IRIS
SANTACROCE, ROSA
 Distribuzione geografica
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Continente #
EU - Europa 2.300
NA - Nord America 2.246
AS - Asia 864
SA - Sud America 8
OC - Oceania 3
Continente sconosciuto - Info sul continente non disponibili 2
Totale 5.423
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Nazione #
US - Stati Uniti d'America 2.232
IE - Irlanda 728
CN - Cina 637
UA - Ucraina 480
SE - Svezia 373
IT - Italia 280
FR - Francia 123
FI - Finlandia 102
IN - India 94
DE - Germania 66
TR - Turchia 61
SG - Singapore 57
GB - Regno Unito 49
BE - Belgio 25
NL - Olanda 22
AT - Austria 21
CZ - Repubblica Ceca 15
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
VE - Venezuela 1
Totale 5.423
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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
Boardman 55
Helsinki 43
Shenyang 37
Woodbridge 36
Singapore 34
Tianjin 33
Bari 28
Hilden 28
Changsha 24
Hebei 24
Jinan 24
Jiaxing 23
Kunming 22
Vienna 21
Des Moines 20
Hangzhou 19
Brussels 17
Brno 15
Munich 15
Pune 13
Zhengzhou 13
Changchun 11
Shanghai 11
Guangzhou 10
Lanzhou 10
Los Angeles 10
Rome 10
London 9
Ningbo 9
Augusta 8
San Severo 8
Waanrode 8
Auburn Hills 6
Fuzhou 6
Orange 6
Borås 5
Buenos Aires 5
Cedar Knolls 5
Cutrofiano 5
Florence 5
Kelowna 5
Redwood City 5
Seattle 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
Rui'an 3
Shenzhen 3
Strasbourg 3
Taizhou 3
Washington 3
Altamura 2
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
Ancona 1
Ardabil 1
Arzano 1
Auckland 1
Bitonto 1
Totale 3.613
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Nome #
A platelet defect modulates bleeding in mild hemophilia: the tale of 2 brothers. 106
ETEROGENEITA' FENOTIPICA NELLE IPERFENILALANINEMIE ALL'INTERNO DELLO STESSO NUCLEO FAMILIARE. 100
Mutation of the angiopoietin-1 gene (ANGPT1) associates with a new type of hereditary angioedema. 100
ADAMTS13 MUTATIONS AND POLYMORPHISMS IN CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA. 99
A polymorfism in VKORC1 gene is associated with an interindividual variability in the dose-anticoagulation effect of warfarin. 98
ABCB1 SNP rs4148738 modulation of apixaban interindividual variability 98
A frameshift mutation in the human fibrinogen Aalpha-chain gene (Aalpha(499)Ala frameshift stop) leading to dysfibrinogen San Giovanni Rotondo 96
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
Characterization of patients with angioedema without wheals: the importance of F12 gene screening 95
A G-to A mutation in IVS-3 of the human gamma fibrinogen gene causing afibrinogenemia due to abnormal RNA splicing 95
COESISTENZA DI DUE PATOLOGIE RARE: TROMBOASTENIA DI GLANZMANN E SINDROME DI KARTAGENER 94
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 88
A comprehensive on-line digestion-liquid chromatography/mass spectrometry/collision-induced dissociation mass spectrometry approach for the characterization of human fibrinogen. 87
Detection of new deletions in a group of Italian patients with Hemophilia A by multiplex ligation-dependent probe amplification 86
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. 84
ABCB1 SNP rs4148738 modulation of apixaban interindividual variability 83
Polymorphisms in genes involved in autoimmune disease and the risk of FVIII inhibitor development in Italian patients with haemophilia A. 82
Coexistence of beta-thalassemia and hereditary hemochromatosis in homozygosity: a possible synergic effect? 82
The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype 82
Characterization of hemoglobin bassett (alpha94Asp-->Ala), a variant with very low oxygen affinity. 81
A New SERPINA-1 Missense Mutation Associated with Alpha-1 Antitrypsin Deficiency and Bronchiectasis 81
Inherited abnormalities of fibrinogen: 10-year clinical experience of an Italian group. 80
Identification of fetal gender in maternal blood is a helpful tool in the prenatal diagnosis of haemophilia 79
Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A. 79
Analysis of clinically relevant single-nucleotide polymorphisms by use of microelectronic array technology. 79
Polymorphisms in genes involved in autoimmune disease and the risk of FVIII inhibitor development in Italian patients with haemophilia A 78
Angiopoietin-1 haploinsufficiency affects the endothelial barrier and causes hereditary angioedema 78
Clinical counselling in congenital fibrinogen disorders 77
A NOVEL NONSENSE TET2 MUTATION IN A PATIENT WITH PRIMARY MYELOFIBROSIS. 77
A polymorphism in the VKORC1 gene is associated with an interindividual variability in the dose-anticoagulant effect of warfarin 75
Intra-familiar discordant PKU phenotype explained by mutation analysis in three pedigrees. 74
The Genetics of Hereditary Angioedema: A Review 74
A simple two-color array-based approach for mutation detection 73
