ArTS Archivio della ricerca di Trieste

SAVOIA, ANNA
 Distribuzione geografica
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Continente #
NA - Nord America 11.566
EU - Europa 5.611
AS - Asia 1.938
SA - Sud America 36
OC - Oceania 16
Continente sconosciuto - Info sul continente non disponibili 12
AF - Africa 7
Totale 19.186
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Nazione #
US - Stati Uniti d'America 11.549
PL - Polonia 1.831
UA - Ucraina 958
CN - Cina 811
IT - Italia 774
SE - Svezia 745
SG - Singapore 530
FI - Finlandia 326
HK - Hong Kong 314
TR - Turchia 188
IE - Irlanda 176
GB - Regno Unito 167
BG - Bulgaria 166
RU - Federazione Russa 140
FR - Francia 93
DE - Germania 68
BE - Belgio 55
IN - India 41
NL - Olanda 31
CH - Svizzera 24
VN - Vietnam 16
EC - Ecuador 15
AT - Austria 14
BR - Brasile 13
AU - Australia 12
CA - Canada 11
ES - Italia 11
KR - Corea 11
EU - Europa 10
CZ - Repubblica Ceca 8
GR - Grecia 6
JP - Giappone 6
MX - Messico 6
AL - Albania 5
CL - Cile 5
RO - Romania 5
IL - Israele 4
NZ - Nuova Zelanda 4
SN - Senegal 4
TW - Taiwan 3
A2 - ???statistics.table.value.countryCode.A2??? 2
AR - Argentina 2
DK - Danimarca 2
HU - Ungheria 2
IR - Iran 2
SA - Arabia Saudita 2
TH - Thailandia 2
AE - Emirati Arabi Uniti 1
BA - Bosnia-Erzegovina 1
BD - Bangladesh 1
DZ - Algeria 1
EG - Egitto 1
KG - Kirghizistan 1
KZ - Kazakistan 1
LA - Repubblica Popolare Democratica del Laos 1
LT - Lituania 1
LU - Lussemburgo 1
MA - Marocco 1
MY - Malesia 1
PE - Perù 1
PH - Filippine 1
PT - Portogallo 1
UZ - Uzbekistan 1
Totale 19.186
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Città #
Warsaw 1.830
Woodbridge 1.358
Fairfield 1.310
Ann Arbor 1.164
Houston 1.016
Chandler 910
Jacksonville 871
Ashburn 693
Wilmington 677
Seattle 511
Singapore 453
Cambridge 388
Princeton 331
Hong Kong 309
Boardman 290
Beijing 230
Dearborn 208
Izmir 174
Dublin 168
Sofia 165
Columbus 155
Trieste 141
Moscow 101
San Diego 92
Santa Clara 71
Chicago 58
Milan 56
Verona 52
Hefei 51
Brussels 42
Des Moines 39
Shanghai 37
Nanjing 33
Helsinki 32
Buffalo 31
Jinan 31
Kunming 31
Norwalk 29
Falls Church 24
Pune 24
Dallas 22
Menlo Park 22
Washington 22
Fuzhou 17
Bern 15
Düsseldorf 15
Edinburgh 15
Mestre 15
Quito 15
Redwood City 15
Dong Ket 14
Guangzhou 14
Shenyang 14
Los Angeles 13
Phoenix 13
Waanrode 13
Bologna 12
Hangzhou 11
Kocaeli 11
Nanchang 11
São Paulo 11
Rome 10
Sacile 10
Taizhou 10
Changsha 9
Paris 9
Taiyuan 9
Tappahannock 9
Zurich 9
Brno 8
Napoli 8
Palermo 8
Perugia 8
Redmond 8
Seoul 8
Vienna 8
Munich 7
Naples 7
New York 7
Wuhan 6
Amsterdam 5
Atlanta 5
Kurukshetra 5
London 5
Reggio Emilia 5
Sydney 5
Zhengzhou 5
Birmingham 4
Dakar 4
Dongguan 4
Fremont 4
Harbin 4
Montreal 4
Ningbo 4
Ravenna 4
San Francisco 4
Turin 4
Auburn Hills 3
Auckland 3
Baotou 3
Totale 14.738
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Nome #
Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology 391
ACTN1-related thrombocytopenia: Identification of novel families for phenotypic characterization 366
Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia 351
Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia 338
Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome 324
Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim 319
Molecular basis of inherited thrombocytopenias 317
R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17 316
FANCA nel mitocondrio: qualche ruolo diretto? 310
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia 309
Clinical and genetic aspects Bernard-Soulier syndrome: searching for genotype/phenotype correlations. 202
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families 202
Heavy chain myosin 9-related disease (MYH9-RD): Neutrophilinclusions of myosin-9 as a pathognomonic sign of the disorder 177
null 173
MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations. 169
ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia 169
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 167
Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome 164
Investigation of MYH14 as a candidate gene in cleft lip with or without cleft palate. 157
MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype 155
Cleft lip with or without cleft palate: implication of the heavy chain of non-muscle myosin IIA 154
A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene 151
The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1 150
Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin. 149
Amplification of DNA from epithelial cells in urine 147
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. 147
Linkage disequilibrium for DNA haplotypes near the Cystic Fibrosis locus in two South European populations 143
Megakaryocyte and platelet abnormalities in a patient with a W33C mutation in the conserved SH3-like domain of myosin heavy chain IIA 143
Mutations Identified in Thrombocytopenia THC2 Are Likely to Dysregulate ANKRD26 Expression. 143
Haplotype analysis to determine the position of a mutation among closely linked DNA markers 142
Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias 141
Correlation between the clinical phenotype of MYH9-related disease and tissue distribution of class II non-muscle myosin heavy chains 139
Role of the mutations identified in the 5’UTR of ANKRD26 responsible for an inherited form of thrombocytopenia 139
Linkage analysis of Fanconi anaemia in Italy and mapping of the complementation group A gene 138
Spectrum of the mutations in bernard-soulier syndrome. 137
