CATALOGO DEI PRODOTTI DELLA RICERCA

SAVOIA, Anna
 Distribuzione geografica
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Continente #
EU - Europa 4.145
AS - Asia 3.807
NA - Nord America 3.644
SA - Sud America 746
AF - Africa 113
OC - Oceania 15
Continente sconosciuto - Info sul continente non disponibili 2
Totale 12.472
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Nazione #
US - Stati Uniti d'America 3.569
RU - Federazione Russa 2.076
SG - Singapore 1.740
CN - Cina 746
BR - Brasile 598
FR - Francia 477
HK - Hong Kong 450
IT - Italia 431
VN - Vietnam 389
IE - Irlanda 344
DE - Germania 261
KR - Corea 183
GB - Regno Unito 170
SE - Svezia 139
FI - Finlandia 79
AR - Argentina 59
BD - Bangladesh 56
IN - India 53
ID - Indonesia 37
CA - Canada 35
ZA - Sudafrica 29
AT - Austria 27
JP - Giappone 27
EC - Ecuador 26
MX - Messico 26
NL - Olanda 26
PL - Polonia 22
CO - Colombia 20
ES - Italia 15
IQ - Iraq 15
UA - Ucraina 15
PK - Pakistan 14
TR - Turchia 14
BJ - Benin 13
TG - Togo 13
AU - Australia 12
UZ - Uzbekistan 12
VE - Venezuela 11
BE - Belgio 10
PY - Paraguay 10
TN - Tunisia 10
MA - Marocco 9
PH - Filippine 9
EG - Egitto 8
NG - Nigeria 8
PE - Perù 8
SA - Arabia Saudita 8
AZ - Azerbaigian 7
CL - Cile 7
GR - Grecia 7
AE - Emirati Arabi Uniti 6
CZ - Repubblica Ceca 6
LT - Lituania 6
AL - Albania 5
DZ - Algeria 5
JO - Giordania 5
NP - Nepal 5
RO - Romania 5
BO - Bolivia 4
DO - Repubblica Dominicana 4
KE - Kenya 4
KZ - Kazakistan 4
RS - Serbia 4
SN - Senegal 4
AO - Angola 3
HU - Ungheria 3
IL - Israele 3
KG - Kirghizistan 3
LV - Lettonia 3
AM - Armenia 2
CH - Svizzera 2
GE - Georgia 2
HN - Honduras 2
JM - Giamaica 2
KW - Kuwait 2
LA - Repubblica Popolare Democratica del Laos 2
LY - Libia 2
NO - Norvegia 2
NZ - Nuova Zelanda 2
PT - Portogallo 2
SI - Slovenia 2
TH - Thailandia 2
TT - Trinidad e Tobago 2
TW - Taiwan 2
UY - Uruguay 2
XK - ???statistics.table.value.countryCode.XK??? 2
AF - Afghanistan, Repubblica islamica di 1
BB - Barbados 1
BG - Bulgaria 1
BH - Bahrain 1
BY - Bielorussia 1
CR - Costa Rica 1
DK - Danimarca 1
ET - Etiopia 1
GN - Guinea 1
GP - Guadalupe 1
GY - Guiana 1
HR - Croazia 1
IR - Iran 1
LC - Santa Lucia 1
Totale 12.460
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Città #
Singapore 789
San Jose 671
Moscow 618
Ashburn 487
Hong Kong 447
Chandler 399
Dallas 366
Dublin 343
Verona 303
Beijing 200
Lawrence 160
Princeton 160
Sindelfingen 144
Ho Chi Minh City 133
Hanoi 101
Los Angeles 95
New York 75
Southend 73
Redondo Beach 67
Buffalo 65
Helsinki 47
The Dalles 43
Woodbridge 43
São Paulo 41
Jacksonville 36
Santa Clara 34
San Francisco 32
Munich 31
Strasbourg 29
Ann Arbor 28
London 28
Tokyo 24
Council Bluffs 22
Nuremberg 22
Chicago 20
Belo Horizonte 17
Da Nang 17
Houston 17
Jakarta 17
Phoenix 17
Warsaw 17
Amsterdam 16
Brooklyn 16
Rio de Janeiro 16
Rome 16
Toronto 16
Atlanta 15
Chennai 15
Frankfurt am Main 15
Johannesburg 15
Stockholm 14
Tianjin 14
Turku 14
Lomé 13
Brasília 12
Cotonou 12
Tashkent 12
Vienna 12
Bắc Ninh 11
Columbus 11
Haiphong 11
Meda 11
Boardman 10
Dhaka 10
Lahore 10
Orem 10
Brussels 9
Campinas 9
Guayaquil 9
Haikou 9
Hangzhou 9
Jinan 9
Mehlingen 9
Mexico City 9
Romola 9
Shanghai 9
Wilmington 9
Biên Hòa 8
Denver 8
Lappeenranta 8
Seattle 8
Ankara 7
Bogotá 7
Cape Town 7
Changsha 7
Falkenstein 7
Kochi 7
Nanjing 7
Quito 7
Sorocaba 7
Abuja 6
Baku 6
Bologna 6
Bắc Giang 6
Curitiba 6
Guangzhou 6
Manchester 6
Paris 6
Poplar 6
Salvador 6
Totale 6.859
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Nome #
Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia 205
A novel de novo GFAP variant causes a juvenile-onset Alexander disease with bilateral vocal cord paralysis 193
Mutazioni nel 5’UTR del gene ANKRD26 sono responsabili di una forma autosomica dominante di trombocitopenia ereditaria, THC2 178
Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome 170
Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations. 150
"CHildren with Inherited Platelet disorders Surveillance" (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP) 141
The cystic fibrosis gene is not likely to be involved in chronic obstructive pulmonary disease 130
Linkage disequilibrium for DNA haplotypes near the cystic fibrosis locus in two south European populations 124
