IRIS
SANTACROCE, ROSA
 Distribuzione geografica
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Continente #
NA - Nord America 3.446
EU - Europa 3.347
AS - Asia 2.394
SA - Sud America 389
AF - Africa 48
OC - Oceania 4
Continente sconosciuto - Info sul continente non disponibili 2
Totale 9.630
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Nazione #
US - Stati Uniti d'America 3.385
CN - Cina 882
SG - Singapore 822
IE - Irlanda 737
UA - Ucraina 483
RU - Federazione Russa 477
IT - Italia 460
SE - Svezia 379
BR - Brasile 303
FR - Francia 227
DE - Germania 192
HK - Hong Kong 189
VN - Vietnam 163
FI - Finlandia 140
IN - India 119
GB - Regno Unito 83
TR - Turchia 70
AT - Austria 37
AR - Argentina 36
NL - Olanda 34
IQ - Iraq 30
BE - Belgio 28
CA - Canada 26
BD - Bangladesh 20
PL - Polonia 17
CZ - Repubblica Ceca 15
MX - Messico 14
CO - Colombia 12
ID - Indonesia 12
PK - Pakistan 12
ZA - Sudafrica 12
ES - Italia 10
JP - Giappone 10
UZ - Uzbekistan 10
IR - Iran 9
JO - Giordania 9
MA - Marocco 9
AE - Emirati Arabi Uniti 8
EC - Ecuador 8
CL - Cile 7
LT - Lituania 7
VE - Venezuela 7
BO - Bolivia 5
SA - Arabia Saudita 5
TN - Tunisia 5
CR - Costa Rica 4
DZ - Algeria 4
PA - Panama 4
PY - Paraguay 4
UY - Uruguay 4
AU - Australia 3
AZ - Azerbaigian 3
CH - Svizzera 3
DO - Repubblica Dominicana 3
ET - Etiopia 3
HR - Croazia 3
KE - Kenya 3
MY - Malesia 3
NI - Nicaragua 3
PE - Perù 3
RO - Romania 3
AL - Albania 2
BB - Barbados 2
BG - Bulgaria 2
BY - Bielorussia 2
CG - Congo 2
EG - Egitto 2
EU - Europa 2
LB - Libano 2
NP - Nepal 2
PS - Palestinian Territory 2
RS - Serbia 2
TH - Thailandia 2
AO - Angola 1
BA - Bosnia-Erzegovina 1
BF - Burkina Faso 1
BH - Bahrain 1
BM - Bermuda 1
BN - Brunei Darussalam 1
CI - Costa d'Avorio 1
CU - Cuba 1
GN - Guinea 1
HN - Honduras 1
IL - Israele 1
KG - Kirghizistan 1
KR - Corea 1
KW - Kuwait 1
KZ - Kazakistan 1
MK - Macedonia 1
NE - Niger 1
NG - Nigeria 1
NO - Norvegia 1
NZ - Nuova Zelanda 1
OM - Oman 1
PR - Porto Rico 1
PT - Portogallo 1
QA - Qatar 1
SN - Senegal 1
SV - El Salvador 1
SY - Repubblica araba siriana 1
Totale 9.629
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Città #
Dublin 737
San Jose 471
Chandler 460
Singapore 359
Jacksonville 340
Ashburn 266
Nyköping 243
Dearborn 212
Beijing 189
Hong Kong 189
Nanjing 162
Munich 103
Santa Clara 96
Wilmington 89
Dallas 78
Lauterbourg 78
Princeton 76
Nanchang 74
Foggia 70
New York 66
Ann Arbor 65
The Dalles 62
San Mateo 61
Boardman 58
Moscow 56
Helsinki 54
Ho Chi Minh City 48
Hanoi 45
Bari 42
Shenyang 37
Woodbridge 36
Tianjin 34
Los Angeles 30
Hilden 28
Vienna 28
São Paulo 27
Jiaxing 25
Shanghai 25
Changsha 24
Hebei 24
Jinan 24
Turku 24
Des Moines 22
Kunming 22
Hangzhou 20
Milan 19
Brussels 18
Rome 18
Baghdad 16
Hillsboro 16
London 16
Nuremberg 16
Brno 15
Warsaw 15
Frankfurt am Main 14
Guangzhou 14
Council Bluffs 13
Pune 13
Rio de Janeiro 13
Zhengzhou 13
Manfredonia 12
Changchun 11
Chicago 11
Modena 11
Toronto 11
Buenos Aires 10
Lanzhou 10
Amman 9
Amsterdam 9
Ningbo 9
Tokyo 9
Augusta 8
Florence 8
Fuzhou 8
Jakarta 8
San Severo 8
Shenzhen 8
Tashkent 8
Waanrode 8
Belo Horizonte 7
Brooklyn 7
Buffalo 7
Naples 7
San Francisco 7
Seattle 7
Taranto 7
Auburn Hills 6
Chennai 6
Da Nang 6
Orange 6
Redwood City 6
Salvador 6
Thái Bình 6
Ankara 5
Borås 5
Brasília 5
Cedar Knolls 5
Cutrofiano 5
Haiphong 5
Johannesburg 5
Totale 5.810
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Nome #
A platelet defect modulates bleeding in mild hemophilia: the tale of 2 brothers. 160
A frameshift mutation in the human fibrinogen Aalpha-chain gene (Aalpha(499)Ala frameshift stop) leading to dysfibrinogen San Giovanni Rotondo 157
Mutation of the angiopoietin-1 gene (ANGPT1) associates with a new type of hereditary angioedema. 153
A polymorfism in VKORC1 gene is associated with an interindividual variability in the dose-anticoagulation effect of warfarin. 150
A G-to A mutation in IVS-3 of the human gamma fibrinogen gene causing afibrinogenemia due to abnormal RNA splicing 149
ADAMTS13 MUTATIONS AND POLYMORPHISMS IN CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA. 148
A New SERPINA-1 Missense Mutation Associated with Alpha-1 Antitrypsin Deficiency and Bronchiectasis 148
In vitroresidual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU 144
A successful pregnancy in a woman with late-onset combined homocystinuria and methylmalonic aciduria 144
ABCB1 SNP rs4148738 modulation of apixaban interindividual variability 141
Angiopoietin-1 haploinsufficiency affects the endothelial barrier and causes hereditary angioedema 141
