ArTS Archivio della ricerca di Trieste

SAVOIA, ANNA
 Distribuzione geografica
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Continente #
NA - Nord America 10.966
EU - Europa 5.364
AS - Asia 1.240
SA - Sud America 31
Continente sconosciuto - Info sul continente non disponibili 12
OC - Oceania 11
AF - Africa 7
Totale 17.631
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Nazione #
US - Stati Uniti d'America 10.949
PL - Polonia 1.831
UA - Ucraina 958
SE - Svezia 745
IT - Italia 724
CN - Cina 693
FI - Finlandia 319
HK - Hong Kong 267
TR - Turchia 188
IE - Irlanda 173
BG - Bulgaria 166
GB - Regno Unito 157
FR - Francia 87
DE - Germania 59
BE - Belgio 55
IN - India 40
NL - Olanda 29
CH - Svizzera 24
VN - Vietnam 16
EC - Ecuador 15
CA - Canada 11
KR - Corea 11
EU - Europa 10
BR - Brasile 9
AT - Austria 8
AU - Australia 7
ES - Italia 7
MX - Messico 6
AL - Albania 5
CL - Cile 5
RO - Romania 5
SG - Singapore 5
IL - Israele 4
JP - Giappone 4
NZ - Nuova Zelanda 4
SN - Senegal 4
CZ - Repubblica Ceca 3
A2 - ???statistics.table.value.countryCode.A2??? 2
HU - Ungheria 2
IR - Iran 2
RU - Federazione Russa 2
SA - Arabia Saudita 2
TW - Taiwan 2
AE - Emirati Arabi Uniti 1
AR - Argentina 1
BA - Bosnia-Erzegovina 1
BD - Bangladesh 1
DK - Danimarca 1
DZ - Algeria 1
EG - Egitto 1
GR - Grecia 1
LA - Repubblica Popolare Democratica del Laos 1
LU - Lussemburgo 1
MA - Marocco 1
MY - Malesia 1
PE - Perù 1
PT - Portogallo 1
TH - Thailandia 1
UZ - Uzbekistan 1
Totale 17.631
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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 682
Wilmington 677
Seattle 511
Cambridge 388
Princeton 331
Hong Kong 262
Beijing 226
Dearborn 208
Izmir 174
Dublin 165
Sofia 165
Trieste 128
Boardman 122
San Diego 92
Chicago 57
Milan 55
Hefei 51
Verona 50
Brussels 42
Des Moines 39
Buffalo 31
Kunming 31
Nanjing 31
Norwalk 29
Jinan 28
Shanghai 27
Helsinki 25
Falls Church 24
Pune 24
Menlo Park 22
Washington 22
Fuzhou 17
Bern 15
Düsseldorf 15
Mestre 15
Quito 15
Redwood City 15
Dong Ket 14
Shenyang 14
Phoenix 13
Waanrode 13
Bologna 12
Kocaeli 11
Nanchang 11
Edinburgh 10
Hangzhou 10
Sacile 10
São Paulo 9
Taiyuan 9
Tappahannock 9
Zurich 9
Changsha 8
Guangzhou 8
Napoli 8
Perugia 8
Redmond 8
Seoul 8
Taizhou 8
Los Angeles 7
Paris 7
Rome 7
New York 6
Palermo 6
Amsterdam 5
Atlanta 5
Kurukshetra 5
Reggio Emilia 5
Wuhan 5
Zhengzhou 5
Dakar 4
Fremont 4
London 4
Montreal 4
Ravenna 4
San Francisco 4
Turin 4
Vienna 4
Auburn Hills 3
Auckland 3
Baotou 3
Brno 3
Central 3
Chongqing 3
Dallas 3
Dongguan 3
Halmstad 3
Indiana 3
Lissone 3
Oxford 3
Portici 3
Shaoxing 3
Tel Aviv 3
Tianjin 3
Totale 13.623
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Nome #
Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology 379
ACTN1-related thrombocytopenia: Identification of novel families for phenotypic characterization 345
Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia 339
Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia 324
Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome 316
Molecular basis of inherited thrombocytopenias 312
Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim 305
FANCA nel mitocondrio: qualche ruolo diretto? 299
R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17 292
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia 289
Clinical and genetic aspects Bernard-Soulier syndrome: searching for genotype/phenotype correlations. 193
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families 193
null 173
Heavy chain myosin 9-related disease (MYH9-RD): Neutrophilinclusions of myosin-9 as a pathognomonic sign of the disorder 172
MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations. 161
Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome 160
ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia 153
MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype 150
A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene 143
The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1 141
Linkage disequilibrium for DNA haplotypes near the Cystic Fibrosis locus in two South European populations 140
Investigation of MYH14 as a candidate gene in cleft lip with or without cleft palate. 139
Amplification of DNA from epithelial cells in urine 139
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. 138
Cleft lip with or without cleft palate: implication of the heavy chain of non-muscle myosin IIA 137
Mutations Identified in Thrombocytopenia THC2 Are Likely to Dysregulate ANKRD26 Expression. 136
null 135
null 133
null 132
Spectrum of the mutations in bernard-soulier syndrome. 131
Megakaryocyte and platelet abnormalities in a patient with a W33C mutation in the conserved SH3-like domain of myosin heavy chain IIA 129
null 128
null 127
Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias 127
Linkage analysis of Fanconi anaemia in Italy and mapping of the complementation group A gene 126
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes 125
Correlation between the clinical phenotype of MYH9-related disease and tissue distribution of class II non-muscle myosin heavy chains 125
Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin. 125
Mutations of the Fanconi anemia group A gene (FAA) in Italian patients 124
Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology. 124
