IRIS
SANTACROCE, ROSA
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
EU - Europa 2.347
NA - Nord America 2.260
AS - Asia 960
SA - Sud America 9
OC - Oceania 3
Continente sconosciuto - Info sul continente non disponibili 2
Totale 5.581
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 2.244
IE - Irlanda 729
CN - Cina 678
UA - Ucraina 480
SE - Svezia 374
IT - Italia 294
FR - Francia 123
FI - Finlandia 109
SG - Singapore 109
IN - India 95
DE - Germania 86
TR - Turchia 61
GB - Regno Unito 52
BE - Belgio 25
NL - Olanda 22
AT - Austria 21
CA - Canada 15
CZ - Repubblica Ceca 15
RU - Federazione Russa 9
IR - Iran 7
AR - Argentina 6
IQ - Iraq 3
AU - Australia 2
EU - Europa 2
JP - Giappone 2
RO - Romania 2
BA - Bosnia-Erzegovina 1
BO - Bolivia 1
CH - Svizzera 1
CO - Colombia 1
DO - Repubblica Dominicana 1
HR - Croazia 1
ID - Indonesia 1
KR - Corea 1
NO - Norvegia 1
NZ - Nuova Zelanda 1
PL - Polonia 1
PT - Portogallo 1
QA - Qatar 1
TH - Thailandia 1
VE - Venezuela 1
VN - Vietnam 1
Totale 5.581
Salva come PNG Salva come JPEG
Città #
Dublin 729
Chandler 460
Jacksonville 338
Nyköping 242
Dearborn 212
Nanjing 162
Ashburn 98
Wilmington 89
Beijing 81
Singapore 77
Princeton 75
Nanchang 74
Ann Arbor 65
Foggia 65
San Mateo 61
New York 59
Boardman 55
Helsinki 47
Shenyang 37
Woodbridge 36
Munich 33
Tianjin 33
Bari 30
Hilden 28
Jiaxing 25
Changsha 24
Hebei 24
Jinan 24
Kunming 22
Vienna 21
Des Moines 20
Shanghai 20
Hangzhou 19
Brussels 17
Brno 15
Guangzhou 14
Los Angeles 13
Pune 13
Zhengzhou 13
Changchun 11
Lanzhou 10
London 10
Rome 10
Ningbo 9
Augusta 8
Fuzhou 8
San Severo 8
Waanrode 8
Shenzhen 7
Auburn Hills 6
Orange 6
Borås 5
Buenos Aires 5
Cedar Knolls 5
Cutrofiano 5
Florence 5
Kelowna 5
Naples 5
Redwood City 5
Seattle 5
Toronto 5
Amsterdam 4
Cepagatti 4
Chicago 4
Taranto 4
Baghdad 3
Espoo 3
Frankfurt am Main 3
Grottaglie 3
Hefei 3
Leawood 3
Milan 3
Mola di Bari 3
Poli 3
Rui'an 3
Strasbourg 3
Taizhou 3
Washington 3
Altamura 2
Genoa 2
Ghisalba 2
Haikou 2
Mountain View 2
Norwalk 2
Nutley 2
Palermo 2
Palo del Colle 2
Perth 2
Pietramontecorvino 2
Ravenna 2
Redmond 2
Saint Petersburg 2
San Cesario di Lecce 2
San Francisco 2
San Giovanni Rotondo 2
Vicenza 2
Acquaviva delle Fonti 1
Altamonte Springs 1
Ancona 1
Ardabil 1
Totale 3.716
Salva come PNG Salva come JPEG
Nome #
A platelet defect modulates bleeding in mild hemophilia: the tale of 2 brothers. 108
ADAMTS13 MUTATIONS AND POLYMORPHISMS IN CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA. 101
A frameshift mutation in the human fibrinogen Aalpha-chain gene (Aalpha(499)Ala frameshift stop) leading to dysfibrinogen San Giovanni Rotondo 100
ETEROGENEITA' FENOTIPICA NELLE IPERFENILALANINEMIE ALL'INTERNO DELLO STESSO NUCLEO FAMILIARE. 100
ABCB1 SNP rs4148738 modulation of apixaban interindividual variability 100
Mutation of the angiopoietin-1 gene (ANGPT1) associates with a new type of hereditary angioedema. 100
A G-to A mutation in IVS-3 of the human gamma fibrinogen gene causing afibrinogenemia due to abnormal RNA splicing 100
A polymorfism in VKORC1 gene is associated with an interindividual variability in the dose-anticoagulation effect of warfarin. 99
In the presence of other inherited or acquired high-risk situations, the Factor V Cambridge mutation may be an additional thrombophilic risk, through its effect on APC sensitivity 96
Characterization of patients with angioedema without wheals: the importance of F12 gene screening 95
COESISTENZA DI DUE PATOLOGIE RARE: TROMBOASTENIA DI GLANZMANN E SINDROME DI KARTAGENER 94
Detection of new deletions in a group of Italian patients with Hemophilia A by multiplex ligation-dependent probe amplification 93
A comprehensive on-line digestion-liquid chromatography/mass spectrometry/collision-induced dissociation mass spectrometry approach for the characterization of human fibrinogen. 90
