ArTS Archivio della ricerca di Trieste

SAVOIA, ANNA
 Distribuzione geografica
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Continente #
NA - Nord America 15.559
EU - Europa 7.114
AS - Asia 6.271
SA - Sud America 792
Continente sconosciuto - Info sul continente non disponibili 479
AF - Africa 126
OC - Oceania 19
Totale 30.360
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Nazione #
US - Stati Uniti d'America 15.366
SG - Singapore 2.300
PL - Polonia 2.036
CN - Cina 1.692
IT - Italia 1.093
UA - Ucraina 966
SE - Svezia 760
BR - Brasile 625
VN - Vietnam 557
HK - Hong Kong 554
FI - Finlandia 401
FR - Francia 376
KR - Corea 350
GB - Regno Unito 271
TR - Turchia 223
RU - Federazione Russa 222
DE - Germania 218
NL - Olanda 190
IE - Irlanda 185
BD - Bangladesh 173
BG - Bulgaria 171
IN - India 127
CA - Canada 89
AR - Argentina 59
BE - Belgio 56
MA - Marocco 51
MX - Messico 51
IQ - Iraq 42
JP - Giappone 40
EC - Ecuador 33
ES - Italia 33
ZA - Sudafrica 28
AT - Austria 27
CH - Svizzera 25
PK - Pakistan 23
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
CO - Colombia 13
NP - Nepal 13
UZ - Uzbekistan 13
AE - Emirati Arabi Uniti 12
CZ - Repubblica Ceca 12
GR - Grecia 12
IL - Israele 12
JO - Giordania 11
LT - Lituania 11
CR - Costa Rica 10
EU - Europa 10
JM - Giamaica 10
RO - Romania 10
TW - Taiwan 10
MY - Malesia 9
PY - Paraguay 9
AL - Albania 8
KZ - Kazakistan 8
PE - Perù 8
PT - Portogallo 8
SN - Senegal 8
TT - Trinidad e Tobago 7
UY - Uruguay 6
DK - Danimarca 5
EG - Egitto 5
HN - Honduras 5
LK - Sri Lanka 5
AZ - Azerbaigian 4
BA - Bosnia-Erzegovina 4
LB - Libano 4
NG - Nigeria 4
NZ - Nuova Zelanda 4
PA - Panama 4
PS - Palestinian Territory 4
NI - Nicaragua 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
BY - Bielorussia 2
CG - Congo 2
DZ - Algeria 2
EE - Estonia 2
ET - Etiopia 2
GE - Georgia 2
GT - Guatemala 2
HU - Ungheria 2
IR - Iran 2
LA - Repubblica Popolare Democratica del Laos 2
MK - Macedonia 2
RS - Serbia 2
SV - El Salvador 2
SX - ???statistics.table.value.countryCode.SX??? 2
AO - Angola 1
Totale 29.874
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Città #
Warsaw 1.869
Singapore 1.405
Ashburn 1.385
Woodbridge 1.361
Fairfield 1.310
Ann Arbor 1.164
Houston 1.034
Chandler 910
Jacksonville 876
San Jose 712
Wilmington 678
Hong Kong 542
Seattle 515
Beijing 438
Hefei 413
Cambridge 388
Seoul 344
Princeton 332
Council Bluffs 330
Boardman 292
Chicago 246
Dallas 227
Columbus 222
Dearborn 209
Los Angeles 180
Dublin 175
Izmir 175
Ho Chi Minh City 168
Sofia 168
Zgierz 156
Lauterbourg 151
Trieste 142
Hanoi 128
Santa Clara 128
Milan 127
Buffalo 116
Moscow 116
San Diego 93
The Dalles 93
Helsinki 86
New York 86
São Paulo 73
Frankfurt am Main 58
Verona 54
Düsseldorf 49
Shanghai 47
Munich 46
Casablanca 44
Brussels 43
Des Moines 42
Jinan 36
Nanjing 35
Rome 34
Washington 32
Kunming 31
Phoenix 31
Da Nang 30
Norwalk 29
Tokyo 27
Atlanta 26
Brooklyn 26
Redondo Beach 26
Orem 25
Pune 25
Falls Church 24
Montreal 24
London 23
Menlo Park 22
Quito 22
Miano 21
Amsterdam 20
Chennai 20
Haiphong 20
Turku 20
Edinburgh 19
Guangzhou 19
Brasília 18
Rio de Janeiro 18
San Francisco 18
Toronto 18
Vienna 18
Baghdad 17
Fuzhou 17
Paris 17
Hangzhou 16
Nairobi 16
Nuremberg 16
Bern 15
Bologna 15
Mestre 15
Redwood City 15
Stockholm 15
Belo Horizonte 14
Campinas 14
Denver 14
Dong Ket 14
Istanbul 14
Palermo 14
Shenyang 14
Mexico City 13
Totale 20.988
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Nome #
ACTN1-related thrombocytopenia: Identification of novel families for phenotypic characterization 555
Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology 500
Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia 495
Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia 459
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia 443
R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17 429
Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome 415
FANCA nel mitocondrio: qualche ruolo diretto? 409
Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim 379
Molecular basis of inherited thrombocytopenias 378
