IRIS
DI MARIA, EMILIO
 Distribuzione geografica
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Continente #
EU - Europa 10.714
AS - Asia 378
SA - Sud America 57
NA - Nord America 52
AF - Africa 7
Totale 11.208
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Nazione #
IT - Italia 10.696
SG - Singapore 146
CN - Cina 121
VN - Vietnam 85
US - Stati Uniti d'America 40
BR - Brasile 38
HK - Hong Kong 10
AR - Argentina 9
MX - Messico 7
NL - Olanda 6
ZA - Sudafrica 4
BD - Bangladesh 3
EC - Ecuador 3
VE - Venezuela 3
DE - Germania 2
EG - Egitto 2
HN - Honduras 2
IN - India 2
IQ - Iraq 2
PE - Perù 2
PT - Portogallo 2
RU - Federazione Russa 2
TR - Turchia 2
UA - Ucraina 2
AL - Albania 1
BH - Bahrain 1
BO - Bolivia 1
CI - Costa d'Avorio 1
DO - Repubblica Dominicana 1
FI - Finlandia 1
GB - Regno Unito 1
GR - Grecia 1
ID - Indonesia 1
JP - Giappone 1
LB - Libano 1
MY - Malesia 1
PA - Panama 1
PY - Paraguay 1
SA - Arabia Saudita 1
SV - El Salvador 1
UZ - Uzbekistan 1
Totale 11.208
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Città #
Genova 6.617
Genoa 2.598
Rapallo 828
Vado Ligure 631
Singapore 66
Beijing 36
Ho Chi Minh City 33
Hanoi 17
Council Bluffs 14
Ashburn 13
Bordighera 10
Hong Kong 10
Mexico City 5
São Paulo 5
Tianjin 5
Can Tho 4
Da Nang 4
Guangzhou 4
Biên Hòa 3
Haiphong 3
Johannesburg 3
Albiano Magra 2
Amsterdam 2
Aracaju 2
Baghdad 2
Bắc Ninh 2
Goiânia 2
Nam Định 2
Orem 2
Penafiel 2
Quảng Ngãi 2
Rio de Janeiro 2
Thái Bình 2
Abidjan 1
Apizaco 1
Bagé 1
Bargarh 1
Batam 1
Blumenau 1
Boardman 1
Brasília 1
Buenos Aires 1
Campo Grande 1
Caracas 1
Centro Municipality 1
Changsha 1
Concepción de la Vega 1
Conchal 1
Criciúma 1
Denver 1
Dhaka 1
Ensenada 1
Formosa 1
Fuzhou 1
Garín 1
General Villamil 1
Gracias 1
Groningen 1
Guayaquil 1
Houston 1
Istanbul 1
Itaquaquecetuba 1
Ituzaingó 1
Jandira 1
Jeddah 1
Jersey City 1
Jinan 1
Joinville 1
João Pessoa 1
Juiz de Fora 1
Korçë 1
La Paz 1
Lappeenranta 1
Lima 1
Los Angeles 1
Manama 1
Manaus 1
Manchester 1
Maracaibo 1
Maringá 1
Menlo Park 1
Minya 1
Moscow 1
Muriaé 1
Nantong 1
Navegantes 1
Neumünster 1
Ninh Bình 1
Nuremberg 1
Olinda 1
Panama City 1
Passo de Camaragibe 1
Pereiaslav 1
Petaling Jaya 1
Phoenix 1
Phúc Yên 1
Phủ Lý 1
Poltava 1
Qingdao 1
Quanzhou 1
Totale 11.000
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Nome #
Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia 323
A single nucleotide variant in the FMR1 CGG repeat results in a "pseudodeletion" and is not associated with the fragile X syndrome phenotype 202
19q13 microdeletion syndrome: Further refining the critical region 194
Does parkin play a role in the peripheral nervous system? A family report 190
A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease. 182
A majority of Huntington's disease patients may be treatable by individualized allele-specific RNA interference. 181
A putative regulatory subunit (NR3A) of the NMDA receptor complex as candidate gene for susceptibility to schizophrenia: a case-control study 181
A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect 180
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. 175
An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP 171
Discrepancies in reporting the CAG repeat lengths for Huntington's disease 169
Clinical and genetic study of essential tremor in the Italian population. 167
3q26.33–3q27.2 microdeletion: A new microdeletion syndrome? 162
An open letter for the people in Gaza 162
The -413C>G substitution in the promoter of the FMR1 gene is not associated with the fragile X syndrome phenotype 160
The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients. 156
The D355V mutation decreases EGR2 binding to an element within the Cx32 promoter. 153
Suicidal ideation in a European Huntington's disease population 153
Severe fluoropyrimidine-related toxicity: clinical implications of DPYD analysis and UH2/U ratio evaluation 148
"Thermodynamic characterization of chromatin stuctural alterations related to cell cycle progression" 148
Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy 148
Arthropathy, Osteolysis, Keloids, Relapsing Conjunctival Pannus and Gingival Overgrowth: A Variant of Polyfibromatosis? 144
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 true native chromatin- DNA stucture and cell cycle" 140
The H1 haplotype of the tau gene (MAPT) is associated with mild cognitive impairment 140
How is genetic testing evaluated? A systematic review of the literature 139
Essential tremor is not associated with alpha-synuclein gene haplotypes 137
Clinical predictivity of genetic tests for thromboembolism. 137
A patient with a skull defect, dysmorphic features, hypopituitarism, and abnormal cortical development. 135
Search for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathies 134
Cannabis and psychosis: a systematic review of genetic studies 133
Next Generation Sequencing Analysis in Early Onset Dementia Patients 133
Molecular analysis of the IT15 gene in patients with apparently 'sporadic' Huntington's disease. 131
Genetic variation in the G72/G30 gene locus (DAOA) influences the occurrence of psychotic symptoms in patients with Alzheimer's disease 131
External validation of unsupervised COVID-19 clinical phenotypes and their prognostic impact 130
mRNA distribution in adult human brain of GRIN2B, a N-methyl-D-aspartate (NMDA) receptor subunit. 130
Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome 130
A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease 129
Clinical and genetic characteristics of late-onset Huntington's disease 129
NMDA receptor gene variations as modifiers in Huntington disease: a replication study. 128
Mental function in males and females 127
The policy of public health genomics in Italy 125
Mutational analysis of parkin gene by denaturing high performance liquid chromatography (DHPLC) in essential tremor 124
Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY. 124
Is a proper name the proper name? A survey on attitude of clinical geneticists towards eponyms in Italy 123
Native chromatin-DNA structure and cell-cycle: differential scanning calorimetry and gel electrophoresis 122
Predictive testing for Huntington's disease: ten years' experience in two Italian centres 119
Congenital hypomyelination (CH) due to myelin protein zero (P0) Q215X mutation 119
Family and molecular data for a fine analysis of age at onset in Huntington disease 119
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 119
The refinement of the critical region for the 2q31.2q32.3 deletion syndrome indicates candidate genes for mental retardation and speech impairment 116
Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study 116
Genetic Counseling and Testing for Alzheimer's Disease and Frontotemporal Lobar Degeneration: An Italian Consensus Protocol 116
Friedreich's ataxia: a new mutation in two compound heterozygous siblings with unusual clinical onset. 115
Dopamine transporter imaging study in parkinsonism occurring in fragile X premutation carriers 112
Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene 112
Recommendations for the predictive genetic test in Huntington's disease. 112
Unrecognized Pseudohypoparathyroidism Type 1A as a Cause of Hypocalcemia and Seizures in a 64-Year-Old Woman 110
Exclusion of the ninjurin gene as a candidate for hereditary sensory neuropathies type I and type II 108
β-Defensin genomic copy number does not influence the age of onset in Huntington's Disease 106
A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length 105
Variations in the NMDA receptor subunit 2B gene (GRIN2B) and schizophrenia: a case-control study 103
Juvenile renal cell carcinoma as first manifestation of von Hippel-Lindau disease 102
Screening for mutations in GJB1 gene in Italian patients with Charcot-Marie-Tooth disease (CMT). 100
Recurrence of Mowat-Wilson Syndrome in siblings with a novel mutation in the ZEB2 Gene 99
Health technology assessment of genetic testing for susceptibility to venous thromboembolism in Italy - Chapter 3.4: Clinical predictivity of genetic tests for thromboembolism 96
