IRIS
SANTACROCE, ROSA
 Distribuzione geografica
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Continente #
EU - Europa 2.932
NA - Nord America 2.809
AS - Asia 2.162
SA - Sud America 356
AF - Africa 33
OC - Oceania 3
Continente sconosciuto - Info sul continente non disponibili 2
Totale 8.297
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Nazione #
US - Stati Uniti d'America 2.759
CN - Cina 832
IE - Irlanda 736
SG - Singapore 732
UA - Ucraina 482
IT - Italia 415
SE - Svezia 379
BR - Brasile 286
RU - Federazione Russa 248
HK - Hong Kong 179
DE - Germania 178
FI - Finlandia 139
VN - Vietnam 133
FR - Francia 129
IN - India 111
GB - Regno Unito 77
TR - Turchia 69
AT - Austria 36
AR - Argentina 32
NL - Olanda 31
BE - Belgio 26
CA - Canada 23
IQ - Iraq 21
CZ - Repubblica Ceca 15
BD - Bangladesh 14
MX - Messico 13
ID - Indonesia 11
ZA - Sudafrica 10
IR - Iran 9
JP - Giappone 9
AE - Emirati Arabi Uniti 8
ES - Italia 8
CO - Colombia 7
EC - Ecuador 7
LT - Lituania 7
PL - Polonia 7
UZ - Uzbekistan 7
MA - Marocco 6
VE - Venezuela 6
BO - Bolivia 5
PK - Pakistan 5
CR - Costa Rica 4
JO - Giordania 4
PY - Paraguay 4
CH - Svizzera 3
CL - Cile 3
PA - Panama 3
PE - Perù 3
RO - Romania 3
SA - Arabia Saudita 3
TN - Tunisia 3
UY - Uruguay 3
AL - Albania 2
AU - Australia 2
AZ - Azerbaigian 2
BB - Barbados 2
BG - Bulgaria 2
BY - Bielorussia 2
DO - Repubblica Dominicana 2
DZ - Algeria 2
EG - Egitto 2
EU - Europa 2
HR - Croazia 2
KE - Kenya 2
LB - Libano 2
AO - Angola 1
BA - Bosnia-Erzegovina 1
BF - Burkina Faso 1
BH - Bahrain 1
BN - Brunei Darussalam 1
CG - Congo 1
CU - Cuba 1
ET - Etiopia 1
GN - Guinea 1
HN - Honduras 1
IL - Israele 1
KG - Kirghizistan 1
KR - Corea 1
KW - Kuwait 1
MK - Macedonia 1
MY - Malesia 1
NE - Niger 1
NG - Nigeria 1
NI - Nicaragua 1
NO - Norvegia 1
NZ - Nuova Zelanda 1
OM - Oman 1
PT - Portogallo 1
QA - Qatar 1
RS - Serbia 1
SY - Repubblica araba siriana 1
TH - Thailandia 1
ZM - Zambia 1
Totale 8.297
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Città #
Dublin 736
Chandler 460
Jacksonville 339
Singapore 306
Nyköping 243
Ashburn 216
Dearborn 212
Hong Kong 179
Beijing 175
Nanjing 162
Munich 102
Santa Clara 92
Wilmington 89
Dallas 76
Princeton 76
Nanchang 74
Foggia 70
Ann Arbor 65
New York 65
San Mateo 61
Boardman 58
Helsinki 53
The Dalles 53
Moscow 48
Ho Chi Minh City 38
Bari 37
Hanoi 37
Shenyang 37
Woodbridge 36
Tianjin 33
Los Angeles 30
Hilden 28
Vienna 28
Jiaxing 25
Shanghai 25
São Paulo 25
Changsha 24
Hebei 24
Jinan 24
Turku 24
Kunming 22
Des Moines 21
Hangzhou 20
Brussels 18
Milan 17
Brno 15
Nuremberg 15
Rome 15
Baghdad 14
Guangzhou 14
London 14
Pune 13
Rio de Janeiro 13
Zhengzhou 13
Manfredonia 12
Changchun 11
Chicago 11
Lanzhou 10
Buenos Aires 9
Ningbo 9
Augusta 8
Fuzhou 8
Jakarta 8
San Severo 8
Shenzhen 8
Tokyo 8
Toronto 8
Waanrode 8
Amsterdam 7
Belo Horizonte 7
Florence 7
Naples 7
San Francisco 7
Seattle 7
Auburn Hills 6
Brooklyn 6
Chennai 6
Orange 6
Redwood City 6
Salvador 6
Taranto 6
Tashkent 6
Thái Bình 6
Warsaw 6
Borås 5
Buffalo 5
Cedar Knolls 5
Cutrofiano 5
Kelowna 5
Stockholm 5
São José dos Pinhais 5
Amman 4
Ankara 4
Bitonto 4
Boston 4
Brasília 4
Campo Grande 4
Cape Town 4
Cepagatti 4
Charlotte 4
Totale 5.008
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Nome #
A frameshift mutation in the human fibrinogen Aalpha-chain gene (Aalpha(499)Ala frameshift stop) leading to dysfibrinogen San Giovanni Rotondo 141
A platelet defect modulates bleeding in mild hemophilia: the tale of 2 brothers. 138
Mutation of the angiopoietin-1 gene (ANGPT1) associates with a new type of hereditary angioedema. 138
In vitroresidual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU 137
A G-to A mutation in IVS-3 of the human gamma fibrinogen gene causing afibrinogenemia due to abnormal RNA splicing 134
A polymorfism in VKORC1 gene is associated with an interindividual variability in the dose-anticoagulation effect of warfarin. 131
ADAMTS13 MUTATIONS AND POLYMORPHISMS IN CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA. 131
ABCB1 SNP rs4148738 modulation of apixaban interindividual variability 129
A successful pregnancy in a woman with late-onset combined homocystinuria and methylmalonic aciduria 129
A New SERPINA-1 Missense Mutation Associated with Alpha-1 Antitrypsin Deficiency and Bronchiectasis 125
ANALISI MOLECOLARE E CORRELAZIONE GENOTIPO-FENOTIPO IN FAMIGLIE CON IPERFENILALANINEMIE. 123