Clinical and genetic aspects Bernard-Soulier syndrome: searching for genotype/phenotype correlations. 282
Heavy chain myosin 9-related disease (MYH9-RD): Neutrophilinclusions of myosin-9 as a pathognomonic sign of the disorder 278
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families 274
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 258
(TA)8 allele in the UGT1A1 gene promoter of a Caucasian with Gilbert's syndrome. 251
MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations. 246
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. 245
ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia 245
Mitochondrial defect in Warsaw syndrome cells genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: A comparison with Fanconi anemia 238
Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin. 237
ACTN1 : identification of novel mutations in a cohort of Italian IMTP patients 235
Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome 234
Cleft lip with or without cleft palate: implication of the heavy chain of non-muscle myosin IIA 230
Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia 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. 229
A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene 228
MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype 227
Investigation of MYH14 as a candidate gene in cleft lip with or without cleft palate. 224
Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing 223
Amplification of DNA from epithelial cells in urine 221
Role of the mutations identified in the 5’UTR of ANKRD26 responsible for an inherited form of thrombocytopenia 218
Linkage analysis of Fanconi anaemia in Italy and mapping of the complementation group A gene 216
Mutations Identified in Thrombocytopenia THC2 Are Likely to Dysregulate ANKRD26 Expression. 216
Correlation between the clinical phenotype of MYH9-related disease and tissue distribution of class II non-muscle myosin heavy chains 215
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes 205
The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1 203
A new case of acromegaloid facial appearance (AFA) syndrome with an expanded phenotype 201
Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology. 200
Inherited thrombocytopenia frequently diagnosed in Italy 200
Spectrum of the mutations in bernard-soulier syndrome. 199
Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations. 194
Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing 194
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) 193
Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias 193
Mutations in the 5′ UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2 189
An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p 188
Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients with MYH9-Related Disease 187
Expression and association data strongly support JARID2 involvement in nonsyndromic cleft lip with or without cleft palate. 186
Stable expression of mutant FANCA: is there any correlation with mild Fanconi anemia clinical? 186
Megakaryocyte and platelet abnormalities in a patient with a W33C mutation in the conserved SH3-like domain of myosin heavy chain IIA 185
Fanconi anemia patients are more susceptible to SV40 infection 185
Abnormal cytoplasmic extensions associated with active αIIbβ3 are probably the cause for macrothrombocytopenia in Glanzmann thrombasthenia-like syndrome 184
Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia 183
Haplotype analysis to determine the position of a mutation among closely linked DNA markers 181
Mutazioni nel 5’UTR del gene ANKRD26 sono responsabili di una forma autosomica dominante di trombocitopenia ereditaria, THC2. 181
Gray platelet syndrome: Novel mutations of the NBEAL2 gene 181
A new gene for inherited thrombocytopenias: clinical, pathogenetic and pharmacological studies / Un nuovo gene responsabile di piastrinopenia ereditaria:studi clinici, patogenici e farmacologici 181
Mutations of RUNX1 in families with inherited thrombocytopenia 180
