IRIS
DI MARIA, EMILIO
 Distribuzione geografica
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Continente #
EU - Europa 10.685
AS - Asia 36
SA - Sud America 8
AF - Africa 1
NA - Nord America 1
Totale 10.731
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Nazione #
IT - Italia 10.682
CN - Cina 19
SG - Singapore 15
BR - Brasile 8
VN - Vietnam 2
DE - Germania 1
EG - Egitto 1
FI - Finlandia 1
GR - Grecia 1
US - Stati Uniti d'America 1
Totale 10.731
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Città #
Genova 6.617
Genoa 2.596
Rapallo 828
Vado Ligure 631
Beijing 11
Bordighera 10
Singapore 3
Aracaju 1
Blumenau 1
Da Nang 1
Fuzhou 1
Goiânia 1
Joinville 1
Lappeenranta 1
Menlo Park 1
Minya 1
Neumünster 1
Passo de Camaragibe 1
Quixadá 1
Rio de Janeiro 1
São Paulo 1
Thái Bình 1
Totale 10.711
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Nome #
Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia 313
A single nucleotide variant in the FMR1 CGG repeat results in a "pseudodeletion" and is not associated with the fragile X syndrome phenotype 192
19q13 microdeletion syndrome: Further refining the critical region 185
Does parkin play a role in the peripheral nervous system? A family report 182
A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease. 178
A majority of Huntington's disease patients may be treatable by individualized allele-specific RNA interference. 175
A putative regulatory subunit (NR3A) of the NMDA receptor complex as candidate gene for susceptibility to schizophrenia: a case-control study 175
A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect 175
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. 168
Clinical and genetic study of essential tremor in the Italian population. 164
An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP 162
Discrepancies in reporting the CAG repeat lengths for Huntington's disease 161
The -413C>G substitution in the promoter of the FMR1 gene is not associated with the fragile X syndrome phenotype 158
3q26.33–3q27.2 microdeletion: A new microdeletion syndrome? 154
The D355V mutation decreases EGR2 binding to an element within the Cx32 promoter. 150
The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients. 150
Suicidal ideation in a European Huntington's disease population 147
"Thermodynamic characterization of chromatin stuctural alterations related to cell cycle progression" 143
Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy 143
Severe fluoropyrimidine-related toxicity: clinical implications of DPYD analysis and UH2/U ratio evaluation 142
An open letter for the people in Gaza 142
Possible Influence of a Non-Synonymous Polymorphism Located in the NGF Precursor on Susceptibility to Late-Onset Alzheimer's Disease and Mild Cognitive Impairment 141
The H1 haplotype of the tau gene (MAPT) is associated with mild cognitive impairment 138
Essential tremor is not associated with alpha-synuclein gene haplotypes 137
Arthropathy, Osteolysis, Keloids, Relapsing Conjunctival Pannus and Gingival Overgrowth: A Variant of Polyfibromatosis? 136
How is genetic testing evaluated? A systematic review of the literature 136
"The true native chromatin- DNA stucture and cell cycle" 134
Search for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathies 132
Next Generation Sequencing Analysis in Early Onset Dementia Patients 132
Cannabis and psychosis: a systematic review of genetic studies 131
Molecular analysis of the IT15 gene in patients with apparently 'sporadic' Huntington's disease. 130
Genetic variation in the G72/G30 gene locus (DAOA) influences the occurrence of psychotic symptoms in patients with Alzheimer's disease 130
mRNA distribution in adult human brain of GRIN2B, a N-methyl-D-aspartate (NMDA) receptor subunit. 129
A patient with a skull defect, dysmorphic features, hypopituitarism, and abnormal cortical development. 129
Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome 128
NMDA receptor gene variations as modifiers in Huntington disease: a replication study. 127
Clinical predictivity of genetic tests for thromboembolism. 127
Mental function in males and females 124
The policy of public health genomics in Italy 123
Clinical and genetic characteristics of late-onset Huntington's disease 123
External validation of unsupervised COVID-19 clinical phenotypes and their prognostic impact 122
Mutational analysis of parkin gene by denaturing high performance liquid chromatography (DHPLC) in essential tremor 122
Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY. 122
Native chromatin-DNA structure and cell-cycle: differential scanning calorimetry and gel electrophoresis 121
Is a proper name the proper name? A survey on attitude of clinical geneticists towards eponyms in Italy 120
Predictive testing for Huntington's disease: ten years' experience in two Italian centres 118
Family and molecular data for a fine analysis of age at onset in Huntington disease 118
A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease 117
The refinement of the critical region for the 2q31.2q32.3 deletion syndrome indicates candidate genes for mental retardation and speech impairment 114
Friedreich's ataxia: a new mutation in two compound heterozygous siblings with unusual clinical onset. 112
Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene 111
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 111
