IRIS
DI MARIA, EMILIO
 Distribuzione geografica
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Continente #
EU - Europa 11.095
AS - Asia 1.297
NA - Nord America 1.024
SA - Sud America 84
AF - Africa 18
OC - Oceania 2
Totale 13.520
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Nazione #
IT - Italia 10.887
US - Stati Uniti d'America 958
SG - Singapore 500
CN - Cina 324
VN - Vietnam 233
BD - Bangladesh 112
FR - Francia 97
BR - Brasile 50
HK - Hong Kong 47
FI - Finlandia 28
CA - Canada 23
JP - Giappone 17
AR - Argentina 16
NL - Olanda 16
DE - Germania 13
GB - Regno Unito 13
MX - Messico 11
IQ - Iraq 9
IN - India 8
JM - Giamaica 8
TH - Thailandia 8
RU - Federazione Russa 7
TR - Turchia 7
CH - Svizzera 6
PK - Pakistan 6
CR - Costa Rica 5
VE - Venezuela 5
ZA - Sudafrica 5
CO - Colombia 4
EC - Ecuador 4
SA - Arabia Saudita 4
AT - Austria 3
AZ - Azerbaigian 3
CI - Costa d'Avorio 3
DZ - Algeria 3
ES - Italia 3
IE - Irlanda 3
PT - Portogallo 3
SV - El Salvador 3
AL - Albania 2
BG - Bulgaria 2
DO - Repubblica Dominicana 2
EG - Egitto 2
ET - Etiopia 2
HN - Honduras 2
ID - Indonesia 2
JO - Giordania 2
KR - Corea 2
MY - Malesia 2
PA - Panama 2
PE - Perù 2
PL - Polonia 2
PR - Porto Rico 2
RO - Romania 2
TT - Trinidad e Tobago 2
UA - Ucraina 2
UZ - Uzbekistan 2
AU - Australia 1
BB - Barbados 1
BE - Belgio 1
BH - Bahrain 1
BO - Bolivia 1
BS - Bahamas 1
BZ - Belize 1
GE - Georgia 1
GR - Grecia 1
GT - Guatemala 1
HU - Ungheria 1
IL - Israele 1
KE - Kenya 1
LB - Libano 1
LT - Lituania 1
MA - Marocco 1
MM - Myanmar 1
MQ - Martinica 1
NI - Nicaragua 1
NO - Norvegia 1
NP - Nepal 1
NZ - Nuova Zelanda 1
OM - Oman 1
PH - Filippine 1
PY - Paraguay 1
SC - Seychelles 1
SE - Svezia 1
TW - Taiwan 1
UY - Uruguay 1
Totale 13.520
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Città #
Genova 6.617
Genoa 2.623
Rapallo 828
Vado Ligure 631
Singapore 246
San Jose 192
Ashburn 105
Lauterbourg 85
Ho Chi Minh City 63
New York 63
Hanoi 56
Beijing 55
Hong Kong 44
Council Bluffs 39
Santa Clara 28
Helsinki 26
Dallas 21
Los Angeles 19
Rome 16
Jersey City 14
Tokyo 14
Da Nang 13
Chicago 11
Phoenix 11
Bari 10
Bordighera 10
Buffalo 10
St Louis 10
Turin 10
Boardman 9
Frankfurt am Main 8
Naples 8
San Francisco 8
Columbus 7
Milan 7
Orem 7
Philadelphia 7
Tianjin 7
Baghdad 6
Brooklyn 6
Haiphong 6
Mexico City 6
Springfield 6
São Paulo 6
Zurich 6
Amsterdam 5
Atlanta 5
Biên Hòa 5
Can Tho 5
Denver 5
Las Vegas 5
San José 5
Shanghai 5
Washington 5
Busnago 4
Bắc Ninh 4
Des Moines 4
Guangzhou 4
Houston 4
London 4
Montreal 4
Moscow 4
Round Lake 4
Abidjan 3
Bangkok 3
Bologna 3
Brescia 3
Cardiff 3
Charlotte 3
Cincinnati 3
Dhaka 3
Harbin 3
Istanbul 3
Jacksonville 3
Jeddah 3
Johannesburg 3
Kingston 3
Lahore 3
Mandeville 3
Marseille 3
Messina 3
Minneapolis 3
Omaha 3
Paris 3
Prosper 3
Quảng Ngãi 3
Quận Ba 3
Salem 3
Seattle 3
Thái Bình 3
Toronto 3
Verona 3
Addis Ababa 2
Albiano Magra 2
Aracaju 2
Arcugnano 2
Basingstoke 2
Bayamón 2
Beaumont 2
Belleview 2
Totale 12.164
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Nome #
Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia 394
An open letter for the people in Gaza 238
A single nucleotide variant in the FMR1 CGG repeat results in a "pseudodeletion" and is not associated with the fragile X syndrome phenotype 226
Does parkin play a role in the peripheral nervous system? A family report 214
A putative regulatory subunit (NR3A) of the NMDA receptor complex as candidate gene for susceptibility to schizophrenia: a case-control study 213
19q13 microdeletion syndrome: Further refining the critical region 212
A majority of Huntington's disease patients may be treatable by individualized allele-specific RNA interference. 207
A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease. 203
A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect 202
An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP 200
External validation of unsupervised COVID-19 clinical phenotypes and their prognostic impact 198
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. 196
Clinical and genetic study of essential tremor in the Italian population. 192
Discrepancies in reporting the CAG repeat lengths for Huntington's disease 192
"Thermodynamic characterization of chromatin stuctural alterations related to cell cycle progression" 185
The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients. 184
