IRIS
DI MARIA, EMILIO
 Distribuzione geografica
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Continente #
EU - Europa 10.944
AS - Asia 1.166
NA - Nord America 423
SA - Sud America 77
AF - Africa 17
OC - Oceania 2
Totale 12.629
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Nazione #
IT - Italia 10.752
SG - Singapore 495
US - Stati Uniti d'America 395
CN - Cina 309
VN - Vietnam 232
FR - Francia 96
BR - Brasile 48
HK - Hong Kong 45
FI - Finlandia 28
JP - Giappone 16
AR - Argentina 13
DE - Germania 13
NL - Olanda 13
GB - Regno Unito 12
MX - Messico 10
IQ - Iraq 9
BD - Bangladesh 8
IN - India 8
TH - Thailandia 8
TR - Turchia 7
CH - Svizzera 6
PK - Pakistan 6
RU - Federazione Russa 6
CA - Canada 5
VE - Venezuela 5
ZA - Sudafrica 5
SA - Arabia Saudita 4
AZ - Azerbaigian 3
CI - Costa d'Avorio 3
CO - Colombia 3
DZ - Algeria 3
EC - Ecuador 3
AL - Albania 2
CR - Costa Rica 2
DO - Repubblica Dominicana 2
EG - Egitto 2
ET - Etiopia 2
HN - Honduras 2
ID - Indonesia 2
IE - Irlanda 2
JO - Giordania 2
KR - Corea 2
PA - Panama 2
PE - Perù 2
PL - Polonia 2
PT - Portogallo 2
SV - El Salvador 2
UA - Ucraina 2
UZ - Uzbekistan 2
AT - Austria 1
AU - Australia 1
BE - Belgio 1
BG - Bulgaria 1
BH - Bahrain 1
BO - Bolivia 1
ES - Italia 1
GE - Georgia 1
GR - Grecia 1
GT - Guatemala 1
HU - Ungheria 1
IL - Israele 1
JM - Giamaica 1
KE - Kenya 1
LB - Libano 1
LT - Lituania 1
MA - Marocco 1
MY - Malesia 1
NI - Nicaragua 1
NZ - Nuova Zelanda 1
OM - Oman 1
PH - Filippine 1
PY - Paraguay 1
RO - Romania 1
TW - Taiwan 1
UY - Uruguay 1
Totale 12.629
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Città #
Genova 6.617
Genoa 2.612
Rapallo 828
Vado Ligure 631
Singapore 242
San Jose 133
Lauterbourg 85
Ho Chi Minh City 63
Hanoi 55
Ashburn 43
Hong Kong 42
Beijing 40
Council Bluffs 38
New York 28
Helsinki 26
Santa Clara 18
Da Nang 13
Tokyo 13
Bordighera 10
St Louis 10
Frankfurt am Main 8
Tianjin 7
Turin 7
Baghdad 6
Haiphong 6
Los Angeles 6
São Paulo 6
Zurich 6
Amsterdam 5
Biên Hòa 5
Can Tho 5
Mexico City 5
Phoenix 5
Shanghai 5
Bắc Ninh 4
Des Moines 4
Guangzhou 4
Moscow 4
Orem 4
Abidjan 3
Bangkok 3
Cardiff 3
Dhaka 3
Harbin 3
Istanbul 3
Jeddah 3
Johannesburg 3
Lahore 3
London 3
Marseille 3
Milan 3
Naples 3
Paris 3
Quảng Ngãi 3
Quận Ba 3
Thái Bình 3
Addis Ababa 2
Albiano Magra 2
Aracaju 2
Basingstoke 2
Blida 2
Boardman 2
Brescia 2
Bình Phước 2
Chicago 2
City of London 2
Dublin 2
Goiânia 2
Hillsboro 2
Houston 2
Hải Dương 2
Joué-lès-Tours 2
Lappeenranta 2
Nam Định 2
Nuremberg 2
Panama City 2
Penafiel 2
Pescara 2
Quảng Ninh 2
Quận Một 2
Rio de Janeiro 2
San José 2
San Salvador 2
Tashkent 2
Vĩnh Tường 2
Washington 2
Adrogué 1
Agadir 1
Alcalà de Xivert 1
Amman 1
Ancona 1
Antalya 1
Apizaco 1
Assisi 1
Atlanta 1
Ba Dinh 1
Bagé 1
Baku 1
Bang Lamung 1
Bargarh 1
Totale 11.774
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Nome #
Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia 351
A single nucleotide variant in the FMR1 CGG repeat results in a "pseudodeletion" and is not associated with the fragile X syndrome phenotype 219
An open letter for the people in Gaza 213
19q13 microdeletion syndrome: Further refining the critical region 207
A putative regulatory subunit (NR3A) of the NMDA receptor complex as candidate gene for susceptibility to schizophrenia: a case-control study 204
Does parkin play a role in the peripheral nervous system? A family report 204
A majority of Huntington's disease patients may be treatable by individualized allele-specific RNA interference. 201
A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease. 198
A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect 195
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. 187
An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP 187
Discrepancies in reporting the CAG repeat lengths for Huntington's disease 185
Clinical and genetic study of essential tremor in the Italian population. 181
The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients. 177
3q26.33–3q27.2 microdeletion: A new microdeletion syndrome? 174
"Thermodynamic characterization of chromatin stuctural alterations related to cell cycle progression" 169
The -413C>G substitution in the promoter of the FMR1 gene is not associated with the fragile X syndrome phenotype 167