Recommendations for the predictive genetic test in Huntington's disease. 111
Genetic Counseling and Testing for Alzheimer's Disease and Frontotemporal Lobar Degeneration: An Italian Consensus Protocol 111
Dopamine transporter imaging study in parkinsonism occurring in fragile X premutation carriers 110
Congenital hypomyelination (CH) due to myelin protein zero (P0) Q215X mutation 110
Exclusion of the ninjurin gene as a candidate for hereditary sensory neuropathies type I and type II 105
Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study 105
Variations in the NMDA receptor subunit 2B gene (GRIN2B) and schizophrenia: a case-control study 101
Unrecognized Pseudohypoparathyroidism Type 1A as a Cause of Hypocalcemia and Seizures in a 64-Year-Old Woman 101
Juvenile renal cell carcinoma as first manifestation of von Hippel-Lindau disease 100
Health technology assessment of genetic testing for susceptibility to venous thromboembolism in Italy - Chapter 3.4: Clinical predictivity of genetic tests for thromboembolism 96
A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length 96
β-Defensin genomic copy number does not influence the age of onset in Huntington's Disease 95
Recurrence of Mowat-Wilson Syndrome in siblings with a novel mutation in the ZEB2 Gene 94
Screening for mutations in GJB1 gene in Italian patients with Charcot-Marie-Tooth disease (CMT). 94
Multifocal bilateral renal cell carcinoma and retinal angiomas in a patient with de novo von Hippel-Lindau disease: identification of a new germline mutation 90
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 89
No evidence of association between CAG expansions and essential tremor in a large cohort of Italian patient 87
Brief HTA report: Genotipo di polimorfismi del gene dell’IL28B (IFNL3): utilizzo clinico in pazienti con HCV 80
No evidence of association between BDNF gene variants and age at onset of Huntington disease 78
Observing Huntington's Disease: the European Huntington's Disease Network's REGISTRY 77
Is Hardikar syndrome distinct from Kabuki (Niikawa-Kuroki) syndrome? A case with a novel mutation in the MLL2 gene 74
Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions 74
A case study of a ’policy network’ for the promotion of migrant health: the Italian Society of Migration Medicine (SIMM) 73
Health technology assessment of genetic testing for susceptibility to venous thromboembolism in Italy - Chapter 5.2: Genetic testing for inherited thrombophilia: the patients' perspective 71
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 71
Predicting Response to Neoadjuvant Therapy in Colorectal Cancer Patients the Role of Messenger-and Micro-RNA Profiling 69
Genetic testing of Huntington disease 68
Strategie formative sui medici potenziali prescrittori per il corretto uso dei test genomici: l'esperienza italiana 66
Noi e altri: identità e differenze al confine tra scienze diverse (libro+DVD) 65
La Genomica in Sanità Pubblica 64
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 60
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 60
I controlli alla frontiera - La frontiera dei controlli. Controlli sanitari all’arrivo e percorsi di tutela per i migranti ospiti nei centri di accoglienza 58
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 55
Italian guideline on ‘‘health checks and protection pathways for migrants on arrival and while hosted in reception centres’’ 53
Opinion about genetic information, prenatal diagnosis and pregnancy termination; Analysis in a sample of Italian women 47
Naringerin as candidate drug against SARS-CoV-2: The role for TPC2 genomic variants in COVID-19 47
Gene symbol: VHL. Disease: von Hippel-Lindau syndrome 42
Glutamate hypothesis of schizophrenia: No evidence that the N-Methyl-D-Aspartate receptor 2B gene (GRIN2B) is associated with susceptibility to schizophrenia 42
Genetic counselling and testing for inherited dementia: single-centre evaluation of the consensus Italian DIAfN protocol 42
Health right across the Mediterranean - tackling inequalities and building capacities 37
Genetic variants of the human host influencing the coronavirus-associated phenotypes (SARS, MERS and COVID-19): rapid systematic review and field synopsis 33
Cognitive decline in Huntington's disease expansion gene carriers 30
Provision of genetic testing for inherited thrombophilia in Italy 28
Genetic testing for inherited thrombophilia: The patients' perspective 26
A novel SPAST gene splicing variant (c.1617-2A>C) in a heterozygous carrier with hereditary spastic paraplegia 26
Psychological Impact of Predictive Genetic Testing for Inherited Alzheimer Disease and Frontotemporal Dementia: The IT-DIAfN Protocol 25
Disclosure of Genetic Risk Factors for Alzheimer’s Disease to Cognitively Healthy Individuals—From Current Practice towards a Personalised Medicine Scenario 23
Totale 10.813
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Categoria #
all - tutte 35.800
article - articoli 32.061
book - libri 208
conference - conferenze 1.027
curatela - curatele 752
other - altro 802
patent - brevetti 0
selected - selezionate 0
volume - volumi 950
Totale 71.600
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021501 0 0 0 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
2024/20251.621 79 127 43 109 165 200 171 238 62 74 142 211
2025/2026869 362 86 189 232 0 0 0 0 0 0 0 0
Totale 10.837