IRIS
ROMANO, CORRADO
 Distribuzione geografica
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Continente #
NA - Nord America 8.746
AS - Asia 5.479
EU - Europa 4.346
SA - Sud America 930
AF - Africa 511
Continente sconosciuto - Info sul continente non disponibili 293
OC - Oceania 7
Totale 20.312
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Nazione #
US - Stati Uniti d'America 8.383
SG - Singapore 2.530
CN - Cina 1.536
RU - Federazione Russa 1.489
IT - Italia 1.195
BR - Brasile 775
IE - Irlanda 501
KR - Corea 380
VN - Vietnam 376
UA - Ucraina 354
FR - Francia 245
CA - Canada 234
CI - Costa d'Avorio 204
BD - Bangladesh 188
NG - Nigeria 156
DE - Germania 103
GB - Regno Unito 100
IN - India 87
SE - Svezia 87
HK - Hong Kong 62
AR - Argentina 58
MX - Messico 54
NL - Olanda 51
FI - Finlandia 49
BJ - Benin 40
PL - Polonia 37
IQ - Iraq 36
ID - Indonesia 35
ZA - Sudafrica 33
AT - Austria 29
ES - Italia 27
EC - Ecuador 26
TR - Turchia 25
JP - Giappone 24
JM - Giamaica 22
PK - Pakistan 22
VE - Venezuela 21
IR - Iran 20
MY - Malesia 20
UZ - Uzbekistan 20
TH - Thailandia 18
KE - Kenya 17
SN - Senegal 17
AE - Emirati Arabi Uniti 16
SA - Arabia Saudita 15
MA - Marocco 14
CH - Svizzera 13
CO - Colombia 13
PH - Filippine 13
CR - Costa Rica 12
JO - Giordania 11
GR - Grecia 10
UY - Uruguay 10
CL - Cile 9
LT - Lituania 9
PE - Perù 9
NP - Nepal 8
AL - Albania 7
EG - Egitto 7
GT - Guatemala 7
IL - Israele 7
AU - Australia 6
DO - Repubblica Dominicana 6
OM - Oman 6
BE - Belgio 5
DK - Danimarca 5
DZ - Algeria 5
HN - Honduras 5
PT - Portogallo 5
PY - Paraguay 5
TN - Tunisia 5
RO - Romania 4
TT - Trinidad e Tobago 4
BB - Barbados 3
BF - Burkina Faso 3
BG - Bulgaria 3
GD - Grenada 3
KZ - Kazakistan 3
PA - Panama 3
RS - Serbia 3
SV - El Salvador 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
LB - Libano 2
ML - Mali 2
MO - Macao, regione amministrativa speciale della Cina 2
SY - Repubblica araba siriana 2
AD - Andorra 1
BA - Bosnia-Erzegovina 1
BH - Bahrain 1
BM - Bermuda 1
BN - Brunei Darussalam 1
Totale 19.994
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Città #
Singapore 1.509
Dallas 1.409
Santa Clara 1.213
San Jose 637
Moscow 604
Hefei 563
Chandler 542
Dublin 501
Ashburn 419
Jacksonville 390
Seoul 380
Catania 289
Boardman 283
Council Bluffs 248
Houston 233
Chicago 222
Abidjan 204
Civitanova Marche 199
Lauterbourg 198
Beijing 197
Los Angeles 163
Lawrence 136
Cambridge 134
Ho Chi Minh City 124
Toronto 113
Andover 102
New York 99
Nanjing 98
Abuja 80
Hanoi 79
Buffalo 77
São Paulo 67
Lagos 64
Des Moines 59
Hong Kong 55
Milan 50
Nanchang 48
Rome 48
Palermo 42
San Mateo 42
Cotonou 40
Phoenix 40
Montreal 39
Wilmington 36
Brooklyn 34
Hebei 32
Amsterdam 31
Warsaw 31
Bremen 30
Denver 30
Dong Ket 30
Ottawa 29
Shenyang 29
Atlanta 28
San Francisco 28
Changsha 26
Columbus 25
Rio de Janeiro 25
Saint Petersburg 24
Falls Church 23
Lappeenranta 23
London 23
Orem 23
Stockholm 23
Tokyo 23
Helsinki 22
Munich 22
Tianjin 22
Da Nang 21
The Dalles 21
Jakarta 20
Vercelli 19
Belo Horizonte 18
Mexico City 18
Poplar 18
Seattle 18
Dakar 17
Bangkok 16
Chennai 16
Tehran 16
Johannesburg 15
Baghdad 14
Boston 14
Jiaxing 14
Charlotte 13
Kochi 13
Shanghai 13
Brasília 12
Dhaka 12
Kingston 12
Port Harcourt 12
Washington 12
Amman 11
Bari 11
Dearborn 11
Messina 11
Nairobi 11
Ningbo 11
Philadelphia 11
Porto Alegre 11
Totale 13.173
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Nome #
New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome. 204
ANOMALIE CRANIO -FACCIALI, SINDATTILIA E RITARDO MENTALE MEDIO IN UNA PAZIENTE CON TRASLOCAZIONE DE NOVO APPARENTEMENTE BILANCIATA T(8;14)(Q13;Q13) 195
ARTROGRIPOSI MULTIPLA CONGENITA 190
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants 186
Analisi globale dell'espressione genica e patogenesi molecolare del ritardo mentale 179
1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features 173
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 170
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism 167
An inflammatory and trophic disconnect biomarker profile revealed in Down syndrome plasma: relation to cognitive decline and longitudinal evaluation 164
