IRIS
SANTACROCE, ROSA
 Distribuzione geografica
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Continente #
EU - Europa 2.252
NA - Nord America 2.223
AS - Asia 764
SA - Sud America 8
OC - Oceania 3
Continente sconosciuto - Info sul continente non disponibili 2
Totale 5.252
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Nazione #
US - Stati Uniti d'America 2.209
IE - Irlanda 728
CN - Cina 593
UA - Ucraina 480
SE - Svezia 373
IT - Italia 271
FR - Francia 123
IN - India 94
FI - Finlandia 93
TR - Turchia 61
DE - Germania 51
GB - Regno Unito 49
BE - Belgio 25
NL - Olanda 22
AT - Austria 21
CA - Canada 13
RU - Federazione Russa 8
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
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
SG - Singapore 1
VE - Venezuela 1
Totale 5.252
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Città #
Dublin 728
Chandler 460
Jacksonville 338
Nyköping 242
Dearborn 212
Nanjing 162
Ashburn 98
Wilmington 89
Beijing 79
Princeton 75
Nanchang 74
Ann Arbor 65
Foggia 65
San Mateo 61
New York 59
Shenyang 37
Woodbridge 36
Boardman 35
Helsinki 34
Tianjin 33
Hilden 28
Changsha 24
Hebei 24
Jinan 23
Kunming 22
Bari 21
Jiaxing 21
Vienna 21
Des Moines 20
Hangzhou 19
Brussels 17
Pune 13
Zhengzhou 13
Changchun 11
Lanzhou 10
Rome 10
London 9
Ningbo 9
Augusta 8
Los Angeles 8
San Severo 8
Waanrode 8
Auburn Hills 6
Fuzhou 6
Guangzhou 6
Orange 6
Borås 5
Buenos Aires 5
Cedar Knolls 5
Cutrofiano 5
Florence 5
Kelowna 5
Redwood City 5
Seattle 5
Shanghai 5
Toronto 5
Amsterdam 4
Cepagatti 4
Chicago 4
Taranto 4
Baghdad 3
Grottaglie 3
Hefei 3
Leawood 3
Milan 3
Mola di Bari 3
Poli 3
Strasbourg 3
Taizhou 3
Washington 3
Genoa 2
Ghisalba 2
Haikou 2
Mountain View 2
Naples 2
Norwalk 2
Nutley 2
Palermo 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
Altamura 1
Ancona 1
Ardabil 1
Arzano 1
Auckland 1
Bitonto 1
Bogotá 1
Bolu 1
Brindisi 1
Buffalo 1
Canosa Di Puglia 1
Totale 3.496
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Nome #
A platelet defect modulates bleeding in mild hemophilia: the tale of 2 brothers. 103
ETEROGENEITA' FENOTIPICA NELLE IPERFENILALANINEMIE ALL'INTERNO DELLO STESSO NUCLEO FAMILIARE. 100
ADAMTS13 MUTATIONS AND POLYMORPHISMS IN CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA. 98
Mutation of the angiopoietin-1 gene (ANGPT1) associates with a new type of hereditary angioedema. 98
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 95
A frameshift mutation in the human fibrinogen Aalpha-chain gene (Aalpha(499)Ala frameshift stop) leading to dysfibrinogen San Giovanni Rotondo 94
Characterization of patients with angioedema without wheals: the importance of F12 gene screening 94
ABCB1 SNP rs4148738 modulation of apixaban interindividual variability 94
COESISTENZA DI DUE PATOLOGIE RARE: TROMBOASTENIA DI GLANZMANN E SINDROME DI KARTAGENER 93
A polymorfism in VKORC1 gene is associated with an interindividual variability in the dose-anticoagulation effect of warfarin. 92
A G-to A mutation in IVS-3 of the human gamma fibrinogen gene causing afibrinogenemia due to abnormal RNA splicing 92
ANALISI MOLECOLARE E CORRELAZIONE GENOTIPO-FENOTIPO IN FAMIGLIE CON IPERFENILALANINEMIE. 88
In vitroresidual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU 87
A comprehensive on-line digestion-liquid chromatography/mass spectrometry/collision-induced dissociation mass spectrometry approach for the characterization of human fibrinogen. 85
Detection of new deletions in a group of Italian patients with Hemophilia A by multiplex ligation-dependent probe amplification 84
A successful pregnancy in a woman with late-onset combined homocystinuria and methylmalonic aciduria 84
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. 81
ABCB1 SNP rs4148738 modulation of apixaban interindividual variability 81
Characterization of hemoglobin bassett (alpha94Asp-->Ala), a variant with very low oxygen affinity. 80
Polymorphisms in genes involved in autoimmune disease and the risk of FVIII inhibitor development in Italian patients with haemophilia A. 80
Coexistence of beta-thalassemia and hereditary hemochromatosis in homozygosity: a possible synergic effect? 80
The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype 80
Inherited abnormalities of fibrinogen: 10-year clinical experience of an Italian group. 79
Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A. 78
Analysis of clinically relevant single-nucleotide polymorphisms by use of microelectronic array technology. 78
Identification of fetal gender in maternal blood is a helpful tool in the prenatal diagnosis of haemophilia 77
Polymorphisms in genes involved in autoimmune disease and the risk of FVIII inhibitor development in Italian patients with haemophilia A 77
A New SERPINA-1 Missense Mutation Associated with Alpha-1 Antitrypsin Deficiency and Bronchiectasis 77
Clinical counselling in congenital fibrinogen disorders 76
A NOVEL NONSENSE TET2 MUTATION IN A PATIENT WITH PRIMARY MYELOFIBROSIS. 76
Intra-familiar discordant PKU phenotype explained by mutation analysis in three pedigrees. 73
Mutation analysis in hyperphenylalaninemia patients from South Italy. 72
A polymorphism in the VKORC1 gene is associated with an interindividual variability in the dose-anticoagulant effect of warfarin 72