3q26.33–3q27.2 microdeletion: A new microdeletion syndrome? 181
Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study 180
Suicidal ideation in a European Huntington's disease population 179
Clinical predictivity of genetic tests for thromboembolism. 177
Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy 173
The -413C>G substitution in the promoter of the FMR1 gene is not associated with the fragile X syndrome phenotype 170
Next Generation Sequencing Analysis in Early Onset Dementia Patients 168
"The true native chromatin- DNA stucture and cell cycle" 166
Severe fluoropyrimidine-related toxicity: clinical implications of DPYD analysis and UH2/U ratio evaluation 165
The D355V mutation decreases EGR2 binding to an element within the Cx32 promoter. 165
Possible Influence of a Non-Synonymous Polymorphism Located in the NGF Precursor on Susceptibility to Late-Onset Alzheimer's Disease and Mild Cognitive Impairment 161
A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease 159
How is genetic testing evaluated? A systematic review of the literature 159
Clinical and genetic characteristics of late-onset Huntington's disease 156
Arthropathy, Osteolysis, Keloids, Relapsing Conjunctival Pannus and Gingival Overgrowth: A Variant of Polyfibromatosis? 155
A patient with a skull defect, dysmorphic features, hypopituitarism, and abnormal cortical development. 155
The H1 haplotype of the tau gene (MAPT) is associated with mild cognitive impairment 153
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 153
Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome 151
Essential tremor is not associated with alpha-synuclein gene haplotypes 150
Cannabis and psychosis: a systematic review of genetic studies 149
Genetic Counseling and Testing for Alzheimer's Disease and Frontotemporal Lobar Degeneration: An Italian Consensus Protocol 149
NMDA receptor gene variations as modifiers in Huntington disease: a replication study. 147
mRNA distribution in adult human brain of GRIN2B, a N-methyl-D-aspartate (NMDA) receptor subunit. 146
Genetic variation in the G72/G30 gene locus (DAOA) influences the occurrence of psychotic symptoms in patients with Alzheimer's disease 146
Search for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathies 145
Mutational analysis of parkin gene by denaturing high performance liquid chromatography (DHPLC) in essential tremor 143
Molecular analysis of the IT15 gene in patients with apparently 'sporadic' Huntington's disease. 143
Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY. 142
Mental function in males and females 141
Unrecognized Pseudohypoparathyroidism Type 1A as a Cause of Hypocalcemia and Seizures in a 64-Year-Old Woman 139
The policy of public health genomics in Italy 135
Is a proper name the proper name? A survey on attitude of clinical geneticists towards eponyms in Italy 134
Congenital hypomyelination (CH) due to myelin protein zero (P0) Q215X mutation 134
Family and molecular data for a fine analysis of age at onset in Huntington disease 133
Native chromatin-DNA structure and cell-cycle: differential scanning calorimetry and gel electrophoresis 133
β-Defensin genomic copy number does not influence the age of onset in Huntington's Disease 132
Predictive testing for Huntington's disease: ten years' experience in two Italian centres 131
The refinement of the critical region for the 2q31.2q32.3 deletion syndrome indicates candidate genes for mental retardation and speech impairment 130
Friedreich's ataxia: a new mutation in two compound heterozygous siblings with unusual clinical onset. 130
Dopamine transporter imaging study in parkinsonism occurring in fragile X premutation carriers 125
Recommendations for the predictive genetic test in Huntington's disease. 125
A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length 124
Exclusion of the ninjurin gene as a candidate for hereditary sensory neuropathies type I and type II 121
Screening for mutations in GJB1 gene in Italian patients with Charcot-Marie-Tooth disease (CMT). 121
Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene 120
Juvenile renal cell carcinoma as first manifestation of von Hippel-Lindau disease 119
Variations in the NMDA receptor subunit 2B gene (GRIN2B) and schizophrenia: a case-control study 113