In vitroresidual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU 90
ANALISI MOLECOLARE E CORRELAZIONE GENOTIPO-FENOTIPO IN FAMIGLIE CON IPERFENILALANINEMIE. 89
A successful pregnancy in a woman with late-onset combined homocystinuria and methylmalonic aciduria 89
A new case of combined factor V and factor VIII deficiency further suggests that the LMAN1 M1T mutation is a frequent cause in Italian patients. 87
ABCB1 SNP rs4148738 modulation of apixaban interindividual variability 87
Characterization of hemoglobin bassett (alpha94Asp-->Ala), a variant with very low oxygen affinity. 83
Polymorphisms in genes involved in autoimmune disease and the risk of FVIII inhibitor development in Italian patients with haemophilia A. 83
Coexistence of beta-thalassemia and hereditary hemochromatosis in homozygosity: a possible synergic effect? 83
The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype 83
A New SERPINA-1 Missense Mutation Associated with Alpha-1 Antitrypsin Deficiency and Bronchiectasis 83
Polymorphisms in genes involved in autoimmune disease and the risk of FVIII inhibitor development in Italian patients with haemophilia A 82
Inherited abnormalities of fibrinogen: 10-year clinical experience of an Italian group. 81
A NOVEL NONSENSE TET2 MUTATION IN A PATIENT WITH PRIMARY MYELOFIBROSIS. 81
Identification of fetal gender in maternal blood is a helpful tool in the prenatal diagnosis of haemophilia 80
Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A. 80
Analysis of clinically relevant single-nucleotide polymorphisms by use of microelectronic array technology. 80
Angiopoietin-1 haploinsufficiency affects the endothelial barrier and causes hereditary angioedema 80
A polymorphism in the VKORC1 gene is associated with an interindividual variability in the dose-anticoagulant effect of warfarin 79
Clinical counselling in congenital fibrinogen disorders 78
Intra-familiar discordant PKU phenotype explained by mutation analysis in three pedigrees. 76
A simple two-color array-based approach for mutation detection 75
Identification of GLA gene deletions in Fabry patients by Multiplex Ligation-dependent Probe Amplification (MLPA) 75
Mutation analysis in hyperphenylalaninemia patients from South Italy. 74
A novel allele variant of the SERPINF2 gene responsible for severe plasmin inhibitor (α2-antiplasmin) deficiency in an Italian patient 74
The Genetics of Hereditary Angioedema: A Review 74
A description of a new case of combined Factor V and Factor VIII deficiency: the LMAN1 M1T is a frequent cause in Italian patients. 73
Clinical histories and molecular characterization of two afibrinogenemic patients: insights into clinical management. 73
Small Supernumerary Marker Chromosome Originating From Chromosome 10 Associated With an Apparently Normal Phenotype’ 71
Polymorphic changes in the 5' flanking region of factor VII have a combined effect on promoter strength 70
Homozygosity by descent of a 3Mb chromosome 17 haplotype causes coinheritance of Glanzmann thrombasthenia and primary ciliary dyskinesia 70
Prenatal diagnosis of haemophilia B: the Italian experience. 69
Identification of FVIII gene mutations in patients with hemophilia A using new combinatorial sequencing by hybridization. 69
Factor V Arg2074Cys: a novel missense mutation in the C2 domain of factor V. 68
Deep intronic variations may cause mild hemophilia A. 67
Clinical utility of screening for CALR gene exon 9 mutations in patients with splanchnic venous thrombosis 66
Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss. 65
Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene 65
Low protein Z levels and risk of occurrence of deep vein thrombosis 65
Screening of mutations of hemophilia A in 40 Italian patients: a novel G-to-A mutation in intron 10 of the F8 gene as a putative cause of mild hemophilia A in southern Italy 65
