IRIS
ROMANO, CORRADO
 Distribuzione geografica
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Continente #
NA - Nord America 7.736
AS - Asia 5.247
EU - Europa 4.038
SA - Sud America 904
AF - Africa 511
OC - Oceania 6
Continente sconosciuto - Info sul continente non disponibili 3
Totale 18.445
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Nazione #
US - Stati Uniti d'America 7.461
SG - Singapore 2.501
CN - Cina 1.496
RU - Federazione Russa 1.489
IT - Italia 933
BR - Brasile 766
IE - Irlanda 501
KR - Corea 380
VN - Vietnam 371
UA - Ucraina 354
FR - Francia 244
CI - Costa d'Avorio 204
CA - Canada 183
NG - Nigeria 156
DE - Germania 101
GB - Regno Unito 98
IN - India 87
AR - Argentina 57
SE - Svezia 56
MX - Messico 53
HK - Hong Kong 51
BD - Bangladesh 49
FI - Finlandia 49
NL - Olanda 45
BJ - Benin 40
PL - Polonia 37
IQ - Iraq 36
ID - Indonesia 34
ZA - Sudafrica 33
AT - Austria 29
ES - Italia 25
TR - Turchia 25
JP - Giappone 24
EC - Ecuador 23
PK - Pakistan 22
IR - Iran 20
UZ - Uzbekistan 20
MY - Malesia 19
VE - Venezuela 18
KE - Kenya 17
SN - Senegal 17
TH - Thailandia 16
AE - Emirati Arabi Uniti 15
SA - Arabia Saudita 15
MA - Marocco 14
CH - Svizzera 13
PH - Filippine 13
GR - Grecia 10
JM - Giamaica 10
JO - Giordania 10
UY - Uruguay 10
LT - Lituania 9
CL - Cile 8
AL - Albania 7
CO - Colombia 7
EG - Egitto 7
NP - Nepal 7
PE - Perù 7
DO - Repubblica Dominicana 6
IL - Israele 6
OM - Oman 6
AU - Australia 5
BE - Belgio 5
DK - Danimarca 5
DZ - Algeria 5
PT - Portogallo 5
PY - Paraguay 5
TN - Tunisia 5
CR - Costa Rica 4
GT - Guatemala 4
RO - Romania 4
BF - Burkina Faso 3
BG - Bulgaria 3
KZ - Kazakistan 3
PA - Panama 3
RS - Serbia 3
AZ - Azerbaigian 2
BB - Barbados 2
BW - Botswana 2
BY - Bielorussia 2
CU - Cuba 2
CY - Cipro 2
EU - Europa 2
GE - Georgia 2
HN - Honduras 2
HU - Ungheria 2
LB - Libano 2
ML - Mali 2
MO - Macao, regione amministrativa speciale della Cina 2
SV - El Salvador 2
SY - Repubblica araba siriana 2
TT - Trinidad e Tobago 2
AD - Andorra 1
BA - Bosnia-Erzegovina 1
BH - Bahrain 1
BN - Brunei Darussalam 1
BO - Bolivia 1
BS - Bahamas 1
CM - Camerun 1
CZ - Repubblica Ceca 1
Totale 18.422
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Città #
Singapore 1.496
Dallas 1.398
Santa Clara 1.165
Moscow 604
Hefei 563
Chandler 542
San Jose 538
Dublin 501
Jacksonville 387
Seoul 380
Ashburn 366
Boardman 282
Houston 230
Chicago 211
Abidjan 204
Civitanova Marche 199
Lauterbourg 198
Catania 177
Beijing 172
Los Angeles 143
Lawrence 134
Cambridge 133
Ho Chi Minh City 124
Toronto 108
Andover 102
Nanjing 98
Abuja 80
Hanoi 77
Buffalo 67
São Paulo 67
Lagos 64
New York 64
Des Moines 59
Council Bluffs 57
Nanchang 48
Hong Kong 44
San Mateo 42
Cotonou 40
Rome 40
Milan 35
Wilmington 35
Montreal 33
Hebei 32
Warsaw 31
Amsterdam 30
Bremen 30
Dong Ket 30
Shenyang 29
Ottawa 28
Palermo 28
Brooklyn 26
Changsha 26
Denver 24
Rio de Janeiro 24
Saint Petersburg 24
Columbus 23
Falls Church 23
Lappeenranta 23
Stockholm 23
Tokyo 23
Helsinki 22
Munich 22
Orem 22
Tianjin 22
San Francisco 21
The Dalles 21
Da Nang 20
Jakarta 20
London 20
Phoenix 20
Belo Horizonte 18
Mexico City 18
Poplar 18
Vercelli 18
Atlanta 17
Dakar 17
Bangkok 16
Chennai 16
Seattle 16
Tehran 16
Johannesburg 15
Baghdad 14
Jiaxing 14
Boston 13
Kochi 13
Brasília 12
Port Harcourt 12
Charlotte 11
Dearborn 11
Dhaka 11
Messina 11
Nairobi 11
Ningbo 11
Porto Alegre 11
Tashkent 11
Vienna 11
Amman 10
Caxias do Sul 10
Fortaleza 10
Kuala Selangor 10
Totale 12.396
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Nome #
New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome. 201
ANOMALIE CRANIO -FACCIALI, SINDATTILIA E RITARDO MENTALE MEDIO IN UNA PAZIENTE CON TRASLOCAZIONE DE NOVO APPARENTEMENTE BILANCIATA T(8;14)(Q13;Q13) 189
ARTROGRIPOSI MULTIPLA CONGENITA 189
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants 184
Analisi globale dell'espressione genica e patogenesi molecolare del ritardo mentale 172
1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features 165
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 161
