IRIS Institutional Research Information System - AIR Archivio Istituzionale della Ricerca

SPENA, SILVIA
 Distribuzione geografica
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Continente #
EU - Europa 3.213
NA - Nord America 2.405
AS - Asia 2.155
Continente sconosciuto - Info sul continente non disponibili 322
SA - Sud America 199
AF - Africa 49
OC - Oceania 10
Totale 8.353
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Nazione #
US - Stati Uniti d'America 2.266
GB - Regno Unito 1.278
CN - Cina 674
IT - Italia 617
SG - Singapore 573
SE - Svezia 274
BD - Bangladesh 238
DE - Germania 229
RU - Federazione Russa 200
HK - Hong Kong 195
VN - Vietnam 159
BR - Brasile 143
FR - Francia 117
CA - Canada 108
IN - India 101
NL - Olanda 92
UA - Ucraina 77
DK - Danimarca 72
FI - Finlandia 71
IE - Irlanda 52
KR - Corea 42
JP - Giappone 40
TR - Turchia 40
ES - Italia 35
ID - Indonesia 30
EU - Europa 29
BE - Belgio 28
CO - Colombia 19
CI - Costa d'Avorio 13
MX - Messico 13
AR - Argentina 11
PL - Polonia 10
ZA - Sudafrica 10
AT - Austria 8
AU - Australia 8
CZ - Repubblica Ceca 8
IQ - Iraq 8
IR - Iran 8
CL - Cile 7
EC - Ecuador 7
RO - Romania 7
SA - Arabia Saudita 7
CH - Svizzera 6
EG - Egitto 6
KE - Kenya 6
MY - Malesia 6
PH - Filippine 6
BG - Bulgaria 4
GT - Guatemala 4
NO - Norvegia 4
UY - Uruguay 4
UZ - Uzbekistan 4
VE - Venezuela 4
AZ - Azerbaigian 3
GR - Grecia 3
HN - Honduras 3
KZ - Kazakistan 3
LT - Lituania 3
LU - Lussemburgo 3
MA - Marocco 3
NG - Nigeria 3
PT - Portogallo 3
TN - Tunisia 3
TW - Taiwan 3
BY - Bielorussia 2
DZ - Algeria 2
JM - Giamaica 2
JO - Giordania 2
KG - Kirghizistan 2
NP - Nepal 2
NZ - Nuova Zelanda 2
PE - Perù 2
PR - Porto Rico 2
PY - Paraguay 2
SV - El Salvador 2
TT - Trinidad e Tobago 2
XK - ???statistics.table.value.countryCode.XK??? 2
AE - Emirati Arabi Uniti 1
AL - Albania 1
BB - Barbados 1
BH - Bahrain 1
BN - Brunei Darussalam 1
CG - Congo 1
EE - Estonia 1
ET - Etiopia 1
GI - Gibilterra 1
HR - Croazia 1
IL - Israele 1
IS - Islanda 1
LC - Santa Lucia 1
LV - Lettonia 1
MD - Moldavia 1
MK - Macedonia 1
OM - Oman 1
PA - Panama 1
PK - Pakistan 1
QA - Qatar 1
RS - Serbia 1
SC - Seychelles 1
SK - Slovacchia (Repubblica Slovacca) 1
Totale 8.060
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Città #
Southend 1.196
Singapore 345
Ashburn 260
Chandler 189
Hong Kong 175
Milan 155
Beijing 136
Wilmington 101
San Jose 95
Seattle 90
Los Angeles 83
Fairfield 73
Santa Clara 72
Ann Arbor 71
Council Bluffs 63
Princeton 63
Dallas 52
Dublin 52
Jacksonville 49
Woodbridge 46
Dearborn 44
Hanover 42
Ho Chi Minh City 42
Toronto 42
Houston 41
Rome 41
Bengaluru 39
New York 39
Hanoi 38
Nanjing 37
Frankfurt am Main 33
Shanghai 33
Helsinki 32
Boardman 31
Moscow 29
Buffalo 28
Cambridge 28
Ottawa 28
Redwood City 27
Des Moines 26
Jinan 26
Lauterbourg 26
Guangzhou 25
Mountain View 25
Redmond 24
Hefei 23
Serra 23
Munich 21
Phoenix 21
Tokyo 21
Hangzhou 20
Jakarta 18
São Paulo 18
Tianjin 18
Brussels 16
Chicago 16
Somerville 16
Fuzhou 15
Hebei 15
Sakarya 15
Berlin 14
Bühl 14
Naples 14
Shenyang 14
Bogotá 13
Chennai 13
Turin 13
Abidjan 12
Andover 12
Cangzhou 12
Wuhan 12
Washington 11
Bologna 10
Changsha 10
Da Nang 10
Waanrode 10
London 9
Nanchang 9
San Diego 9
The Dalles 9
Columbus 8
Dong Ket 8
Madrid 8
Pavia 8
Turku 8
Zhengzhou 8
Amsterdam 7
Düsseldorf 7
Fremont 7
Medford 7
Montreal 7
Mumbai 7
Nuremberg 7
Palermo 7
Rio de Janeiro 7
Taizhou 7
Biên Hòa 6
Carini 6
Kunming 6
Mannheim 6
Totale 4.840
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Nome #
Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome 694
Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bbeta-chain gene causing activation of cryptic splice sites 393
Genetic Polymorphisms of Functional Candidate Genes and Recurrent Acute Otitis Media With or Without Tympanic Membrane Perforation 357
Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene 318
NUOVE MUTAZIONI PUNTIFORMI E DELEZIONI ESONICHE DEL GENE EP300 IN PAZIENTI CON SINDROME DI RUBINSTEIN-TAYBI 307