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 178
MYH9: Structure, functions and role of non-muscle myosin IIA in human disease 176
Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia 175
Linkage disequilibrium for DNA haplotypes near the Cystic Fibrosis locus in two South European populations 175
Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α‐granule deficiency 175
Why the disorder induced by GATA1 Arg216Gln mutation should be called "X-linked thrombocytopenia with thalassemia" rather than "X-linked gray platelet syndrome" 173
null 173
A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation 172
Mutations of the Fanconi anemia group A gene (FAA) in Italian patients 172
Cord blood in vitro expanded CD41+ cells: identification of novel components of megakaryocytopoiesis 171
First trimester prenatal diagnosis of Cystic Fibrosis using the polymerase chain reaction: report of eight cases 169
Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders. 169
Inherited thrombocytopenia: from gene to therapy 166
Polyubiquitinated proteins, proteasome, and glycogen characterize the particle-rich cytoplasmic structure (PaCS) of neoplastic and fetal cells. 166
Role of the mutations identified in the 5’UTR of ANKRD26 responsible for an inherited form of thrombocytopenia 165
Genetic Mapping of the FACC Gene and Linkage Analysis in Fanconi Anaemia FamilIes 164
Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis 163
Positional cloning of the Fanconi anaemia group A gene 161
Identification of the first duplication in MYH9-related disease: A hot spot for hot unequal crossing-over within exon 24 of the MYH9 gene 158
Gray Platelet Syndrome: association of NBEAL2 mutations with thrombocytopenia and absence of alpha-granules in platelets 158
p53 activates Fanconi anemia group C gene expression 157
Molecular genetic testing of Fanconi anemia: experience of the Italian Research Group on Fanconi Anemia 157
THE CYSTIC FIBROSIS GENE IS NOT LIKELY TO BE INVOLVED IN CHRONIC OBSTRUCTIVE PULMONARY DISEASE 154
The characterization of the 5' region of the Fanconi Anemia Group C (FACC) gene 153
Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients. 151
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) 151
Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation 150
Mitochondrial Myopathies 149
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme 149
Worldwide survey of the deltaF508 mutation-report from the Cystic Fibrosis Genetic Analysis Consortium 148
A novel mutation in MECOM affects MPL regulation in vitro and results in thrombocytopenia and bone marrow failure 147
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). 147
Fanconi anaemia in Italy: high prevalence of complementation group A in two geographic clusters 145
Confirmation of Kapur-Toriello syndrome in an Italian patient. 145
EcoRI RFPLP in the Fanconi Anemia Complementing Group C Gene (FACC). 145
Molecular characterization of Fanconi Anaemia group C (FAC) gene polymorphisms 142
The genotype of a new linked DNA marker, MP6-d9, is related to the clinical course of Cystic Fibrosis 141
Inherited thrombocytopenia caused by ANKRD26 mutations misdiagnosed and treated as myelodysplastic syndrome: report on two cases 140
Association of complementation group and mutation type with clinical outcome in Fanconi anemia. European Fanconi Anemia Research Group. 140
Fine exon-intron structure of the Fanconi anemia group A (FAA) gene and characterization of two genomic deletions 137
. Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopaenia and absent radii (TAR) 137
Alteration of liver enzymes is a feature of the MYH9-related disease syndrome 136
Totale 21.321
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Categoria #
all - tutte 90.186
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 90.186
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.452 0 0 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
2025/20267.757 748 459 706 610 614 833 1.018 268 860 1.024 332 285
2026/20271.091 276 402 413 0 0 0 0 0 0 0 0 0
Totale 30.360