A computational study of the fold and stability of cytochrome c with implications for disease 114
Thrombocytopenia 4 (THC4): Six novel families with mutations of the cytochrome c gene 106
A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation 106
Shwachman-Diamond Syndrome: Energetic Stress, Calcium Homeostasis and mTOR Pathway. 105
A new gene for inherited thrombocytopenias: clinical, pathogenetic and pharmacological studies / Un nuovo gene responsabile di piastrinopenia ereditaria:studi clinici, patogenici e farmacologici 105
Amplification of DNA from epithelial cells in urine 105
(TA)(8) allele in the UGT1A1 gene promoter of a Caucasian with Gilbert's syndrome 105
DeltaF508 gene deletion in Cystic Fibrosis in Southern Europe 101
A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene 100
ACTN1-related thrombocytopenia: Identification of novel families for phenotypic characterization 99
Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin 98
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 98
Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia 98
ACTN1 : identification of novel mutations in a cohort of Italian IMTP patients 96
. Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopaenia and absent radii (TAR) 96
ETV6-related thrombocytopenia: dominant negative effect of mutations as common pathogenic mechanism 94
Alteration of liver enzymes is a feature of the MYH9-related disease syndrome 93
A novel mutation in MECOM affects MPL regulation in vitro and results in thrombocytopenia and bone marrow failure 92
Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients with MYH9-Related Disease 92
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) 91
Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis 89
Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency 88
ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia 88
Frequency distribution of the alleles of several variable number of tandem repeat DNA polymorfisms in the Italian population 88
Defective binding of ETS1 and STAT4 due to a mutation in the promoter region of THPO as a novel mechanism of congenital amegakaryocytic thrombocytopenia 86
DeltaF508 gene deletion and prenatal diagnosis of Cystic Fibrosis in Italian and Spanish families 86
Clinical and genetic aspects Bernard-Soulier syndrome: searching for genotype/phenotype correlations 86
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families 84
Abnormal cytoplasmic extensions associated with active αIIbβ3 are probably the cause for macrothrombocytopenia in Glanzmann thrombasthenia-like syndrome 84
MYH9: Structure, functions and role of non-muscle myosin IIA in human disease 84
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup 83
Confirmation of Kapur-Toriello syndrome in an Italian patient 83
Autosomal dominant thrombocytopenias with reduced expression of glycoprotein Ia 81
Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations 81
A Novel Mutation in GP1BB Reveals the Role of the Cytoplasmic Domain of GPIbβ in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly 80
Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing 80
A novel Leu153Ser mutation of the Fanconi anemia FANCD2 gene is associated with severe chemotherapy toxicity in a pediatric T-cell acute lymphoblastic leukemia 80
Mutations Identified in Thrombocytopenia THC2 Are Likely to Dysregulate ANKRD26 Expression 79
Stable expression of mutant FANCA: is there any correlation with mild Fanconi anemia clinical? 79
Association of complementation group and mutation type with clinical outcome in Fanconi anemia. European Fanconi Anemia Research Group 79
FANCA nel mitocondrio: qualche ruolo diretto? 78
Inherited thrombocytopenia frequently diagnosed in Italy 77
Role of the mutations identified in the 5’UTR of ANKRD26 responsible for an inherited form of thrombocytopenia 77
Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients 77
Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders 76
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness 76
Mutations in the 5′ UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2 75
The genomic organization of the Fanconi anaemia group A (FAA) gene 75
Identification of three novel mutations in the PIG-A gene in paroxysmal nocturnal hemoglobinuria (PNH) patients 74