DELEZIONI IN 16p13.2 COINVOLGENTI TOTALMENTE O PARZIALMENTE IL GENE CREBBP IN PAZIENTI CON SINDROME DI RUBINSTEIN-TAYBI 303
Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi Syndrome patients 288
Prediction of Factor VIII inhibitor development in the SIPPET cohort by mutational analysis and Factor VIII antigen measurement 287
Dual role of G-runs and hnRNP F in the regulation of a mutation-activated pseudoexon in the fibrinogen gamma-chain transcript 276
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome : an update of the CREBBP deletion repertoire 276
Congenital afibrinogenemia : intracellular retention of fibrinogen due to a novel W437G mutation in the fibrinogen Bbeta-chain gene 269
Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia 265
NEW POINTMUTATIONS AND EXON DELETIONS OF THE EP300 GENE IN PATIENTS WITH RUBINSTEIN-TAYBI SYNDROME 264
APPROCCI TECNOLOGICI MULTIPLI PER L'IDENTIFICAZIONE DI MUTAZIONI E MECCANISMI PATOGENETICI IN PAZIENTI CON SINDROME DI RUBINSTEIN-TAYBI 251
Genetic polymorphisms and the development of invasive bacterial infections in children 245
Mutational Repertoire in the SIPPET Cohort and Prediction of FVIII Inhibitor Risk 243
Congenital afibrinogenaemia caused by uniparental isodisomy of chromosome 4 containing a novel 15-kb deletion involving fibrinogen Aalpha-chain gene 226
The Influence of F8 Mutation and Thrombophilic Genetic Markers on Bleeding Phenotype of Patients Affected with Severe Hemophilia A in the SIPPET Cohort 222
Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen A alpha-chain gene are not associated with the decay of the mutant mRNAs 217
Congenital hypofibrinogenemia : characterization of two missense mutations affecting fibrinogen assembly and secretion 215
Analysis of the structural effects of four novel and a previously known mutations causing factor XI deficiency 214
Impact of genetic polymorphisms on paediatric atopic dermatitis 210
Molecular genetics of quantitative fibrinogen disorders 200
Uniparental disomy of chromosome 4 including a novel deletion in the FGA gene that causes congenital afibrinogenemia 197
Development of a specific monoclonal antibody to detect male cells expressing the rps4y1 protein 190
Characterization of the genetic basis of FXI deficiency in fourteen unrelated patients 183
Cryptic splice site usage in exon 7 of the human fibrinogen Bbeta-chain gene is regulated by a naturally silent SF2/ASF binding site within this exon 175
Molecular characterization of two novel mutations causing factor XI deficiency : a splicing defect and a missense mutation responsible for a CRM+ defect 175
Missense or splicing mutation? The case of a fibrinogen Bβ-chain mutation causing severe hypofibrinogenemia 165
Pseudo-exon activation caused by a deep-intronic mutation in the fibrinogen gamma-chain gene as a novel mechanism for congenital afibrinogenaemia 154
Ultra-Rare Syndromes : the Example of Rubinstein-Taybi Syndrome 150
Gender equity in hemophilia: need for healthcare, familial, and societal advocacy 147
Worldwide SARS-CoV-2 haplotype distribution in early pandemic 98
Genetic variants at the chromosomal region 2q21.3 underlying inhibitor development in patients with severe haemophilia A 76
null 72
Rapid genomic analysis for the early identification of complement abnormalities in adults with transplant associated thrombotic microangiopathy 21
Differential expression of miR-128 in memory T cells of patients with severe hemophilia A with and without inhibitors 7
null 3
Totale 8.353
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Categoria #
all - tutte 20.433
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 20.433
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022538 51 17 24 25 32 30 22 28 70 95 43 101
2022/2023670 84 91 53 83 39 107 34 47 52 27 28 25
2023/2024443 28 30 26 28 98 46 20 26 21 25 41 54
2024/20251.024 40 93 23 101 86 51 35 114 73 100 75 233
2025/20262.212 219 111 160 150 200 126 300 95 178 152 242 279
2026/2027158 158 0 0 0 0 0 0 0 0 0 0 0
Totale 8.353