CATALOGO DEI PRODOTTI DELLA RICERCA

Savoia, Anna
 Distribuzione geografica
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Continente #
EU - Europa 1.558
NA - Nord America 1.283
AS - Asia 593
OC - Oceania 9
SA - Sud America 6
AF - Africa 2
Totale 3.451
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Nazione #
US - Stati Uniti d'America 1.273
FR - Francia 461
CN - Cina 394
IE - Irlanda 343
RU - Federazione Russa 229
DE - Germania 180
SG - Singapore 153
SE - Svezia 125
GB - Regno Unito 95
FI - Finlandia 54
IT - Italia 35
IN - India 12
CA - Canada 9
AU - Australia 8
NL - Olanda 7
PK - Pakistan 7
BE - Belgio 6
CZ - Repubblica Ceca 5
UA - Ucraina 5
JP - Giappone 4
VN - Vietnam 3
AT - Austria 2
AZ - Azerbaigian 2
CO - Colombia 2
ID - Indonesia 2
IL - Israele 2
KG - Kirghizistan 2
KR - Corea 2
PL - Polonia 2
RO - Romania 2
TR - Turchia 2
AE - Emirati Arabi Uniti 1
BG - Bulgaria 1
BO - Bolivia 1
BR - Brasile 1
CH - Svizzera 1
CL - Cile 1
DO - Repubblica Dominicana 1
EC - Ecuador 1
ES - Italia 1
HK - Hong Kong 1
HU - Ungheria 1
IR - Iran 1
KW - Kuwait 1
KZ - Kazakistan 1
LA - Repubblica Popolare Democratica del Laos 1
LU - Lussemburgo 1
LV - Lettonia 1
MA - Marocco 1
NZ - Nuova Zelanda 1
RS - Serbia 1
SA - Arabia Saudita 1
TH - Thailandia 1
ZA - Sudafrica 1
Totale 3.451
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Città #
Chandler 399
Dublin 342
Lawrence 161
Princeton 161
Beijing 147
Sindelfingen 145
Singapore 89
Southend 73
Woodbridge 43
Helsinki 42
Ashburn 39
Jacksonville 35
New York 35
Strasbourg 29
Ann Arbor 28
San Francisco 22
Verona 11
Houston 10
Jinan 9
Mehlingen 9
Wilmington 9
Boardman 8
Chicago 8
Haikou 8
Toronto 8
Kochi 7
Lahore 7
Nanjing 7
Brussels 6
Buffalo 6
Amsterdam 5
Los Angeles 5
Shenyang 5
Changsha 4
Melbourne 4
Paris 4
Seattle 4
Tianjin 4
Tokyo 4
Berlin 3
Dallas 3
Falls Church 3
Hangzhou 3
Hebei 3
Nanchang 3
Prague 3
Zhengzhou 3
Baku 2
Bishkek 2
Bogotá 2
Canberra 2
Delhi 2
Frankfurt am Main 2
Guangzhou 2
Kent 2
Lanzhou 2
Lappeenranta 2
London 2
Naples 2
Newark 2
Ningbo 2
Norwalk 2
Pescantina 2
Philadelphia 2
Seoul 2
Surabaya 2
Sydney 2
Taiyuan 2
Taizhou 2
Vienna 2
Warsaw 2
Washington 2
Almere Stad 1
Arezzo 1
Atlanta 1
Auckland 1
Belgrade 1
Bologna 1
Boston 1
Brno 1
Candiac 1
Casablanca 1
Centurion 1
Columbus 1
Dong Ket 1
Düsseldorf 1
Edinburgh 1
Falkenstein 1
Forest City 1
Galway 1
Kemerovo 1
Kuwait City 1
Las Vegas 1
Livigno 1
Luxembourg 1
Moscow 1
Parma 1
Phoenix 1
Portogruaro 1
Quito 1
Totale 2.044
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Nome #
Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia 105
Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations. 94
Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome 79
The cystic fibrosis gene is not likely to be involved in chronic obstructive pulmonary disease 72
Linkage disequilibrium for DNA haplotypes near the cystic fibrosis locus in two south European populations 69
Shwachman-Diamond Syndrome: Energetic Stress, Calcium Homeostasis and mTOR Pathway. 54
Mutazioni nel 5’UTR del gene ANKRD26 sono responsabili di una forma autosomica dominante di trombocitopenia ereditaria, THC2 53
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) 39
Stable expression of mutant FANCA: is there any correlation with mild Fanconi anemia clinical? 38
Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia 37
A new gene for inherited thrombocytopenias: clinical, pathogenetic and pharmacological studies / Un nuovo gene responsabile di piastrinopenia ereditaria:studi clinici, patogenici e farmacologici 36
Mutations Identified in Thrombocytopenia THC2 Are Likely to Dysregulate ANKRD26 Expression 36
Association of complementation group and mutation type with clinical outcome in Fanconi anemia. European Fanconi Anemia Research Group 35
ACTN1-related thrombocytopenia: Identification of novel families for phenotypic characterization 35