A comprehensive on-line digestion-liquid chromatography/mass spectrometry/collision-induced dissociation mass spectrometry approach for the characterization of human fibrinogen. 138
ABCB1 SNP rs4148738 modulation of apixaban interindividual variability 137
A Novel KCNN2 Variant in a Family with Essential Tremor Plus: Clinical Characteristics and In Silico Analysis 133
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. 132
ANALISI MOLECOLARE E CORRELAZIONE GENOTIPO-FENOTIPO IN FAMIGLIE CON IPERFENILALANINEMIE. 132
A NOVEL NONSENSE TET2 MUTATION IN A PATIENT WITH PRIMARY MYELOFIBROSIS. 130
Small Supernumerary Marker Chromosome Originating From Chromosome 10 Associated With an Apparently Normal Phenotype’ 130
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 129
ETEROGENEITA' FENOTIPICA NELLE IPERFENILALANINEMIE ALL'INTERNO DELLO STESSO NUCLEO FAMILIARE. 129
A polymorphism in the VKORC1 gene is associated with an interindividual variability in the dose-anticoagulant effect of warfarin 129
COESISTENZA DI DUE PATOLOGIE RARE: TROMBOASTENIA DI GLANZMANN E SINDROME DI KARTAGENER 128
Characterization of patients with angioedema without wheals: the importance of F12 gene screening 128
Detection of new deletions in a group of Italian patients with Hemophilia A by multiplex ligation-dependent probe amplification 125
The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype 124
A myoferlin gain-of-function variant associates with a new type of hereditary angioedema 124
The Genetics of Hereditary Angioedema: A Review 123
A novel allele variant of the SERPINF2 gene responsible for severe plasmin inhibitor (α2-antiplasmin) deficiency in an Italian patient 120
A description of a new case of combined Factor V and Factor VIII deficiency: the LMAN1 M1T is a frequent cause in Italian patients. 119
A simple two-color array-based approach for mutation detection 119
Coexistence of beta-thalassemia and hereditary hemochromatosis in homozygosity: a possible synergic effect? 116
Mutation analysis in hyperphenylalaninemia patients from South Italy. 116
Characterization of hemoglobin bassett (alpha94Asp-->Ala), a variant with very low oxygen affinity. 115
Polymorphisms in genes involved in autoimmune disease and the risk of FVIII inhibitor development in Italian patients with haemophilia A. 115
Polymorphisms in genes involved in autoimmune disease and the risk of FVIII inhibitor development in Italian patients with haemophilia A 115
Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A. 114
Identification of fetal gender in maternal blood is a helpful tool in the prenatal diagnosis of haemophilia 112
Phenylalanine hydroxylase deficiency in south Italy: Genotype-phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsiveness 112
Inherited abnormalities of fibrinogen: 10-year clinical experience of an Italian group. 111
Polymorphisms in genes involved in autoimmune disease and the risk of FVIII inhibitor development in Italian patients with haemophilia A 111
Analysis of clinically relevant single-nucleotide polymorphisms by use of microelectronic array technology. 110
Deep intronic variations may cause mild hemophilia A. 108
ABCB1 SNP rs4148738 modulation of apixaban interindividual variability 108
Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene 107
Clinical counselling in congenital fibrinogen disorders 105
Low protein Z levels and risk of occurrence of deep vein thrombosis 105
Clinical histories and molecular characterization of two afibrinogenemic patients: insights into clinical management. 104
Homozygosity by descent of a 3Mb chromosome 17 haplotype causes coinheritance of Glanzmann thrombasthenia and primary ciliary dyskinesia 103
Intra-familiar discordant PKU phenotype explained by mutation analysis in three pedigrees. 102
Identification of FVIII gene mutations in patients with hemophilia A using new combinatorial sequencing by hybridization. 102
Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene. 102
Identification of GLA gene deletions in Fabry patients by Multiplex Ligation-dependent Probe Amplification (MLPA) 102
DAB2IP associates with hereditary angioedema: Insights into the role of VEGF signaling in HAE pathophysiology 101
Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss. 101
THE MOLECULAR ORGANIZATION OF ENDOTHELIAL JUNCTIONS IN VASCULAR PERMEABILITY 101
Prenatal diagnosis of haemophilia B: the Italian experience. 100
Factor V Arg2074Cys: a novel missense mutation in the C2 domain of factor V. 99