Recurrence of Mowat-Wilson Syndrome in siblings with a novel mutation in the ZEB2 Gene 113
Brief HTA report: Genotipo di polimorfismi del gene dell’IL28B (IFNL3): utilizzo clinico in pazienti con HCV 113
Multifocal bilateral renal cell carcinoma and retinal angiomas in a patient with de novo von Hippel-Lindau disease: identification of a new germline mutation 107
No evidence of association between CAG expansions and essential tremor in a large cohort of Italian patient 105
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 103
Predicting Response to Neoadjuvant Therapy in Colorectal Cancer Patients the Role of Messenger-and Micro-RNA Profiling 103
Health technology assessment of genetic testing for susceptibility to venous thromboembolism in Italy - Chapter 3.4: Clinical predictivity of genetic tests for thromboembolism 102
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 101
A case study of a ’policy network’ for the promotion of migrant health: the Italian Society of Migration Medicine (SIMM) 101
Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions 99
Observing Huntington's Disease: the European Huntington's Disease Network's REGISTRY 96
No evidence of association between BDNF gene variants and age at onset of Huntington disease 93
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 93
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 91
Neuropsychological assessment in cognitively healthy nonagenarians and centenarians: an updated systematic review and meta-analysis 90
Is Hardikar syndrome distinct from Kabuki (Niikawa-Kuroki) syndrome? A case with a novel mutation in the MLL2 gene 87
Noi e altri: identità e differenze al confine tra scienze diverse (libro+DVD) 86
Genetic testing of Huntington disease 84
Health technology assessment of genetic testing for susceptibility to venous thromboembolism in Italy - Chapter 5.2: Genetic testing for inherited thrombophilia: the patients' perspective 83
Strategie formative sui medici potenziali prescrittori per il corretto uso dei test genomici: l'esperienza italiana 82
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 80
I controlli alla frontiera - La frontiera dei controlli. Controlli sanitari all’arrivo e percorsi di tutela per i migranti ospiti nei centri di accoglienza 78
La Genomica in Sanità Pubblica 76
Italian guideline on ‘‘health checks and protection pathways for migrants on arrival and while hosted in reception centres’’ 73
Opinion about genetic information, prenatal diagnosis and pregnancy termination; Analysis in a sample of Italian women 71
Gene symbol: VHL. Disease: von Hippel-Lindau syndrome 65
Disclosure of Genetic Risk Factors for Alzheimer’s Disease to Cognitively Healthy Individuals—From Current Practice towards a Personalised Medicine Scenario 64
Naringerin as candidate drug against SARS-CoV-2: The role for TPC2 genomic variants in COVID-19 62
Glutamate hypothesis of schizophrenia: No evidence that the N-Methyl-D-Aspartate receptor 2B gene (GRIN2B) is associated with susceptibility to schizophrenia 61
A novel SPAST gene splicing variant (c.1617-2A>C) in a heterozygous carrier with hereditary spastic paraplegia 59
Genetic counselling and testing for inherited dementia: single-centre evaluation of the consensus Italian DIAfN protocol 58
Health right across the Mediterranean - tackling inequalities and building capacities 54
Genetic testing for inherited thrombophilia: The patients' perspective 52
Genetic variants of the human host influencing the coronavirus-associated phenotypes (SARS, MERS and COVID-19): rapid systematic review and field synopsis 50
Mental health for all - from evidence to engagement: being proactive to mitigate language barriers and to improve equity of mental health care for refugees and migrants 48
Cognitive decline in Huntington's disease expansion gene carriers 47
Totale 13.412
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Categoria #
all - tutte 43.339
article - articoli 38.616
book - libri 266
conference - conferenze 1.253
curatela - curatele 919
other - altro 1.054
patent - brevetti 0
selected - selezionate 0
volume - volumi 1.231
Totale 86.678
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
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
2025/20263.284 362 86 189 275 351 338 530 169 216 288 224 256
2026/2027381 381 0 0 0 0 0 0 0 0 0 0 0
Totale 13.633