Identification of previously undescribed NBEAL2 gene mutations in a novel case of gray platelet syndrome 34
ACTN1 : identification of novel mutations in a cohort of Italian IMTP patients 33
A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene 32
Inherited thrombocytopenia frequently diagnosed in Italy 31
FANCA nel mitocondrio: qualche ruolo diretto? 31
Fanconi anemia patients are more susceptible to SV40 infection 31
Amplification of DNA from epithelial cells in urine 31
Autosomal dominant thrombocytopenias with reduced expression of glycoprotein Ia 31
ANKRD26-related thrombocytopenia and myeloid malignancies 30
Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin 30
Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients 30
Alteration of liver enzymes is a feature of the MYH9-related disease syndrome 29
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 29
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 29
Anemia di Fanconi: recenti progressi nella caratterizazione dei meccanismi patogenetici 29
EcoRI RFPLP in the Fanconi Anemia Complementing Group C Gene (FACC) 28
Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome 28
Role of the mutations identified in the 5’UTR of ANKRD26 responsible for an inherited form of thrombocytopenia 28
Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias 28
An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p 28
A novel Leu153Ser mutation of the Fanconi anemia FANCD2 gene is associated with severe chemotherapy toxicity in a pediatric T-cell acute lymphoblastic leukemia 28
. Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopaenia and absent radii (TAR) 28
DeltaF508 gene deletion and prenatal diagnosis of Cystic Fibrosis in Italian and Spanish families 27
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 27
New pharmacological targets in Fanconi anemia / Nuovi bersagli farmacologici nell'anemia di Fanconi 27
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) 27
MYH9: Structure, functions and role of non-muscle myosin IIA in human disease 27
ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia 27
Frequency distribution of the alleles of several variable number of tandem repeat DNA polymorfisms in the Italian population 27
Apparent genotype–phenotype mismatch in a patient with MYH9-related disease: When the exception proves the rule 27
Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α‐granule deficiency 26
Molecular genetic testing of Fanconi anemia: experience of the Italian Research Group on Fanconi Anemia 26
Role of the mutations identified in the 5’UTR of ANKRD26 responsible for an inherited form of thrombocytopenia 26
(TA)(8) allele in the UGT1A1 gene promoter of a Caucasian with Gilbert's syndrome 26
Effects of the R216Q mutation of GATA-1 on erythropoiesis and megakaryocytopoiesis 26
Molecular basis of inherited thrombocytopenias: An update 25
Unexplained recurrent venous thrombosis in a patient with MYH9-related disease 24
Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia 24
MYH9-related Disorders: Report on a Patient of Greek Origin Presenting With Macroscopic Hematuria and Presenile Cataract, Caused by an R1165C Mutation 24
Muatation analysis of the Fanconi A gene in breast tumours with loss of heterozygosity at 16q24.3 24
Cloning of the murine nonmuscle heavy chain myosin IIA gene, ortholog of human MYH9 responsible for May-Hegglin, Sebastian, Fechtner, and Epstein syndromes 23
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families 23
Abnormal cytoplasmic extensions associated with active αIIbβ3 are probably the cause for macrothrombocytopenia in Glanzmann thrombasthenia-like syndrome 23
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme 23
Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim 22
Confirmation of Kapur-Toriello syndrome in an Italian patient 21
p53 activates Fanconi anemia group C gene expression 21
