IRIS
SANTACROCE, ROSA
 Distribuzione geografica
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Continente #
NA - Nord America 4.433
EU - Europa 3.471
AS - Asia 2.447
SA - Sud America 402
Continente sconosciuto - Info sul continente non disponibili 274
AF - Africa 48
OC - Oceania 4
Totale 11.079
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Nazione #
US - Stati Uniti d'America 4.314
CN - Cina 894
SG - Singapore 834
IE - Irlanda 737
IT - Italia 547
UA - Ucraina 484
RU - Federazione Russa 482
SE - Svezia 379
BR - Brasile 312
FR - Francia 230
HK - Hong Kong 196
DE - Germania 195
VN - Vietnam 163
FI - Finlandia 140
IN - India 119
GB - Regno Unito 98
TR - Turchia 70
CA - Canada 45
AT - Austria 38
NL - Olanda 38
AR - Argentina 36
BD - Bangladesh 36
IQ - Iraq 30
BE - Belgio 28
MX - Messico 18
PL - Polonia 18
CZ - Repubblica Ceca 15
CO - Colombia 14
ID - Indonesia 14
CR - Costa Rica 13
ES - Italia 12
PK - Pakistan 12
ZA - Sudafrica 12
JP - Giappone 10
UZ - Uzbekistan 10
CL - Cile 9
IR - Iran 9
JO - Giordania 9
MA - Marocco 9
AE - Emirati Arabi Uniti 8
EC - Ecuador 8
LT - Lituania 7
VE - Venezuela 7
BO - Bolivia 5
GP - Guadalupe 5
HN - Honduras 5
SA - Arabia Saudita 5
TN - Tunisia 5
TT - Trinidad e Tobago 5
CW - ???statistics.table.value.countryCode.CW??? 4
DZ - Algeria 4
IL - Israele 4
NI - Nicaragua 4
PA - Panama 4
PY - Paraguay 4
SV - El Salvador 4
UY - Uruguay 4
AU - Australia 3
AZ - Azerbaigian 3
BB - Barbados 3
CH - Svizzera 3
DO - Repubblica Dominicana 3
ET - Etiopia 3
GT - Guatemala 3
HR - Croazia 3
KE - Kenya 3
MY - Malesia 3
PE - Perù 3
PR - Porto Rico 3
RO - Romania 3
AL - Albania 2
BG - Bulgaria 2
BY - Bielorussia 2
CG - Congo 2
EG - Egitto 2
EU - Europa 2
GR - Grecia 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
GD - Grenada 1
GN - Guinea 1
JM - Giamaica 1
KG - Kirghizistan 1
KR - Corea 1
KW - Kuwait 1
KZ - Kazakistan 1
MK - Macedonia 1
NE - Niger 1
NG - Nigeria 1
Totale 10.802
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Città #
Dublin 737
San Jose 734
Chandler 460
Singapore 366
Jacksonville 340
Ashburn 300
Nyköping 243
Dearborn 212
Beijing 196
Hong Kong 196
Nanjing 162
Santa Clara 116
Council Bluffs 115
Munich 103
Wilmington 92
Dallas 82
Lauterbourg 78
Princeton 78
Nanchang 74
New York 73
Columbus 71
Foggia 70
Ann Arbor 65
The Dalles 62
San Mateo 61
Boardman 58
Moscow 56
Helsinki 54
Los Angeles 52
Ho Chi Minh City 48
Hanoi 45
Bari 43
Shenyang 37
Woodbridge 36
Tianjin 34
Vienna 29
Hilden 28
São Paulo 28
Milan 27
Rome 27
Shanghai 26
Jiaxing 25
Changsha 24
Hebei 24
Jinan 24
Turku 24
Des Moines 22
Kunming 22
Hangzhou 20
Brussels 18
Hillsboro 17
Baghdad 16
London 16
Nuremberg 16
Brno 15
New Providence 15
Phoenix 15
Warsaw 15
Frankfurt am Main 14
Guangzhou 14
Chicago 13
Modena 13
Pune 13
Rio de Janeiro 13
Toronto 13
Zhengzhou 13
Manfredonia 12
Buffalo 11
Changchun 11
Seattle 11
Buenos Aires 10
Florence 10
Fresno 10
Lanzhou 10
Long Beach 10
San José 10
Amman 9
Amsterdam 9
Naples 9
Ningbo 9
Tokyo 9
Augusta 8
Brooklyn 8
Fuzhou 8
Jakarta 8
San Francisco 8
San Severo 8
Shenzhen 8
Tashkent 8
Waanrode 8
Belo Horizonte 7
North Bergen 7
Taranto 7
Atlanta 6
Auburn Hills 6
Charlotte 6
Chennai 6
Da Nang 6
Mexico City 6
Montreal 6
Totale 6.433
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Nome #
A platelet defect modulates bleeding in mild hemophilia: the tale of 2 brothers. 173
A frameshift mutation in the human fibrinogen Aalpha-chain gene (Aalpha(499)Ala frameshift stop) leading to dysfibrinogen San Giovanni Rotondo 168
Mutation of the angiopoietin-1 gene (ANGPT1) associates with a new type of hereditary angioedema. 168
A G-to A mutation in IVS-3 of the human gamma fibrinogen gene causing afibrinogenemia due to abnormal RNA splicing 163
A polymorfism in VKORC1 gene is associated with an interindividual variability in the dose-anticoagulation effect of warfarin. 162
ADAMTS13 MUTATIONS AND POLYMORPHISMS IN CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA. 160
A New SERPINA-1 Missense Mutation Associated with Alpha-1 Antitrypsin Deficiency and Bronchiectasis 160
In vitroresidual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU 155
A successful pregnancy in a woman with late-onset combined homocystinuria and methylmalonic aciduria 154
Angiopoietin-1 haploinsufficiency affects the endothelial barrier and causes hereditary angioedema 154
ABCB1 SNP rs4148738 modulation of apixaban interindividual variability 151
ETEROGENEITA' FENOTIPICA NELLE IPERFENILALANINEMIE ALL'INTERNO DELLO STESSO NUCLEO FAMILIARE. 150
