IRIS
DI MARIA, EMILIO
 Distribuzione geografica
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Continente #
EU - Europa 8.960
Totale 8.960
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Nazione #
IT - Italia 8.960
Totale 8.960
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Città #
Genova 6.617
Genoa 874
Rapallo 828
Vado Ligure 631
Bordighera 10
Totale 8.960
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Nome #
Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia 238
A single nucleotide variant in the FMR1 CGG repeat results in a "pseudodeletion" and is not associated with the fragile X syndrome phenotype 173
A majority of Huntington's disease patients may be treatable by individualized allele-specific RNA interference. 156
Does parkin play a role in the peripheral nervous system? A family report 151
19q13 microdeletion syndrome: Further refining the critical region 151
The -413C>G substitution in the promoter of the FMR1 gene is not associated with the fragile X syndrome phenotype 148
A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci. 147
A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease. 146
A putative regulatory subunit (NR3A) of the NMDA receptor complex as candidate gene for susceptibility to schizophrenia: a case-control study 144
A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect 142
Clinical and genetic study of essential tremor in the Italian population. 141
3q26.33–3q27.2 microdeletion: A new microdeletion syndrome? 134
Discrepancies in reporting the CAG repeat lengths for Huntington's disease 134
Suicidal ideation in a European Huntington's disease population 132
An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP 131
The D355V mutation decreases EGR2 binding to an element within the Cx32 promoter. 130
Possible Influence of a Non-Synonymous Polymorphism Located in the NGF Precursor on Susceptibility to Late-Onset Alzheimer's Disease and Mild Cognitive Impairment 130
The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients. 126
Arthropathy, Osteolysis, Keloids, Relapsing Conjunctival Pannus and Gingival Overgrowth: A Variant of Polyfibromatosis? 124
Search for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathies 123
Severe fluoropyrimidine-related toxicity: clinical implications of DPYD analysis and UH2/U ratio evaluation 123
Molecular analysis of the IT15 gene in patients with apparently 'sporadic' Huntington's disease. 122
How is genetic testing evaluated? A systematic review of the literature 122
Essential tremor is not associated with alpha-synuclein gene haplotypes 121
Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy 121
Genetic variation in the G72/G30 gene locus (DAOA) influences the occurrence of psychotic symptoms in patients with Alzheimer's disease 120
Cannabis and psychosis: a systematic review of genetic studies 119
The policy of public health genomics in Italy 118
Next Generation Sequencing Analysis in Early Onset Dementia Patients 117
Mental function in males and females 116
NMDA receptor gene variations as modifiers in Huntington disease: a replication study. 115
Mutational analysis of parkin gene by denaturing high performance liquid chromatography (DHPLC) in essential tremor 114
mRNA distribution in adult human brain of GRIN2B, a N-methyl-D-aspartate (NMDA) receptor subunit. 114
Clinical and genetic characteristics of late-onset Huntington's disease 114
The H1 haplotype of the tau gene (MAPT) is associated with mild cognitive impairment 112
A patient with a skull defect, dysmorphic features, hypopituitarism, and abnormal cortical development. 111
Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome 111
Predictive testing for Huntington's disease: ten years' experience in two Italian centres 110
Native chromatin-DNA structure and cell-cycle: differential scanning calorimetry and gel electrophoresis 110
Is a proper name the proper name? A survey on attitude of clinical geneticists towards eponyms in Italy 107
Family and molecular data for a fine analysis of age at onset in Huntington disease 107
Clinical predictivity of genetic tests for thromboembolism. 107
Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene 104
Recommendations for the predictive genetic test in Huntington's disease. 104
Friedreich's ataxia: a new mutation in two compound heterozygous siblings with unusual clinical onset. 102
Exclusion of the ninjurin gene as a candidate for hereditary sensory neuropathies type I and type II 102
The refinement of the critical region for the 2q31.2q32.3 deletion syndrome indicates candidate genes for mental retardation and speech impairment 101
"Thermodynamic characterization of chromatin stuctural alterations related to cell cycle progression" 97
An open letter for the people in Gaza 97
Variations in the NMDA receptor subunit 2B gene (GRIN2B) and schizophrenia: a case-control study 94
Congenital hypomyelination (CH) due to myelin protein zero (P0) Q215X mutation 92
External validation of unsupervised COVID-19 clinical phenotypes and their prognostic impact 91
Juvenile renal cell carcinoma as first manifestation of von Hippel-Lindau disease 91
"The true native chromatin- DNA stucture and cell cycle" 91
Health technology assessment of genetic testing for susceptibility to venous thromboembolism in Italy - Chapter 3.4: Clinical predictivity of genetic tests for thromboembolism 91
Dopamine transporter imaging study in parkinsonism occurring in fragile X premutation carriers 89
Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study 89
Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY. 88
