ArTS Archivio della ricerca di Trieste

D'ADAMO, ADAMO PIO
 Distribuzione geografica
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Continente #
NA - Nord America 11.486
EU - Europa 7.031
AS - Asia 5.590
SA - Sud America 932
AF - Africa 165
OC - Oceania 26
Continente sconosciuto - Info sul continente non disponibili 9
Totale 25.239
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Nazione #
US - Stati Uniti d'America 11.258
PL - Polonia 2.006
SG - Singapore 1.953
CN - Cina 1.279
IT - Italia 1.185
SE - Svezia 709
BR - Brasile 642
HK - Hong Kong 577
DE - Germania 574
UA - Ucraina 569
VN - Vietnam 568
FR - Francia 340
FI - Finlandia 312
KR - Corea 281
RU - Federazione Russa 259
TR - Turchia 249
GB - Regno Unito 223
NL - Olanda 160
IN - India 143
IE - Irlanda 130
MX - Messico 126
BG - Bulgaria 123
ES - Italia 108
AR - Argentina 85
JP - Giappone 77
CA - Canada 73
AT - Austria 70
BD - Bangladesh 65
CH - Svizzera 60
CO - Colombia 55
ID - Indonesia 55
PE - Perù 51
SA - Arabia Saudita 42
CL - Cile 38
BE - Belgio 37
MA - Marocco 37
IQ - Iraq 33
ZA - Sudafrica 31
CZ - Repubblica Ceca 30
TH - Thailandia 30
PH - Filippine 29
MY - Malesia 28
IL - Israele 27
TW - Taiwan 24
EC - Ecuador 23
AU - Australia 22
PK - Pakistan 22
GR - Grecia 20
SN - Senegal 20
TN - Tunisia 17
LT - Lituania 16
EG - Egitto 15
PY - Paraguay 15
QA - Qatar 15
IR - Iran 14
KE - Kenya 13
JO - Giordania 12
VE - Venezuela 12
AE - Emirati Arabi Uniti 11
DK - Danimarca 11
HR - Croazia 11
NG - Nigeria 11
PT - Portogallo 11
AL - Albania 10
UZ - Uzbekistan 10
HU - Ungheria 9
EU - Europa 8
KZ - Kazakistan 8
NO - Norvegia 7
OM - Oman 6
RO - Romania 6
RS - Serbia 6
DZ - Algeria 5
MD - Moldavia 5
SK - Slovacchia (Repubblica Slovacca) 5
UY - Uruguay 5
AZ - Azerbaigian 4
BO - Bolivia 4
BY - Bielorussia 4
CR - Costa Rica 4
JM - Giamaica 4
NP - Nepal 4
PA - Panama 4
AO - Angola 3
EE - Estonia 3
KH - Cambogia 3
NZ - Nuova Zelanda 3
PS - Palestinian Territory 3
BA - Bosnia-Erzegovina 2
DO - Repubblica Dominicana 2
ET - Etiopia 2
GE - Georgia 2
GT - Guatemala 2
HN - Honduras 2
KG - Kirghizistan 2
KW - Kuwait 2
LB - Libano 2
LK - Sri Lanka 2
LU - Lussemburgo 2
MK - Macedonia 2
Totale 25.199
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Città #
Warsaw 1.865
Woodbridge 1.206
Singapore 1.146
Ashburn 1.027
Fairfield 1.001
Houston 876
Ann Arbor 853
Chandler 573
Hong Kong 557
Jacksonville 518
San Jose 489
Wilmington 480
Seattle 450
Cambridge 336
Beijing 315
Trieste 261
Seoul 249
Hefei 226
Princeton 224
Boardman 200
Chicago 188
Dallas 187
Munich 181
Izmir 178
Ho Chi Minh City 154
Dearborn 150
Hanoi 142
Los Angeles 142
Dublin 131
Moscow 129
Columbus 124
Lauterbourg 123
Sofia 122
Zgierz 119
Santa Clara 101
Milan 95
Helsinki 91
The Dalles 87
Frankfurt am Main 81
São Paulo 81
Buffalo 79
New York 72
Council Bluffs 57
Rome 54
Shanghai 52
London 48
Düsseldorf 47
Tokyo 43
Guangzhou 40
Nuremberg 40
San Diego 40
Lima 38
Dong Ket 34
Vienna 34
Nanjing 33
Paris 32
Kunming 29
Casablanca 27
Redwood City 27
Bern 26
Da Nang 26
Des Moines 26
Brussels 25
Almere Stad 23
Amsterdam 23
Brno 23
Haiphong 23
Kuala Lumpur 23
Mexico City 23
Montreal 23
Phoenix 23
Redondo Beach 23
Santiago 23
Lappeenranta 22
Rio de Janeiro 22
Bremen 21
Denver 21
Verona 21
Bangkok 20
Dakar 20
Riyadh 20
Ankara 19
Barcelona 19
Bogotá 19
Salt Lake City 19
Bengaluru 18
Falls Church 18
Mestre 18
Norwalk 18
Orem 18
Pignone 18
Washington 18
Buenos Aires 17
Chennai 17
Istanbul 17
Johannesburg 17
Bologna 16
Dhaka 16
Jakarta 16
Stockholm 16
Totale 17.118
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Nome #
Congenital lung malformations 1.239
Carbamazepine-induced thrombocytopenic purpura in a child: Insights from a genomic analysis 533
1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function 465
Rare coding variants and X-linked loci associated with age at menarche 437
Brain-derived neurotrophic factor serum levels in genetically isolated populations: Gender-specific association with anxiety disorder subtypes but not with anxiety levels or Val66Met polymorphism 414
Genetic determinants for methotrexate response in juvenile idiopathic arthritis 410
A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy 388
Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways 387
