IRIS
COVIELLO, DOMENICO
 Distribuzione geografica
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Continente #
EU - Europa 9.276
AS - Asia 946
NA - Nord America 474
SA - Sud America 80
AF - Africa 16
Continente sconosciuto - Info sul continente non disponibili 1
Totale 10.793
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Nazione #
IT - Italia 9.130
US - Stati Uniti d'America 438
SG - Singapore 410
CN - Cina 246
VN - Vietnam 167
FR - Francia 66
BR - Brasile 49
HK - Hong Kong 43
BD - Bangladesh 27
DE - Germania 22
CA - Canada 15
AR - Argentina 14
FI - Finlandia 14
GB - Regno Unito 11
IQ - Iraq 9
CH - Svizzera 7
MX - Messico 7
NL - Olanda 7
EC - Ecuador 6
IN - India 6
JM - Giamaica 6
TH - Thailandia 6
CL - Cile 5
IE - Irlanda 4
JP - Giappone 4
PK - Pakistan 4
RU - Federazione Russa 4
AL - Albania 3
EG - Egitto 3
ID - Indonesia 3
MA - Marocco 3
PH - Filippine 3
SA - Arabia Saudita 3
UZ - Uzbekistan 3
ZA - Sudafrica 3
CO - Colombia 2
GT - Guatemala 2
JO - Giordania 2
KE - Kenya 2
TR - Turchia 2
VE - Venezuela 2
AZ - Azerbaigian 1
BO - Bolivia 1
BY - Bielorussia 1
BZ - Belize 1
CM - Camerun 1
CR - Costa Rica 1
CY - Cipro 1
DO - Repubblica Dominicana 1
DZ - Algeria 1
EE - Estonia 1
ET - Etiopia 1
HN - Honduras 1
HU - Ungheria 1
IR - Iran 1
KR - Corea 1
LB - Libano 1
MD - Moldavia 1
MM - Myanmar 1
NA - Namibia 1
NG - Nigeria 1
NI - Nicaragua 1
NP - Nepal 1
PL - Polonia 1
QA - Qatar 1
SE - Svezia 1
SK - Slovacchia (Repubblica Slovacca) 1
TT - Trinidad e Tobago 1
UA - Ucraina 1
UY - Uruguay 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 10.793
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Città #
Genova 5.460
Genoa 2.158
Rapallo 822
Vado Ligure 591
Singapore 208
San Jose 187
Lauterbourg 64
Ho Chi Minh City 53
Hong Kong 43
Hanoi 40
Beijing 39
Ashburn 32
Milan 28
New York 23
Frankfurt am Main 18
Council Bluffs 17
Helsinki 14
Santa Clara 11
Chicago 10
Bordighera 9
Los Angeles 9
Valenza 8
Tianjin 7
Baghdad 6
Biên Hòa 6
Mexico City 6
Montreal 6
Zurich 6
Orem 5
São Paulo 5
Amsterdam 4
Buffalo 4
City of London 4
Correggio 4
Da Nang 4
Kingston 4
Rome 4
Tokyo 4
Bangkok 3
Cairo 3
Dallas 3
Dhaka 3
Dublin 3
Haiphong 3
Hải Dương 3
Ninh Bình 3
Santiago 3
Seattle 3
Toronto 3
Alessandria 2
Atlanta 2
Buon Ma Thuot 2
Casablanca 2
Curitiba 2
Des Moines 2
Falconara Marittima 2
Guangzhou 2
Guayaquil 2
Jakarta 2
Johannesburg 2
London 2
Mandeville 2
Nairobi 2
Palermo 2
Phủ Lý 2
Poplar 2
Potenza 2
Queens 2
Quito 2
Quảng Ngãi 2
Quận Chín 2
Rovereto 2
Salem 2
San Francisco 2
Tashkent 2
Turin 2
Uberaba 2
Venice 2
Washington 2
Acalanes Ridge 1
Addis Ababa 1
Alexandria 1
Amman 1
Araçatuba 1
Arujá 1
Athens 1
Atlantic Beach 1
Aurora 1
Azul 1
Azzano San Paolo 1
Baku 1
Baltimore 1
Basingstoke 1
Bath 1
Belvidere 1
Betim 1
Blida 1
Blooming Grove 1
Bologna 1
Bowie 1
Totale 10.037
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Nome #
Analisi di espressione dei geni GNAQ e GNA11 frequentemente mutati nel melanoma uveale Analisi di espressione dei geni GNAQ e GNA11 frequentemente mutati nel melanoma uveale. 251
The human amniotic fluid stem cell secretome effectively counteracts doxorubicin-induced cardiotoxicity 219
A humanized system to expand in vitro amniotic fluid-derived stem cells intended for clinical application 214
19q13 microdeletion syndrome: Further refining the critical region 210
Reverse-transcriptase polymerase chain reaction of the maspin gene in the detection of bone marrow breast carcinoma cell contamination. 202
First Characterization of Human Amniotic Fluid Stem Cell Extracellular Vesicles as a Powerful Paracrine Tool Endowed with Regenerative Potential 198
Secondary Somatic Mutations in G-Protein-Related Pathways and Mutation Signatures in Uveal Melanoma 198
Analysis of the Expression and Single-Nucleotide Variant Frequencies of the Butyrophilin-like 2 Gene in Patients With Uveal Melanoma 195
Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients 188