A novel Leu153Ser mutation of the Fanconi anemia FANCD2 gene is associated with severe chemotherapy toxicity in a pediatric T-cell acute lymphoblastic leukemia. 123
Polyubiquitinated proteins, proteasome, and glycogen characterize the particle-rich cytoplasmic structure (PaCS) of neoplastic and fetal cells. 123
ACTN1 : identification of novel mutations in a cohort of Italian IMTP patients 123
Gray platelet syndrome: Novel mutations of the NBEAL2 gene 123
First trimester prenatal diagnosis of Cystic Fibrosis using the polymerase chain reaction: report of eight cases 122
Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia 122
Why the disorder induced by GATA1 Arg216Gln mutation should be called "X-linked thrombocytopenia with thalassemia" rather than "X-linked gray platelet syndrome" 120
Haplotype analysis to determine the position of a mutation among closely linked DNA markers 120
Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing 119
Role of the mutations identified in the 5’UTR of ANKRD26 responsible for an inherited form of thrombocytopenia 119
Genetic Mapping of the FACC Gene and Linkage Analysis in Fanconi Anaemia FamilIes 118
Cord blood in vitro expanded CD41+ cells: identification of novel components of megakaryocytopoiesis 118
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 117
Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders. 115
THE CYSTIC FIBROSIS GENE IS NOT LIKELY TO BE INVOLVED IN CHRONIC OBSTRUCTIVE PULMONARY DISEASE 114
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Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations. 113
null 111
Mutations in the 5′ UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2 111
A new case of acromegaloid facial appearance (AFA) syndrome with an expanded phenotype 110
MYH9: Structure, functions and role of non-muscle myosin IIA in human disease 110
(TA)8 allele in the UGT1A1 gene promoter of a Caucasian with Gilbert's syndrome. 109
Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing 109
Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients with MYH9-Related Disease 109
Mitochondrial Myopathies 108
Expression and association data strongly support JARID2 involvement in nonsyndromic cleft lip with or without cleft palate. 108
Inherited thrombocytopenia frequently diagnosed in Italy 107
Mutations of RUNX1 in families with inherited thrombocytopenia 105
null 104
An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p 103
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) 103
null 103
Positional cloning of the Fanconi anaemia group A gene 102
Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia 101
MYH9 gene mutations associated with bleeding 100
Confirmation of Kapur-Toriello syndrome in an Italian patient. 99
The characterization of the 5' region of the Fanconi Anemia Group C (FACC) gene 97
Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia 96
Regional distribution of Cystic fibrosis linked DNA haplotypes in Italy, a collaborative study 95
Worldwide survey of the deltaF508 mutation-report from the Cystic Fibrosis Genetic Analysis Consortium 94
Mutazioni nel 5’UTR del gene ANKRD26 sono responsabili di una forma autosomica dominante di trombocitopenia ereditaria, THC2. 93
Fanconi anemia patients are more susceptible to SV40 infection 93
The genotype of a new linked DNA marker, MP6-d9, is related to the clinical course of Cystic Fibrosis 92
Molecular genetic testing of Fanconi anemia: experience of the Italian Research Group on Fanconi Anemia 92
Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α‐granule deficiency 91
p53 activates Fanconi anemia group C gene expression 90
Fanconi anaemia in Italy: high prevalence of complementation group A in two geographic clusters 90
Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients. 90
Defective expression of GPIb/IX/V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome 90
Genetics, clinical and pathological features of glomerulonephrites associated with mutations of non-muscle myosin IIA (Fechtner syndrome) 89
EcoRI RFPLP in the Fanconi Anemia Complementing Group C Gene (FACC). 89
Identification of the first duplication in MYH9-related disease: A hot spot for hot unequal crossing-over within exon 24 of the MYH9 gene 89
Stable expression of mutant FANCA: is there any correlation with mild Fanconi anemia clinical? 88
Fine exon-intron structure of the Fanconi anemia group A (FAA) gene and characterization of two genomic deletions 87
Role of the mutations identified in the 5’UTR of ANKRD26 responsible for an inherited form of thrombocytopenia 87
Association of complementation group and mutation type with clinical outcome in Fanconi anemia. European Fanconi Anemia Research Group. 87
Inherited thrombocytopenias: molecular mechanisms 86
Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations 85
Combined 17a-hydroxylase/17-20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene 85
Identification of previously undescribed NBEAL2 gene mutations in a novel case of gray platelet syndrome 83
Totale 13.652
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Categoria #
all - tutte 42.680
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 42.680
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/20191.279 0 0 0 0 0 0 0 0 0 233 713 333
2019/20203.966 198 160 191 679 291 586 456 492 349 178 250 136
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
2023/20241.114 95 96 95 80 160 162 185 204 20 17 0 0
Totale 18.087