The risk of occurrence of venous thrombosis: focus on protein Z. 65
Polymorphisms in genes involved in autoimmune disease and the risk of FVIII inhibitor development in Italian patients with haemophilia A 65
A Novel KCNN2 Variant in a Family with Essential Tremor Plus: Clinical Characteristics and In Silico Analysis 65
Phenylalanine hydroxylase deficiency in south Italy: Genotype-phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsiveness 64
Familial X;Y translocation with distinct phenotypic consequences: Characterization using FISH and array CGH. 63
A myoferlin gain-of-function variant associates with a new type of hereditary angioedema 62
null 61
The Genetics of Hereditary Angioedema: A Review 60
Factor VIII gene (F8) mutations as predictors of outcome in immune tolerance induction (ITI) of hemophilia A patients with high-responding inhibitors 58
Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene 58
The first case of a small supernumerary marker chromosome derived from chromosome 10 in an adult woman with an apparently normal phenotype 56
Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene. 54
The spectrum of subclinical Best Vitelliform Macular Dystrophy in subjects with mutations in BEST1 gene. 53
Double de novo mutations in dilated cardiomyopathy with cardiac arrest 53
Novel AKAP9 mutation and long QT syndrome in a patient with torsades des pointes 53
THE MOLECULAR ORGANIZATION OF ENDOTHELIAL JUNCTIONS IN VASCULAR PERMEABILITY 52
ABCB1 SNP rs4148738 modulation of apixaban interindividual variability 50
Identification of ten novel mutations in factor VIII gene: A study of a cohort of 52 haemophilia A patients 49
Identification of the Novel G250R Variant Indicates a Role for Thrombomodulin in Modulating the Risk for Venous Thromboembolism 48
null 48
null 45
Identification of the Novel G250R Variant Indicates a Role for Thrombomodulin in Modulating the Risk for Venous Thromboembolism 43
ABCB1 SNP rs4148738 modulation of apixaban interindividual variability 43
Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene. 42
Severe bleeding and absent ADP-induced platelet aggregation associated with inherited combined CalDAG-GEFI and P2Y12 deficiencies. 39
Protein Z gene polymorphisms are associated with protein Z plasma levels 29
Prospective evaluation of pregnancy outcome in an Italian woman with late-onset combined homocystinuria and methylmalonic aciduria 29
Severe bleeding and absent ADP-induced platelet aggregation associated with inherited combined CalDAG-GEFI and P2Y12 deficiencies 25
Polymorphic miRNA-mediated gene contribution to inhibitor development in haemophilia A 23
A Novel DLG1 Variant in a Family with Brugada Syndrome: Clinical Characteristics and In Silico Analysis 18
Towards the genetic basis of cerebral venous thrombosis-the BEAST Consortium: a study protocol. 17
De Novo p.Asp3368Gly Variant of Dystrophin Gene Associated with X-Linked Dilated Cardiomyopathy and Skeletal Myopathy: Clinical Features and In Silico Analysis 10
Age of onset of cerebral venous thrombosis: the BEAST study 8
Investigation of a Large Kindred Reveals Cardiac Calsequestrin (CASQ2) as a Cause of Brugada Syndrome 8
DAB2IP associates with hereditary angioedema: Insights into the role of VEGF signaling in HAE pathophysiology 7
An Atypical Case of Idiopathic Nonhistaminergic Angioedema With Anti-C1-INH Antibodies 7
Totale 5.788
Salva come PNG Salva come JPEG
Categoria #
all - tutte 30.088
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 30.088
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020691 0 0 0 0 119 129 181 16 104 23 109 10
2020/2021642 80 7 75 4 74 34 90 21 145 107 3 2
2021/2022454 67 1 12 11 39 6 4 36 60 55 37 126
2022/20231.899 159 81 104 132 126 166 11 177 855 13 40 35
2023/2024437 56 25 31 15 31 110 57 23 3 7 4 75
2024/2025259 71 28 63 70 27 0 0 0 0 0 0 0
Totale 5.788