A peculiar VNTR in the cystathionine ß-synthase gene is a ricsk factor for Down Syndrome 164
6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: A report of five cases 160
6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies. 157
12q12 deletion: A new patient contributing to genotype-phenotype correlation 152
Seroepidemiological Survey on the Impact of Smoking on SARS-CoV-2 Infection and COVID-19 Outcomes: Protocol for the Troina Study 150
A study of gene expression by RNA-seq in patients with prostate cancer and in patients with Parkinson disease: an example of inverse comorbidity 149
A new MRXS locus maps to the X chromosome pericentromeric region: a new syndrome or narrow definition of Sutherland-Haan genetic locus? 147
Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder 147
A de novo 8q22.2-24.3 duplication in a patient with mild phenotype 146
Evidence for long noncoding RNA GAS5 up-regulationin patients with Klinefelter syndrome 146
12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature 144
Expansion of the Genotypic and Phenotypic Spectrum of TCTN3-Related Joubert Syndrome 143
Trait - driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes 143
Pericentrin expression in Down's syndrome 142
A Dermatoglyphic study of a group of Sicilian children with Fra-X syndrome 141
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy 141
Basal body temperature curves and endocrine pattern of menstrual cycles in Down syndrome 138
The 9 bp Deletion between the Mitochondrial COII and Lysine tRNA Genes in a Caucasian Population with Cognitive Disorders: An Observational Study 135
Next generation sequencing expression profiling of mitochondrial subunits in men with klinefelter syndrome 132
The effect of laboratory-verified smoking on SARS-CoV-2 infection: results from the Troina sero-epidemiological survey 131
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures 130
A new 6-bp SOX-3 polyalanine tract deletion does not segregate with mental retardation 128
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. 128
De novo mutation in the ARHGAP32 gene endorses the implication of GTPase-activating proteins (RhoGAP family) in idiopathic autism spectrum disorder 127
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay 124
Cerebellar degeneration-related protein 1 expression in fibroblasts of patients affected by Down syndrome. 124
Population−based sero−epidemiological study protocol for the impact of smoking on SARS-CoV-2 infection and COVID-19 outcomes − The Troina study 124
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features 123
3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients 119
Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome 119
Narrowing the candidate region for congenital diaphragmatic hernia in chromosome 15q26: Contradictory results 117
SOX13 gene down-regulation in peripheral blood mononuclear cells of patients with Klinefelter syndrome 114
The Italian XLMR bank: A clinical and molecular database 113
mRNA expression profiling of mitochondrial subunits in subjects with Parkinson’s disease 113
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID 111
Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder 111
An unusual presentation of Becker Nevus 110
Unveiling Secondary Mutations in Blended Phenotypes: Dual ERCC4 and OTOA Pathogenic Variants Through WES Analysis 108
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes 107
Role of long non-coding RNAs in Down syndrome patients: a transcriptome analysis study 105
Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions 105
Recurrent duplications of 17q12 associated with variable phenotypes 105
Hypersensitivity to aromatic anticonvulsants: In vivo and In vitro cross-reactivity studies 103
3rd International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism 103
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies 103
Expression of LDOC1 mRNA in leucocytes of patients with Down syndrome 102
Low TGF-β1 plasma levels are associated with cognitive decline in Down syndrome 101
Nail aplasia, microcephaly, severe mental retardation and MRI abnormalities: report of two unrelated cases 101
MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability 101