ABCB1 SNP rs4148738 modulation of apixaban interindividual variability 150
The Genetics of Hereditary Angioedema: A Review 149
A comprehensive on-line digestion-liquid chromatography/mass spectrometry/collision-induced dissociation mass spectrometry approach for the characterization of human fibrinogen. 148
COESISTENZA DI DUE PATOLOGIE RARE: TROMBOASTENIA DI GLANZMANN E SINDROME DI KARTAGENER 147
A Novel KCNN2 Variant in a Family with Essential Tremor Plus: Clinical Characteristics and In Silico Analysis 146
The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype 144
Characterization of patients with angioedema without wheals: the importance of F12 gene screening 144
A NOVEL NONSENSE TET2 MUTATION IN A PATIENT WITH PRIMARY MYELOFIBROSIS. 140
A polymorphism in the VKORC1 gene is associated with an interindividual variability in the dose-anticoagulant effect of warfarin 140
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. 139
Small Supernumerary Marker Chromosome Originating From Chromosome 10 Associated With an Apparently Normal Phenotype’ 139
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 138
ANALISI MOLECOLARE E CORRELAZIONE GENOTIPO-FENOTIPO IN FAMIGLIE CON IPERFENILALANINEMIE. 138
A myoferlin gain-of-function variant associates with a new type of hereditary angioedema 136
Detection of new deletions in a group of Italian patients with Hemophilia A by multiplex ligation-dependent probe amplification 134
Low protein Z levels and risk of occurrence of deep vein thrombosis 130
Mutation analysis in hyperphenylalaninemia patients from South Italy. 130
A description of a new case of combined Factor V and Factor VIII deficiency: the LMAN1 M1T is a frequent cause in Italian patients. 129
A simple two-color array-based approach for mutation detection 129
THE MOLECULAR ORGANIZATION OF ENDOTHELIAL JUNCTIONS IN VASCULAR PERMEABILITY 129
A novel allele variant of the SERPINF2 gene responsible for severe plasmin inhibitor (α2-antiplasmin) deficiency in an Italian patient 127
Inherited abnormalities of fibrinogen: 10-year clinical experience of an Italian group. 124
Polymorphisms in genes involved in autoimmune disease and the risk of FVIII inhibitor development in Italian patients with haemophilia A. 124
Coexistence of beta-thalassemia and hereditary hemochromatosis in homozygosity: a possible synergic effect? 124
Phenylalanine hydroxylase deficiency in south Italy: Genotype-phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsiveness 124
Characterization of hemoglobin bassett (alpha94Asp-->Ala), a variant with very low oxygen affinity. 123
Identification of fetal gender in maternal blood is a helpful tool in the prenatal diagnosis of haemophilia 122
Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A. 121
Analysis of clinically relevant single-nucleotide polymorphisms by use of microelectronic array technology. 121
Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene 121
Polymorphisms in genes involved in autoimmune disease and the risk of FVIII inhibitor development in Italian patients with haemophilia A 121
Identification of GLA gene deletions in Fabry patients by Multiplex Ligation-dependent Probe Amplification (MLPA) 120
Polymorphisms in genes involved in autoimmune disease and the risk of FVIII inhibitor development in Italian patients with haemophilia A 119
ABCB1 SNP rs4148738 modulation of apixaban interindividual variability 119
Clinical counselling in congenital fibrinogen disorders 116
Identification of FVIII gene mutations in patients with hemophilia A using new combinatorial sequencing by hybridization. 115
Deep intronic variations may cause mild hemophilia A. 115
DAB2IP associates with hereditary angioedema: Insights into the role of VEGF signaling in HAE pathophysiology 114
Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene. 114
Homozygosity by descent of a 3Mb chromosome 17 haplotype causes coinheritance of Glanzmann thrombasthenia and primary ciliary dyskinesia 114
Caveolin 3 Variant T78M in a Large Family With Brugada Syndrome: Clinical Features and Coexistence of ADRB1 and GRK5 Gene Mutation 113
Intra-familiar discordant PKU phenotype explained by mutation analysis in three pedigrees. 113
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 112
Clinical histories and molecular characterization of two afibrinogenemic patients: insights into clinical management. 112
Prenatal diagnosis of haemophilia B: the Italian experience. 110
Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss. 110
