CATALOGO DEI PRODOTTI DELLA RICERCA

SAVOIA, Anna
 Distribuzione geografica
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Continente #
NA - Nord America 4.819
EU - Europa 4.243
AS - Asia 3.898
SA - Sud America 784
Continente sconosciuto - Info sul continente non disponibili 201
AF - Africa 115
OC - Oceania 15
Totale 14.075
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Nazione #
US - Stati Uniti d'America 4.676
RU - Federazione Russa 2.076
SG - Singapore 1.755
CN - Cina 769
BR - Brasile 614
IT - Italia 488
FR - Francia 482
HK - Hong Kong 454
VN - Vietnam 393
IE - Irlanda 344
DE - Germania 262
GB - Regno Unito 190
KR - Corea 183
SE - Svezia 140
BD - Bangladesh 88
FI - Finlandia 80
CA - Canada 63
AR - Argentina 62
IN - India 54
ID - Indonesia 39
EC - Ecuador 30
NL - Olanda 29
ZA - Sudafrica 29
JP - Giappone 28
AT - Austria 27
MX - Messico 27
CO - Colombia 24
PL - Polonia 22
ES - Italia 18
UA - Ucraina 17
VE - Venezuela 17
IQ - Iraq 15
TR - Turchia 15
PK - Pakistan 14
BJ - Benin 13
TG - Togo 13
AU - Australia 12
UZ - Uzbekistan 12
PY - Paraguay 11
BE - Belgio 10
JM - Giamaica 10
TN - Tunisia 10
MA - Marocco 9
PE - Perù 9
PH - Filippine 9
SA - Arabia Saudita 9
CL - Cile 8
EG - Egitto 8
NG - Nigeria 8
AE - Emirati Arabi Uniti 7
AZ - Azerbaigian 7
CR - Costa Rica 7
GR - Grecia 7
CZ - Repubblica Ceca 6
LT - Lituania 6
TT - Trinidad e Tobago 6
AL - Albania 5
BO - Bolivia 5
DO - Repubblica Dominicana 5
DZ - Algeria 5
EE - Estonia 5
JO - Giordania 5
NI - Nicaragua 5
NP - Nepal 5
RO - Romania 5
GE - Georgia 4
KE - Kenya 4
KZ - Kazakistan 4
RS - Serbia 4
SN - Senegal 4
AO - Angola 3
BB - Barbados 3
GD - Grenada 3
HN - Honduras 3
HU - Ungheria 3
IL - Israele 3
KG - Kirghizistan 3
LV - Lettonia 3
MY - Malesia 3
UY - Uruguay 3
AM - Armenia 2
CH - Svizzera 2
KW - Kuwait 2
LA - Repubblica Popolare Democratica del Laos 2
LC - Santa Lucia 2
LY - Libia 2
NO - Norvegia 2
NZ - Nuova Zelanda 2
PT - Portogallo 2
QA - Qatar 2
SI - Slovenia 2
TH - Thailandia 2
TW - Taiwan 2
XK - ???statistics.table.value.countryCode.XK??? 2
AF - Afghanistan, Repubblica islamica di 1
BG - Bulgaria 1
BH - Bahrain 1
BM - Bermuda 1
BS - Bahamas 1
BY - Bielorussia 1
Totale 13.850
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Città #
San Jose 812
Singapore 797
Ashburn 643
Moscow 618
Hong Kong 451
Chandler 399
Dallas 377
Dublin 343
Verona 306
Beijing 210
Council Bluffs 210
Lawrence 161
Princeton 160
Sindelfingen 144
Ho Chi Minh City 134
Los Angeles 109
Hanoi 103
New York 85
Southend 73
Buffalo 67
Redondo Beach 67
Santa Clara 58
Helsinki 47
The Dalles 43
Woodbridge 43
São Paulo 42
Jacksonville 37
San Francisco 35
Chicago 33
Munich 31
Strasbourg 29
Ann Arbor 28
London 28
Tokyo 25
Brooklyn 24
Houston 24
Nuremberg 22
Rome 22
Atlanta 21
Phoenix 21
Toronto 18
Belo Horizonte 17
Da Nang 17
Jakarta 17
Warsaw 17
Amsterdam 16
Brasília 16
Frankfurt am Main 16
Rio de Janeiro 16
Chennai 15
Columbus 15
Johannesburg 15
Stockholm 14
Tianjin 14
Turku 14
Lomé 13
Cotonou 12
Tashkent 12
Vienna 12
Bắc Ninh 11
Cleveland 11
Haiphong 11
Meda 11
Orem 11
Shanghai 11
Boardman 10
Bogotá 10
Denver 10
Dhaka 10
Lahore 10
Las Vegas 10
Montreal 10
Seattle 10
Wilmington 10
Brussels 9
Campinas 9
Guayaquil 9
Haikou 9
Hangzhou 9
Jinan 9
Mehlingen 9
Mexico City 9
Newark 9
Philadelphia 9
Romola 9
Biên Hòa 8
Charlotte 8
Lappeenranta 8
Milan 8
Quito 8
Ankara 7
Bologna 7
Cape Town 7
Changsha 7
Falkenstein 7
Kochi 7
Manchester 7
Nanjing 7
Naples 7
North Hollywood 7
Totale 7.533
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Nome #
Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia 217
A novel de novo GFAP variant causes a juvenile-onset Alexander disease with bilateral vocal cord paralysis 213
Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome 184
Mutazioni nel 5’UTR del gene ANKRD26 sono responsabili di una forma autosomica dominante di trombocitopenia ereditaria, THC2 181
ACTN1 : identification of novel mutations in a cohort of Italian IMTP patients 174
Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations. 161
"CHildren with Inherited Platelet disorders Surveillance" (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP) 149
