IRIS
ROMANO, CORRADO
 Distribuzione geografica
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Continente #
NA - Nord America 6.433
AS - Asia 3.631
EU - Europa 2.134
SA - Sud America 726
AF - Africa 284
OC - Oceania 4
Continente sconosciuto - Info sul continente non disponibili 2
Totale 13.214
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Nazione #
US - Stati Uniti d'America 6.235
SG - Singapore 1.660
CN - Cina 1.352
IT - Italia 800
BR - Brasile 655
IE - Irlanda 499
UA - Ucraina 346
KR - Corea 260
CI - Costa d'Avorio 202
CA - Canada 152
VN - Vietnam 137
RU - Federazione Russa 97
DE - Germania 90
GB - Regno Unito 68
IN - India 62
SE - Svezia 49
FI - Finlandia 39
NG - Nigeria 31
AR - Argentina 30
FR - Francia 28
MX - Messico 28
PL - Polonia 26
BD - Bangladesh 23
NL - Olanda 22
AT - Austria 20
IR - Iran 20
JP - Giappone 16
SN - Senegal 16
ZA - Sudafrica 16
IQ - Iraq 14
UZ - Uzbekistan 14
EC - Ecuador 13
TR - Turchia 13
HK - Hong Kong 12
ES - Italia 11
ID - Indonesia 11
VE - Venezuela 9
CH - Svizzera 8
GR - Grecia 8
AE - Emirati Arabi Uniti 7
PK - Pakistan 7
JM - Giamaica 5
LT - Lituania 5
CO - Colombia 4
DK - Danimarca 4
DO - Repubblica Dominicana 4
JO - Giordania 4
PY - Paraguay 4
SA - Arabia Saudita 4
AU - Australia 3
BF - Burkina Faso 3
CL - Cile 3
KE - Kenya 3
MA - Marocco 3
PE - Perù 3
TN - Tunisia 3
UY - Uruguay 3
AL - Albania 2
BB - Barbados 2
BE - Belgio 2
BG - Bulgaria 2
CU - Cuba 2
EG - Egitto 2
EU - Europa 2
IL - Israele 2
MO - Macao, regione amministrativa speciale della Cina 2
NP - Nepal 2
PA - Panama 2
PT - Portogallo 2
TT - Trinidad e Tobago 2
AD - Andorra 1
AZ - Azerbaigian 1
BA - Bosnia-Erzegovina 1
BH - Bahrain 1
BN - Brunei Darussalam 1
BW - Botswana 1
CM - Camerun 1
CZ - Repubblica Ceca 1
DZ - Algeria 1
GY - Guiana 1
HR - Croazia 1
KG - Kirghizistan 1
KH - Cambogia 1
LA - Repubblica Popolare Democratica del Laos 1
LB - Libano 1
MD - Moldavia 1
ML - Mali 1
MW - Malawi 1
OM - Oman 1
PS - Palestinian Territory 1
SK - Slovacchia (Repubblica Slovacca) 1
SR - Suriname 1
SV - El Salvador 1
TV - Tuvalu 1
Totale 13.214
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Città #
Dallas 1.388
Santa Clara 1.147
Singapore 947
Hefei 562
Chandler 542
Dublin 499
Jacksonville 386
Boardman 282
Seoul 260
Houston 223
Chicago 206
Abidjan 202
Civitanova Marche 199
Ashburn 165
Beijing 153
Catania 136
Lawrence 134
Cambridge 133
Andover 102
Toronto 100
Nanjing 98
Los Angeles 77
Des Moines 59
Nanchang 47
São Paulo 47
Ho Chi Minh City 42
San Mateo 42
Wilmington 35
Hebei 32
Abuja 30
Bremen 30
Dong Ket 30
Rome 29
Shenyang 29
Ottawa 27
Changsha 26
New York 25
Milan 24
Saint Petersburg 24
Council Bluffs 23
Falls Church 23
Hanoi 23
Columbus 22
Munich 22
Brooklyn 21
The Dalles 21
Tianjin 21
Warsaw 21
San Francisco 20
Lappeenranta 19
Palermo 19
Rio de Janeiro 18
Vercelli 18
Belo Horizonte 16
Dakar 16
Helsinki 16
Stockholm 16
Tehran 16
Tokyo 16
Buffalo 15
Montreal 15
Seattle 15
Jiaxing 14
Phoenix 14
Kochi 13
London 12
Brasília 11
Chennai 11
Dearborn 11
Mexico City 11
Ningbo 11
Poplar 11
Porto Alegre 11
Denver 10
Messina 10
Norwalk 10
Amsterdam 9
Boston 9
Hong Kong 9
Vienna 9
Washington 9
Aci Catena 8
Atlanta 8
Caxias do Sul 8
Charlotte 8
Dhaka 8
Fortaleza 8
Johannesburg 8
Kunming 8
Mumbai 8
Nocera Inferiore 8
Redondo Beach 8
Augusta 7
Curitiba 7
Grafing 7
Manchester 7
Mascalucia 7
Napoli 7
Nova Iguaçu 7
Pune 7
Totale 9.300
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Nome #
New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome. 186
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants 168
ARTROGRIPOSI MULTIPLA CONGENITA 161
ANOMALIE CRANIO -FACCIALI, SINDATTILIA E RITARDO MENTALE MEDIO IN UNA PAZIENTE CON TRASLOCAZIONE DE NOVO APPARENTEMENTE BILANCIATA T(8;14)(Q13;Q13) 155
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 137
Analisi globale dell'espressione genica e patogenesi molecolare del ritardo mentale 129
1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features 125
