CATALOGO DEI PRODOTTI DELLA RICERCA

SAVOIA, Anna
 Distribuzione geografica
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Continente #
EU - Europa 3.781
AS - Asia 3.415
NA - Nord America 2.525
SA - Sud America 705
AF - Africa 92
OC - Oceania 13
Continente sconosciuto - Info sul continente non disponibili 2
Totale 10.533
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Nazione #
US - Stati Uniti d'America 2.456
RU - Federazione Russa 2.075
SG - Singapore 1.613
CN - Cina 693
BR - Brasile 571
FR - Francia 461
HK - Hong Kong 429
IE - Irlanda 342
VN - Vietnam 269
DE - Germania 252
KR - Corea 178
GB - Regno Unito 153
SE - Svezia 137
IT - Italia 136
FI - Finlandia 79
AR - Argentina 53
BD - Bangladesh 46
IN - India 39
ID - Indonesia 36
CA - Canada 32
AT - Austria 26
ZA - Sudafrica 26
MX - Messico 25
EC - Ecuador 23
JP - Giappone 23
PL - Polonia 22
NL - Olanda 20
CO - Colombia 18
BJ - Benin 13
ES - Italia 13
TG - Togo 13
UA - Ucraina 13
PK - Pakistan 12
TR - Turchia 11
VE - Venezuela 11
AU - Australia 10
BE - Belgio 9
PY - Paraguay 9
TN - Tunisia 9
UZ - Uzbekistan 9
IQ - Iraq 8
MA - Marocco 8
PE - Perù 7
AE - Emirati Arabi Uniti 6
AZ - Azerbaigian 6
CL - Cile 6
CZ - Repubblica Ceca 6
EG - Egitto 6
GR - Grecia 6
LT - Lituania 6
SA - Arabia Saudita 5
AL - Albania 4
BO - Bolivia 4
JO - Giordania 4
KE - Kenya 4
RS - Serbia 4
SN - Senegal 4
DO - Repubblica Dominicana 3
IL - Israele 3
KG - Kirghizistan 3
KZ - Kazakistan 3
NP - Nepal 3
RO - Romania 3
AM - Armenia 2
AO - Angola 2
CH - Svizzera 2
DZ - Algeria 2
GE - Georgia 2
HN - Honduras 2
HU - Ungheria 2
KW - Kuwait 2
LA - Repubblica Popolare Democratica del Laos 2
LV - Lettonia 2
NZ - Nuova Zelanda 2
TT - Trinidad e Tobago 2
UY - Uruguay 2
XK - ???statistics.table.value.countryCode.XK??? 2
BB - Barbados 1
BG - Bulgaria 1
BH - Bahrain 1
BY - Bielorussia 1
CR - Costa Rica 1
DK - Danimarca 1
GN - Guinea 1
GP - Guadalupe 1
GY - Guiana 1
HR - Croazia 1
IR - Iran 1
JM - Giamaica 1
LC - Santa Lucia 1
LK - Sri Lanka 1
LU - Lussemburgo 1
LY - Libia 1
ME - Montenegro 1
MG - Madagascar 1
ML - Mali 1
MU - Mauritius 1
OM - Oman 1
PS - Palestinian Territory 1
PT - Portogallo 1
Totale 10.528
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Città #
Singapore 697
Moscow 618
Hong Kong 428
Chandler 399
Dallas 363
Dublin 341
Beijing 199
Ashburn 174
Lawrence 160
Princeton 160
Sindelfingen 144
Ho Chi Minh City 95
Los Angeles 91
Southend 73
Redondo Beach 67
Buffalo 65
New York 65
Hanoi 61
Helsinki 47
Woodbridge 43
São Paulo 38
Jacksonville 36
San Francisco 32
Verona 32
Munich 31
Santa Clara 31
Strasbourg 29
Ann Arbor 28
London 25
The Dalles 25
Nuremberg 22
Tokyo 20
Belo Horizonte 17
Chicago 17
Houston 17
Jakarta 17
Warsaw 17
Brooklyn 16
Phoenix 16
Rio de Janeiro 16
Johannesburg 15
Toronto 15
Amsterdam 14
Chennai 14
Rome 14
Turku 14
Lomé 13
Cotonou 12
Da Nang 12
Stockholm 12
Tianjin 12
Brasília 11
Meda 11
Vienna 11
Columbus 10
Council Bluffs 10
Atlanta 9
Brussels 9
Campinas 9
Dhaka 9
Haikou 9
Jinan 9
Lahore 9
Mehlingen 9
Mexico City 9
Romola 9
San Jose 9
Tashkent 9
Wilmington 9
Boardman 8
Bắc Ninh 8
Guayaquil 8
Lappeenranta 8
Ankara 7
Biên Hòa 7
Bogotá 7
Changsha 7
Denver 7
Falkenstein 7
Haiphong 7
Hangzhou 7
Kochi 7
Nanjing 7
Seattle 7
Shanghai 7
Bắc Giang 6
Cape Town 6
Curitiba 6
Frankfurt am Main 6
Manchester 6
Orem 6
Quito 6
Baku 5
Bauru 5
Bologna 5
Boston 5
Canoas 5
Carapicuíba 5
Guangzhou 5
Guarulhos 5
Totale 5.287
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Nome #
Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia 181
Mutazioni nel 5’UTR del gene ANKRD26 sono responsabili di una forma autosomica dominante di trombocitopenia ereditaria, THC2 164
A novel de novo GFAP variant causes a juvenile-onset Alexander disease with bilateral vocal cord paralysis 153
Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome 149
Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations. 134
"CHildren with Inherited Platelet disorders Surveillance" (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP) 115
The cystic fibrosis gene is not likely to be involved in chronic obstructive pulmonary disease 112
