IRIS
SANTACROCE, ROSA
 Distribuzione geografica
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Continente #
NA - Nord America 3.896
EU - Europa 3.414
AS - Asia 2.438
SA - Sud America 395
Continente sconosciuto - Info sul continente non disponibili 270
AF - Africa 48
OC - Oceania 4
Totale 10.465
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Nazione #
US - Stati Uniti d'America 3.821
CN - Cina 894
SG - Singapore 832
IE - Irlanda 737
IT - Italia 518
UA - Ucraina 483
RU - Federazione Russa 477
SE - Svezia 379
BR - Brasile 305
FR - Francia 228
HK - Hong Kong 195
DE - Germania 193
VN - Vietnam 163
FI - Finlandia 140
IN - India 119
GB - Regno Unito 83
TR - Turchia 70
NL - Olanda 38
AT - Austria 37
AR - Argentina 36
BD - Bangladesh 36
CA - Canada 31
IQ - Iraq 30
BE - Belgio 28
MX - Messico 18
PL - Polonia 18
CZ - Repubblica Ceca 15
CO - Colombia 14
ID - Indonesia 12
PK - Pakistan 12
ZA - Sudafrica 12
ES - Italia 11
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
CR - Costa Rica 6
BO - Bolivia 5
SA - Arabia Saudita 5
TN - Tunisia 5
DZ - Algeria 4
PA - Panama 4
PY - Paraguay 4
UY - Uruguay 4
AU - Australia 3
AZ - Azerbaigian 3
BB - Barbados 3
CH - Svizzera 3
DO - Repubblica Dominicana 3
ET - Etiopia 3
HN - Honduras 3
HR - Croazia 3
KE - Kenya 3
MY - Malesia 3
NI - Nicaragua 3
PE - Perù 3
RO - Romania 3
AL - Albania 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
GR - Grecia 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
Totale 10.195
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Città #
Dublin 737
San Jose 660
Chandler 460
Singapore 365
Jacksonville 340
Ashburn 272
Nyköping 243
Dearborn 212
Beijing 196
Hong Kong 195
Nanjing 162
Munich 103
Santa Clara 103
Council Bluffs 100
Wilmington 91
Dallas 79
Lauterbourg 78
Princeton 76
Nanchang 74
Foggia 70
New York 68
Ann Arbor 65
The Dalles 62
San Mateo 61
Boardman 58
Moscow 56
Helsinki 54
Ho Chi Minh City 48
Hanoi 45
Columbus 44
Bari 43
Shenyang 37
Woodbridge 36
Tianjin 34
Los Angeles 31
Hilden 28
São Paulo 28
Vienna 28
Shanghai 26
Jiaxing 25
Rome 25
Changsha 24
Hebei 24
Jinan 24
Milan 24
Turku 24
Des Moines 22
Kunming 22
Hangzhou 20
Brussels 18
Baghdad 16
Hillsboro 16
London 16
Nuremberg 16
Brno 15
Warsaw 15
Frankfurt am Main 14
Guangzhou 14
Chicago 13
Pune 13
Rio de Janeiro 13
Zhengzhou 13
Manfredonia 12
Toronto 12
Changchun 11
Modena 11
Buenos Aires 10
Lanzhou 10
Amman 9
Amsterdam 9
Ningbo 9
Tokyo 9
Augusta 8
Brooklyn 8
Florence 8
Fuzhou 8
Jakarta 8
Naples 8
San Severo 8
Shenzhen 8
Tashkent 8
Waanrode 8
Belo Horizonte 7
Buffalo 7
San Francisco 7
Seattle 7
Taranto 7
Auburn Hills 6
Chennai 6
Da Nang 6
Mexico City 6
Orange 6
Redwood City 6
Salvador 6
Thái Bình 6
Ankara 5
Bogotá 5
Borås 5
Boston 5
Brasília 5
Totale 6.184
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Nome #
A platelet defect modulates bleeding in mild hemophilia: the tale of 2 brothers. 166
A frameshift mutation in the human fibrinogen Aalpha-chain gene (Aalpha(499)Ala frameshift stop) leading to dysfibrinogen San Giovanni Rotondo 163
Mutation of the angiopoietin-1 gene (ANGPT1) associates with a new type of hereditary angioedema. 159
A polymorfism in VKORC1 gene is associated with an interindividual variability in the dose-anticoagulation effect of warfarin. 157
A New SERPINA-1 Missense Mutation Associated with Alpha-1 Antitrypsin Deficiency and Bronchiectasis 155
A G-to A mutation in IVS-3 of the human gamma fibrinogen gene causing afibrinogenemia due to abnormal RNA splicing 154
ADAMTS13 MUTATIONS AND POLYMORPHISMS IN CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA. 153
Angiopoietin-1 haploinsufficiency affects the endothelial barrier and causes hereditary angioedema 149
A successful pregnancy in a woman with late-onset combined homocystinuria and methylmalonic aciduria 148
In vitroresidual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU 147
ABCB1 SNP rs4148738 modulation of apixaban interindividual variability 144
A comprehensive on-line digestion-liquid chromatography/mass spectrometry/collision-induced dissociation mass spectrometry approach for the characterization of human fibrinogen. 143
COESISTENZA DI DUE PATOLOGIE RARE: TROMBOASTENIA DI GLANZMANN E SINDROME DI KARTAGENER 143
ABCB1 SNP rs4148738 modulation of apixaban interindividual variability 142
