ArTS Archivio della ricerca di Trieste

SAVOIA, ANNA
 Distribuzione geografica
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Continente #
NA - Nord America 14.606
EU - Europa 7.024
AS - Asia 6.231
SA - Sud America 782
AF - Africa 126
OC - Oceania 19
Continente sconosciuto - Info sul continente non disponibili 14
Totale 28.802
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Nazione #
US - Stati Uniti d'America 14.451
SG - Singapore 2.292
PL - Polonia 2.036
CN - Cina 1.674
IT - Italia 1.021
UA - Ucraina 965
SE - Svezia 760
BR - Brasile 622
VN - Vietnam 556
HK - Hong Kong 551
FI - Finlandia 401
FR - Francia 374
KR - Corea 350
GB - Regno Unito 265
RU - Federazione Russa 222
TR - Turchia 222
DE - Germania 217
NL - Olanda 188
IE - Irlanda 185
BG - Bulgaria 171
BD - Bangladesh 169
IN - India 127
CA - Canada 70
AR - Argentina 57
BE - Belgio 56
MA - Marocco 51
MX - Messico 50
IQ - Iraq 42
JP - Giappone 40
EC - Ecuador 32
ES - Italia 32
ZA - Sudafrica 28
AT - Austria 27
CH - Svizzera 25
PK - Pakistan 22
VE - Venezuela 22
PH - Filippine 18
ID - Indonesia 17
KE - Kenya 17
TH - Thailandia 17
SA - Arabia Saudita 15
AU - Australia 14
CL - Cile 14
NP - Nepal 13
UZ - Uzbekistan 13
CZ - Repubblica Ceca 12
GR - Grecia 12
IL - Israele 12
AE - Emirati Arabi Uniti 11
JO - Giordania 11
LT - Lituania 11
CO - Colombia 10
EU - Europa 10
TW - Taiwan 10
PY - Paraguay 9
RO - Romania 9
PE - Perù 8
PT - Portogallo 8
SN - Senegal 8
AL - Albania 7
KZ - Kazakistan 7
MY - Malesia 7
CR - Costa Rica 6
JM - Giamaica 6
TT - Trinidad e Tobago 6
DK - Danimarca 5
EG - Egitto 5
LK - Sri Lanka 5
UY - Uruguay 5
AZ - Azerbaigian 4
LB - Libano 4
NG - Nigeria 4
NZ - Nuova Zelanda 4
PA - Panama 4
PS - Palestinian Territory 4
BA - Bosnia-Erzegovina 3
HN - Honduras 3
QA - Qatar 3
SY - Repubblica araba siriana 3
TN - Tunisia 3
A2 - ???statistics.table.value.countryCode.A2??? 2
BB - Barbados 2
BO - Bolivia 2
BS - Bahamas 2
CG - Congo 2
DZ - Algeria 2
ET - Etiopia 2
GE - Georgia 2
HU - Ungheria 2
IR - Iran 2
LA - Repubblica Popolare Democratica del Laos 2
MK - Macedonia 2
NI - Nicaragua 2
RS - Serbia 2
AO - Angola 1
BH - Bahrain 1
BN - Brunei Darussalam 1
BW - Botswana 1
BY - Bielorussia 1
CY - Cipro 1
Totale 28.784
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Città #
Warsaw 1.869
Singapore 1.403
Woodbridge 1.360
Fairfield 1.310
Ashburn 1.292
Ann Arbor 1.164
Houston 1.027
Chandler 910
Jacksonville 873
Wilmington 678
San Jose 627
Hong Kong 539
Seattle 514
Beijing 428
Hefei 413
Cambridge 388
Seoul 344
Princeton 332
Boardman 292
Chicago 241
Dallas 215
Dearborn 208
Dublin 175
Izmir 175
Sofia 168
Ho Chi Minh City 167
Los Angeles 166
Columbus 158
Zgierz 156
Lauterbourg 151
Trieste 142
Hanoi 128
Moscow 116
Buffalo 114
Milan 113
Council Bluffs 103
Santa Clara 99
The Dalles 93
San Diego 92
Helsinki 86
New York 75
São Paulo 73
Frankfurt am Main 58
Verona 54
Düsseldorf 49
Shanghai 46
Munich 45
Casablanca 44
Brussels 43
Des Moines 42
Jinan 36
Nanjing 35
Kunming 31
Da Nang 30
Norwalk 29
Rome 29
Washington 29
Tokyo 27
Redondo Beach 26
Pune 25
Falls Church 24
Orem 24
Atlanta 23
London 22
Menlo Park 22
Quito 22
Brooklyn 21
Miano 21
Montreal 21
Phoenix 21
Amsterdam 20
Chennai 20
Haiphong 20
Turku 20
Edinburgh 19
Guangzhou 19
Rio de Janeiro 18
Vienna 18
Baghdad 17
Brasília 17
Fuzhou 17
Paris 17
Hangzhou 16
Nairobi 16
Nuremberg 16
Toronto 16
Bern 15
Bologna 15
Mestre 15
Redwood City 15
Stockholm 15
Belo Horizonte 14
Campinas 14
Denver 14
Dong Ket 14
Shenyang 14
Istanbul 13
San Francisco 13
Waanrode 13
Changsha 12
Totale 20.358
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Nome #
Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology 492
Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia 481
ACTN1-related thrombocytopenia: Identification of novel families for phenotypic characterization 481
Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia 450
R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17 412
Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome 409
FANCA nel mitocondrio: qualche ruolo diretto? 403
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia 400
Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim 377
Molecular basis of inherited thrombocytopenias 374
Clinical and genetic aspects Bernard-Soulier syndrome: searching for genotype/phenotype correlations. 277
Heavy chain myosin 9-related disease (MYH9-RD): Neutrophilinclusions of myosin-9 as a pathognomonic sign of the disorder 272
