IRIS
COVIELLO, DOMENICO
 Distribuzione geografica
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Continente #
EU - Europa 7.521
Totale 7.521
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Nazione #
IT - Italia 7.521
Totale 7.521
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Città #
Genova 5.491
Rapallo 876
Genoa 752
Vado Ligure 392
Bordighera 10
Totale 7.521
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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. 182
Reverse-transcriptase polymerase chain reaction of the maspin gene in the detection of bone marrow breast carcinoma cell contamination. 167
The human amniotic fluid stem cell secretome effectively counteracts doxorubicin-induced cardiotoxicity 160
A humanized system to expand in vitro amniotic fluid-derived stem cells intended for clinical application 149
19q13 microdeletion syndrome: Further refining the critical region 148
Human chorionic villus mesenchymal stromal cells reveal strong endothelial conversion properties. 144
Ten novel mutations in the human neurofibromatosis type 1 (NF1) gene in Italian patients 141
Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3) 136
An MBL2 haplotype and ABCB4 variants modulate the risk of liver disease in cystic fibrosis patients: a multicentre study. 136
Borderline sweat test: Utility and limits of genetic analysis for the diagnosis of cystic fibrosis 135
Heterozygous mutations of growth hormone receptor gene in children with idiopathic short stature. 133
First Characterization of Human Amniotic Fluid Stem Cell Extracellular Vesicles as a Powerful Paracrine Tool Endowed with Regenerative Potential 133
Analysis of the Expression and Single-Nucleotide Variant Frequencies of the Butyrophilin-like 2 Gene in Patients With Uveal Melanoma 128
Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy 128
Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance. 128
Patenting and licensing in genetic testing: recommendations of the European Society of Human Genetics. 127
alpha-Synuclein multiplication analysis in Italian familial Parkinson disease 125
De novo balanced chromosome rearrangements in prenatal diagnosis 123
GJB2 and MTRNR1 contributions in children with hearing impairment from Northern Cameroon. 121
Medically assisted reproduction and ethical challenges. 120
Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases 120
Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunction 118
An assessment of written patient information provided at the genetic clinic and relating to genetic testing in seven European countries 117
Phorbol diester 12-O-tetradecanoylphorbol 13-acetate (TPA) up-regulates the expression of estrogen receptors in human THP-1 leukemia cells. 116
Clinical Significance of Rare Copy Number Variations in Epilepsy: A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization. 116
A new de novo missense mutation in connexin 26 in a sporadic case of nonsyndromic deafness 115
R990G polymorphism of calcium-sensing receptor does produce a gain-of-function and predispose to primary hypercalciuria 114
Secondary Somatic Mutations in G-Protein-Related Pathways and Mutation Signatures in Uveal Melanoma 114
First-trimester prenatal screening for the common 35delG GJB2 mutation causing prelingual deafness. 113
Maternally inherited cardiomyopathy: clinical and molecular characterization of a large kindred harboring the A4300G point mutation in mitochondrial deoxyribonucleic acid. 112
Mutational screening and zebrafish functional analysis of GIGYF2 as a Parkinson-disease gene 111
A novel donor splice site characterized by CFTR mRNA analysis induces a new pseudo-exon in CF patients. 110
The Genoa experience of prenatal diagnosis in NF1 109
Parkin analysis in early onset Parkinson's disease 108
Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations. 108
Molecular and clinical features associated with CFTR gene rearrangements in Italian population: identification of a new duplication and recurrent deletions 106
Clinical predictivity of genetic tests for thromboembolism. 105
Genetic testing and counselling in Europe: health professionals current educational provision, needs assessment and potential strategies for the future 105
The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues 105
Genotype/phenotype correlations of males affected by Simpson-Golabi-Behmel syndrome with GPC3 gene mutations: patient report and review of the literature. 104
Banking together. A unified model of informed consent for biobanking. 103
Detection of a novel dystrophin gene mutation through carrier analysis performed during prenatal diagnosis in a case with intragenic recombination. 101