Borderline sweat test: Utility and limits of genetic analysis for the diagnosis of cystic fibrosis 186
An MBL2 haplotype and ABCB4 variants modulate the risk of liver disease in cystic fibrosis patients: a multicentre study. 180
Human chorionic villus mesenchymal stromal cells reveal strong endothelial conversion properties. 178
Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy 175
alpha-Synuclein multiplication analysis in Italian familial Parkinson disease 170
Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases 169
Heterozygous mutations of growth hormone receptor gene in children with idiopathic short stature. 164
Clinical predictivity of genetic tests for thromboembolism. 162
An assessment of written patient information provided at the genetic clinic and relating to genetic testing in seven European countries 162
Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunction 162
Clinical Significance of Rare Copy Number Variations in Epilepsy: A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization. 161
How many mutations does it take to make a uveal melanoma? 161
A new de novo missense mutation in connexin 26 in a sporadic case of nonsyndromic deafness 160
Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3) 159
Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance. 158
Parkin analysis in early onset Parkinson's disease 156
Patenting and licensing in genetic testing: recommendations of the European Society of Human Genetics. 152
A novel donor splice site characterized by CFTR mRNA analysis induces a new pseudo-exon in CF patients. 150
Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations. 149
R990G polymorphism of calcium-sensing receptor does produce a gain-of-function and predispose to primary hypercalciuria 148
Banking together. A unified model of informed consent for biobanking. 144
De novo balanced chromosome rearrangements in prenatal diagnosis 143
MICRORNA EXPRESSION PROFILES IN HIGH-GRADE PROSTATIC INTRAEPITHELIAL NEOPLASIA (HGPIN): RE-DEFINING THE PROSTATE CANCER PRECURSOR LESION ACCORDING TO THE GENETIC SIGNATURE 143
Phorbol diester 12-O-tetradecanoylphorbol 13-acetate (TPA) up-regulates the expression of estrogen receptors in human THP-1 leukemia cells. 142
GJB2 and MTRNR1 contributions in children with hearing impairment from Northern Cameroon. 142
Mutational screening and zebrafish functional analysis of GIGYF2 as a Parkinson-disease gene 141
Mutation frequencies of GNAQ, GNA11, BAP1, SF3B1, EIF1AX and TERT in uveal melanoma: detection of an activating mutation in theTERT gene promoter in a single case of uveal melanoma. 141
Medically assisted reproduction and ethical challenges. 141
Comprehensive profiling of secretome formulations from fetal-and perinatal human amniotic fluid stem cells 141
First-trimester prenatal screening for the common 35delG GJB2 mutation causing prelingual deafness. 138
The human amniotic fluid stem cell secretome as new paracrine source to unlock endogenous cardiac regeneration 138
Detection of a novel dystrophin gene mutation through carrier analysis performed during prenatal diagnosis in a case with intragenic recombination. 137
Analisi di varianti genetiche del gene Butyrophilin-like 2 (BTNL2), un membro della famiglia B7 di immunomodulatori nel melanoma della coroide. 137
The L467F-F508del Complex Allele Hampers Pharmacological Rescue of Mutant CFTR by Elexacaftor/Tezacaftor/Ivacaftor in Cystic Fibrosis Patients: The Value of the Ex Vivo Nasal Epithelial Model to Address Non-Responders to CFTR-Modulating Drugs 136
Genetic testing and counselling in Europe: health professionals current educational provision, needs assessment and potential strategies for the future 131
The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues 131
Maternally inherited cardiomyopathy: clinical and molecular characterization of a large kindred harboring the A4300G point mutation in mitochondrial deoxyribonucleic acid. 130
The Genoa experience of prenatal diagnosis in NF1 129
