ArTS Archivio della ricerca di Trieste

SAVOIA, ANNA
 Distribuzione geografica
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Continente #
NA - Nord America 11.211
EU - Europa 5.421
AS - Asia 1.685
SA - Sud America 34
OC - Oceania 15
Continente sconosciuto - Info sul continente non disponibili 12
AF - Africa 7
Totale 18.385
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Nazione #
US - Stati Uniti d'America 11.194
PL - Polonia 1.831
UA - Ucraina 958
IT - Italia 751
SE - Svezia 745
CN - Cina 727
SG - Singapore 411
FI - Finlandia 319
HK - Hong Kong 269
TR - Turchia 188
IE - Irlanda 173
BG - Bulgaria 166
GB - Regno Unito 161
FR - Francia 91
DE - Germania 63
BE - Belgio 55
IN - India 40
NL - Olanda 29
CH - Svizzera 24
VN - Vietnam 16
EC - Ecuador 15
AU - Australia 11
BR - Brasile 11
CA - Canada 11
KR - Corea 11
EU - Europa 10
ES - Italia 9
AT - Austria 8
CZ - Repubblica Ceca 8
RU - Federazione Russa 8
MX - Messico 6
AL - Albania 5
CL - Cile 5
RO - Romania 5
GR - Grecia 4
IL - Israele 4
JP - Giappone 4
NZ - Nuova Zelanda 4
SN - Senegal 4
A2 - ???statistics.table.value.countryCode.A2??? 2
AR - Argentina 2
DK - Danimarca 2
HU - Ungheria 2
IR - Iran 2
SA - Arabia Saudita 2
TW - Taiwan 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
TH - Thailandia 1
UZ - Uzbekistan 1
Totale 18.385
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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 690
Wilmington 677
Seattle 511
Cambridge 388
Singapore 335
Princeton 331
Hong Kong 264
Beijing 228
Dearborn 208
Izmir 174
Dublin 165
Sofia 165
Trieste 131
Boardman 122
San Diego 92
Chicago 58
Santa Clara 58
Milan 56
Hefei 51
Verona 51
Brussels 42
Des Moines 39
Nanjing 33
Buffalo 31
Kunming 31
Shanghai 30
Norwalk 29
Jinan 28
Helsinki 25
Falls Church 24
Pune 24
Dallas 22
Menlo Park 22
Washington 22
Fuzhou 17
Bern 15
Düsseldorf 15
Mestre 15
Quito 15
Redwood City 15
Dong Ket 14
Shenyang 14
Los Angeles 13
Phoenix 13
Waanrode 13
Bologna 12
Edinburgh 11
Kocaeli 11
Nanchang 11
Guangzhou 10
Hangzhou 10
Sacile 10
Paris 9
São Paulo 9
Taiyuan 9
Taizhou 9
Tappahannock 9
Zurich 9
Brno 8
Changsha 8
Napoli 8
Palermo 8
Perugia 8
Redmond 8
Seoul 8
Naples 7
New York 7
Rome 7
Wuhan 6
Amsterdam 5
Atlanta 5
Kurukshetra 5
London 5
Reggio Emilia 5
Zhengzhou 5
Birmingham 4
Dakar 4
Dongguan 4
Fremont 4
Montreal 4
Ravenna 4
San Francisco 4
Sydney 4
Turin 4
Vienna 4
Auburn Hills 3
Auckland 3
Baotou 3
Central 3
Chongqing 3
Clifton 3
Halmstad 3
Indiana 3
Totale 14.081
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Nome #
Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology 381
ACTN1-related thrombocytopenia: Identification of novel families for phenotypic characterization 358
Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia 342
Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia 330
Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome 319
Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim 315
Molecular basis of inherited thrombocytopenias 314
R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17 304
FANCA nel mitocondrio: qualche ruolo diretto? 304
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia 299
Clinical and genetic aspects Bernard-Soulier syndrome: searching for genotype/phenotype correlations. 196
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families 195
Heavy chain myosin 9-related disease (MYH9-RD): Neutrophilinclusions of myosin-9 as a pathognomonic sign of the disorder 173
null 173
ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia 165
MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations. 163
Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome 161
Investigation of MYH14 as a candidate gene in cleft lip with or without cleft palate. 153
MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype 151
Cleft lip with or without cleft palate: implication of the heavy chain of non-muscle myosin IIA 149
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 149
A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene 147
The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1 146
Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin. 145
Linkage disequilibrium for DNA haplotypes near the Cystic Fibrosis locus in two South European populations 141
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. 141
Amplification of DNA from epithelial cells in urine 140
Mutations Identified in Thrombocytopenia THC2 Are Likely to Dysregulate ANKRD26 Expression. 139
Haplotype analysis to determine the position of a mutation among closely linked DNA markers 138
Megakaryocyte and platelet abnormalities in a patient with a W33C mutation in the conserved SH3-like domain of myosin heavy chain IIA 138
Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias 138
Correlation between the clinical phenotype of MYH9-related disease and tissue distribution of class II non-muscle myosin heavy chains 135
Linkage analysis of Fanconi anaemia in Italy and mapping of the complementation group A gene 135
null 135
null 133
null 132
A novel Leu153Ser mutation of the Fanconi anemia FANCD2 gene is associated with severe chemotherapy toxicity in a pediatric T-cell acute lymphoblastic leukemia. 131
Spectrum of the mutations in bernard-soulier syndrome. 131
Role of the mutations identified in the 5’UTR of ANKRD26 responsible for an inherited form of thrombocytopenia 131
null 128