Identification of the Novel G250R Variant Indicates a Role for Thrombomodulin in Modulating the Risk for Venous Thromboembolism 109
Factor V Arg2074Cys: a novel missense mutation in the C2 domain of factor V. 109
A Report on a Targeted Screening Population for Alpha-1-Antitrypsin Deficiency (AATD) in Central-Southern Italy 107
Novel AKAP9 mutation and long QT syndrome in a patient with torsades des pointes 107
Identification of the Novel G250R Variant Indicates a Role for Thrombomodulin in Modulating the Risk for Venous Thromboembolism 104
A Novel DLG1 Variant in a Family with Brugada Syndrome: Clinical Characteristics and In Silico Analysis 104
The first case of a small supernumerary marker chromosome derived from chromosome 10 in an adult woman with an apparently normal phenotype 103
Familial X;Y translocation with distinct phenotypic consequences: Characterization using FISH and array CGH. 101
Clinical utility of screening for CALR gene exon 9 mutations in patients with splanchnic venous thrombosis 101
Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene. 101
Uncovering a Genetic Diagnosis in a Pediatric Patient by Whole Exome Sequencing: A Modeling Investigation in Wiedemann–Steiner Syndrome 100
Polymorphic changes in the 5' flanking region of factor VII have a combined effect on promoter strength 100
Factor VIII gene (F8) mutations as predictors of outcome in immune tolerance induction (ITI) of hemophilia A patients with high-responding inhibitors 100
ABCB1 SNP rs4148738 modulation of apixaban interindividual variability 100
The risk of occurrence of venous thrombosis: focus on protein Z. 99
The Genetics of Hereditary Angioedema: A Review 98
De Novo p.Asp3368Gly Variant of Dystrophin Gene Associated with X-Linked Dilated Cardiomyopathy and Skeletal Myopathy: Clinical Features and In Silico Analysis 96
Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene 95
The spectrum of subclinical Best Vitelliform Macular Dystrophy in subjects with mutations in BEST1 gene. 91
Genome-wide association study identifies first locus associated with susceptibility to cerebral venous thrombosis 90
Genetic Background and Clinical Phenotype in an Italian Cohort with Inherited Arrhythmia Syndromes and Arrhythmogenic Cardiomyopathy (ACM): A Whole-Exome Sequencing Study 84
Investigation of a Large Kindred Reveals Cardiac Calsequestrin (CASQ2) as a Cause of Brugada Syndrome 84
Identification of ten novel mutations in factor VIII gene: A study of a cohort of 52 haemophilia A patients 84
Double de novo mutations in dilated cardiomyopathy with cardiac arrest 83
Age of onset of cerebral venous thrombosis: the BEAST study 77
Towards the genetic basis of cerebral venous thrombosis-the BEAST Consortium: a study protocol. 77
Severe bleeding and absent ADP-induced platelet aggregation associated with inherited combined CalDAG-GEFI and P2Y12 deficiencies. 77
Coma in adult cerebral venous thrombosis: The BEAST study 75
Gene-Gene Interaction Between Factor-XI and ABO Genes in Cerebral Venous Thrombosis The BEAST Study 73
Severe bleeding and absent ADP-induced platelet aggregation associated with inherited combined CalDAG-GEFI and P2Y12 deficiencies 70
Protein Z gene polymorphisms are associated with protein Z plasma levels 68
Prospective evaluation of pregnancy outcome in an Italian woman with late-onset combined homocystinuria and methylmalonic aciduria 65
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Polymorphic miRNA-mediated gene contribution to inhibitor development in haemophilia A 53
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Vasculopathy: a possible factor affecting hereditary angioedema 47
An Atypical Case of Idiopathic Nonhistaminergic Angioedema With Anti-C1-INH Antibodies 47
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The Role of Genetics in the Management of Heart Failure Patients 28
Clinical and Genetic Heterogeneity of Factor XI Deficiency: Insights from a Southern Italian Cohort 16
Unmasking Brugada ECG Pattern in Myotonic Dystrophy Type 2 With an ANK2 Variant 15
Unveiling Rare Genetic Variants in DAB2IP: New Insights Into the Pathogenesis of Recurrent Angioedema 13
Totale 11.070
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Categoria #
all - tutte 55.182
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 55.182
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022387 0 0 0 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
2025/20262.996 199 247 311 372 128 142 572 346 214 224 80 161
2026/2027875 100 221 195 359 0 0 0 0 0 0 0 0
Totale 11.079