A comprehensive on-line digestion-liquid chromatography/mass spectrometry/collision-induced dissociation mass spectrometry approach for the characterization of human fibrinogen. 122
Small Supernumerary Marker Chromosome Originating From Chromosome 10 Associated With an Apparently Normal Phenotype’ 121
ETEROGENEITA' FENOTIPICA NELLE IPERFENILALANINEMIE ALL'INTERNO DELLO STESSO NUCLEO FAMILIARE. 120
A polymorphism in the VKORC1 gene is associated with an interindividual variability in the dose-anticoagulant effect of warfarin 119
ABCB1 SNP rs4148738 modulation of apixaban interindividual variability 118
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 117
COESISTENZA DI DUE PATOLOGIE RARE: TROMBOASTENIA DI GLANZMANN E SINDROME DI KARTAGENER 116
Characterization of patients with angioedema without wheals: the importance of F12 gene screening 116
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. 115
A Novel KCNN2 Variant in a Family with Essential Tremor Plus: Clinical Characteristics and In Silico Analysis 114
Detection of new deletions in a group of Italian patients with Hemophilia A by multiplex ligation-dependent probe amplification 113
A NOVEL NONSENSE TET2 MUTATION IN A PATIENT WITH PRIMARY MYELOFIBROSIS. 112
Angiopoietin-1 haploinsufficiency affects the endothelial barrier and causes hereditary angioedema 112
The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype 108
The Genetics of Hereditary Angioedema: A Review 108
A simple two-color array-based approach for mutation detection 105
A myoferlin gain-of-function variant associates with a new type of hereditary angioedema 105
Mutation analysis in hyperphenylalaninemia patients from South Italy. 104
Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A. 103
A description of a new case of combined Factor V and Factor VIII deficiency: the LMAN1 M1T is a frequent cause in Italian patients. 103
Polymorphisms in genes involved in autoimmune disease and the risk of FVIII inhibitor development in Italian patients with haemophilia A. 102
Characterization of hemoglobin bassett (alpha94Asp-->Ala), a variant with very low oxygen affinity. 101
Coexistence of beta-thalassemia and hereditary hemochromatosis in homozygosity: a possible synergic effect? 101
A novel allele variant of the SERPINF2 gene responsible for severe plasmin inhibitor (α2-antiplasmin) deficiency in an Italian patient 101
Identification of fetal gender in maternal blood is a helpful tool in the prenatal diagnosis of haemophilia 100
Analysis of clinically relevant single-nucleotide polymorphisms by use of microelectronic array technology. 100
Inherited abnormalities of fibrinogen: 10-year clinical experience of an Italian group. 99
Polymorphisms in genes involved in autoimmune disease and the risk of FVIII inhibitor development in Italian patients with haemophilia A 99
Polymorphisms in genes involved in autoimmune disease and the risk of FVIII inhibitor development in Italian patients with haemophilia A 98
Clinical counselling in congenital fibrinogen disorders 96
Clinical histories and molecular characterization of two afibrinogenemic patients: insights into clinical management. 96
Identification of GLA gene deletions in Fabry patients by Multiplex Ligation-dependent Probe Amplification (MLPA) 95
Intra-familiar discordant PKU phenotype explained by mutation analysis in three pedigrees. 94
Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene. 94
Phenylalanine hydroxylase deficiency in south Italy: Genotype-phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsiveness 94
Homozygosity by descent of a 3Mb chromosome 17 haplotype causes coinheritance of Glanzmann thrombasthenia and primary ciliary dyskinesia 93
Low protein Z levels and risk of occurrence of deep vein thrombosis 92
Identification of FVIII gene mutations in patients with hemophilia A using new combinatorial sequencing by hybridization. 91
Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene 91
Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss. 89
Prenatal diagnosis of haemophilia B: the Italian experience. 88
Factor V Arg2074Cys: a novel missense mutation in the C2 domain of factor V. 87
Deep intronic variations may cause mild hemophilia A. 87
ABCB1 SNP rs4148738 modulation of apixaban interindividual variability 87
Clinical utility of screening for CALR gene exon 9 mutations in patients with splanchnic venous thrombosis 86