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism 120
Pericentrin expression in Down's syndrome 117
A peculiar VNTR in the cystathionine ß-synthase gene is a ricsk factor for Down Syndrome 115
6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: A report of five cases 115
Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder 112
12q12 deletion: A new patient contributing to genotype-phenotype correlation 110
Trait - driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes 108
A study of gene expression by RNA-seq in patients with prostate cancer and in patients with Parkinson disease: an example of inverse comorbidity 107
A new MRXS locus maps to the X chromosome pericentromeric region: a new syndrome or narrow definition of Sutherland-Haan genetic locus? 106
6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies. 103
An inflammatory and trophic disconnect biomarker profile revealed in Down syndrome plasma: relation to cognitive decline and longitudinal evaluation 103
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy 102
Evidence for long noncoding RNA GAS5 up-regulationin patients with Klinefelter syndrome 102
Seroepidemiological Survey on the Impact of Smoking on SARS-CoV-2 Infection and COVID-19 Outcomes: Protocol for the Troina Study 99
Cerebellar degeneration-related protein 1 expression in fibroblasts of patients affected by Down syndrome. 98
A de novo 8q22.2-24.3 duplication in a patient with mild phenotype 96
A Dermatoglyphic study of a group of Sicilian children with Fra-X syndrome 94
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID 94
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. 92
Narrowing the candidate region for congenital diaphragmatic hernia in chromosome 15q26: Contradictory results 91
Next generation sequencing expression profiling of mitochondrial subunits in men with klinefelter syndrome 90
A new 6-bp SOX-3 polyalanine tract deletion does not segregate with mental retardation 89
The effect of laboratory-verified smoking on SARS-CoV-2 infection: results from the Troina sero-epidemiological survey 89
12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature 89
Expression of LDOC1 mRNA in leucocytes of patients with Down syndrome 88
Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome 88
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures 88
Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder 87
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay 86
Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions 85
Nail aplasia, microcephaly, severe mental retardation and MRI abnormalities: report of two unrelated cases 83
Recurrent duplications of 17q12 associated with variable phenotypes 83
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes 83
MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability. 81
An unusual presentation of Becker Nevus 81
Schizophrenia in a patient with subtelomeric duplication of chromosome 22q 80
The molecular landscape of ASPM mutations in primary microcephaly 80
Familial 1.1 Mb deletion in chromosome Xq22.1 associated with mental retardation and behavioural disorders in female patients 79
SPAG5 mRNA is over-expressed in peripheral blood leukocytes of patients with Down's syndrome and cryptorchidism. 79
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant 77
Population−based sero−epidemiological study protocol for the impact of smoking on SARS-CoV-2 infection and COVID-19 outcomes − The Troina study 77
Seizures in patients with trisomy 21 75
Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis 75
Role of long non-coding RNAs in Down syndrome patients: a transcriptome analysis study 74
3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients 74
Cryptic deletions are a common finding in "balanced'' reciprocal and complex chromosome rearrangements: A study of 59 patients 74
mRNA expression profiling of mitochondrial subunits in subjects with Parkinson’s disease 74