MYH9-related disease: Report on five German families and description of a novel mutation 74
Unexplained recurrent venous thrombosis in a patient with MYH9-related disease 73
A new case of acromegaloid facial appearance (AFA) syndrome with an expanded phenotype 73
Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia 73
Fanconi anemia patients are more susceptible to SV40 infection 73
Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias 73
ACTN1‐related thrombocytopenia: Homozygosity for an ACTN1 variant results in a more severe phenotype 72
Molecular basis of inherited thrombocytopenias: An update 72
Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia 72
Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome 72
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme 72
Role of the mutations identified in the 5’UTR of ANKRD26 responsible for an inherited form of thrombocytopenia 72
Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α‐granule deficiency 72
Identification of previously undescribed NBEAL2 gene mutations in a novel case of gray platelet syndrome 72
Expression cloning of a cDNA for the major Fanconi anemia gene, FAA 72
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia 71
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) 71
Characterization of copine VII, a new member of the copine family, and its exclusion as a candidate in sporadic breast cancers with LOH at 16q24.3 71
MYH9-related Disorders: Report on a Patient of Greek Origin Presenting With Macroscopic Hematuria and Presenile Cataract, Caused by an R1165C Mutation 71
ANKRD26-related thrombocytopenia and myeloid malignancies 70
Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations 70
Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim 69
An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p 69
Anemia di Fanconi: recenti progressi nella caratterizazione dei meccanismi patogenetici 69
MYH9 related disease: a novel missense Ala95Asp mutation of the MYH9 gene 69
The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1 68
Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing 68
Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible? 68
Apparent genotype–phenotype mismatch in a patient with MYH9-related disease: When the exception proves the rule 68
EcoRI RFPLP in the Fanconi Anemia Complementing Group C Gene (FACC) 67
Expression and association data strongly support JARID2 involvement in nonsyndromic cleft lip with or without cleft palate 67
New pharmacological targets in Fanconi anemia / Nuovi bersagli farmacologici nell'anemia di Fanconi 67
Molecular basis of Fanconi anemia 67
Hereditary thrombocytopenia due to reduced platelet production: report of two families and mutational screening of thrombopoietin receptor gene 66
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 66
Molecular genetic testing of Fanconi anemia: experience of the Italian Research Group on Fanconi Anemia 65
Identification of a robust DNA methylation signature for Fanconi anemia 64
Genetics, clinical and pathological features of glomerulonephrites associated with mutations of non-muscle myosin IIA (Fechtner syndrome) 64
Mutazioni di ACTN1 in pazienti italiani 64
Muatation analysis of the Fanconi A gene in breast tumours with loss of heterozygosity at 16q24.3 64
Inherited thrombocytopenia: from gene to therapy 64
Cloning of the murine nonmuscle heavy chain myosin IIA gene, ortholog of human MYH9 responsible for May-Hegglin, Sebastian, Fechtner, and Epstein syndromes 63
MYH9 gene mutations associated with bleeding 63
Totale 8.608
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Categoria #
all - tutte 54.968
article - articoli 49.067
book - libri 0
conference - conferenze 5.382
curatela - curatele 0
other - altro 519
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 109.936
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202111 0 0 0 0 0 0 0 0 0 1 6 4
2021/2022502 1 18 0 5 5 4 2 6 0 1 180 280
2022/20231.530 206 134 186 346 102 314 1 68 121 11 32 9
2023/20241.069 22 53 112 201 139 174 152 8 2 7 139 60
2024/20252.619 99 186 56 434 132 69 86 147 268 290 215 637
2025/20266.668 644 429 534 1.279 1.570 272 419 564 715 242 0 0
Totale 12.669