Suicidal ideation in a European Huntington's disease population 166
Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy 166
The D355V mutation decreases EGR2 binding to an element within the Cx32 promoter. 160
Severe fluoropyrimidine-related toxicity: clinical implications of DPYD analysis and UH2/U ratio evaluation 159
"The true native chromatin- DNA stucture and cell cycle" 159
Clinical predictivity of genetic tests for thromboembolism. 156
Possible Influence of a Non-Synonymous Polymorphism Located in the NGF Precursor on Susceptibility to Late-Onset Alzheimer's Disease and Mild Cognitive Impairment 154
Next Generation Sequencing Analysis in Early Onset Dementia Patients 154
External validation of unsupervised COVID-19 clinical phenotypes and their prognostic impact 152
A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease 152
Arthropathy, Osteolysis, Keloids, Relapsing Conjunctival Pannus and Gingival Overgrowth: A Variant of Polyfibromatosis? 151
How is genetic testing evaluated? A systematic review of the literature 151
Essential tremor is not associated with alpha-synuclein gene haplotypes 148
A patient with a skull defect, dysmorphic features, hypopituitarism, and abnormal cortical development. 148
The H1 haplotype of the tau gene (MAPT) is associated with mild cognitive impairment 148
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 148
Clinical and genetic characteristics of late-onset Huntington's disease 147
Cannabis and psychosis: a systematic review of genetic studies 144
Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome 144
Molecular analysis of the IT15 gene in patients with apparently 'sporadic' Huntington's disease. 143
Search for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathies 142
Genetic variation in the G72/G30 gene locus (DAOA) influences the occurrence of psychotic symptoms in patients with Alzheimer's disease 142
mRNA distribution in adult human brain of GRIN2B, a N-methyl-D-aspartate (NMDA) receptor subunit. 141
NMDA receptor gene variations as modifiers in Huntington disease: a replication study. 140
Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study 139
Mental function in males and females 135
Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY. 134
Mutational analysis of parkin gene by denaturing high performance liquid chromatography (DHPLC) in essential tremor 133
Congenital hypomyelination (CH) due to myelin protein zero (P0) Q215X mutation 132
The policy of public health genomics in Italy 132
Is a proper name the proper name? A survey on attitude of clinical geneticists towards eponyms in Italy 131
Native chromatin-DNA structure and cell-cycle: differential scanning calorimetry and gel electrophoresis 131
Predictive testing for Huntington's disease: ten years' experience in two Italian centres 129
Family and molecular data for a fine analysis of age at onset in Huntington disease 129
The refinement of the critical region for the 2q31.2q32.3 deletion syndrome indicates candidate genes for mental retardation and speech impairment 126
Friedreich's ataxia: a new mutation in two compound heterozygous siblings with unusual clinical onset. 126
Genetic Counseling and Testing for Alzheimer's Disease and Frontotemporal Lobar Degeneration: An Italian Consensus Protocol 125
β-Defensin genomic copy number does not influence the age of onset in Huntington's Disease 124
Unrecognized Pseudohypoparathyroidism Type 1A as a Cause of Hypocalcemia and Seizures in a 64-Year-Old Woman 122
Recommendations for the predictive genetic test in Huntington's disease. 121
Dopamine transporter imaging study in parkinsonism occurring in fragile X premutation carriers 118
Juvenile renal cell carcinoma as first manifestation of von Hippel-Lindau disease 118
Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene 118
A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length 118
Exclusion of the ninjurin gene as a candidate for hereditary sensory neuropathies type I and type II 118
Screening for mutations in GJB1 gene in Italian patients with Charcot-Marie-Tooth disease (CMT). 116
Variations in the NMDA receptor subunit 2B gene (GRIN2B) and schizophrenia: a case-control study 110