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism 159
A peculiar VNTR in the cystathionine ß-synthase gene is a ricsk factor for Down Syndrome 158
An inflammatory and trophic disconnect biomarker profile revealed in Down syndrome plasma: relation to cognitive decline and longitudinal evaluation 155
6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: A report of five cases 155
6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies. 148
Seroepidemiological Survey on the Impact of Smoking on SARS-CoV-2 Infection and COVID-19 Outcomes: Protocol for the Troina Study 147
12q12 deletion: A new patient contributing to genotype-phenotype correlation 144
A study of gene expression by RNA-seq in patients with prostate cancer and in patients with Parkinson disease: an example of inverse comorbidity 143
A new MRXS locus maps to the X chromosome pericentromeric region: a new syndrome or narrow definition of Sutherland-Haan genetic locus? 141
Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder 140
Evidence for long noncoding RNA GAS5 up-regulationin patients with Klinefelter syndrome 140
A Dermatoglyphic study of a group of Sicilian children with Fra-X syndrome 139
Trait - driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes 138
A de novo 8q22.2-24.3 duplication in a patient with mild phenotype 138
Pericentrin expression in Down's syndrome 135
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy 135
12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature 130
Next generation sequencing expression profiling of mitochondrial subunits in men with klinefelter syndrome 129
The effect of laboratory-verified smoking on SARS-CoV-2 infection: results from the Troina sero-epidemiological survey 127
A new 6-bp SOX-3 polyalanine tract deletion does not segregate with mental retardation 125
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures 123
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. 122
Cerebellar degeneration-related protein 1 expression in fibroblasts of patients affected by Down syndrome. 120
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features 117
Population−based sero−epidemiological study protocol for the impact of smoking on SARS-CoV-2 infection and COVID-19 outcomes − The Troina study 117
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay 116
3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients 115
Narrowing the candidate region for congenital diaphragmatic hernia in chromosome 15q26: Contradictory results 112
Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome 112
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID 108
mRNA expression profiling of mitochondrial subunits in subjects with Parkinson’s disease 108
SOX13 gene down-regulation in peripheral blood mononuclear cells of patients with Klinefelter syndrome 106
The 9 bp Deletion between the Mitochondrial COII and Lysine tRNA Genes in a Caucasian Population with Cognitive Disorders: An Observational Study 105
Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder 105
An unusual presentation of Becker Nevus 103
Recurrent duplications of 17q12 associated with variable phenotypes 101
The Italian XLMR bank: A clinical and molecular database 100
Role of long non-coding RNAs in Down syndrome patients: a transcriptome analysis study 100
3rd International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism 99
Expression of LDOC1 mRNA in leucocytes of patients with Down syndrome 99
Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions 99
Low TGF-β1 plasma levels are associated with cognitive decline in Down syndrome 97
MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability 97
CCR3 gene overexpression in patients with Down syndrome 97
Unveiling Secondary Mutations in Blended Phenotypes: Dual ERCC4 and OTOA Pathogenic Variants Through WES Analysis 96
Nail aplasia, microcephaly, severe mental retardation and MRI abnormalities: report of two unrelated cases 96
Cryptic deletions are a common finding in "balanced'' reciprocal and complex chromosome rearrangements: A study of 59 patients 96
