IRIS
COVIELLO, DOMENICO
 Distribuzione geografica
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Continente #
EU - Europa 9.206
AS - Asia 60
SA - Sud America 25
Totale 9.291
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Nazione #
IT - Italia 9.205
CN - Cina 49
BR - Brasile 21
SG - Singapore 7
VN - Vietnam 4
AR - Argentina 1
CO - Colombia 1
EC - Ecuador 1
RU - Federazione Russa 1
UY - Uruguay 1
Totale 9.291
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Città #
Genova 5.479
Genoa 2.242
Rapallo 851
Vado Ligure 624
Beijing 28
Bordighera 9
Curitiba 2
Ho Chi Minh City 2
Araçatuba 1
Brejo 1
Caieiras 1
Caucaia 1
Caxias 1
Duque de Caxias 1
Erechim 1
Haiphong 1
Hanoi 1
Ipaba 1
Manta 1
Mariquita 1
Mauriti 1
Montevideo 1
Nizhniy Novgorod 1
Nova Esperança 1
Nova Friburgo 1
Ouro Branco 1
Petrolina 1
Rafael Calzada 1
Recife 1
Sapucaia do Sul 1
Singapore 1
São José dos Campos 1
São José dos Pinhais 1
São Paulo 1
Tianjin 1
Torres 1
Totale 9.265
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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. 222
The human amniotic fluid stem cell secretome effectively counteracts doxorubicin-induced cardiotoxicity 195
19q13 microdeletion syndrome: Further refining the critical region 187
Reverse-transcriptase polymerase chain reaction of the maspin gene in the detection of bone marrow breast carcinoma cell contamination. 181
A humanized system to expand in vitro amniotic fluid-derived stem cells intended for clinical application 181
Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients 166
Analysis of the Expression and Single-Nucleotide Variant Frequencies of the Butyrophilin-like 2 Gene in Patients With Uveal Melanoma 166
Borderline sweat test: Utility and limits of genetic analysis for the diagnosis of cystic fibrosis 165
First Characterization of Human Amniotic Fluid Stem Cell Extracellular Vesicles as a Powerful Paracrine Tool Endowed with Regenerative Potential 165
An MBL2 haplotype and ABCB4 variants modulate the risk of liver disease in cystic fibrosis patients: a multicentre study. 158
Human chorionic villus mesenchymal stromal cells reveal strong endothelial conversion properties. 157
alpha-Synuclein multiplication analysis in Italian familial Parkinson disease 154
Secondary Somatic Mutations in G-Protein-Related Pathways and Mutation Signatures in Uveal Melanoma 149
Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3) 148
Heterozygous mutations of growth hormone receptor gene in children with idiopathic short stature. 148
Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance. 146
Parkin analysis in early onset Parkinson's disease 144
Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy 144
Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases 143
Patenting and licensing in genetic testing: recommendations of the European Society of Human Genetics. 141
A new de novo missense mutation in connexin 26 in a sporadic case of nonsyndromic deafness 139
An assessment of written patient information provided at the genetic clinic and relating to genetic testing in seven European countries 138
Clinical Significance of Rare Copy Number Variations in Epilepsy: A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization. 138
Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunction 136
De novo balanced chromosome rearrangements in prenatal diagnosis 133
GJB2 and MTRNR1 contributions in children with hearing impairment from Northern Cameroon. 132
A novel donor splice site characterized by CFTR mRNA analysis induces a new pseudo-exon in CF patients. 131
Medically assisted reproduction and ethical challenges. 130
Banking together. A unified model of informed consent for biobanking. 129
Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations. 129
R990G polymorphism of calcium-sensing receptor does produce a gain-of-function and predispose to primary hypercalciuria 128
Phorbol diester 12-O-tetradecanoylphorbol 13-acetate (TPA) up-regulates the expression of estrogen receptors in human THP-1 leukemia cells. 127
Clinical predictivity of genetic tests for thromboembolism. 127
Mutational screening and zebrafish functional analysis of GIGYF2 as a Parkinson-disease gene 125
First-trimester prenatal screening for the common 35delG GJB2 mutation causing prelingual deafness. 124
Maternally inherited cardiomyopathy: clinical and molecular characterization of a large kindred harboring the A4300G point mutation in mitochondrial deoxyribonucleic acid. 120
The Genoa experience of prenatal diagnosis in NF1 120
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. 119
Detection of a novel dystrophin gene mutation through carrier analysis performed during prenatal diagnosis in a case with intragenic recombination. 118
MICRORNA EXPRESSION PROFILES IN HIGH-GRADE PROSTATIC INTRAEPITHELIAL NEOPLASIA (HGPIN): RE-DEFINING THE PROSTATE CANCER PRECURSOR LESION ACCORDING TO THE GENETIC SIGNATURE 118