A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease 86
Health technology assessment of genetic testing for susceptibility to venous thromboembolism in Italy - Chapter 2.2: Provision of genetic testing for inherited thrombophilia in Italy 86
Unrecognized Pseudohypoparathyroidism Type 1A as a Cause of Hypocalcemia and Seizures in a 64-Year-Old Woman 84
β-Defensin genomic copy number does not influence the age of onset in Huntington's Disease 84
Multifocal bilateral renal cell carcinoma and retinal angiomas in a patient with de novo von Hippel-Lindau disease: identification of a new germline mutation 83
Screening for mutations in GJB1 gene in Italian patients with Charcot-Marie-Tooth disease (CMT). 83
No evidence of association between CAG expansions and essential tremor in a large cohort of Italian patient 80
Genetic Counseling and Testing for Alzheimer's Disease and Frontotemporal Lobar Degeneration: An Italian Consensus Protocol 79
Application of Genetics in the Elderly: Development, Integration, Analyses - AGE-DIAmond: development of a model based on clinical and genetic determinants to predict clinical outcome 75
A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length 75
Is Hardikar syndrome distinct from Kabuki (Niikawa-Kuroki) syndrome? A case with a novel mutation in the MLL2 gene 69
Observing Huntington's Disease: the European Huntington's Disease Network's REGISTRY 67
No evidence of association between BDNF gene variants and age at onset of Huntington disease 67
Health technology assessment of genetic testing for susceptibility to venous thromboembolism in Italy - Chapter 5.2: Genetic testing for inherited thrombophilia: the patients' perspective 66
Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions 63
Recurrence of Mowat-Wilson Syndrome in siblings with a novel mutation in the ZEB2 Gene 61
Genetic testing of Huntington disease 61
Brief HTA report: Genotipo di polimorfismi del gene dell’IL28B (IFNL3): utilizzo clinico in pazienti con HCV 59
Strategie formative sui medici potenziali prescrittori per il corretto uso dei test genomici: l'esperienza italiana 56
A case study of a ’policy network’ for the promotion of migrant health: the Italian Society of Migration Medicine (SIMM) 56
Adoption of Guidelines concerning medical examinations on arrival for asylum seekers and refugees: systematic review of literature and proposals for an implementation plan in Italy 56
Noi e altri: identità e differenze al confine tra scienze diverse (libro+DVD) 55
La Genomica in Sanità Pubblica 54
Predicting Response to Neoadjuvant Therapy in Colorectal Cancer Patients the Role of Messenger-and Micro-RNA Profiling 50
I controlli alla frontiera - La frontiera dei controlli. Controlli sanitari all’arrivo e percorsi di tutela per i migranti ospiti nei centri di accoglienza 48
Italian guideline on ‘‘health checks and protection pathways for migrants on arrival and while hosted in reception centres’’ 47
Naringerin as candidate drug against SARS-CoV-2: The role for TPC2 genomic variants in COVID-19 39
Penetrance of the V203I variant of the PRNP gene: report of a patient with stroke-like onset of Creutzfeld-Jacob Disease and review of published cases 38
A sud del Mediterraneo – L’accoglienza oltre i confini del mare. Atti dell’inaugurazione del Corso di Ateneo in Cooperazione Internazionale allo sviluppo 2018/19 37
Genetic counselling and testing for inherited dementia: single-centre evaluation of the consensus Italian DIAfN protocol 33
Communication in refugee and migrant mental healthcare: A systematic rapid review on the needs, barriers and strategies of seekers and providers of mental health services 31
Genetic variants of the human host influencing the coronavirus-associated phenotypes (SARS, MERS and COVID-19): rapid systematic review and field synopsis 28
Opinion about genetic information, prenatal diagnosis and pregnancy termination; Analysis in a sample of Italian women 27
Health right across the Mediterranean - tackling inequalities and building capacities 25
Glutamate hypothesis of schizophrenia: No evidence that the N-Methyl-D-Aspartate receptor 2B gene (GRIN2B) is associated with susceptibility to schizophrenia 19
Gene symbol: VHL. Disease: von Hippel-Lindau syndrome 15
Psychological Impact of Predictive Genetic Testing for Inherited Alzheimer Disease and Frontotemporal Dementia: The IT-DIAfN Protocol 15
Genetic testing for inherited thrombophilia: The patients' perspective 11
Disclosure of Genetic Risk Factors for Alzheimer’s Disease to Cognitively Healthy Individuals—From Current Practice towards a Personalised Medicine Scenario 11
Cognitive decline in Huntington's disease expansion gene carriers 11
Provision of genetic testing for inherited thrombophilia in Italy 11
Inclusion body myopathy, Paget's disease of the bone and frontotemporal dementia: Recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling 5
Totale 9.061
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Categoria #
all - tutte 27.468
article - articoli 24.861
book - libri 143
conference - conferenze 714
curatela - curatele 526
other - altro 553
patent - brevetti 0
selected - selezionate 0
volume - volumi 671
Totale 54.936
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.774 0 0 0 0 0 235 426 153 225 410 235 90
2020/2021732 68 79 84 48 26 70 61 55 77 62 61 41
2021/20221.093 29 80 118 111 48 67 70 270 46 76 51 127
2022/20231.042 103 79 16 112 145 216 1 67 172 18 88 25
2023/2024617 38 91 8 64 59 102 37 22 27 15 55 99
2024/2025716 79 127 43 109 165 193 0 0 0 0 0 0
Totale 9.063