IRIS
ROMANO, CORRADO
 Distribuzione geografica
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Continente #
NA - Nord America 8.278
AS - Asia 5.434
EU - Europa 4.274
SA - Sud America 919
AF - Africa 511
OC - Oceania 6
Continente sconosciuto - Info sul continente non disponibili 3
Totale 19.425
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Nazione #
US - Stati Uniti d'America 7.950
SG - Singapore 2.522
CN - Cina 1.518
RU - Federazione Russa 1.489
IT - Italia 1.158
BR - Brasile 774
IE - Irlanda 501
KR - Corea 380
VN - Vietnam 372
UA - Ucraina 354
FR - Francia 245
CA - Canada 217
CI - Costa d'Avorio 204
BD - Bangladesh 183
NG - Nigeria 156
DE - Germania 101
GB - Regno Unito 100
IN - India 87
AR - Argentina 58
HK - Hong Kong 56
SE - Svezia 56
MX - Messico 53
NL - Olanda 50
FI - Finlandia 49
BJ - Benin 40
PL - Polonia 37
IQ - Iraq 36
ID - Indonesia 34
ZA - Sudafrica 33
AT - Austria 29
ES - Italia 27
TR - Turchia 25
JP - Giappone 24
EC - Ecuador 23
PK - Pakistan 22
IR - Iran 20
MY - Malesia 20
UZ - Uzbekistan 20
VE - Venezuela 20
JM - Giamaica 17
KE - Kenya 17
SN - Senegal 17
AE - Emirati Arabi Uniti 16
TH - Thailandia 16
SA - Arabia Saudita 15
MA - Marocco 14
CH - Svizzera 13
PH - Filippine 13
GR - Grecia 10
JO - Giordania 10
UY - Uruguay 10
CL - Cile 9
LT - Lituania 9
CO - Colombia 8
CR - Costa Rica 8
NP - Nepal 8
PE - Perù 8
AL - Albania 7
EG - Egitto 7
IL - Israele 7
DO - Repubblica Dominicana 6
OM - Oman 6
AU - Australia 5
BE - Belgio 5
DK - Danimarca 5
DZ - Algeria 5
GT - Guatemala 5
PT - Portogallo 5
PY - Paraguay 5
TN - Tunisia 5
RO - Romania 4
BB - Barbados 3
BF - Burkina Faso 3
BG - Bulgaria 3
HN - Honduras 3
KZ - Kazakistan 3
PA - Panama 3
RS - Serbia 3
SV - El Salvador 3
TT - Trinidad e Tobago 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
BO - Bolivia 1
Totale 19.399
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Città #
Singapore 1.502
Dallas 1.407
Santa Clara 1.196
San Jose 633
Moscow 604
Hefei 563
Chandler 542
Dublin 501
Ashburn 404
Jacksonville 389
Seoul 380
Catania 287
Boardman 283
Houston 232
Chicago 219
Abidjan 204
Civitanova Marche 199
Lauterbourg 198
Beijing 182
Los Angeles 160
Lawrence 135
Cambridge 134
Ho Chi Minh City 124
Toronto 110
Andover 102
Nanjing 98
New York 92
Abuja 80
Hanoi 77
Buffalo 75
São Paulo 67
Lagos 64
Des Moines 59
Council Bluffs 57
Hong Kong 49
Nanchang 48
Rome 48
Milan 44
San Mateo 42
Cotonou 40
Montreal 38
Wilmington 36
Palermo 33
Brooklyn 32
Hebei 32
Amsterdam 31
Warsaw 31
Bremen 30
Dong Ket 30
Ottawa 29
Shenyang 29
Denver 28
San Francisco 28
Changsha 26
Columbus 25
Atlanta 24
Rio de Janeiro 24
Saint Petersburg 24
Falls Church 23
Lappeenranta 23
Orem 23
Phoenix 23
Stockholm 23
Tokyo 23
Helsinki 22
London 22
Munich 22
Tianjin 22
Da Nang 21
The Dalles 21
Jakarta 20
Vercelli 19
Belo Horizonte 18
Mexico City 18
Poplar 18
Dakar 17
Seattle 17
Bangkok 16
Chennai 16
Tehran 16
Johannesburg 15
Baghdad 14
Boston 14
Jiaxing 14
Kochi 13
Brasília 12
Charlotte 12
Port Harcourt 12
Bari 11
Dearborn 11
Dhaka 11
Messina 11
Nairobi 11
Ningbo 11
Porto Alegre 11
Shanghai 11
Tashkent 11
Vienna 11
Amman 10
Caxias do Sul 10
Totale 12.839
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Nome #
New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome. 203
ANOMALIE CRANIO -FACCIALI, SINDATTILIA E RITARDO MENTALE MEDIO IN UNA PAZIENTE CON TRASLOCAZIONE DE NOVO APPARENTEMENTE BILANCIATA T(8;14)(Q13;Q13) 192
ARTROGRIPOSI MULTIPLA CONGENITA 190
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants 185
Analisi globale dell'espressione genica e patogenesi molecolare del ritardo mentale 176
1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features 170
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 168
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism 162
A peculiar VNTR in the cystathionine ß-synthase gene is a ricsk factor for Down Syndrome 161
An inflammatory and trophic disconnect biomarker profile revealed in Down syndrome plasma: relation to cognitive decline and longitudinal evaluation 159