Cord blood in vitro expanded CD41+ cells: identification of novel components of megakaryocytopoiesis 127
null 127
ACTN1 : identification of novel mutations in a cohort of Italian IMTP patients 127
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes 126
Mutations of the Fanconi anemia group A gene (FAA) in Italian patients 126
Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology. 126
Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia 125
Polyubiquitinated proteins, proteasome, and glycogen characterize the particle-rich cytoplasmic structure (PaCS) of neoplastic and fetal cells. 124
Mutations in the 5′ UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2 124
First trimester prenatal diagnosis of Cystic Fibrosis using the polymerase chain reaction: report of eight cases 123
Gray platelet syndrome: Novel mutations of the NBEAL2 gene 123
Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations. 121
Why the disorder induced by GATA1 Arg216Gln mutation should be called "X-linked thrombocytopenia with thalassemia" rather than "X-linked gray platelet syndrome" 120
Genetic Mapping of the FACC Gene and Linkage Analysis in Fanconi Anaemia FamilIes 120
Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing 120
MYH9: Structure, functions and role of non-muscle myosin IIA in human disease 120
Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders. 118
THE CYSTIC FIBROSIS GENE IS NOT LIKELY TO BE INVOLVED IN CHRONIC OBSTRUCTIVE PULMONARY DISEASE 115
Expression and association data strongly support JARID2 involvement in nonsyndromic cleft lip with or without cleft palate. 115
null 114
Mutations of RUNX1 in families with inherited thrombocytopenia 114
A new case of acromegaloid facial appearance (AFA) syndrome with an expanded phenotype 112
Inherited thrombocytopenia frequently diagnosed in Italy 112
Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing 112
Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia 112
null 111
Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients with MYH9-Related Disease 111
(TA)8 allele in the UGT1A1 gene promoter of a Caucasian with Gilbert's syndrome. 110
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) 110
Mitochondrial Myopathies 110
Mutazioni nel 5’UTR del gene ANKRD26 sono responsabili di una forma autosomica dominante di trombocitopenia ereditaria, THC2. 108
An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p 106
null 104
Positional cloning of the Fanconi anaemia group A gene 103
null 103
Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia 102
MYH9 gene mutations associated with bleeding 102
Fanconi anaemia in Italy: high prevalence of complementation group A in two geographic clusters 100
Confirmation of Kapur-Toriello syndrome in an Italian patient. 100
Defective expression of GPIb/IX/V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome 100
Mitochondrial defect in Warsaw syndrome cells genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: A comparison with Fanconi anemia 100
Stable expression of mutant FANCA: is there any correlation with mild Fanconi anemia clinical? 100
p53 activates Fanconi anemia group C gene expression 99
Fanconi anemia patients are more susceptible to SV40 infection 99
EcoRI RFPLP in the Fanconi Anemia Complementing Group C Gene (FACC). 98
The characterization of the 5' region of the Fanconi Anemia Group C (FACC) gene 97
Regional distribution of Cystic fibrosis linked DNA haplotypes in Italy, a collaborative study 97
Molecular genetic testing of Fanconi anemia: experience of the Italian Research Group on Fanconi Anemia 97
Inherited thrombocytopenia caused by ANKRD26 mutations misdiagnosed and treated as myelodysplastic syndrome: report on two cases 97
Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α‐granule deficiency 96
The genotype of a new linked DNA marker, MP6-d9, is related to the clinical course of Cystic Fibrosis 94
Worldwide survey of the deltaF508 mutation-report from the Cystic Fibrosis Genetic Analysis Consortium 94
Inherited thrombocytopenias: molecular mechanisms 92
Identification of the first duplication in MYH9-related disease: A hot spot for hot unequal crossing-over within exon 24 of the MYH9 gene 92
Role of the mutations identified in the 5’UTR of ANKRD26 responsible for an inherited form of thrombocytopenia 91
Genetics, clinical and pathological features of glomerulonephrites associated with mutations of non-muscle myosin IIA (Fechtner syndrome) 90
Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients. 90
A new gene for inherited thrombocytopenias: clinical, pathogenetic and pharmacological studies / Un nuovo gene responsabile di piastrinopenia ereditaria:studi clinici, patogenici e farmacologici 90
Fine exon-intron structure of the Fanconi anemia group A (FAA) gene and characterization of two genomic deletions 88
Association of complementation group and mutation type with clinical outcome in Fanconi anemia. European Fanconi Anemia Research Group. 88
Totale 14.170
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Categoria #
all - tutte 50.800
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 50.800
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20203.608 0 0 191 679 291 586 456 492 349 178 250 136
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
2023/20241.320 95 96 95 80 160 162 185 204 20 27 116 80
2024/2025554 69 144 341 0 0 0 0 0 0 0 0 0
Totale 18.847