The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues 118
The human amniotic fluid stem cell secretome as new paracrine source to unlock endogenous cardiac regeneration 117
How many mutations does it take to make a uveal melanoma? 117
Genetic testing and counselling in Europe: health professionals current educational provision, needs assessment and potential strategies for the future 116
Molecular and clinical features associated with CFTR gene rearrangements in Italian population: identification of a new duplication and recurrent deletions 114
Simultaneous mutations in the CLCNKB and SLC12A3 genes in two siblings with phenotypic heterogeneity in classic Bartter syndrome 111
A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss. 111
Genotype/phenotype correlations of males affected by Simpson-Golabi-Behmel syndrome with GPC3 gene mutations: patient report and review of the literature. 110
Comprehensive profiling of secretome formulations from fetal-and perinatal human amniotic fluid stem cells 109
Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe 108
EuroGentest patient information leaflets: a free resource available in over 20 languages 105
Analisi di varianti genetiche del gene Butyrophilin-like 2 (BTNL2), un membro della famiglia B7 di immunomodulatori nel melanoma della coroide. 105
Use of parthenogenetic activation of human oocytes as an experimental model for evaluation of polar body based PGD assay performance. 102
Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome. 100
Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: cooperative study of 19 Italian laboratories 100
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 100
The regenerative potential of the amniotic fluid stem cell microvesicles 99
Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome. 98
Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients [corrected]. 97
GNA11 mutations are associated with increased metastatic risk of uveal melanoma in two independent datasets with information on mutations and gene expression 95
1p31.1 microdeletion including only NEGR1 gene in two patients. 93
A new splicing site mutation of the ABCB4 gene in intrahepatic cholestasis of pregnancy with raised serum gamma-GT 92
Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss 89
Protection against chemotherapy cardiotoxicity by the human amniotic fluid stem cell secretome: a new tool for future paracrine therapy 88
Provision of genetic services in Europe: current practices and issues. 87
Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations 83
Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up. 82
INDUCED PLURIPOTENT STEM CELL FACILITY: PRODUZIONE DI CELLULE STAMINALI ADULTE PER STUDI FUNZIONALI PER LA RICERCA DI NUOVI PRINCIPI TERAPEUTICI 81
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 79
Presence of estrogen receptors in human myeloid monocytic cells (THP-1 cell line). 77
Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome 76
The regenerative potential of the amniotic fluid stem cells secretome 74
Establishment and characterization of 4 new human pancreatic cancer cell lines: evidences of different tumor phenotypes 66
Interoperability Standards for Data Sharing as a Basis to Fill in a Tailored EHR for Undiagnosed Rare Diseases 58
Interstitial 2q24.2q24.3 Microdeletion: Two New Cases with Similar Clinical Features with the Exception of Profound Deafness 56
Opinion about genetic information, prenatal diagnosis and pregnancy termination; Analysis in a sample of Italian women 47
Expanding the phenotype associated with interstitial 6p25.1p24.3 microdeletion: a new case and review of the literature 40
Multidisciplinary study of sudden unexpected infant death in Liguria (Italy): A nine-year report 36
Generation of induced pluripotent stem cell lines from a patient with Sotos syndrome carrying 5q35 microdeletion 33
From FAIR4Health Project to 1+MG Initiative: A Spain - Italy Collaboration 33
Analytical validity of genetic tests for thromboembolism 31
Chromosomal Deletion Involving ANKRD26 Leads to Expression of a Fusion Protein Responsible for ANKRD26-Related Thrombocytopenia 15
Totale 9.369
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Categoria #
all - tutte 31.430
article - articoli 29.391
book - libri 0
conference - conferenze 1.479
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 560
Totale 62.860
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021295 0 0 0 0 36 21 25 52 37 63 31 30
2021/2022990 29 33 31 185 36 58 62 237 26 89 88 116
2022/20231.037 108 77 17 107 158 176 5 88 161 5 119 16
2023/2024536 25 68 21 63 45 92 44 25 27 20 22 84
2024/20251.472 53 117 34 119 202 141 111 239 36 68 181 171
2025/2026783 344 93 129 205 12 0 0 0 0 0 0 0
Totale 9.369