A Novel KCNN2 Variant in a Family with Essential Tremor Plus: Clinical Characteristics and In Silico Analysis 142
ETEROGENEITA' FENOTIPICA NELLE IPERFENILALANINEMIE ALL'INTERNO DELLO STESSO NUCLEO FAMILIARE. 141
Characterization of patients with angioedema without wheals: the importance of F12 gene screening 139
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. 136
The Genetics of Hereditary Angioedema: A Review 136
ANALISI MOLECOLARE E CORRELAZIONE GENOTIPO-FENOTIPO IN FAMIGLIE CON IPERFENILALANINEMIE. 135
Small Supernumerary Marker Chromosome Originating From Chromosome 10 Associated With an Apparently Normal Phenotype’ 135
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 134
A NOVEL NONSENSE TET2 MUTATION IN A PATIENT WITH PRIMARY MYELOFIBROSIS. 133
A polymorphism in the VKORC1 gene is associated with an interindividual variability in the dose-anticoagulant effect of warfarin 132
Detection of new deletions in a group of Italian patients with Hemophilia A by multiplex ligation-dependent probe amplification 131
The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype 130
A myoferlin gain-of-function variant associates with a new type of hereditary angioedema 130
A novel allele variant of the SERPINF2 gene responsible for severe plasmin inhibitor (α2-antiplasmin) deficiency in an Italian patient 124
A description of a new case of combined Factor V and Factor VIII deficiency: the LMAN1 M1T is a frequent cause in Italian patients. 123
A simple two-color array-based approach for mutation detection 123
THE MOLECULAR ORGANIZATION OF ENDOTHELIAL JUNCTIONS IN VASCULAR PERMEABILITY 123
Coexistence of beta-thalassemia and hereditary hemochromatosis in homozygosity: a possible synergic effect? 121
Mutation analysis in hyperphenylalaninemia patients from South Italy. 121
Characterization of hemoglobin bassett (alpha94Asp-->Ala), a variant with very low oxygen affinity. 120
Polymorphisms in genes involved in autoimmune disease and the risk of FVIII inhibitor development in Italian patients with haemophilia A. 119
Phenylalanine hydroxylase deficiency in south Italy: Genotype-phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsiveness 118
Polymorphisms in genes involved in autoimmune disease and the risk of FVIII inhibitor development in Italian patients with haemophilia A 118
Identification of fetal gender in maternal blood is a helpful tool in the prenatal diagnosis of haemophilia 117
Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A. 117
Polymorphisms in genes involved in autoimmune disease and the risk of FVIII inhibitor development in Italian patients with haemophilia A 117
Inherited abnormalities of fibrinogen: 10-year clinical experience of an Italian group. 115
Analysis of clinically relevant single-nucleotide polymorphisms by use of microelectronic array technology. 115
Low protein Z levels and risk of occurrence of deep vein thrombosis 114
Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene 113
Deep intronic variations may cause mild hemophilia A. 111
ABCB1 SNP rs4148738 modulation of apixaban interindividual variability 111
Clinical counselling in congenital fibrinogen disorders 110
Intra-familiar discordant PKU phenotype explained by mutation analysis in three pedigrees. 109
Identification of FVIII gene mutations in patients with hemophilia A using new combinatorial sequencing by hybridization. 108
Clinical histories and molecular characterization of two afibrinogenemic patients: insights into clinical management. 108
Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene. 108
Homozygosity by descent of a 3Mb chromosome 17 haplotype causes coinheritance of Glanzmann thrombasthenia and primary ciliary dyskinesia 108
DAB2IP associates with hereditary angioedema: Insights into the role of VEGF signaling in HAE pathophysiology 107
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 107
Prenatal diagnosis of haemophilia B: the Italian experience. 106
Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss. 106
Identification of GLA gene deletions in Fabry patients by Multiplex Ligation-dependent Probe Amplification (MLPA) 105
Factor V Arg2074Cys: a novel missense mutation in the C2 domain of factor V. 104
Novel AKAP9 mutation and long QT syndrome in a patient with torsades des pointes 103
Identification of the Novel G250R Variant Indicates a Role for Thrombomodulin in Modulating the Risk for Venous Thromboembolism 101
