ArTS Archivio della ricerca di Trieste

SAVOIA, ANNA
 Distribuzione geografica
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Continente #
NA - Nord America 14.165
EU - Europa 6.924
AS - Asia 6.082
SA - Sud America 770
AF - Africa 126
OC - Oceania 19
Continente sconosciuto - Info sul continente non disponibili 13
Totale 28.099
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Nazione #
US - Stati Uniti d'America 14.030
SG - Singapore 2.284
PL - Polonia 2.035
CN - Cina 1.662
UA - Ucraina 965
IT - Italia 934
SE - Svezia 760
BR - Brasile 614
VN - Vietnam 556
HK - Hong Kong 550
FI - Finlandia 400
FR - Francia 371
KR - Corea 350
GB - Regno Unito 264
RU - Federazione Russa 222
TR - Turchia 222
DE - Germania 217
NL - Olanda 187
IE - Irlanda 185
BG - Bulgaria 171
IN - India 127
CA - Canada 58
BE - Belgio 56
AR - Argentina 55
MA - Marocco 51
MX - Messico 50
BD - Bangladesh 44
IQ - Iraq 42
JP - Giappone 39
EC - Ecuador 32
ES - Italia 30
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
UZ - Uzbekistan 13
CZ - Repubblica Ceca 12
GR - Grecia 12
IL - Israele 12
NP - Nepal 12
AE - Emirati Arabi Uniti 11
JO - Giordania 11
LT - Lituania 11
EU - Europa 10
TW - Taiwan 10
PY - Paraguay 9
RO - Romania 9
CO - Colombia 8
PE - Perù 8
SN - Senegal 8
KZ - Kazakistan 7
AL - Albania 6
MY - Malesia 6
PT - Portogallo 6
DK - Danimarca 5
EG - Egitto 5
JM - Giamaica 5
LK - Sri Lanka 5
TT - Trinidad e Tobago 5
UY - Uruguay 5
AZ - Azerbaigian 4
CR - Costa Rica 4
LB - Libano 4
NG - Nigeria 4
NZ - Nuova Zelanda 4
PA - Panama 4
PS - Palestinian Territory 4
BA - Bosnia-Erzegovina 3
QA - Qatar 3
SY - Repubblica araba siriana 3
TN - Tunisia 3
A2 - ???statistics.table.value.countryCode.A2??? 2
BO - Bolivia 2
CG - Congo 2
DZ - Algeria 2
ET - Etiopia 2
GE - Georgia 2
HN - Honduras 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
BB - Barbados 1
BH - Bahrain 1
BN - Brunei Darussalam 1
BS - Bahamas 1
BW - Botswana 1
BY - Bielorussia 1
CY - Cipro 1
Totale 28.084
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Città #
Warsaw 1.868
Singapore 1.399
Woodbridge 1.359
Fairfield 1.310
Ashburn 1.228
Ann Arbor 1.164
Houston 1.026
Chandler 910
Jacksonville 872
Wilmington 677
San Jose 560
Hong Kong 538
Seattle 513
Beijing 422
Hefei 413
Cambridge 388
Seoul 344
Princeton 331
Boardman 292
Chicago 239
Dearborn 208
Dallas 206
Dublin 175
Izmir 175
Sofia 168
Ho Chi Minh City 167
Columbus 156
Zgierz 156
Los Angeles 152
Lauterbourg 151
Trieste 141
Hanoi 128
Moscow 116
Buffalo 106
Milan 95
Santa Clara 94
The Dalles 93
San Diego 92
Helsinki 86
Council Bluffs 73
São Paulo 72
Frankfurt am Main 58
New York 54
Verona 53
Düsseldorf 49
Munich 45
Shanghai 45
Casablanca 44
Brussels 43
Des Moines 42
Jinan 36
Nanjing 35
Kunming 31
Da Nang 30
Norwalk 29
Tokyo 27
Redondo Beach 26
Washington 26
Pune 25
Falls Church 24
Atlanta 23
Orem 23
London 22
Menlo Park 22
Quito 22
Amsterdam 20
Chennai 20
Haiphong 20
Turku 20
Edinburgh 19
Guangzhou 19
Montreal 19
Phoenix 19
Rome 19
Vienna 18
Baghdad 17
Brooklyn 17
Fuzhou 17
Brasília 16
Hangzhou 16
Miano 16
Nairobi 16
Nuremberg 16
Paris 16
Rio de Janeiro 16
Bern 15
Mestre 15
Redwood City 15
Stockholm 15
Belo Horizonte 14
Bologna 14
Campinas 14
Dong Ket 14
Shenyang 14
Istanbul 13
San Francisco 13
Waanrode 13
Changsha 12
Denver 12
Dhaka 12
Totale 20.058
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Nome #
Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology 485
ACTN1-related thrombocytopenia: Identification of novel families for phenotypic characterization 470
Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia 461
Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia 440
R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17 403
Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome 399
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia 398
FANCA nel mitocondrio: qualche ruolo diretto? 397
Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim 375
Molecular basis of inherited thrombocytopenias 366
Clinical and genetic aspects Bernard-Soulier syndrome: searching for genotype/phenotype correlations. 270
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families 267
Heavy chain myosin 9-related disease (MYH9-RD): Neutrophilinclusions of myosin-9 as a pathognomonic sign of the disorder 262
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 248
MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations. 235
ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia 235
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. 233
(TA)8 allele in the UGT1A1 gene promoter of a Caucasian with Gilbert's syndrome. 227
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
Mitochondrial defect in Warsaw syndrome cells genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: A comparison with Fanconi anemia 226
Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin. 224
Cleft lip with or without cleft palate: implication of the heavy chain of non-muscle myosin IIA 222
MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype 221
A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene 221
Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia 220
Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome 217
ACTN1 : identification of novel mutations in a cohort of Italian IMTP patients 217
Investigation of MYH14 as a candidate gene in cleft lip with or without cleft palate. 215
Correlation between the clinical phenotype of MYH9-related disease and tissue distribution of class II non-muscle myosin heavy chains 211
Amplification of DNA from epithelial cells in urine 211
Mutations Identified in Thrombocytopenia THC2 Are Likely to Dysregulate ANKRD26 Expression. 211
Role of the mutations identified in the 5’UTR of ANKRD26 responsible for an inherited form of thrombocytopenia 208
Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing 207
Linkage analysis of Fanconi anaemia in Italy and mapping of the complementation group A gene 198
Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology. 197
A new case of acromegaloid facial appearance (AFA) syndrome with an expanded phenotype 192
Spectrum of the mutations in bernard-soulier syndrome. 187
The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1 186
Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias 185
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes 184
Inherited thrombocytopenia frequently diagnosed in Italy 184
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
Mutations in the 5′ UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2 182
An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p 181
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) 181
Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing 180
Gray platelet syndrome: Novel mutations of the NBEAL2 gene 178
Mutazioni nel 5’UTR del gene ANKRD26 sono responsabili di una forma autosomica dominante di trombocitopenia ereditaria, THC2. 177
Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia 177
Expression and association data strongly support JARID2 involvement in nonsyndromic cleft lip with or without cleft palate. 177
Fanconi anemia patients are more susceptible to SV40 infection 176
Mutations of RUNX1 in families with inherited thrombocytopenia 175
Abnormal cytoplasmic extensions associated with active αIIbβ3 are probably the cause for macrothrombocytopenia in Glanzmann thrombasthenia-like syndrome 174
null 173
Haplotype analysis to determine the position of a mutation among closely linked DNA markers 171
A new gene for inherited thrombocytopenias: clinical, pathogenetic and pharmacological studies / Un nuovo gene responsabile di piastrinopenia ereditaria:studi clinici, patogenici e farmacologici 171
Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia 170
Linkage disequilibrium for DNA haplotypes near the Cystic Fibrosis locus in two South European populations 170
Mutations of the Fanconi anemia group A gene (FAA) in Italian patients 169
Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations. 168
Cord blood in vitro expanded CD41+ cells: identification of novel components of megakaryocytopoiesis 168
Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α‐granule deficiency 168
Why the disorder induced by GATA1 Arg216Gln mutation should be called "X-linked thrombocytopenia with thalassemia" rather than "X-linked gray platelet syndrome" 166
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 166
Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients with MYH9-Related Disease 164
First trimester prenatal diagnosis of Cystic Fibrosis using the polymerase chain reaction: report of eight cases 163
MYH9: Structure, functions and role of non-muscle myosin IIA in human disease 162
Polyubiquitinated proteins, proteasome, and glycogen characterize the particle-rich cytoplasmic structure (PaCS) of neoplastic and fetal cells. 161
Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders. 157
Genetic Mapping of the FACC Gene and Linkage Analysis in Fanconi Anaemia FamilIes 156
Identification of the first duplication in MYH9-related disease: A hot spot for hot unequal crossing-over within exon 24 of the MYH9 gene 153
Role of the mutations identified in the 5’UTR of ANKRD26 responsible for an inherited form of thrombocytopenia 153
Gray Platelet Syndrome: association of NBEAL2 mutations with thrombocytopenia and absence of alpha-granules in platelets 150
Molecular genetic testing of Fanconi anemia: experience of the Italian Research Group on Fanconi Anemia 150
Positional cloning of the Fanconi anaemia group A gene 149
THE CYSTIC FIBROSIS GENE IS NOT LIKELY TO BE INVOLVED IN CHRONIC OBSTRUCTIVE PULMONARY DISEASE 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
p53 activates Fanconi anemia group C gene expression 148
The characterization of the 5' region of the Fanconi Anemia Group C (FACC) gene 145
Mitochondrial Myopathies 145
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) 145
Fanconi anaemia in Italy: high prevalence of complementation group A in two geographic clusters 141
Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients. 141
Confirmation of Kapur-Toriello syndrome in an Italian patient. 140
Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation 140
Worldwide survey of the deltaF508 mutation-report from the Cystic Fibrosis Genetic Analysis Consortium 139
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). 137
null 135
EcoRI RFPLP in the Fanconi Anemia Complementing Group C Gene (FACC). 134
The genotype of a new linked DNA marker, MP6-d9, is related to the clinical course of Cystic Fibrosis 134
Inherited thrombocytopenia caused by ANKRD26 mutations misdiagnosed and treated as myelodysplastic syndrome: report on two cases 134
null 133
A novel mutation in MECOM affects MPL regulation in vitro and results in thrombocytopenia and bone marrow failure 132
null 132
Regional distribution of Cystic fibrosis linked DNA haplotypes in Italy, a collaborative study 132
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme 132
. Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopaenia and absent radii (TAR) 130
Defective expression of GPIb/IX/V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome 130
Inherited thrombocytopenia: from gene to therapy 129
Totale 20.148
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Categoria #
all - tutte 80.648
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 80.648
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021631 0 0 0 0 0 0 0 0 0 304 81 246
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
2025/20267.051 748 459 706 610 614 833 1.018 268 860 935 0 0
Totale 28.563