ArTS Archivio della ricerca di Trieste

D'ADAMO, ADAMO PIO
 Distribuzione geografica
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Continente #
NA - Nord America 13.154
EU - Europa 7.715
AS - Asia 6.188
SA - Sud America 1.104
Continente sconosciuto - Info sul continente non disponibili 531
AF - Africa 173
OC - Oceania 34
Totale 28.899
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Nazione #
US - Stati Uniti d'America 12.711
PL - Polonia 2.017
SG - Singapore 1.963
IT - Italia 1.602
CN - Cina 1.357
BR - Brasile 716
SE - Svezia 708
DE - Germania 629
HK - Hong Kong 588
VN - Vietnam 572
UA - Ucraina 569
BD - Bangladesh 416
FR - Francia 376
FI - Finlandia 317
KR - Corea 284
TR - Turchia 268
GB - Regno Unito 265
RU - Federazione Russa 258
MX - Messico 216
IN - India 177
NL - Olanda 177
CA - Canada 137
ES - Italia 131
IE - Irlanda 129
BG - Bulgaria 123
JP - Giappone 112
CO - Colombia 99
AR - Argentina 98
AT - Austria 74
CH - Svizzera 69
ID - Indonesia 65
PE - Perù 60
CL - Cile 59
SA - Arabia Saudita 53
BE - Belgio 52
TH - Thailandia 49
MA - Marocco 39
CZ - Repubblica Ceca 36
IQ - Iraq 32
ZA - Sudafrica 32
PH - Filippine 31
AU - Australia 30
IL - Israele 29
GR - Grecia 28
MY - Malesia 28
EC - Ecuador 27
TW - Taiwan 27
PK - Pakistan 23
PT - Portogallo 20
LT - Lituania 19
SN - Senegal 19
TN - Tunisia 18
EG - Egitto 15
PY - Paraguay 15
QA - Qatar 15
DK - Danimarca 14
IR - Iran 14
CR - Costa Rica 13
HN - Honduras 13
JM - Giamaica 13
KE - Kenya 13
RS - Serbia 13
VE - Venezuela 13
AL - Albania 12
HU - Ungheria 12
JO - Giordania 12
NI - Nicaragua 12
AE - Emirati Arabi Uniti 11
HR - Croazia 11
NG - Nigeria 11
UZ - Uzbekistan 10
BO - Bolivia 9
GT - Guatemala 9
KZ - Kazakistan 9
NO - Norvegia 9
EU - Europa 8
MD - Moldavia 7
PS - Palestinian Territory 7
RO - Romania 7
SI - Slovenia 7
SV - El Salvador 7
OM - Oman 6
UY - Uruguay 6
DZ - Algeria 5
NP - Nepal 5
SK - Slovacchia (Repubblica Slovacca) 5
AZ - Azerbaigian 4
BA - Bosnia-Erzegovina 4
BY - Bielorussia 4
ET - Etiopia 4
KH - Cambogia 4
PA - Panama 4
AO - Angola 3
EE - Estonia 3
NZ - Nuova Zelanda 3
BB - Barbados 2
BS - Bahamas 2
DO - Repubblica Dominicana 2
GD - Grenada 2
GE - Georgia 2
Totale 28.325
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Città #
Warsaw 1.865
Ashburn 1.244
Woodbridge 1.206
Singapore 1.153
Fairfield 1.001
Houston 888
Ann Arbor 854
San Jose 573
Chandler 564
Hong Kong 561
Jacksonville 525
Wilmington 480
Seattle 456
Cambridge 340
Beijing 332
Trieste 276
Council Bluffs 270
Seoul 248
Hefei 226
Princeton 224
Dallas 216
Chicago 203
Boardman 201
Munich 184
Izmir 180
Los Angeles 179
Columbus 177
Ho Chi Minh City 158
Milan 158
Dearborn 151
Hanoi 142
Santa Clara 131
Dublin 130
Moscow 129
Lauterbourg 122
Sofia 122
Zgierz 118
New York 117
Buffalo 103
Rome 102
São Paulo 94
Helsinki 91
The Dalles 87
Frankfurt am Main 84
Shanghai 56
London 53
Nuremberg 51
Phoenix 50
Tokyo 50
Düsseldorf 47
Guangzhou 44
Lima 42
Bogotá 41
Paris 40
San Diego 40
Kunming 35
Santiago 35
Bangkok 34
Dong Ket 34
Mexico City 33
Nanjing 33
Toronto 33
Vienna 33
Amsterdam 30
Atlanta 29
Bologna 29
Brno 29
Brussels 29
Casablanca 29
Montreal 28
Rio de Janeiro 28
Des Moines 27
Redwood City 27
Bern 26
Da Nang 26
Ankara 25
Barcelona 25
Salt Lake City 25
Verona 25
Washington 25
Miano 24
Almere Stad 23
Denver 23
Haiphong 23
Istanbul 23
Naples 23
Redondo Beach 23
Kuala Lumpur 22
Lappeenranta 22
Riyadh 22
Bremen 21
Orem 21
Boston 20
Brooklyn 20
Brasília 19
Buenos Aires 19
Dakar 19
Norwalk 19
Porto Alegre 19
Bengaluru 18
Totale 18.334
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Nome #
Congenital lung malformations 2.184
Carbamazepine-induced thrombocytopenic purpura in a child: Insights from a genomic analysis 549
1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function 474
Rare coding variants and X-linked loci associated with age at menarche 457
Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways 430
Genetic determinants for methotrexate response in juvenile idiopathic arthritis 423
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 423
A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy 398
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function 384
Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss 360
Modulation of genetic associations with serum urate levels by body-mass-index in humans 350
Dysregulation of Aquaporin-3 and Glyceryl Glucoside Restoring Action in Hidradenitis Suppurativa in Vitro Models 329
Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity. 329
Variation in the bitter-taste receptor gene TAS2R38, and adiposity in a genetically isolated population in Southern Italy. 316
Impact of methylmercury and other heavy metals exposure on neurocognitive function in children of 7 years old: study protocol of the follow-up 315
TBL1Y: a new gene involved in syndromic hearing loss 309
MYO5B Gene Mutations: A Not Negligible Cause of Intrahepatic Cholestasis of Infancy with Normal Gamma-glutamyl Transferase Phenotype 299
Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population. 298
A Novel CRYBB2 Missense Mutation Causing Congenital Autosomal Dominant Cataract in an Italian Family. 287
Heterogeneity in Circulating Tumor Cells: The Relevance of the Stem-Cell Subset 272
Evidence of Inbreeding Depression on Human Height 270
Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria. 268
A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss 262
Genetic landscape of populations along the Silk Road: admixture and migration patterns 259
Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation 258
Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability 256
Opioid Resistance Associated with CYP3A4 Hyperactivity and COMT Polymorphism in an Oncological Patient 255
Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair 254
Association analysis of bitter receptor genes in five isolated populations identifies a significant correlation between TAS2R43 variants and coffee liking. 251
Exome analysis of HIV patients submitted to dendritic cells therapeutic vaccine reveals an association ofCNOT1gene with response to the treatment 243
Pharmacogenetics and induction/consolidation therapy toxicities in acute lymphoblastic leukemia patients treated with AIEOP-BFM ALL 2000 protocol 243
Autosomal recessive stickler syndrome due to a loss of function mutation in theCOL9A3gene 242
Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations. 235
Frequency of hearing loss in a series of rural communities of five developing countries located along the Silk Road 227
Age-related hearing loss in four Italian genetic isolates: an epidemiological study. 226
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization 221
Phospholipase C-β3 is a key modulator of IL-8 expression in cystic fibrosis bronchial epithelial cells. 218
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant. 218
Genome-wide meta-analysis of common variant differences between men and women 216
A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly 215
New gene functions in megakaryopoiesis and platelet formation 213
MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions. 207
A new locus (DFNA47) for autosomal dominant non-syndromic inherited hearing loss maps to 9p21-22 in a large Italian family. 202
Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection 201
Maps of open chromatin highlight cell type-restricted patterns of regulatory sequence variation at hematological trait loci. 196
Identification of a Novel Mutation in the Myosin VIIA Motor Domain in a Family with Autosomal Dominant Hearing Loss (DFNA11) 195
Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family. 194
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. 193
Seventy-five genetic loci influencing the human red blood cell. 192
Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein. 190
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy 188
Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population. 187
Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase 187
Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population. 186
Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability. 186
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways 185
Genetic studies of body mass index yield new insights for obesity biology 185
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. 184
Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index. 181