Angiopoietin-1 haploinsufficiency affects the endothelial barrier and causes hereditary angioedema 72
The Genetics of Hereditary Angioedema: A Review 71
Small Supernumerary Marker Chromosome Originating From Chromosome 10 Associated With an Apparently Normal Phenotype’ 70
A description of a new case of combined Factor V and Factor VIII deficiency: the LMAN1 M1T is a frequent cause in Italian patients. 69
A simple two-color array-based approach for mutation detection 69
Identification of GLA gene deletions in Fabry patients by Multiplex Ligation-dependent Probe Amplification (MLPA) 69
Clinical histories and molecular characterization of two afibrinogenemic patients: insights into clinical management. 68
Homozygosity by descent of a 3Mb chromosome 17 haplotype causes coinheritance of Glanzmann thrombasthenia and primary ciliary dyskinesia 68
Prenatal diagnosis of haemophilia B: the Italian experience. 67
Polymorphic changes in the 5' flanking region of factor VII have a combined effect on promoter strength 67
A novel allele variant of the SERPINF2 gene responsible for severe plasmin inhibitor (α2-antiplasmin) deficiency in an Italian patient 67
Identification of FVIII gene mutations in patients with hemophilia A using new combinatorial sequencing by hybridization. 66
Factor V Arg2074Cys: a novel missense mutation in the C2 domain of factor V. 66
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. 64
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 64
Deep intronic variations may cause mild hemophilia A. 63
Low protein Z levels and risk of occurrence of deep vein thrombosis 62
Phenylalanine hydroxylase deficiency in south Italy: Genotype-phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsiveness 62
Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene 61
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Polymorphisms in genes involved in autoimmune disease and the risk of FVIII inhibitor development in Italian patients with haemophilia A 61
The risk of occurrence of venous thrombosis: focus on protein Z. 60
Familial X;Y translocation with distinct phenotypic consequences: Characterization using FISH and array CGH. 58
Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene 57
The Genetics of Hereditary Angioedema: A Review 57
A myoferlin gain-of-function variant associates with a new type of hereditary angioedema 56
Factor VIII gene (F8) mutations as predictors of outcome in immune tolerance induction (ITI) of hemophilia A patients with high-responding inhibitors 55
The first case of a small supernumerary marker chromosome derived from chromosome 10 in an adult woman with an apparently normal phenotype 55
Double de novo mutations in dilated cardiomyopathy with cardiac arrest 51
Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene. 50
THE MOLECULAR ORGANIZATION OF ENDOTHELIAL JUNCTIONS IN VASCULAR PERMEABILITY 50
Identification of ten novel mutations in factor VIII gene: A study of a cohort of 52 haemophilia A patients 49
Novel AKAP9 mutation and long QT syndrome in a patient with torsades des pointes 49
The spectrum of subclinical Best Vitelliform Macular Dystrophy in subjects with mutations in BEST1 gene. 48
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Identification of the Novel G250R Variant Indicates a Role for Thrombomodulin in Modulating the Risk for Venous Thromboembolism 44
ABCB1 SNP rs4148738 modulation of apixaban interindividual variability 42
A Novel KCNN2 Variant in a Family with Essential Tremor Plus: Clinical Characteristics and In Silico Analysis 41
Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene. 40
Identification of the Novel G250R Variant Indicates a Role for Thrombomodulin in Modulating the Risk for Venous Thromboembolism 39
Severe bleeding and absent ADP-induced platelet aggregation associated with inherited combined CalDAG-GEFI and P2Y12 deficiencies. 38
ABCB1 SNP rs4148738 modulation of apixaban interindividual variability 34
Prospective evaluation of pregnancy outcome in an Italian woman with late-onset combined homocystinuria and methylmalonic aciduria 28
Protein Z gene polymorphisms are associated with protein Z plasma levels 27
Severe bleeding and absent ADP-induced platelet aggregation associated with inherited combined CalDAG-GEFI and P2Y12 deficiencies 23
Polymorphic miRNA-mediated gene contribution to inhibitor development in haemophilia A 19
Towards the genetic basis of cerebral venous thrombosis-the BEAST Consortium: a study protocol. 15
Age of onset of cerebral venous thrombosis: the BEAST study 7
An Atypical Case of Idiopathic Nonhistaminergic Angioedema With Anti-C1-INH Antibodies 7
A Novel DLG1 Variant in a Family with Brugada Syndrome: Clinical Characteristics and In Silico Analysis 7
Totale 5.450
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Categoria #
all - tutte 23.539
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 23.539
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019106 0 0 0 0 0 0 0 0 0 0 27 79
2019/20201.111 232 124 53 11 119 129 181 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
2023/2024358 56 25 31 15 31 110 57 23 3 7 0 0
Totale 5.450