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families 269
MYH9 -Related Thrombocytopenia: Four Novel Variants Affecting the Tail Domain of the Non-Muscle Myosin Heavy Chain IIA Associated with a Mild Clinical Evolution of the Disorder 256
A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defect. 241
ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia 241
MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations. 240
(TA)8 allele in the UGT1A1 gene promoter of a Caucasian with Gilbert's syndrome. 236
Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin. 233
Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome 232
Mitochondrial defect in Warsaw syndrome cells genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: A comparison with Fanconi anemia 230
A novel Leu153Ser mutation of the Fanconi anemia FANCD2 gene is associated with severe chemotherapy toxicity in a pediatric T-cell acute lymphoblastic leukemia. 226
Cleft lip with or without cleft palate: implication of the heavy chain of non-muscle myosin IIA 226
A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene 225
MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype 224
Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia 224
ACTN1 : identification of novel mutations in a cohort of Italian IMTP patients 223
Investigation of MYH14 as a candidate gene in cleft lip with or without cleft palate. 221
Mutations Identified in Thrombocytopenia THC2 Are Likely to Dysregulate ANKRD26 Expression. 213
Correlation between the clinical phenotype of MYH9-related disease and tissue distribution of class II non-muscle myosin heavy chains 212
Amplification of DNA from epithelial cells in urine 212
Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing 212
Role of the mutations identified in the 5’UTR of ANKRD26 responsible for an inherited form of thrombocytopenia 210
Linkage analysis of Fanconi anaemia in Italy and mapping of the complementation group A gene 207
Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology. 200
The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1 198
A new case of acromegaloid facial appearance (AFA) syndrome with an expanded phenotype 194
Spectrum of the mutations in bernard-soulier syndrome. 190
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes 189
Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing 189
Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias 189
Clinical and Laboratory Features of of 103 Patients From 42 Italian Families with Inherited Thrimbocytopenia Derived from the Monoallelic Ala156Val Mutation of GPIb Alpha (Bolzano Mutation) 188
Inherited thrombocytopenia frequently diagnosed in Italy 187
Mutations in the 5′ UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2 184
An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p 183
Stable expression of mutant FANCA: is there any correlation with mild Fanconi anemia clinical? 183
Megakaryocyte and platelet abnormalities in a patient with a W33C mutation in the conserved SH3-like domain of myosin heavy chain IIA 182
Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations. 182
Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients with MYH9-Related Disease 182
Expression and association data strongly support JARID2 involvement in nonsyndromic cleft lip with or without cleft palate. 182
Gray platelet syndrome: Novel mutations of the NBEAL2 gene 181
Fanconi anemia patients are more susceptible to SV40 infection 180
Abnormal cytoplasmic extensions associated with active αIIbβ3 are probably the cause for macrothrombocytopenia in Glanzmann thrombasthenia-like syndrome 180
Mutations of RUNX1 in families with inherited thrombocytopenia 179
Mutazioni nel 5’UTR del gene ANKRD26 sono responsabili di una forma autosomica dominante di trombocitopenia ereditaria, THC2. 178
Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia 178
MYH9: Structure, functions and role of non-muscle myosin IIA in human disease 174
Haplotype analysis to determine the position of a mutation among closely linked DNA markers 173
null 173
A new gene for inherited thrombocytopenias: clinical, pathogenetic and pharmacological studies / Un nuovo gene responsabile di piastrinopenia ereditaria:studi clinici, patogenici e farmacologici 172
Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia 171
