IRIS
ROMANO, CORRADO
 Distribuzione geografica
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Continente #
NA - Nord America 4.428
EU - Europa 1.945
AS - Asia 1.634
SA - Sud America 254
AF - Africa 168
Continente sconosciuto - Info sul continente non disponibili 2
OC - Oceania 1
Totale 8.432
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Nazione #
US - Stati Uniti d'America 4.298
SG - Singapore 1.115
IT - Italia 761
IE - Irlanda 499
CN - Cina 412
UA - Ucraina 344
BR - Brasile 246
CA - Canada 123
CI - Costa d'Avorio 114
RU - Federazione Russa 87
DE - Germania 80
SE - Svezia 34
VN - Vietnam 32
FI - Finlandia 30
NG - Nigeria 30
FR - Francia 24
GB - Regno Unito 20
IN - India 17
AT - Austria 16
NL - Olanda 15
SN - Senegal 14
HK - Hong Kong 10
UZ - Uzbekistan 9
GR - Grecia 8
CH - Svizzera 7
PL - Polonia 6
MX - Messico 5
TR - Turchia 5
AE - Emirati Arabi Uniti 4
BD - Bangladesh 4
DK - Danimarca 4
IQ - Iraq 4
JP - Giappone 4
AR - Argentina 3
EC - Ecuador 3
IR - Iran 3
MA - Marocco 3
ZA - Sudafrica 3
BE - Belgio 2
BG - Bulgaria 2
EU - Europa 2
JO - Giordania 2
MO - Macao, regione amministrativa speciale della Cina 2
PK - Pakistan 2
TN - Tunisia 2
VE - Venezuela 2
AL - Albania 1
AU - Australia 1
AZ - Azerbaigian 1
BN - Brunei Darussalam 1
HR - Croazia 1
JM - Giamaica 1
KE - Kenya 1
KG - Kirghizistan 1
KH - Cambogia 1
LA - Repubblica Popolare Democratica del Laos 1
LB - Libano 1
LT - Lituania 1
MD - Moldavia 1
ML - Mali 1
OM - Oman 1
PA - Panama 1
PS - Palestinian Territory 1
PT - Portogallo 1
SA - Arabia Saudita 1
SK - Slovacchia (Repubblica Slovacca) 1
Totale 8.432
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Città #
Santa Clara 1.137
Singapore 687
Chandler 542
Dublin 499
Jacksonville 386
Boardman 282
Houston 217
Chicago 202
Civitanova Marche 199
Lawrence 134
Cambridge 133
Catania 127
Abidjan 114
Andover 102
Nanjing 98
Toronto 93
Ashburn 85
Des Moines 59
Nanchang 47
San Mateo 42
Wilmington 35
Hebei 32
Abuja 30
Bremen 30
Dong Ket 30
Shenyang 29
Ottawa 27
Changsha 26
Milan 24
Saint Petersburg 24
Council Bluffs 23
Falls Church 23
Rome 23
Tianjin 21
Munich 18
Vercelli 18
Helsinki 16
Dakar 14
Jiaxing 14
Lappeenranta 14
Los Angeles 14
Seattle 13
Dearborn 11
Ningbo 11
Norwalk 10
Palermo 10
São Paulo 10
Messina 9
Washington 9
Aci Catena 8
Beijing 8
Kunming 8
Nocera Inferiore 8
Vienna 8
Grafing 7
Hong Kong 7
Mascalucia 7
Napoli 7
Rio de Janeiro 7
Ann Arbor 6
Belo Horizonte 6
Jinan 6
Moscow 6
Pune 6
Troina 6
Augusta 5
Aversa 5
Bari 5
Brasília 5
Fairfield 5
Livorno 5
Mazzarino 5
Porto Alegre 5
San Francisco 5
Springfield 5
Amsterdam 4
Bologna 4
Den Haag 4
Fort Worth 4
Jundiaí 4
Liberty Lake 4
New York 4
Pozzallo 4
Redwood City 4
Shanghai 4
Taizhou 4
Tokyo 4
Trieste 4
Turin 4
Ardabil 3
Benevento 3
Bronte 3
Caraguatatuba 3
Caxias do Sul 3
Curitiba 3
Duque de Caxias 3
Florence 3
Fortaleza 3
Hangzhou 3
Hortolândia 3
Totale 6.003
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Nome #
New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome. 172
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants 152
ARTROGRIPOSI MULTIPLA CONGENITA 144
ANOMALIE CRANIO -FACCIALI, SINDATTILIA E RITARDO MENTALE MEDIO IN UNA PAZIENTE CON TRASLOCAZIONE DE NOVO APPARENTEMENTE BILANCIATA T(8;14)(Q13;Q13) 130
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 120
Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder 101
Pericentrin expression in Down's syndrome 98
1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features 95
Analisi globale dell'espressione genica e patogenesi molecolare del ritardo mentale 84
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism 79
6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: A report of five cases 79
Seroepidemiological Survey on the Impact of Smoking on SARS-CoV-2 Infection and COVID-19 Outcomes: Protocol for the Troina Study 78
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID 76
6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies. 75
Next generation sequencing expression profiling of mitochondrial subunits in men with klinefelter syndrome 75
12q12 deletion: A new patient contributing to genotype-phenotype correlation 74
Evidence for long noncoding RNA GAS5 up-regulationin patients with Klinefelter syndrome 71
Cerebellar degeneration-related protein 1 expression in fibroblasts of patients affected by Down syndrome. 70
Nail aplasia, microcephaly, severe mental retardation and MRI abnormalities: report of two unrelated cases 69
Narrowing the candidate region for congenital diaphragmatic hernia in chromosome 15q26: Contradictory results 69
Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder 69
An inflammatory and trophic disconnect biomarker profile revealed in Down syndrome plasma: relation to cognitive decline and longitudinal evaluation 69
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. 69
Expression of LDOC1 mRNA in leucocytes of patients with Down syndrome 68
A new MRXS locus maps to the X chromosome pericentromeric region: a new syndrome or narrow definition of Sutherland-Haan genetic locus? 68
SPAG5 mRNA is over-expressed in peripheral blood leukocytes of patients with Down's syndrome and cryptorchidism. 68
A Dermatoglyphic study of a group of Sicilian children with Fra-X syndrome 68
Recurrent duplications of 17q12 associated with variable phenotypes 68
Seizures in patients with trisomy 21 67
A peculiar VNTR in the cystathionine ß-synthase gene is a ricsk factor for Down Syndrome 67
Familial 1.1 Mb deletion in chromosome Xq22.1 associated with mental retardation and behavioural disorders in female patients 66
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes 66
MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability. 65
Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome 65