EuroGentest patient information leaflets: a free resource available in over 20 languages 98
Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe 97
The human amniotic fluid stem cell secretome as new paracrine source to unlock endogenous cardiac regeneration 96
Simultaneous mutations in the CLCNKB and SLC12A3 genes in two siblings with phenotypic heterogeneity in classic Bartter syndrome 95
MICRORNA EXPRESSION PROFILES IN HIGH-GRADE PROSTATIC INTRAEPITHELIAL NEOPLASIA (HGPIN): RE-DEFINING THE PROSTATE CANCER PRECURSOR LESION ACCORDING TO THE GENETIC SIGNATURE 94
A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss. 93
Use of parthenogenetic activation of human oocytes as an experimental model for evaluation of polar body based PGD assay performance. 91
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. 86
Neurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients [corrected]. 82
Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: cooperative study of 19 Italian laboratories 80
How many mutations does it take to make a uveal melanoma? 79
Provision of genetic services in Europe: current practices and issues. 77
Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome. 76
Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up. 75
Analisi di varianti genetiche del gene Butyrophilin-like 2 (BTNL2), un membro della famiglia B7 di immunomodulatori nel melanoma della coroide. 74
The regenerative potential of the amniotic fluid stem cell microvesicles 70
GNA11 mutations are associated with increased metastatic risk of uveal melanoma in two independent datasets with information on mutations and gene expression 67
Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss 66
Comprehensive profiling of secretome formulations from fetal-and perinatal human amniotic fluid stem cells 66
Presence of estrogen receptors in human myeloid monocytic cells (THP-1 cell line). 65
A new splicing site mutation of the ABCB4 gene in intrahepatic cholestasis of pregnancy with raised serum gamma-GT 65
Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome. 63
INDUCED PLURIPOTENT STEM CELL FACILITY: PRODUZIONE DI CELLULE STAMINALI ADULTE PER STUDI FUNZIONALI PER LA RICERCA DI NUOVI PRINCIPI TERAPEUTICI 57
Establishment and characterization of 4 new human pancreatic cancer cell lines: evidences of different tumor phenotypes 57
Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations 53
The human fetal and adult stem cell secretome can exert cardioprotective paracrine effects against cardiotoxicity and oxidative stress from cancer treatment 52
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 51
1p31.1 microdeletion including only NEGR1 gene in two patients. 50
Protection against chemotherapy cardiotoxicity by the human amniotic fluid stem cell secretome: a new tool for future paracrine therapy 48
The regenerative potential of the amniotic fluid stem cells secretome 45
Interstitial 2q24.2q24.3 Microdeletion: Two New Cases with Similar Clinical Features with the Exception of Profound Deafness 39
Interoperability Standards for Data Sharing as a Basis to Fill in a Tailored EHR for Undiagnosed Rare Diseases 35
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 32
Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome 27
Opinion about genetic information, prenatal diagnosis and pregnancy termination; Analysis in a sample of Italian women 25
Single-nucleotide polymorphisms in 3'-untranslated region inducible costimulator gene and the important roles of miRNA in alopecia areata 23
Expanding the phenotype associated with interstitial 6p25.1p24.3 microdeletion: a new case and review of the literature 14
Multidisciplinary study of sudden unexpected infant death in Liguria (Italy): A nine-year report 13
From FAIR4Health Project to 1+MG Initiative: A Spain - Italy Collaboration 11
Generation of induced pluripotent stem cell lines from a patient with Sotos syndrome carrying 5q35 microdeletion 10
Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome 8
Totale 7.599
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Categoria #
all - tutte 23.965
article - articoli 22.556
book - libri 0
conference - conferenze 1.032
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 377
Totale 47.930
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.634 0 0 0 0 183 190 356 131 171 323 189 91
2020/2021456 26 62 27 46 36 21 25 52 37 63 31 30
2021/20221.003 29 33 36 185 37 58 62 240 26 89 91 117
2022/20231.065 109 79 18 108 165 179 5 93 165 5 123 16
2023/2024558 25 72 21 66 47 97 47 26 28 21 22 86
2024/2025422 57 121 35 126 83 0 0 0 0 0 0 0
Totale 7.599