A novel Leu153Ser mutation of the Fanconi anemia FANCD2 gene is associated with severe chemotherapy toxicity in a pediatric T-cell acute lymphoblastic leukemia. 136
Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology. 135
null 135
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes 133
null 133
null 132
Mutations of the Fanconi anemia group A gene (FAA) in Italian patients 131
ACTN1 : identification of novel mutations in a cohort of Italian IMTP patients 131
Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia 131
Cord blood in vitro expanded CD41+ cells: identification of novel components of megakaryocytopoiesis 130
Mutations in the 5′ UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2 129
First trimester prenatal diagnosis of Cystic Fibrosis using the polymerase chain reaction: report of eight cases 128
null 128
Polyubiquitinated proteins, proteasome, and glycogen characterize the particle-rich cytoplasmic structure (PaCS) of neoplastic and fetal cells. 128
Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing 128
Gray platelet syndrome: Novel mutations of the NBEAL2 gene 128
null 127
Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations. 124
Why the disorder induced by GATA1 Arg216Gln mutation should be called "X-linked thrombocytopenia with thalassemia" rather than "X-linked gray platelet syndrome" 123
MYH9: Structure, functions and role of non-muscle myosin IIA in human disease 123
Genetic Mapping of the FACC Gene and Linkage Analysis in Fanconi Anaemia FamilIes 122
Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders. 122
Expression and association data strongly support JARID2 involvement in nonsyndromic cleft lip with or without cleft palate. 121
(TA)8 allele in the UGT1A1 gene promoter of a Caucasian with Gilbert's syndrome. 120
THE CYSTIC FIBROSIS GENE IS NOT LIKELY TO BE INVOLVED IN CHRONIC OBSTRUCTIVE PULMONARY DISEASE 120
Inherited thrombocytopenia frequently diagnosed in Italy 119
Mutations of RUNX1 in families with inherited thrombocytopenia 119
Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia 119
Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing 117
A new case of acromegaloid facial appearance (AFA) syndrome with an expanded phenotype 116
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) 116
Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients with MYH9-Related Disease 116
Mutazioni nel 5’UTR del gene ANKRD26 sono responsabili di una forma autosomica dominante di trombocitopenia ereditaria, THC2. 115
Mitochondrial Myopathies 114
null 114
null 111
An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p 110
Mitochondrial defect in Warsaw syndrome cells genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: A comparison with Fanconi anemia 109
Stable expression of mutant FANCA: is there any correlation with mild Fanconi anemia clinical? 107
Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia 106
Positional cloning of the Fanconi anaemia group A gene 105
Defective expression of GPIb/IX/V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome 105
MYH9 gene mutations associated with bleeding 105
null 104
Fanconi anaemia in Italy: high prevalence of complementation group A in two geographic clusters 103
Confirmation of Kapur-Toriello syndrome in an Italian patient. 103
EcoRI RFPLP in the Fanconi Anemia Complementing Group C Gene (FACC). 103
The characterization of the 5' region of the Fanconi Anemia Group C (FACC) gene 103
null 103
p53 activates Fanconi anemia group C gene expression 102
Regional distribution of Cystic fibrosis linked DNA haplotypes in Italy, a collaborative study 102
Fanconi anemia patients are more susceptible to SV40 infection 102
Molecular genetic testing of Fanconi anemia: experience of the Italian Research Group on Fanconi Anemia 101
Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α‐granule deficiency 100
Inherited thrombocytopenia caused by ANKRD26 mutations misdiagnosed and treated as myelodysplastic syndrome: report on two cases 100
The genotype of a new linked DNA marker, MP6-d9, is related to the clinical course of Cystic Fibrosis 98
Worldwide survey of the deltaF508 mutation-report from the Cystic Fibrosis Genetic Analysis Consortium 98
Role of the mutations identified in the 5’UTR of ANKRD26 responsible for an inherited form of thrombocytopenia 95
Inherited thrombocytopenias: molecular mechanisms 94
Identification of the first duplication in MYH9-related disease: A hot spot for hot unequal crossing-over within exon 24 of the MYH9 gene 94
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) 94
Genetics, clinical and pathological features of glomerulonephrites associated with mutations of non-muscle myosin IIA (Fechtner syndrome) 93
Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients. 93
A new gene for inherited thrombocytopenias: clinical, pathogenetic and pharmacological studies / Un nuovo gene responsabile di piastrinopenia ereditaria:studi clinici, patogenici e farmacologici 93
Fine exon-intron structure of the Fanconi anemia group A (FAA) gene and characterization of two genomic deletions 90
Totale 14.628
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Categoria #
all - tutte 55.571
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 55.571
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20202.447 0 0 0 0 0 586 456 492 349 178 250 136
2020/20212.492 268 143 222 327 170 258 121 228 124 304 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
2024/20251.355 69 144 348 269 274 251 0 0 0 0 0 0
Totale 19.648