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant 65
The effect of laboratory-verified smoking on SARS-CoV-2 infection: results from the Troina sero-epidemiological survey 65
12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature 65
Trait - driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes 63
Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions 63
A new 6-bp SOX-3 polyalanine tract deletion does not segregate with mental retardation 63
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy 63
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures 63
KIF21A mRNA over-expression in patients with Down syndrome 62
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay 61
Schizophrenia in a patient with subtelomeric duplication of chromosome 22q 60
An unusual presentation of Becker Nevus 59
A de novo 8q22.2-24.3 duplication in a patient with mild phenotype 59
Population−based sero−epidemiological study protocol for the impact of smoking on SARS-CoV-2 infection and COVID-19 outcomes − The Troina study 59
The molecular landscape of ASPM mutations in primary microcephaly 58
GENE EXPRESSION PROFILE IN THE X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 58
Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes 58
Cryptic deletions are a common finding in "balanced'' reciprocal and complex chromosome rearrangements: A study of 59 patients 58
RFLP analysis in 5 Sicilian families with the fragile X syndrome 57
Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation 57
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome 57
Brain dysfunction and the immune system: lymphocyte's beta-adrenergic receptor in Down syndrome. 57
Inserto monografico: Le malattie genetiche oggi. L’esempio della sindrome di Prader Willi. 57
Prenatal diagnosis of ATR-X syndrome in a fetus with a new G > T splicing mutation in the XNP/ATR-X gene 57
The Italian Pilot project on the NF Registry 56
Identification of novel mutations in patients with Coffin-Lowry syndrome by a denaturing HPLC-based assay 55
Psychopathologic disorder in Prader-Willi syndrome 55
EXPRESSION PROFILING IN A SEVERE FORM OF X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 54
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform 54
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome 54
SOX13 gene down-regulation in peripheral blood mononuclear cells of patients with Klinefelter syndrome 54
Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome 53
GENE EXPRESSION PROFILE IN THE X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 53
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. 53
Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis 52
Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes 51
mRNA expression profiling of mitochondrial subunits in subjects with Parkinson’s disease 51
Low-Count Fragile-X Subjects in Fragile-X Positive Pedigrees: A Clinical and genetic Study of Two Families 50
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype 50
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes 49
FREQUENZA DELLE CONVULSIONI FEBBRILI NEI BAMBINI DOWN 49
Gene expression profiling and qRT-PCR expression of RRP1B, PCNT, KIF21A and ADRB2 in leucocytes of Down's syndrome subjects 49
A study of gene expression by RNA-seq in patients with prostate cancer and in patients with Parkinson disease: an example of inverse comorbidity 49
Balanced complex rearrangements: how many are really balanced? 48
The pilot project of the Italian Neurofibromatosis Register [Il progetto pilota di Registro Italiano delle Neurofibromatosi] 48
Denaturing HPLC-based assay for detection of ATRX gene mutations 47
How microsatellite analysis can be exploited for subtelomeric chromosomal rearrangement analysis in mental retardation 47
CCR3 gene overexpression in patients with Down syndrome 46
Mitochondrial DNA involvement in patients with autism spectrum disorders and intellectual disability 45
CASP3 protein expression by flow cytometry in Down’s syndrome subjects 45
RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome 44
SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Down's syndrome subjects with undescended testes 44
The fragile X in Sicily: an epidemiological survey 44
Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development 44
Role of long non-coding RNAs in Down syndrome patients: a transcriptome analysis study 43
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome 43
EXPRESSION PROFILING IN A SEVERE FORM OF X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME (ATR-X) 43
FREQUENZA DELLE CONVULSIONI NEI BAMBINI DOWN 43
High occurrence of Brachydactyly-Mental Retardation syndrome among mentally retarded subjects in Italy 43
The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes. 43
Reliability of intradermal vaccination against HBV for accelerated prophylaxis 42
Fenotipi dismorfici e probabili varianti polimorfiche subtelomeriche in una popolazione di 500 soggetti con ritardo mentale 42
8p23.2-pter microdeletions: Seven new cases narrowing the candidate region and review of the literature 42
Three new patients with dup(17)(p11.2p11.2) without autism 41
SPECIFIC CHANGES IN GENE EXPRESSION IN THE X-LINKED ALPHA THALASSEMIA MENTAL RETARDATION SYNDROME 40
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes 39
Totale 6.295
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Categoria #
all - tutte 35.215
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 35.215
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202096 0 0 0 0 0 0 0 0 0 0 57 39
2020/2021594 8 45 79 7 165 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
2024/20253.685 124 589 365 278 1.036 409 76 128 263 408 9 0
Totale 8.715