The cystic fibrosis gene is not likely to be involved in chronic obstructive pulmonary disease 137
Linkage disequilibrium for DNA haplotypes near the cystic fibrosis locus in two south European populations 136
A computational study of the fold and stability of cytochrome c with implications for disease 130
Shwachman-Diamond Syndrome: Energetic Stress, Calcium Homeostasis and mTOR Pathway. 116
Amplification of DNA from epithelial cells in urine 116
Thrombocytopenia 4 (THC4): Six novel families with mutations of the cytochrome c gene 113
(TA)(8) allele in the UGT1A1 gene promoter of a Caucasian with Gilbert's syndrome 113
A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation 112
Clinical and genetic aspects Bernard-Soulier syndrome: searching for genotype/phenotype correlations 112
A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene 112
ACTN1-related thrombocytopenia: Identification of novel families for phenotypic characterization 110
A new gene for inherited thrombocytopenias: clinical, pathogenetic and pharmacological studies / Un nuovo gene responsabile di piastrinopenia ereditaria:studi clinici, patogenici e farmacologici 108
DeltaF508 gene deletion in Cystic Fibrosis in Southern Europe 106
. Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopaenia and absent radii (TAR) 106
ACTN1‐related thrombocytopenia: Homozygosity for an ACTN1 variant results in a more severe phenotype 105
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 105
Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin 104
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families 103
Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia 103
A novel mutation in MECOM affects MPL regulation in vitro and results in thrombocytopenia and bone marrow failure 102
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 101
Defective binding of ETS1 and STAT4 due to a mutation in the promoter region of THPO as a novel mechanism of congenital amegakaryocytic thrombocytopenia 100
ETV6-related thrombocytopenia: dominant negative effect of mutations as common pathogenic mechanism 100
Alteration of liver enzymes is a feature of the MYH9-related disease syndrome 99
ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia 99
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) 98
Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients with MYH9-Related Disease 98
Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency 97
Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis 96
DeltaF508 gene deletion and prenatal diagnosis of Cystic Fibrosis in Italian and Spanish families 96
MYH9: Structure, functions and role of non-muscle myosin IIA in human disease 93
Frequency distribution of the alleles of several variable number of tandem repeat DNA polymorfisms in the Italian population 93
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup 92
Abnormal cytoplasmic extensions associated with active αIIbβ3 are probably the cause for macrothrombocytopenia in Glanzmann thrombasthenia-like syndrome 92
Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations 92
Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia 91
The genomic organization of the Fanconi anaemia group A (FAA) gene 90
Confirmation of Kapur-Toriello syndrome in an Italian patient 88
A novel Leu153Ser mutation of the Fanconi anemia FANCD2 gene is associated with severe chemotherapy toxicity in a pediatric T-cell acute lymphoblastic leukemia 88
Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing 87
Mutations in the 5′ UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2 87
Expression cloning of a cDNA for the major Fanconi anemia gene, FAA 86
Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients 86
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 85
Autosomal dominant thrombocytopenias with reduced expression of glycoprotein Ia 85
Association of complementation group and mutation type with clinical outcome in Fanconi anemia. European Fanconi Anemia Research Group 84
Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible? 84
FANCA nel mitocondrio: qualche ruolo diretto? 82