Identification of the Novel G250R Variant Indicates a Role for Thrombomodulin in Modulating the Risk for Venous Thromboembolism 98
Familial X;Y translocation with distinct phenotypic consequences: Characterization using FISH and array CGH. 97
Clinical utility of screening for CALR gene exon 9 mutations in patients with splanchnic venous thrombosis 97
Caveolin 3 Variant T78M in a Large Family With Brugada Syndrome: Clinical Features and Coexistence of ADRB1 and GRK5 Gene Mutation 96
Factor VIII gene (F8) mutations as predictors of outcome in immune tolerance induction (ITI) of hemophilia A patients with high-responding inhibitors 96
The risk of occurrence of venous thrombosis: focus on protein Z. 96
The first case of a small supernumerary marker chromosome derived from chromosome 10 in an adult woman with an apparently normal phenotype 96
Polymorphic changes in the 5' flanking region of factor VII have a combined effect on promoter strength 95
The Genetics of Hereditary Angioedema: A Review 93
ABCB1 SNP rs4148738 modulation of apixaban interindividual variability 93
A Report on a Targeted Screening Population for Alpha-1-Antitrypsin Deficiency (AATD) in Central-Southern Italy 92
Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene. 92
A Novel DLG1 Variant in a Family with Brugada Syndrome: Clinical Characteristics and In Silico Analysis 92
The spectrum of subclinical Best Vitelliform Macular Dystrophy in subjects with mutations in BEST1 gene. 88
Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene 87
Uncovering a Genetic Diagnosis in a Pediatric Patient by Whole Exome Sequencing: A Modeling Investigation in Wiedemann–Steiner Syndrome 85
De Novo p.Asp3368Gly Variant of Dystrophin Gene Associated with X-Linked Dilated Cardiomyopathy and Skeletal Myopathy: Clinical Features and In Silico Analysis 83
Identification of ten novel mutations in factor VIII gene: A study of a cohort of 52 haemophilia A patients 81
Double de novo mutations in dilated cardiomyopathy with cardiac arrest 81
Genome-wide association study identifies first locus associated with susceptibility to cerebral venous thrombosis 81
Genetic Background and Clinical Phenotype in an Italian Cohort with Inherited Arrhythmia Syndromes and Arrhythmogenic Cardiomyopathy (ACM): A Whole-Exome Sequencing Study 79
Towards the genetic basis of cerebral venous thrombosis-the BEAST Consortium: a study protocol. 75
Investigation of a Large Kindred Reveals Cardiac Calsequestrin (CASQ2) as a Cause of Brugada Syndrome 73
Severe bleeding and absent ADP-induced platelet aggregation associated with inherited combined CalDAG-GEFI and P2Y12 deficiencies. 73
Age of onset of cerebral venous thrombosis: the BEAST study 71
Coma in adult cerebral venous thrombosis: The BEAST study 70
Severe bleeding and absent ADP-induced platelet aggregation associated with inherited combined CalDAG-GEFI and P2Y12 deficiencies 66
Protein Z gene polymorphisms are associated with protein Z plasma levels 64
Gene-Gene Interaction Between Factor-XI and ABO Genes in Cerebral Venous Thrombosis The BEAST Study 61
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Prospective evaluation of pregnancy outcome in an Italian woman with late-onset combined homocystinuria and methylmalonic aciduria 59
Polymorphic miRNA-mediated gene contribution to inhibitor development in haemophilia A 51
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Vasculopathy: a possible factor affecting hereditary angioedema 43
An Atypical Case of Idiopathic Nonhistaminergic Angioedema With Anti-C1-INH Antibodies 43
The Role of Genetics in the Management of Heart Failure Patients 22
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Unveiling Rare Genetic Variants in DAB2IP: New Insights Into the Pathogenesis of Recurrent Angioedema 9
Unmasking Brugada ECG Pattern in Myotonic Dystrophy Type 2 With an ANK2 Variant 9
Totale 10.457
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Categoria #
all - tutte 52.396
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 52.396
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022400 0 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
2025/20262.996 199 247 311 372 128 142 572 346 214 224 80 161
2026/2027261 100 161 0 0 0 0 0 0 0 0 0 0
Totale 10.465