Linkage disequilibrium for DNA haplotypes near the cystic fibrosis locus in two south European populations 108
Shwachman-Diamond Syndrome: Energetic Stress, Calcium Homeostasis and mTOR Pathway. 96
A new gene for inherited thrombocytopenias: clinical, pathogenetic and pharmacological studies / Un nuovo gene responsabile di piastrinopenia ereditaria:studi clinici, patogenici e farmacologici 94
(TA)(8) allele in the UGT1A1 gene promoter of a Caucasian with Gilbert's syndrome 91
Thrombocytopenia 4 (THC4): Six novel families with mutations of the cytochrome c gene 90
DeltaF508 gene deletion in Cystic Fibrosis in Southern Europe 90
A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene 88
Amplification of DNA from epithelial cells in urine 87
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 87
Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin 86
Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia 86
A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation 85
ACTN1 : identification of novel mutations in a cohort of Italian IMTP patients 85
ACTN1-related thrombocytopenia: Identification of novel families for phenotypic characterization 85
A computational study of the fold and stability of cytochrome c with implications for disease 84
. Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopaenia and absent radii (TAR) 84
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) 80
Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients with MYH9-Related Disease 80
Alteration of liver enzymes is a feature of the MYH9-related disease syndrome 80
ETV6-related thrombocytopenia: dominant negative effect of mutations as common pathogenic mechanism 78
Frequency distribution of the alleles of several variable number of tandem repeat DNA polymorfisms in the Italian population 75
DeltaF508 gene deletion and prenatal diagnosis of Cystic Fibrosis in Italian and Spanish families 74
ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia 73
Association of complementation group and mutation type with clinical outcome in Fanconi anemia. European Fanconi Anemia Research Group 72
Mutations Identified in Thrombocytopenia THC2 Are Likely to Dysregulate ANKRD26 Expression 71
Stable expression of mutant FANCA: is there any correlation with mild Fanconi anemia clinical? 71
A novel Leu153Ser mutation of the Fanconi anemia FANCD2 gene is associated with severe chemotherapy toxicity in a pediatric T-cell acute lymphoblastic leukemia 71
A novel mutation in MECOM affects MPL regulation in vitro and results in thrombocytopenia and bone marrow failure 70
Confirmation of Kapur-Toriello syndrome in an Italian patient 70
Inherited thrombocytopenia frequently diagnosed in Italy 70
Autosomal dominant thrombocytopenias with reduced expression of glycoprotein Ia 70
Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency 69
FANCA nel mitocondrio: qualche ruolo diretto? 69
MYH9: Structure, functions and role of non-muscle myosin IIA in human disease 69
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families 68
Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing 68
Abnormal cytoplasmic extensions associated with active αIIbβ3 are probably the cause for macrothrombocytopenia in Glanzmann thrombasthenia-like syndrome 68
Clinical and genetic aspects Bernard-Soulier syndrome: searching for genotype/phenotype correlations 68
Role of the mutations identified in the 5’UTR of ANKRD26 responsible for an inherited form of thrombocytopenia 66
Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias 66
MYH9-related disease: Report on five German families and description of a novel mutation 66
Defective binding of ETS1 and STAT4 due to a mutation in the promoter region of THPO as a novel mechanism of congenital amegakaryocytic thrombocytopenia 65
Identification of previously undescribed NBEAL2 gene mutations in a novel case of gray platelet syndrome 65
Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients 65
Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations 65
Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis 64
Unexplained recurrent venous thrombosis in a patient with MYH9-related disease 64
Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia 64
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) 64
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 64
A new case of acromegaloid facial appearance (AFA) syndrome with an expanded phenotype 63
Role of the mutations identified in the 5’UTR of ANKRD26 responsible for an inherited form of thrombocytopenia 63
Fanconi anemia patients are more susceptible to SV40 infection 63
Mutations in the 5′ UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2 63
MYH9-related Disorders: Report on a Patient of Greek Origin Presenting With Macroscopic Hematuria and Presenile Cataract, Caused by an R1165C Mutation 63
Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders 63
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 62
ANKRD26-related thrombocytopenia and myeloid malignancies 62
The genomic organization of the Fanconi anaemia group A (FAA) gene 62
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup 61
Molecular basis of inherited thrombocytopenias: An update 61
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia 61
Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome 61
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme 61
EcoRI RFPLP in the Fanconi Anemia Complementing Group C Gene (FACC) 60
The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1 60
New pharmacological targets in Fanconi anemia / Nuovi bersagli farmacologici nell'anemia di Fanconi 60
Anemia di Fanconi: recenti progressi nella caratterizazione dei meccanismi patogenetici 60
Identification of three novel mutations in the PIG-A gene in paroxysmal nocturnal hemoglobinuria (PNH) patients 59
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 59
Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α‐granule deficiency 59
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 59
Apparent genotype–phenotype mismatch in a patient with MYH9-related disease: When the exception proves the rule 59
Genetics, clinical and pathological features of glomerulonephrites associated with mutations of non-muscle myosin IIA (Fechtner syndrome) 58
Muatation analysis of the Fanconi A gene in breast tumours with loss of heterozygosity at 16q24.3 58
An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p 58
Hereditary thrombocytopenia due to reduced platelet production: report of two families and mutational screening of thrombopoietin receptor gene 57
MYH9 gene mutations associated with bleeding 56
Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing 56
Molecular genetic testing of Fanconi anemia: experience of the Italian Research Group on Fanconi Anemia 56
Expression cloning of a cDNA for the major Fanconi anemia gene, FAA 56
Expression and association data strongly support JARID2 involvement in nonsyndromic cleft lip with or without cleft palate 55
Molecular characterization of Fanconi Anaemia group C (FAC) gene polymorphisms 55
MYH9 related disease: a novel missense Ala95Asp mutation of the MYH9 gene 55
Identification of a robust DNA methylation signature for Fanconi anemia 54
Cloning of the murine nonmuscle heavy chain myosin IIA gene, ortholog of human MYH9 responsible for May-Hegglin, Sebastian, Fechtner, and Epstein syndromes 54
Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia 54
Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations 54
Genetics of familial forms of thrombocytopenia 54
Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim 53
Molecular basis of Fanconi anemia 53
Inherited thrombocytopenia: from gene to therapy 53
ACTN1‐related thrombocytopenia: Homozygosity for an ACTN1 variant results in a more severe phenotype 52
Totale 7.301
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Categoria #
all - tutte 50.976
article - articoli 45.428
book - libri 0
conference - conferenze 5.053
curatela - curatele 0
other - altro 495
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 101.952
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202116 0 0 0 0 0 0 1 2 2 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
2025/20264.729 644 429 534 1.279 1.570 272 1 0 0 0 0 0
Totale 10.730