Role of the mutations identified in the 5’UTR of ANKRD26 responsible for an inherited form of thrombocytopenia 82
Stable expression of mutant FANCA: is there any correlation with mild Fanconi anemia clinical? 82
Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders 82
MYH9 related disease: a novel missense Ala95Asp mutation of the MYH9 gene 82
Unexplained recurrent venous thrombosis in a patient with MYH9-related disease 81
Molecular basis of inherited thrombocytopenias: An update 81
MYH9-related Disorders: Report on a Patient of Greek Origin Presenting With Macroscopic Hematuria and Presenile Cataract, Caused by an R1165C Mutation 81
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia 80
Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia 80
Mutations Identified in Thrombocytopenia THC2 Are Likely to Dysregulate ANKRD26 Expression 80
Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias 80
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme 79
Inherited thrombocytopenia frequently diagnosed in Italy 79
Fanconi anemia patients are more susceptible to SV40 infection 79
MYH9-related disease: Report on five German families and description of a novel mutation 79
Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations 79
A new case of acromegaloid facial appearance (AFA) syndrome with an expanded phenotype 78
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) 78
ANKRD26-related thrombocytopenia and myeloid malignancies 77
Expression and association data strongly support JARID2 involvement in nonsyndromic cleft lip with or without cleft palate 77
Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome 77
Identification of three novel mutations in the PIG-A gene in paroxysmal nocturnal hemoglobinuria (PNH) patients 77
Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α‐granule deficiency 77
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 77
Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim 76
Spectrum of the mutations in bernard-soulier syndrome 76
Identification of previously undescribed NBEAL2 gene mutations in a novel case of gray platelet syndrome 75
Role of the mutations identified in the 5’UTR of ANKRD26 responsible for an inherited form of thrombocytopenia 74
Molecular basis of Fanconi anemia 74
Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation 74
The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1 73
Muatation analysis of the Fanconi A gene in breast tumours with loss of heterozygosity at 16q24.3 73
Apparent genotype–phenotype mismatch in a patient with MYH9-related disease: When the exception proves the rule 73
EcoRI RFPLP in the Fanconi Anemia Complementing Group C Gene (FACC) 72
Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing 72
New pharmacological targets in Fanconi anemia / Nuovi bersagli farmacologici nell'anemia di Fanconi 72
An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p 72
Anemia di Fanconi: recenti progressi nella caratterizazione dei meccanismi patogenetici 72
Inherited Thrombocytopenia Related Genes: GPS2 Mediates the Interplay Between ANKRD26 and ETV6 70
Identification of a robust DNA methylation signature for Fanconi anemia 70
Cloning of the murine nonmuscle heavy chain myosin IIA gene, ortholog of human MYH9 responsible for May-Hegglin, Sebastian, Fechtner, and Epstein syndromes 70
MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype 70
Genetics, clinical and pathological features of glomerulonephrites associated with mutations of non-muscle myosin IIA (Fechtner syndrome) 69
Inherited thrombocytopenia: from gene to therapy 69
Phoshatase inhibitor activate normal and defective CFTR chloride channels 68
Totale 9.515
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Categoria #
all - tutte 65.858
article - articoli 58.997
book - libri 0
conference - conferenze 6.288
curatela - curatele 0
other - altro 573
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 131.716
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022483 0 0 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
2025/20266.878 644 429 534 1.279 1.570 272 419 564 715 258 88 106
2026/20271.196 206 273 319 398 0 0 0 0 0 0 0 0
Totale 14.075