Prenatal diagnosis of ATR-X syndrome in a fetus with a new G > T splicing mutation in the XNP/ATR-X gene 73
KIF21A mRNA over-expression in patients with Down syndrome 72
GENE EXPRESSION PROFILE IN THE X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 71
EXPRESSION PROFILING IN A SEVERE FORM OF X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 71
Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes 71
GENE EXPRESSION PROFILE IN THE X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 70
SOX13 gene down-regulation in peripheral blood mononuclear cells of patients with Klinefelter syndrome 69
Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation 68
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features 67
Identification of novel mutations in patients with Coffin-Lowry syndrome by a denaturing HPLC-based assay 67
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome 67
Mitochondrial DNA involvement in patients with autism spectrum disorders and intellectual disability 66
RFLP analysis in 5 Sicilian families with the fragile X syndrome 66
The Italian Pilot project on the NF Registry 66
Psychopathologic disorder in Prader-Willi syndrome 66
Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes 66
Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome 66
The 9 bp Deletion between the Mitochondrial COII and Lysine tRNA Genes in a Caucasian Population with Cognitive Disorders: An Observational Study 65
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome 65
Inserto monografico: Le malattie genetiche oggi. L’esempio della sindrome di Prader Willi. 65
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform 65
CCR3 gene overexpression in patients with Down syndrome 65
FREQUENZA DELLE CONVULSIONI FEBBRILI NEI BAMBINI DOWN 64
Balanced complex rearrangements: how many are really balanced? 64
Brain dysfunction and the immune system: lymphocyte's beta-adrenergic receptor in Down syndrome. 63
Gene expression profiling and qRT-PCR expression of RRP1B, PCNT, KIF21A and ADRB2 in leucocytes of Down's syndrome subjects 63
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency 62
TBC1D24 gene mRNA expression in a boy with early infantile epileptic encephalopathy-16 62
Low TGF-β1 plasma levels are associated with cognitive decline in Down syndrome 61
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. 61
A polymorphism (Rs1042522) in TP53 gene is a risk factor for down syndrome in sicilian mothers 60
Is there a relationship between zinc and the peculiar comorbidities of Down syndrome? 60
CASP3 protein expression by flow cytometry in Down’s syndrome subjects 60
The pilot project of the Italian Neurofibromatosis Register [Il progetto pilota di Registro Italiano delle Neurofibromatosi] 60
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype 60
The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes. 60
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants 59
Three new patients with dup(17)(p11.2p11.2) without autism 59
Expansion of the Genotypic and Phenotypic Spectrum of TCTN3-Related Joubert Syndrome 58
The fragile X in Sicily: an epidemiological survey 58
How microsatellite analysis can be exploited for subtelomeric chromosomal rearrangement analysis in mental retardation 58
Unveiling Secondary Mutations in Blended Phenotypes: Dual ERCC4 and OTOA Pathogenic Variants Through WES Analysis 57
Denaturing HPLC-based assay for detection of ATRX gene mutations 56
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms 56
RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome 55
High occurrence of Brachydactyly-Mental Retardation syndrome among mentally retarded subjects in Italy 55
Totale 8.271
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Categoria #
all - tutte 50.195
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 50.195
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021455 0 0 0 0 165 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
2025/20264.039 620 921 1.553 581 364 0 0 0 0 0 0 0
Totale 13.500