Molecular Genetic Testing of Fanconi Anemia: Experience of the Italian Research Group on Fanconi Anemia 21
Mutazioni di ACTN1 in pazienti italiani 21
Gray Platelet Syndrome: association of NBEAL2 mutations with thrombocytopenia and absence of alpha-granules in platelets 21
"CHildren with Inherited Platelet disorders Surveillance" (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP) 20
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia 20
Mitochondrial Myopathies 20
MYH9 related disease: a novel missense Ala95Asp mutation of the MYH9 gene 20
DeltaF508 gene deletion in Cystic Fibrosis in Southern Europe 19
Genetics of familial forms of thrombocytopenia 19
The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1 18
Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients with MYH9-Related Disease 18
Thrombocytopenia 4 (THC4): Six novel families with mutations of the cytochrome c gene 17
Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency 17
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes 17
Molecular characterization of Fanconi Anaemia group C (FAC) gene polymorphisms 17
Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible? 17
Molecular basis of Fanconi anemia 17
Nonmuscle Myosin Heavy-Chain Gene MYH14 Is Expressed in Cochlea and Mutated in Patients Affected by Autosomal Dominant Hearing Impairment (DFNA4) 17
Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation 17
Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations 17
R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17 16
A new case of acromegaloid facial appearance (AFA) syndrome with an expanded phenotype 16
Basi Molecolari delle aplasie molecolari 16
Inherited thrombocytopenia: from gene to therapy 16
Characterization and screening for mutations in breast cancer of the growth arrest specific 11 (GAS11) and C16orf3 genes at 16q24.3 16
Dominant inheritance of a novel integrin β3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families 15
MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations 15
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 15
Clinical and genetic aspects Bernard-Soulier syndrome: searching for genotype/phenotype correlations 15
Correlation between the clinical phenotype of MYH9-related disease and tissue distribution of class II nonmuscle myosin heavy chains 15
Defective expression of GPIb/IX/V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome 15
Identification of three novel mutations in the PIG-A gene in paroxysmal nocturnal hemoglobinuria (PNH) patients 15
Identification of the first duplication in MYH9-related disease: A hot spot for hot unequal crossing-over within exon 24 of the MYH9 gene 15
Genetics, clinical and pathological features of glomerulonephrites associated with mutations of non-muscle myosin IIA (Fechtner syndrome) 15
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 15
Mitochondrial defect in Warsaw syndrome cells genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: A comparison with Fanconi anemia 15
Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders 15
Mutations in the 5′ UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2 15
Polyubiquitinated proteins, proteasome, and glycogen characterize the particle-rich cytoplasmic structure (PaCS) of neoplastic and fetal cells 15
Totale 2.721
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Categoria #
all - tutte 25.636
article - articoli 22.570
book - libri 0
conference - conferenze 2.831
curatela - curatele 0
other - altro 235
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 51.272
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202046 0 2 1 4 6 7 3 4 1 5 4 9
2020/202166 9 14 7 8 5 7 1 2 2 1 6 4
2021/2022505 1 18 0 5 5 4 2 6 0 1 181 282
2022/20231.535 207 134 187 348 102 315 1 68 121 11 32 9
2023/20241.074 22 53 112 202 140 175 153 8 2 7 140 60
2024/2025237 100 137 0 0 0 0 0 0 0 0 0 0
Totale 3.632