6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: A report of five cases 156
6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies. 152
12q12 deletion: A new patient contributing to genotype-phenotype correlation 150
Seroepidemiological Survey on the Impact of Smoking on SARS-CoV-2 Infection and COVID-19 Outcomes: Protocol for the Troina Study 149
A study of gene expression by RNA-seq in patients with prostate cancer and in patients with Parkinson disease: an example of inverse comorbidity 147
A new MRXS locus maps to the X chromosome pericentromeric region: a new syndrome or narrow definition of Sutherland-Haan genetic locus? 145
Evidence for long noncoding RNA GAS5 up-regulationin patients with Klinefelter syndrome 145
Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder 144
A de novo 8q22.2-24.3 duplication in a patient with mild phenotype 142
Expansion of the Genotypic and Phenotypic Spectrum of TCTN3-Related Joubert Syndrome 140
Trait - driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes 140
A Dermatoglyphic study of a group of Sicilian children with Fra-X syndrome 140
Pericentrin expression in Down's syndrome 139
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy 138
The 9 bp Deletion between the Mitochondrial COII and Lysine tRNA Genes in a Caucasian Population with Cognitive Disorders: An Observational Study 135
12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature 132
Basal body temperature curves and endocrine pattern of menstrual cycles in Down syndrome 131
Next generation sequencing expression profiling of mitochondrial subunits in men with klinefelter syndrome 130
The effect of laboratory-verified smoking on SARS-CoV-2 infection: results from the Troina sero-epidemiological survey 130
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures 128
A new 6-bp SOX-3 polyalanine tract deletion does not segregate with mental retardation 126
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. 124
Cerebellar degeneration-related protein 1 expression in fibroblasts of patients affected by Down syndrome. 124
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features 121
Population−based sero−epidemiological study protocol for the impact of smoking on SARS-CoV-2 infection and COVID-19 outcomes − The Troina study 121
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay 120
3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients 117
Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome 117
Narrowing the candidate region for congenital diaphragmatic hernia in chromosome 15q26: Contradictory results 116
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID 111
SOX13 gene down-regulation in peripheral blood mononuclear cells of patients with Klinefelter syndrome 111
mRNA expression profiling of mitochondrial subunits in subjects with Parkinson’s disease 110
Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder 108
An unusual presentation of Becker Nevus 108
The Italian XLMR bank: A clinical and molecular database 107
De novo mutation in the ARHGAP32 gene endorses the implication of GTPase-activating proteins (RhoGAP family) in idiopathic autism spectrum disorder 106
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes 105
Unveiling Secondary Mutations in Blended Phenotypes: Dual ERCC4 and OTOA Pathogenic Variants Through WES Analysis 104
Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions 102
Recurrent duplications of 17q12 associated with variable phenotypes 102
3rd International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism 101
Role of long non-coding RNAs in Down syndrome patients: a transcriptome analysis study 101
Cryptic deletions are a common finding in "balanced'' reciprocal and complex chromosome rearrangements: A study of 59 patients 101
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies 101
Low TGF-β1 plasma levels are associated with cognitive decline in Down syndrome 99
Expression of LDOC1 mRNA in leucocytes of patients with Down syndrome 99