Linkage disequilibrium for DNA haplotypes near the Cystic Fibrosis locus in two South European populations 171
Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α‐granule deficiency 171
Combining next generation sequencing with clinical studies to unravel novel inherited thrombocytopenias affecting half of the patients / identificazione di nuovi geni coinvolti nell'insorgenza di piastrinopenie ereditarie tramite tecnologie di sequenziamento di ultima generazione 171
Mutations of the Fanconi anemia group A gene (FAA) in Italian patients 170
Cord blood in vitro expanded CD41+ cells: identification of novel components of megakaryocytopoiesis 170
Why the disorder induced by GATA1 Arg216Gln mutation should be called "X-linked thrombocytopenia with thalassemia" rather than "X-linked gray platelet syndrome" 169
A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation 165
First trimester prenatal diagnosis of Cystic Fibrosis using the polymerase chain reaction: report of eight cases 163
Polyubiquitinated proteins, proteasome, and glycogen characterize the particle-rich cytoplasmic structure (PaCS) of neoplastic and fetal cells. 161
Inherited thrombocytopenia: from gene to therapy 160
Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders. 160
Genetic Mapping of the FACC Gene and Linkage Analysis in Fanconi Anaemia FamilIes 157
Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis 157
Identification of the first duplication in MYH9-related disease: A hot spot for hot unequal crossing-over within exon 24 of the MYH9 gene 156
Role of the mutations identified in the 5’UTR of ANKRD26 responsible for an inherited form of thrombocytopenia 156
Positional cloning of the Fanconi anaemia group A gene 154
Gray Platelet Syndrome: association of NBEAL2 mutations with thrombocytopenia and absence of alpha-granules in platelets 153
p53 activates Fanconi anemia group C gene expression 152
Molecular genetic testing of Fanconi anemia: experience of the Italian Research Group on Fanconi Anemia 150
THE CYSTIC FIBROSIS GENE IS NOT LIKELY TO BE INVOLVED IN CHRONIC OBSTRUCTIVE PULMONARY DISEASE 149
Somatic, hematologic phenotype, long-term outcome, and effect of hematopoietic stem cell transplantation. An analysis of 97 Fanconi anemia patients from the Italian national database on behalf of the Marrow Failure Study Group of the AIEOP (Italian Association of Pediatric Hematology–Oncology) 149
The characterization of the 5' region of the Fanconi Anemia Group C (FACC) gene 147
Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation 146
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme 146
Mitochondrial Myopathies 145
Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients. 143
Worldwide survey of the deltaF508 mutation-report from the Cystic Fibrosis Genetic Analysis Consortium 142
Fanconi anaemia in Italy: high prevalence of complementation group A in two geographic clusters 141
Confirmation of Kapur-Toriello syndrome in an Italian patient. 140
Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIb{alpha} (Bolzano mutation). 140
EcoRI RFPLP in the Fanconi Anemia Complementing Group C Gene (FACC). 139
The genotype of a new linked DNA marker, MP6-d9, is related to the clinical course of Cystic Fibrosis 139
A novel mutation in MECOM affects MPL regulation in vitro and results in thrombocytopenia and bone marrow failure 135
Molecular characterization of Fanconi Anaemia group C (FAC) gene polymorphisms 135
null 135
Association of complementation group and mutation type with clinical outcome in Fanconi anemia. European Fanconi Anemia Research Group. 135
Defective expression of GPIb/IX/V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome 134
Inherited thrombocytopenia caused by ANKRD26 mutations misdiagnosed and treated as myelodysplastic syndrome: report on two cases 134
null 133
Totale 20.655
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Categoria #
all - tutte 85.148
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 85.148
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021246 0 0 0 0 0 0 0 0 0 0 0 246
2021/20221.651 55 144 67 138 89 77 79 62 227 172 152 389
2022/20232.619 239 250 173 393 261 476 13 236 386 16 130 46
2023/20241.320 95 96 95 80 160 162 185 204 20 27 116 80
2024/20253.219 69 144 348 269 274 403 136 180 390 371 287 348
2025/20267.754 748 459 706 610 614 833 1.018 268 860 1.024 332 282
Totale 29.266