Mutation analysis in hyperphenylalaninemia patients from South Italy. 73
A novel allele variant of the SERPINF2 gene responsible for severe plasmin inhibitor (α2-antiplasmin) deficiency in an Italian patient 72
A description of a new case of combined Factor V and Factor VIII deficiency: the LMAN1 M1T is a frequent cause in Italian patients. 71
Small Supernumerary Marker Chromosome Originating From Chromosome 10 Associated With an Apparently Normal Phenotype’ 71
Identification of GLA gene deletions in Fabry patients by Multiplex Ligation-dependent Probe Amplification (MLPA) 71
Clinical histories and molecular characterization of two afibrinogenemic patients: insights into clinical management. 69
Homozygosity by descent of a 3Mb chromosome 17 haplotype causes coinheritance of Glanzmann thrombasthenia and primary ciliary dyskinesia 69
Prenatal diagnosis of haemophilia B: the Italian experience. 68
Identification of FVIII gene mutations in patients with hemophilia A using new combinatorial sequencing by hybridization. 68
Polymorphic changes in the 5' flanking region of factor VII have a combined effect on promoter strength 68
Factor V Arg2074Cys: a novel missense mutation in the C2 domain of factor V. 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
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
Low protein Z levels and risk of occurrence of deep vein thrombosis 64
Deep intronic variations may cause mild hemophilia A. 64
Phenylalanine hydroxylase deficiency in south Italy: Genotype-phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsiveness 64
Polymorphisms in genes involved in autoimmune disease and the risk of FVIII inhibitor development in Italian patients with haemophilia A 64
Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene 63
The risk of occurrence of venous thrombosis: focus on protein Z. 61
null 61
A myoferlin gain-of-function variant associates with a new type of hereditary angioedema 61
The Genetics of Hereditary Angioedema: A Review 59
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 58
Factor VIII gene (F8) mutations as predictors of outcome in immune tolerance induction (ITI) of hemophilia A patients with high-responding inhibitors 56
The first case of a small supernumerary marker chromosome derived from chromosome 10 in an adult woman with an apparently normal phenotype 56
Novel AKAP9 mutation and long QT syndrome in a patient with torsades des pointes 53
Double de novo mutations in dilated cardiomyopathy with cardiac arrest 52
A Novel KCNN2 Variant in a Family with Essential Tremor Plus: Clinical Characteristics and In Silico Analysis 52
THE MOLECULAR ORGANIZATION OF ENDOTHELIAL JUNCTIONS IN VASCULAR PERMEABILITY 51
Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene. 50
The spectrum of subclinical Best Vitelliform Macular Dystrophy in subjects with mutations in BEST1 gene. 49
Identification of ten novel mutations in factor VIII gene: A study of a cohort of 52 haemophilia A patients 49
null 48
Identification of the Novel G250R Variant Indicates a Role for Thrombomodulin in Modulating the Risk for Venous Thromboembolism 46
ABCB1 SNP rs4148738 modulation of apixaban interindividual variability 46
null 45
Identification of the Novel G250R Variant Indicates a Role for Thrombomodulin in Modulating the Risk for Venous Thromboembolism 42
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
ABCB1 SNP rs4148738 modulation of apixaban interindividual variability 39
Prospective evaluation of pregnancy outcome in an Italian woman with late-onset combined homocystinuria and methylmalonic aciduria 29
Protein Z gene polymorphisms are associated with protein Z plasma levels 28
Severe bleeding and absent ADP-induced platelet aggregation associated with inherited combined CalDAG-GEFI and P2Y12 deficiencies 24
Polymorphic miRNA-mediated gene contribution to inhibitor development in haemophilia A 21
Towards the genetic basis of cerebral venous thrombosis-the BEAST Consortium: a study protocol. 17
A Novel DLG1 Variant in a Family with Brugada Syndrome: Clinical Characteristics and In Silico Analysis 13
Age of onset of cerebral venous thrombosis: the BEAST study 8
An Atypical Case of Idiopathic Nonhistaminergic Angioedema With Anti-C1-INH Antibodies 7
De Novo p.Asp3368Gly Variant of Dystrophin Gene Associated with X-Linked Dilated Cardiomyopathy and Skeletal Myopathy: Clinical Features and In Silico Analysis 4
Investigation of a Large Kindred Reveals Cardiac Calsequestrin (CASQ2) as a Cause of Brugada Syndrome 3
Totale 5.623
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Categoria #
all - tutte 26.977
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 26.977
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020879 0 124 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
2023/2024437 56 25 31 15 31 110 57 23 3 7 4 75
2024/202594 71 23 0 0 0 0 0 0 0 0 0 0
Totale 5.623