A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss. 128
Simultaneous mutations in the CLCNKB and SLC12A3 genes in two siblings with phenotypic heterogeneity in classic Bartter syndrome 127
1p31.1 microdeletion including only NEGR1 gene in two patients. 127
Molecular and clinical features associated with CFTR gene rearrangements in Italian population: identification of a new duplication and recurrent deletions 125
Genotype/phenotype correlations of males affected by Simpson-Golabi-Behmel syndrome with GPC3 gene mutations: patient report and review of the literature. 123
The regenerative potential of the amniotic fluid stem cell microvesicles 123
GNA11 mutations are associated with increased metastatic risk of uveal melanoma in two independent datasets with information on mutations and gene expression 123
EuroGentest patient information leaflets: a free resource available in over 20 languages 122
In uveal melanoma Gα-protein GNA11 mutations convey a shorter disease-specific survival and are more strongly associated with loss of BAP1 and chromosomal alterations than Gα-protein GNAQ mutations 121
Protection against chemotherapy cardiotoxicity by the human amniotic fluid stem cell secretome: a new tool for future paracrine therapy 120
Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe 119
Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome. 119
Use of parthenogenetic activation of human oocytes as an experimental model for evaluation of polar body based PGD assay performance. 116
Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: cooperative study of 19 Italian laboratories 112
Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome. 110
A new splicing site mutation of the ABCB4 gene in intrahepatic cholestasis of pregnancy with raised serum gamma-GT 110
Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome 109
Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss 108
Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients [corrected]. 108
INDUCED PLURIPOTENT STEM CELL FACILITY: PRODUZIONE DI CELLULE STAMINALI ADULTE PER STUDI FUNZIONALI PER LA RICERCA DI NUOVI PRINCIPI TERAPEUTICI 105
Provision of genetic services in Europe: current practices and issues. 96
The regenerative potential of the amniotic fluid stem cells secretome 95
Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up. 93
Interoperability Standards for Data Sharing as a Basis to Fill in a Tailored EHR for Undiagnosed Rare Diseases 90
Presence of estrogen receptors in human myeloid monocytic cells (THP-1 cell line). 88
Establishment and characterization of 4 new human pancreatic cancer cell lines: evidences of different tumor phenotypes 78
Chromosomal Deletion Involving ANKRD26 Leads to Expression of a Fusion Protein Responsible for ANKRD26-Related Thrombocytopenia 68
Opinion about genetic information, prenatal diagnosis and pregnancy termination; Analysis in a sample of Italian women 66
From FAIR4Health Project to 1+MG Initiative: A Spain - Italy Collaboration 58
Multidisciplinary study of sudden unexpected infant death in Liguria (Italy): A nine-year report 57
Generation of induced pluripotent stem cell lines from a patient with Sotos syndrome carrying 5q35 microdeletion 56
Analytical validity of genetic tests for thromboembolism 47
Neonatal death of siblings with Uhl's disease and KCNH2 mutation - A rare association 4
Totale 10.873
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Categoria #
all - tutte 34.582
article - articoli 32.204
book - libri 0
conference - conferenze 1.692
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 686
Totale 69.164
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202130 0 0 0 0 0 0 0 0 0 0 0 30
2021/2022978 27 33 31 184 36 57 62 233 26 87 87 115
2022/20231.005 107 77 17 105 150 173 5 80 157 3 115 16
2023/2024503 25 67 13 58 43 88 38 24 27 18 22 80
2024/20251.406 49 108 32 114 193 135 106 230 35 64 172 168
2025/20262.438 326 91 124 202 363 214 434 120 174 227 122 41
Totale 10.873