Deep Proteomics Analysis Unravels the Molecular Signatures of Tonsillar B Cells in PFAPA and OSAS in the Pediatric Population 179
A loss-of-function NCSTN mutation associated with familial Dowling Degos disease and hidradenitis suppurativa 179
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. 179
Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways. 179
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in Apoptosis Inducing Factor 1 179
Benign hereditary chorea and deletions outside NKX2-1 : What's the role of MBIP? 179
Parsing the differences in affected with LHON: Genetic versus environmental triggers of disease conversion 179
Rare and low-frequency coding variants alter human adult height 178
What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study 177
Genetic structure of Europeans: a view from the North-East. 177
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche 177
Incidence of Congenital Clubfoot: Preliminary Data from Italian CeDAP Registry 177
Cystinuria type I: identification of eight new mutations in SLC3A1. 175
Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus. 175
A novel autosomal dominant non-syndromic deafness locus (DFNA48) maps to 12q13-q14 in a large Italian family. 174
Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome 174
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion 174
A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia 170
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. 169
Variation of hemoglobin levels in normal Italian populations from genetic isolates. 168
Corrigendum: 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function 167
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. 166
Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity 165
The type 2 diabetes associated rs7903146 T allele within TCF7L2 is significantly under-represented in Hereditary Multiple Exostoses: Insights into pathogenesis 164
Influence of age, sex and ethnicity on platelet count in five Italian geographic isolates: mild thrombocytopenia may be physiological. 163
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure 163
Searching for genetic modifiers of Leber's hereditary optic neuropathy penetrance 163
Dental anomalies as a possible clue of 1p36 deletion syndrome due to germline mosaicism: A case report 163
Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis 163
A rare loss-of-function genetic mutation suggest a role of dermcidin deficiency in hidradenitis suppurativa pathogenesis 161
Neuron-Derived Extracellular Vesicles miRNA Profiles Identify Children Who Experience Adverse Events after Ketamine Administration for Procedural Sedation 161
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge 161
FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency 157
Metabonomics and population studies: age-related amino acids excretion and inferring networks through the study of urine samples in two Italian isolated populations. 157
Systematic analysis of factors that improve homologous direct repair (HDR) efficiency in CRISPR/Cas9 technique 156
High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO) 155
Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage? 155
Identification of a New Mutation in RSK2, the Gene for Coffin–Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes 154
Genomic profiling by whole-genome single nucleotide polymorphism arrays in Wilms tumor and association with relapse 153
A GWAS sequence variant for platelet volume marks an alternative DNM3 promoter in megakaryocytes near a MEIS1 binding site. 152
Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders 150
Totale 24.542
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Categoria #
all - tutte 78.621
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 78.621
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.184 0 0 66 119 43 109 58 59 166 137 101 326
2022/20231.893 206 240 136 244 188 350 22 143 212 15 97 40
2023/20241.173 69 74 63 63 127 121 207 235 23 24 67 100
2024/20253.292 58 113 378 240 284 360 246 220 437 317 332 307
2025/20269.347 710 511 624 667 592 785 1.199 479 1.049 1.254 821 656
2026/20271.581 540 636 405 0 0 0 0 0 0 0 0 0
Totale 28.899