Recurrence of Mowat-Wilson Syndrome in siblings with a novel mutation in the ZEB2 Gene 108
Multifocal bilateral renal cell carcinoma and retinal angiomas in a patient with de novo von Hippel-Lindau disease: identification of a new germline mutation 104
No evidence of association between CAG expansions and essential tremor in a large cohort of Italian patient 102
Brief HTA report: Genotipo di polimorfismi del gene dell’IL28B (IFNL3): utilizzo clinico in pazienti con HCV 102
Health technology assessment of genetic testing for susceptibility to venous thromboembolism in Italy - Chapter 3.4: Clinical predictivity of genetic tests for thromboembolism 100
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 98
Predicting Response to Neoadjuvant Therapy in Colorectal Cancer Patients the Role of Messenger-and Micro-RNA Profiling 97
A case study of a ’policy network’ for the promotion of migrant health: the Italian Society of Migration Medicine (SIMM) 95
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 94
Observing Huntington's Disease: the European Huntington's Disease Network's REGISTRY 93
Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions 90
No evidence of association between BDNF gene variants and age at onset of Huntington disease 88
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 87
Is Hardikar syndrome distinct from Kabuki (Niikawa-Kuroki) syndrome? A case with a novel mutation in the MLL2 gene 85
Noi e altri: identità e differenze al confine tra scienze diverse (libro+DVD) 84
Genetic testing of Huntington disease 82
Health technology assessment of genetic testing for susceptibility to venous thromboembolism in Italy - Chapter 5.2: Genetic testing for inherited thrombophilia: the patients' perspective 81
Strategie formative sui medici potenziali prescrittori per il corretto uso dei test genomici: l'esperienza italiana 80
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 80
La Genomica in Sanità Pubblica 74
I controlli alla frontiera - La frontiera dei controlli. Controlli sanitari all’arrivo e percorsi di tutela per i migranti ospiti nei centri di accoglienza 73
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 72
Opinion about genetic information, prenatal diagnosis and pregnancy termination; Analysis in a sample of Italian women 63
Italian guideline on ‘‘health checks and protection pathways for migrants on arrival and while hosted in reception centres’’ 61
Disclosure of Genetic Risk Factors for Alzheimer’s Disease to Cognitively Healthy Individuals—From Current Practice towards a Personalised Medicine Scenario 58
Glutamate hypothesis of schizophrenia: No evidence that the N-Methyl-D-Aspartate receptor 2B gene (GRIN2B) is associated with susceptibility to schizophrenia 58
Naringerin as candidate drug against SARS-CoV-2: The role for TPC2 genomic variants in COVID-19 56
Gene symbol: VHL. Disease: von Hippel-Lindau syndrome 55
Genetic counselling and testing for inherited dementia: single-centre evaluation of the consensus Italian DIAfN protocol 54
A novel SPAST gene splicing variant (c.1617-2A>C) in a heterozygous carrier with hereditary spastic paraplegia 52
Health right across the Mediterranean - tackling inequalities and building capacities 52
Genetic testing for inherited thrombophilia: The patients' perspective 44
Cognitive decline in Huntington's disease expansion gene carriers 41
Genetic variants of the human host influencing the coronavirus-associated phenotypes (SARS, MERS and COVID-19): rapid systematic review and field synopsis 41
Provision of genetic testing for inherited thrombophilia in Italy 39
Psychological Impact of Predictive Genetic Testing for Inherited Alzheimer Disease and Frontotemporal Dementia: The IT-DIAfN Protocol 35
Totale 12.597
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Categoria #
all - tutte 39.508
article - articoli 35.220
book - libri 240
conference - conferenze 1.150
curatela - curatele 846
other - altro 948
patent - brevetti 0
selected - selezionate 0
volume - volumi 1.104
Totale 79.016
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021164 0 0 0 0 0 0 0 0 0 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
2025/20262.774 362 86 189 275 351 338 530 169 216 258 0 0
Totale 12.742