Identification of the Novel G250R Variant Indicates a Role for Thrombomodulin in Modulating the Risk for Venous Thromboembolism 97
Novel AKAP9 mutation and long QT syndrome in a patient with torsades des pointes 97
The first case of a small supernumerary marker chromosome derived from chromosome 10 in an adult woman with an apparently normal phenotype 94
Clinical utility of screening for CALR gene exon 9 mutations in patients with splanchnic venous thrombosis 94
Identification of the Novel G250R Variant Indicates a Role for Thrombomodulin in Modulating the Risk for Venous Thromboembolism 93
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 92
Polymorphic changes in the 5' flanking region of factor VII have a combined effect on promoter strength 91
Familial X;Y translocation with distinct phenotypic consequences: Characterization using FISH and array CGH. 91
Factor VIII gene (F8) mutations as predictors of outcome in immune tolerance induction (ITI) of hemophilia A patients with high-responding inhibitors 91
The risk of occurrence of venous thrombosis: focus on protein Z. 91
Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene. 90
The Genetics of Hereditary Angioedema: A Review 90
ABCB1 SNP rs4148738 modulation of apixaban interindividual variability 90
A Report on a Targeted Screening Population for Alpha-1-Antitrypsin Deficiency (AATD) in Central-Southern Italy 88
Caveolin 3 Variant T78M in a Large Family With Brugada Syndrome: Clinical Features and Coexistence of ADRB1 and GRK5 Gene Mutation 85
Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene 84
A Novel DLG1 Variant in a Family with Brugada Syndrome: Clinical Characteristics and In Silico Analysis 84
The spectrum of subclinical Best Vitelliform Macular Dystrophy in subjects with mutations in BEST1 gene. 83
De Novo p.Asp3368Gly Variant of Dystrophin Gene Associated with X-Linked Dilated Cardiomyopathy and Skeletal Myopathy: Clinical Features and In Silico Analysis 79
Double de novo mutations in dilated cardiomyopathy with cardiac arrest 79
Identification of ten novel mutations in factor VIII gene: A study of a cohort of 52 haemophilia A patients 78
Genome-wide association study identifies first locus associated with susceptibility to cerebral venous thrombosis 76
Uncovering a Genetic Diagnosis in a Pediatric Patient by Whole Exome Sequencing: A Modeling Investigation in Wiedemann–Steiner Syndrome 73
Genetic Background and Clinical Phenotype in an Italian Cohort with Inherited Arrhythmia Syndromes and Arrhythmogenic Cardiomyopathy (ACM): A Whole-Exome Sequencing Study 70
Severe bleeding and absent ADP-induced platelet aggregation associated with inherited combined CalDAG-GEFI and P2Y12 deficiencies. 70
Investigation of a Large Kindred Reveals Cardiac Calsequestrin (CASQ2) as a Cause of Brugada Syndrome 68
Towards the genetic basis of cerebral venous thrombosis-the BEAST Consortium: a study protocol. 66
Severe bleeding and absent ADP-induced platelet aggregation associated with inherited combined CalDAG-GEFI and P2Y12 deficiencies 64
Age of onset of cerebral venous thrombosis: the BEAST study 61
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Protein Z gene polymorphisms are associated with protein Z plasma levels 59
Prospective evaluation of pregnancy outcome in an Italian woman with late-onset combined homocystinuria and methylmalonic aciduria 55
Gene-Gene Interaction Between Factor-XI and ABO Genes in Cerebral Venous Thrombosis The BEAST Study 53
Coma in adult cerebral venous thrombosis: The BEAST study 51
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Polymorphic miRNA-mediated gene contribution to inhibitor development in haemophilia A 48
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An Atypical Case of Idiopathic Nonhistaminergic Angioedema With Anti-C1-INH Antibodies 39
Vasculopathy: a possible factor affecting hereditary angioedema 33
The Role of Genetics in the Management of Heart Failure Patients 18
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Totale 9.889
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Categoria #
all - tutte 48.060
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 48.060
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021112 0 0 0 0 0 0 0 0 0 107 3 2
2021/2022467 67 1 12 11 47 6 6 36 61 55 37 128
2022/20231.912 160 81 104 134 126 166 13 178 862 13 40 35
2023/2024437 56 25 31 15 31 110 57 23 3 7 4 75
2024/20251.653 71 28 63 70 45 182 154 96 450 109 192 193
2025/20262.681 199 247 311 372 128 142 572 346 214 150 0 0
Totale 9.889