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function 356
Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss 348
Modulation of genetic associations with serum urate levels by body-mass-index in humans 334
Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity. 314
Variation in the bitter-taste receptor gene TAS2R38, and adiposity in a genetically isolated population in Southern Italy. 302
Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population. 278
A Novel CRYBB2 Missense Mutation Causing Congenital Autosomal Dominant Cataract in an Italian Family. 278
Dysregulation of Aquaporin-3 and Glyceryl Glucoside Restoring Action in Hidradenitis Suppurativa in Vitro Models 275
MYO5B Gene Mutations: A Not Negligible Cause of Intrahepatic Cholestasis of Infancy with Normal Gamma-glutamyl Transferase Phenotype 269
TBL1Y: a new gene involved in syndromic hearing loss 257
Evidence of Inbreeding Depression on Human Height 254
A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss 251
Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria. 248
Genetic landscape of populations along the Silk Road: admixture and migration patterns 248
Heterogeneity in Circulating Tumor Cells: The Relevance of the Stem-Cell Subset 248
Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation 244
Opioid Resistance Associated with CYP3A4 Hyperactivity and COMT Polymorphism in an Oncological Patient 244
Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability 243
Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair 240
Association analysis of bitter receptor genes in five isolated populations identifies a significant correlation between TAS2R43 variants and coffee liking. 238
Impact of methylmercury and other heavy metals exposure on neurocognitive function in children of 7 years old: study protocol of the follow-up 238
Exome analysis of HIV patients submitted to dendritic cells therapeutic vaccine reveals an association ofCNOT1gene with response to the treatment 232
Pharmacogenetics and induction/consolidation therapy toxicities in acute lymphoblastic leukemia patients treated with AIEOP-BFM ALL 2000 protocol 227
Autosomal recessive stickler syndrome due to a loss of function mutation in theCOL9A3gene 226
Age-related hearing loss in four Italian genetic isolates: an epidemiological study. 211
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant. 210
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization 209
Phospholipase C-β3 is a key modulator of IL-8 expression in cystic fibrosis bronchial epithelial cells. 206
A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly 203
Frequency of hearing loss in a series of rural communities of five developing countries located along the Silk Road 202
New gene functions in megakaryopoiesis and platelet formation 200
A new locus (DFNA47) for autosomal dominant non-syndromic inherited hearing loss maps to 9p21-22 in a large Italian family. 190
MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions. 189
Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection 187
Identification of a Novel Mutation in the Myosin VIIA Motor Domain in a Family with Autosomal Dominant Hearing Loss (DFNA11) 185
Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations. 181
Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein. 179
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. 178
Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase 178
Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population. 177
Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family. 176
Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population. 175
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in Apoptosis Inducing Factor 1 175
Benign hereditary chorea and deletions outside NKX2-1 : What's the role of MBIP? 175
Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the FERROPORTIN 1 gene (SLC11A3) in a large French-Canadian family. 172
Rare and low-frequency coding variants alter human adult height 172
Parsing the differences in affected with LHON: Genetic versus environmental triggers of disease conversion 172
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy 170
Cystinuria type I: identification of eight new mutations in SLC3A1. 169