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes 96
A polymorphism (Rs1042522) in TP53 gene is a risk factor for down syndrome in sicilian mothers 95
Schizophrenia in a patient with subtelomeric duplication of chromosome 22q 94
SPAG5 mRNA is over-expressed in peripheral blood leukocytes of patients with Down's syndrome and cryptorchidism. 94
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant 94
The molecular landscape of ASPM mutations in primary microcephaly 93
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency 93
Familial 1.1 Mb deletion in chromosome Xq22.1 associated with mental retardation and behavioural disorders in female patients 92
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants 91
Seizures in patients with trisomy 21 91
Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes 91
Expansion of the Genotypic and Phenotypic Spectrum of TCTN3-Related Joubert Syndrome 90
KIF21A mRNA over-expression in patients with Down syndrome 90
GENE EXPRESSION PROFILE IN THE X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 90
A further family with epilepsy, dementia and yellow teeth: the Kohlschütter syndrome 89
8p23.2-pter microdeletions: Seven new cases narrowing the candidate region and review of the literature 89
Mitochondrial DNA involvement in patients with autism spectrum disorders and intellectual disability 88
GENE EXPRESSION PROFILE IN THE X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 88
Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis 86
TBC1D24 gene mRNA expression in a boy with early infantile epileptic encephalopathy-16 86
Genetic determinants of folate and vitamin B12 metabolism: A common pathway in neural tube defect and Down syndrome? 85
Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation 85
EXPRESSION PROFILING IN A SEVERE FORM OF X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 85
Prenatal diagnosis of ATR-X syndrome in a fetus with a new G > T splicing mutation in the XNP/ATR-X gene 85
Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome 84
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 84
2nd International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism 83
Is there a relationship between zinc and the peculiar comorbidities of Down syndrome? 83
RFLP analysis in 5 Sicilian families with the fragile X syndrome 83
GPR56 gene down-regulation in patients with Klinefelter Syndrome: A candidate for infertility? 83
Identification of novel mutations in patients with Coffin-Lowry syndrome by a denaturing HPLC-based assay 82
FREQUENZA DELLE CONVULSIONI FEBBRILI NEI BAMBINI DOWN 82
Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes 82
NF-kB1 gene expression in Down syndrome patients 81
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform 81
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome 81
Gene expression profiling and qRT-PCR expression of RRP1B, PCNT, KIF21A and ADRB2 in leucocytes of Down's syndrome subjects 81
The Italian Pilot project on the NF Registry 80
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome 80
Growth hormone subnormality in down syndrome [1] 79
Hypersensitivity to aromatic anticonvulsants: In vivo and In vitro cross-reactivity studies 79
Expanding CEP290 mutational spectrumin ciliopathies 79
Brain dysfunction and the immune system: lymphocyte's beta-adrenergic receptor in Down syndrome. 79
Psychopathologic disorder in Prader-Willi syndrome 79
Facial midline defect in the fetal alcohol syndrome. Embryogenetic considerations in two clinical cases 78
The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes. 78
Totale 10.894
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Categoria #
all - tutte 59.618
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 59.618
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021129 0 0 0 0 0 0 0 0 0 0 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
2025/20269.273 620 921 1.553 581 1.498 1.692 1.010 335 551 497 15 0
Totale 18.734