagos 64
Des Moines 59
Hong Kong 55
Milan 53
Rome 53
Phoenix 52
Nanchang 48
Montreal 47
Brooklyn 46
Palermo 42
San Mateo 42
Cotonou 40
Wilmington 38
Atlanta 33
Denver 33
Amsterdam 32
Hebei 32
Warsaw 32
Ottawa 31
Bremen 30
Columbus 30
Dong Ket 30
San Francisco 30
Shenyang 29
Changsha 26
Rio de Janeiro 25
London 24
Saint Petersburg 24
Falls Church 23
Lappeenranta 23
Orem 23
Stockholm 23
Tokyo 23
Helsinki 22
Munich 22
The Dalles 22
Tianjin 22
Da Nang 21
Jakarta 20
Seattle 20
Charlotte 19
Vercelli 19
Belo Horizonte 18
Mexico City 18
Poplar 18
Dakar 17
Philadelphia 17
Bangkok 16
Boston 16
Chennai 16
Tehran 16
Johannesburg 15
Kingston 15
Baghdad 14
Jiaxing 14
North Bergen 14
Washington 14
Brasília 13
Guatemala City 13
Kochi 13
Shanghai 13
Bari 12
Dhaka 12
Port Harcourt 12
Amman 11
Dearborn 11
Messina 11
Mumbai 11
Totale 13.583
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Nome #
ANOMALIE CRANIO -FACCIALI, SINDATTILIA E RITARDO MENTALE MEDIO IN UNA PAZIENTE CON TRASLOCAZIONE DE NOVO APPARENTEMENTE BILANCIATA T(8;14)(Q13;Q13) 230
New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome. 207
Analisi globale dell'espressione genica e patogenesi molecolare del ritardo mentale 204
ARTROGRIPOSI MULTIPLA CONGENITA 192
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants 192
1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features 178
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 174
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism 172
An inflammatory and trophic disconnect biomarker profile revealed in Down syndrome plasma: relation to cognitive decline and longitudinal evaluation 172
A peculiar VNTR in the cystathionine ß-synthase gene is a ricsk factor for Down Syndrome 172
6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: A report of five cases 172
6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies. 167
12q12 deletion: A new patient contributing to genotype-phenotype correlation 159
A study of gene expression by RNA-seq in patients with prostate cancer and in patients with Parkinson disease: an example of inverse comorbidity 155
Seroepidemiological Survey on the Impact of Smoking on SARS-CoV-2 Infection and COVID-19 Outcomes: Protocol for the Troina Study 154
Expansion of the Genotypic and Phenotypic Spectrum of TCTN3-Related Joubert Syndrome 152
Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder 152
De novo mutation in the ARHGAP32 gene endorses the implication of GTPase-activating proteins (RhoGAP family) in idiopathic autism spectrum disorder 152
A de novo 8q22.2-24.3 duplication in a patient with mild phenotype 151
A new MRXS locus maps to the X chromosome pericentromeric region: a new syndrome or narrow definition of Sutherland-Haan genetic locus? 150
Pericentrin expression in Down's syndrome 150
Evidence for long noncoding RNA GAS5 up-regulationin patients with Klinefelter syndrome 149
12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature 149
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy 148
Trait - driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes 147
Basal body temperature curves and endocrine pattern of menstrual cycles in Down syndrome 146
A Dermatoglyphic study of a group of Sicilian children with Fra-X syndrome 145
The 9 bp Deletion between the Mitochondrial COII and Lysine tRNA Genes in a Caucasian Population with Cognitive Disorders: An Observational Study 138
The effect of laboratory-verified smoking on SARS-CoV-2 infection: results from the Troina sero-epidemiological survey 138
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures 135
Next generation sequencing expression profiling of mitochondrial subunits in men with klinefelter syndrome 134
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. 133
A new 6-bp SOX-3 polyalanine tract deletion does not segregate with mental retardation 132
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay 131
Cerebellar degeneration-related protein 1 expression in fibroblasts of patients affected by Down syndrome. 129
Population−based sero−epidemiological study protocol for the impact of smoking on SARS-CoV-2 infection and COVID-19 outcomes − The Troina study 128
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features 126
3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients 122
Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome 122
Narrowing the candidate region for congenital diaphragmatic hernia in chromosome 15q26: Contradictory results 120
The Italian XLMR bank: A clinical and molecular database 118
Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder 117
SOX13 gene down-regulation in peripheral blood mononuclear cells of patients with Klinefelter syndrome 117
mRNA expression profiling of mitochondrial subunits in subjects with Parkinson’s disease 117
Hypersensitivity to aromatic anticonvulsants: In vivo and In vitro cross-reactivity studies 116
An unusual presentation of Becker Nevus 115
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes 114