Nail aplasia, microcephaly, severe mental retardation and MRI abnormalities: report of two unrelated cases 99
MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability 99
Schizophrenia in a patient with subtelomeric duplication of chromosome 22q 98
CCR3 gene overexpression in patients with Down syndrome 98
The molecular landscape of ASPM mutations in primary microcephaly 97
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency 97
SPAG5 mRNA is over-expressed in peripheral blood leukocytes of patients with Down's syndrome and cryptorchidism. 96
A polymorphism (Rs1042522) in TP53 gene is a risk factor for down syndrome in sicilian mothers 95
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant 95
Familial 1.1 Mb deletion in chromosome Xq22.1 associated with mental retardation and behavioural disorders in female patients 94
GENE EXPRESSION PROFILE IN THE X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 94
KIF21A mRNA over-expression in patients with Down syndrome 93
Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes 93
8p23.2-pter microdeletions: Seven new cases narrowing the candidate region and review of the literature 93
A further family with epilepsy, dementia and yellow teeth: the Kohlschütter syndrome 92
Hypersensitivity to aromatic anticonvulsants: In vivo and In vitro cross-reactivity studies 92
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants 92
Seizures in patients with trisomy 21 92
GENE EXPRESSION PROFILE IN THE X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 92
Mitochondrial DNA involvement in patients with autism spectrum disorders and intellectual disability 91
Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation 91
Facial midline defect in the fetal alcohol syndrome. Embryogenetic considerations in two clinical cases 90
The Methylenetetrahydrofolate Reductase C677T Polymorphism and Risk for Late-Onset Alzheimer's disease: Further Evidence in an Italian Multicenter Study 90
Prenatal diagnosis of ATR-X syndrome in a fetus with a new G > T splicing mutation in the XNP/ATR-X gene 90
Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis 90
EXPRESSION PROFILING IN A SEVERE FORM OF X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 89
TBC1D24 gene mRNA expression in a boy with early infantile epileptic encephalopathy-16 89
Is there a relationship between zinc and the peculiar comorbidities of Down syndrome? 88
Genetic determinants of folate and vitamin B12 metabolism: A common pathway in neural tube defect and Down syndrome? 87
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome 87
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies 86
GPR56 gene down-regulation in patients with Klinefelter Syndrome: A candidate for infertility? 86
NF-kB1 gene expression in Down syndrome patients 85
Prevalence of methylenetetrahydrofolate reductase 677T and 1298C alleles and folate status: A comparative study in Mexican, West African, and European populations 85
2nd International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism 85
Focus on Clinical and Genetic Aspects of PKAN Through the Description of New Patients 85
Identification of novel mutations in patients with Coffin-Lowry syndrome by a denaturing HPLC-based assay 85
Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome 85
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 85
Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes 84
RFLP analysis in 5 Sicilian families with the fragile X syndrome 83
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome 83
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform 83
FREQUENZA DELLE CONVULSIONI FEBBRILI NEI BAMBINI DOWN 82
Totale 11.406
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Categoria #
all - tutte 65.380
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 65.380
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
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
2025/202610.021 620 921 1.553 581 1.498 1.692 1.010 335 551 497 312 451
2026/2027232 232 0 0 0 0 0 0 0 0 0 0 0
Totale 19.714