Genetic studies of body mass index yield new insights for obesity biology 168
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche 168
Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways. 167
Genome-wide meta-analysis of common variant differences between men and women 167
Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome 166
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways 166
Seventy-five genetic loci influencing the human red blood cell. 166
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. 165
Genetic structure of Europeans: a view from the North-East. 164
A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia 164
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion 164
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. 163
Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index. 163
Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus. 162
Variation of hemoglobin levels in normal Italian populations from genetic isolates. 161
A novel autosomal dominant non-syndromic deafness locus (DFNA48) maps to 12q13-q14 in a large Italian family. 160
Dental anomalies as a possible clue of 1p36 deletion syndrome due to germline mosaicism: A case report 159
Searching for genetic modifiers of Leber's hereditary optic neuropathy penetrance 157
The type 2 diabetes associated rs7903146 T allele within TCF7L2 is significantly under-represented in Hereditary Multiple Exostoses: Insights into pathogenesis 157
Maps of open chromatin highlight cell type-restricted patterns of regulatory sequence variation at hematological trait loci. 156
Influence of age, sex and ethnicity on platelet count in five Italian geographic isolates: mild thrombocytopenia may be physiological. 154
Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage? 153
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge 153
FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency 152
Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity 152
Incidence of Congenital Clubfoot: Preliminary Data from Italian CeDAP Registry 150
Metabonomics and population studies: age-related amino acids excretion and inferring networks through the study of urine samples in two Italian isolated populations. 149
Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis 149
Deep Proteomics Analysis Unravels the Molecular Signatures of Tonsillar B Cells in PFAPA and OSAS in the Pediatric Population 147
Genomic profiling by whole-genome single nucleotide polymorphism arrays in Wilms tumor and association with relapse 147
Systematic analysis of factors that improve homologous direct repair (HDR) efficiency in CRISPR/Cas9 technique 146
High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO) 143
Detection of epidermal thickening in GJB2 carriers with epidermal US. 142
Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability. 139
Corrigendum: 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function 139
What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study 138
A loss-of-function NCSTN mutation associated with familial Dowling Degos disease and hidradenitis suppurativa 138
A rare loss-of-function genetic mutation suggest a role of dermcidin deficiency in hidradenitis suppurativa pathogenesis 138
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure 138
Identification of a New Mutation in RSK2, the Gene for Coffin–Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes 137
Unraveling the Epigenetic Tapestry: Decoding the Impact of Epigenetic Modifications in Hidradenitis Suppurativa Pathogenesis 136
Could the MED13 mutations manifest as a Kabuki-like syndrome? 136
Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature 135
Totale 21.880
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Categoria #
all - tutte 69.019
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 69.019
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021474 0 0 0 0 0 0 0 0 0 235 67 172
2021/20221.317 49 84 66 119 43 109 58 59 166 137 101 326
2022/20231.918 208 243 140 248 189 355 22 146 213 15 99 40
2023/20241.186 69 75 64 63 132 122 207 237 25 24 67 101
2024/20253.309 58 113 378 241 285 365 246 221 441 319 332 310
2025/20267.718 710 511 625 667 596 792 1.207 482 1.059 1.069 0 0
Totale 25.744