Polymorphic changes in the 5' flanking region of factor VII have a combined effect on promoter strength 85
Identification of the Novel G250R Variant Indicates a Role for Thrombomodulin in Modulating the Risk for Venous Thromboembolism 82
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 82
The risk of occurrence of venous thrombosis: focus on protein Z. 82
Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene. 82
The first case of a small supernumerary marker chromosome derived from chromosome 10 in an adult woman with an apparently normal phenotype 81
THE MOLECULAR ORGANIZATION OF ENDOTHELIAL JUNCTIONS IN VASCULAR PERMEABILITY 81
Familial X;Y translocation with distinct phenotypic consequences: Characterization using FISH and array CGH. 80
Novel AKAP9 mutation and long QT syndrome in a patient with torsades des pointes 80
The Genetics of Hereditary Angioedema: A Review 80
Factor VIII gene (F8) mutations as predictors of outcome in immune tolerance induction (ITI) of hemophilia A patients with high-responding inhibitors 79
Identification of the Novel G250R Variant Indicates a Role for Thrombomodulin in Modulating the Risk for Venous Thromboembolism 78
Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene 78
The spectrum of subclinical Best Vitelliform Macular Dystrophy in subjects with mutations in BEST1 gene. 76
Double de novo mutations in dilated cardiomyopathy with cardiac arrest 73
A Report on a Targeted Screening Population for Alpha-1-Antitrypsin Deficiency (AATD) in Central-Southern Italy 72
ABCB1 SNP rs4148738 modulation of apixaban interindividual variability 72
Identification of ten novel mutations in factor VIII gene: A study of a cohort of 52 haemophilia A patients 69
A Novel DLG1 Variant in a Family with Brugada Syndrome: Clinical Characteristics and In Silico Analysis 65
DAB2IP associates with hereditary angioedema: Insights into the role of VEGF signaling in HAE pathophysiology 64
Genome-wide association study identifies first locus associated with susceptibility to cerebral venous thrombosis 64
Towards the genetic basis of cerebral venous thrombosis-the BEAST Consortium: a study protocol. 62
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De Novo p.Asp3368Gly Variant of Dystrophin Gene Associated with X-Linked Dilated Cardiomyopathy and Skeletal Myopathy: Clinical Features and In Silico Analysis 60
Severe bleeding and absent ADP-induced platelet aggregation associated with inherited combined CalDAG-GEFI and P2Y12 deficiencies. 57
Investigation of a Large Kindred Reveals Cardiac Calsequestrin (CASQ2) as a Cause of Brugada Syndrome 52
Caveolin 3 Variant T78M in a Large Family With Brugada Syndrome: Clinical Features and Coexistence of ADRB1 and GRK5 Gene Mutation 50
Protein Z gene polymorphisms are associated with protein Z plasma levels 49
Prospective evaluation of pregnancy outcome in an Italian woman with late-onset combined homocystinuria and methylmalonic aciduria 49
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Age of onset of cerebral venous thrombosis: the BEAST study 47
Severe bleeding and absent ADP-induced platelet aggregation associated with inherited combined CalDAG-GEFI and P2Y12 deficiencies 47
Uncovering a Genetic Diagnosis in a Pediatric Patient by Whole Exome Sequencing: A Modeling Investigation in Wiedemann–Steiner Syndrome 46
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Gene-Gene Interaction Between Factor-XI and ABO Genes in Cerebral Venous Thrombosis The BEAST Study 40
Polymorphic miRNA-mediated gene contribution to inhibitor development in haemophilia A 40
Genetic Background and Clinical Phenotype in an Italian Cohort with Inherited Arrhythmia Syndromes and Arrhythmogenic Cardiomyopathy (ACM): A Whole-Exome Sequencing Study 39
Coma in adult cerebral venous thrombosis: The BEAST study 36
An Atypical Case of Idiopathic Nonhistaminergic Angioedema With Anti-C1-INH Antibodies 27
Vasculopathy: a possible factor affecting hereditary angioedema 16
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Totale 8.553
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Categoria #
all - tutte 45.526
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 45.526
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021402 0 0 0 0 0 34 90 21 145 107 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
2025/20261.345 199 247 311 372 128 88 0 0 0 0 0 0
Totale 8.553