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 92
Multifocal bilateral renal cell carcinoma and retinal angiomas in a patient with de novo von Hippel-Lindau disease: identification of a new germline mutation 91
No evidence of association between CAG expansions and essential tremor in a large cohort of Italian patient 89
Brief HTA report: Genotipo di polimorfismi del gene dell’IL28B (IFNL3): utilizzo clinico in pazienti con HCV 83
Observing Huntington's Disease: the European Huntington's Disease Network's REGISTRY 82
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 80
A case study of a ’policy network’ for the promotion of migrant health: the Italian Society of Migration Medicine (SIMM) 79
No evidence of association between BDNF gene variants and age at onset of Huntington disease 79
Predicting Response to Neoadjuvant Therapy in Colorectal Cancer Patients the Role of Messenger-and Micro-RNA Profiling 76
Health technology assessment of genetic testing for susceptibility to venous thromboembolism in Italy - Chapter 5.2: Genetic testing for inherited thrombophilia: the patients' perspective 75
Is Hardikar syndrome distinct from Kabuki (Niikawa-Kuroki) syndrome? A case with a novel mutation in the MLL2 gene 75
Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions 75
Genetic testing of Huntington disease 71
Strategie formative sui medici potenziali prescrittori per il corretto uso dei test genomici: l'esperienza italiana 70
Noi e altri: identità e differenze al confine tra scienze diverse (libro+DVD) 69
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 69
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 68
La Genomica in Sanità Pubblica 67
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 61
I controlli alla frontiera - La frontiera dei controlli. Controlli sanitari all’arrivo e percorsi di tutela per i migranti ospiti nei centri di accoglienza 60
Italian guideline on ‘‘health checks and protection pathways for migrants on arrival and while hosted in reception centres’’ 54
Opinion about genetic information, prenatal diagnosis and pregnancy termination; Analysis in a sample of Italian women 52
Gene symbol: VHL. Disease: von Hippel-Lindau syndrome 51
Naringerin as candidate drug against SARS-CoV-2: The role for TPC2 genomic variants in COVID-19 49
Glutamate hypothesis of schizophrenia: No evidence that the N-Methyl-D-Aspartate receptor 2B gene (GRIN2B) is associated with susceptibility to schizophrenia 48
Genetic counselling and testing for inherited dementia: single-centre evaluation of the consensus Italian DIAfN protocol 44
Health right across the Mediterranean - tackling inequalities and building capacities 40
Disclosure of Genetic Risk Factors for Alzheimer’s Disease to Cognitively Healthy Individuals—From Current Practice towards a Personalised Medicine Scenario 39
Genetic variants of the human host influencing the coronavirus-associated phenotypes (SARS, MERS and COVID-19): rapid systematic review and field synopsis 35
A novel SPAST gene splicing variant (c.1617-2A>C) in a heterozygous carrier with hereditary spastic paraplegia 33
Cognitive decline in Huntington's disease expansion gene carriers 32
Provision of genetic testing for inherited thrombophilia in Italy 30
Genetic testing for inherited thrombophilia: The patients' perspective 27
Psychological Impact of Predictive Genetic Testing for Inherited Alzheimer Disease and Frontotemporal Dementia: The IT-DIAfN Protocol 26
Totale 11.276
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Categoria #
all - tutte 37.268
article - articoli 33.316
book - libri 218
conference - conferenze 1.074
curatela - curatele 792
other - altro 855
patent - brevetti 0
selected - selezionate 0
volume - volumi 1.013
Totale 74.536
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021427 0 0 0 0 0 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
2025/20261.348 362 86 189 275 351 85 0 0 0 0 0 0
Totale 11.316