Cryptic deletions are a common finding in "balanced'' reciprocal and complex chromosome rearrangements: A study of 59 patients 101
Schizophrenia in a patient with subtelomeric duplication of chromosome 22q 100
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency 100
The molecular landscape of ASPM mutations in primary microcephaly 99
Seizures in patients with trisomy 21 99
SPAG5 mRNA is over-expressed in peripheral blood leukocytes of patients with Down's syndrome and cryptorchidism. 99
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant 99
CCR3 gene overexpression in patients with Down syndrome 99
A polymorphism (Rs1042522) in TP53 gene is a risk factor for down syndrome in sicilian mothers 98
Familial 1.1 Mb deletion in chromosome Xq22.1 associated with mental retardation and behavioural disorders in female patients 97
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants 96
Environmental influence on the worldwide prevalence of a 776C→G variant in the transcobalamin gene (TCN2) 96
A further family with epilepsy, dementia and yellow teeth: the Kohlschütter syndrome 95
GENE EXPRESSION PROFILE IN THE X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 95
Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes 95
GENE EXPRESSION PROFILE IN THE X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 95
KIF21A mRNA over-expression in patients with Down syndrome 94
Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation 94
Facial midline defect in the fetal alcohol syndrome. Embryogenetic considerations in two clinical cases 93
8p23.2-pter microdeletions: Seven new cases narrowing the candidate region and review of the literature 93
Mitochondrial DNA involvement in patients with autism spectrum disorders and intellectual disability 92
Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis 92
The Methylenetetrahydrofolate Reductase C677T Polymorphism and Risk for Late-Onset Alzheimer's disease: Further Evidence in an Italian Multicenter Study 91
Prenatal diagnosis of ATR-X syndrome in a fetus with a new G > T splicing mutation in the XNP/ATR-X gene 91
TBC1D24 gene mRNA expression in a boy with early infantile epileptic encephalopathy-16 91
NF-kB1 gene expression in Down syndrome patients 90
Is there a relationship between zinc and the peculiar comorbidities of Down syndrome? 90
EXPRESSION PROFILING IN A SEVERE FORM OF X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 90
Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome 90
GPR56 gene down-regulation in patients with Klinefelter Syndrome: A candidate for infertility? 90
Genetic determinants of folate and vitamin B12 metabolism: A common pathway in neural tube defect and Down syndrome? 89
Focus on Clinical and Genetic Aspects of PKAN Through the Description of New Patients 89
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies 89
Prevalence of methylenetetrahydrofolate reductase 677T and 1298C alleles and folate status: A comparative study in Mexican, West African, and European populations 88
2nd International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism 88
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome 88
Identification of novel mutations in patients with Coffin-Lowry syndrome by a denaturing HPLC-based assay 87
Sulphation deficit in 'low-functioning' autistic children: A pilot study 86
RFLP analysis in 5 Sicilian families with the fragile X syndrome 86
Methionine synthase (MTR) 2756 (A --> G) polymorphism, double heterozygositymethionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, andelevated homocysteinemia are three risk factors for having a child with Down syndrome 86
Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes 85
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform 85
Totale 11.705
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Categoria #
all - tutte 69.854
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 69.854
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022739 0 0 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
2025/202610.021 620 921 1.553 581 1.498 1.692 1.010 335 551 497 312 451
2026/2027830 385 388 57 0 0 0 0 0 0 0 0 0
Totale 20.312