Unveiling Secondary Mutations in Blended Phenotypes: Dual ERCC4 and OTOA Pathogenic Variants Through WES Analysis 113
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID 113
Recurrent duplications of 17q12 associated with variable phenotypes 111
Role of long non-coding RNAs in Down syndrome patients: a transcriptome analysis study 109
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies 109
Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions 108
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant 108
3rd International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism 107
Cryptic deletions are a common finding in "balanced'' reciprocal and complex chromosome rearrangements: A study of 59 patients 107
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency 107
Expression of LDOC1 mRNA in leucocytes of patients with Down syndrome 105
Nail aplasia, microcephaly, severe mental retardation and MRI abnormalities: report of two unrelated cases 105
The molecular landscape of ASPM mutations in primary microcephaly 104
CCR3 gene overexpression in patients with Down syndrome 104
A polymorphism (Rs1042522) in TP53 gene is a risk factor for down syndrome in sicilian mothers 103
Low TGF-β1 plasma levels are associated with cognitive decline in Down syndrome 103
MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability 103
Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis 103
Schizophrenia in a patient with subtelomeric duplication of chromosome 22q 102
Seizures in patients with trisomy 21 102
SPAG5 mRNA is over-expressed in peripheral blood leukocytes of patients with Down's syndrome and cryptorchidism. 102
A further family with epilepsy, dementia and yellow teeth: the Kohlschütter syndrome 101
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants 101
Environmental influence on the worldwide prevalence of a 776C→G variant in the transcobalamin gene (TCN2) 101
Familial 1.1 Mb deletion in chromosome Xq22.1 associated with mental retardation and behavioural disorders in female patients 100
Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes 99
Facial midline defect in the fetal alcohol syndrome. Embryogenetic considerations in two clinical cases 98
GENE EXPRESSION PROFILE IN THE X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 98
GENE EXPRESSION PROFILE IN THE X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 98
8p23.2-pter microdeletions: Seven new cases narrowing the candidate region and review of the literature 98
Prevalence of methylenetetrahydrofolate reductase 677T and 1298C alleles and folate status: A comparative study in Mexican, West African, and European populations 97
KIF21A mRNA over-expression in patients with Down syndrome 97
Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation 97
Prenatal diagnosis of ATR-X syndrome in a fetus with a new G > T splicing mutation in the XNP/ATR-X gene 96
TBC1D24 gene mRNA expression in a boy with early infantile epileptic encephalopathy-16 96
The Methylenetetrahydrofolate Reductase C677T Polymorphism and Risk for Late-Onset Alzheimer's disease: Further Evidence in an Italian Multicenter Study 95
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies 95
Mitochondrial DNA involvement in patients with autism spectrum disorders and intellectual disability 95
Focus on Clinical and Genetic Aspects of PKAN Through the Description of New Patients 94
Is there a relationship between zinc and the peculiar comorbidities of Down syndrome? 94
GPR56 gene down-regulation in patients with Klinefelter Syndrome: A candidate for infertility? 94
NF-kB1 gene expression in Down syndrome patients 93
Sulphation deficit in 'low-functioning' autistic children: A pilot study 93
Genetic determinants of folate and vitamin B12 metabolism: A common pathway in neural tube defect and Down syndrome? 93
Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome 93
The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes. 93
Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes 92
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome 92
Fenotipi dismorfici e probabili varianti polimorfiche subtelomeriche in una popolazione di 500 soggetti con ritardo mentale 92
2nd International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism 91
EXPRESSION PROFILING IN A SEVERE FORM OF X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 91
Identification of novel mutations in patients with Coffin-Lowry syndrome by a denaturing HPLC-based assay 90
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform 90
Totale 12.268
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Categoria #
all - tutte 74.665
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 74.665
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022710 0 0 0 0 119 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
2025/202610.021 620 921 1.553 581 1.498 1.692 1.010 335 551 497 312 451
2026/20271.936 385 388 211 943 9 0 0 0 0 0 0 0
Totale 21.418