SANTACROCE, ROSA
 Distribuzione geografica
Continente #
NA - Nord America 3.680
EU - Europa 3.381
AS - Asia 2.419
SA - Sud America 390
AF - Africa 48
OC - Oceania 4
Continente sconosciuto - Info sul continente non disponibili 2
Totale 9.924
Nazione #
US - Stati Uniti d'America 3.611
CN - Cina 887
SG - Singapore 828
IE - Irlanda 737
IT - Italia 490
UA - Ucraina 483
RU - Federazione Russa 477
SE - Svezia 379
BR - Brasile 304
FR - Francia 227
DE - Germania 193
HK - Hong Kong 192
VN - Vietnam 163
FI - Finlandia 140
IN - India 119
GB - Regno Unito 83
TR - Turchia 70
AT - Austria 37
NL - Olanda 37
AR - Argentina 36
BD - Bangladesh 31
IQ - Iraq 30
CA - Canada 29
BE - Belgio 28
MX - Messico 17
PL - Polonia 17
CZ - Repubblica Ceca 15
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
CR - Costa Rica 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
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
HN - Honduras 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
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 9.923
Città #
Dublin 737
San Jose 637
Chandler 460
Singapore 361
Jacksonville 340
Ashburn 270
Nyköping 243
Dearborn 212
Beijing 192
Hong Kong 192
Nanjing 162
Munich 103
Santa Clara 97
Wilmington 90
Dallas 78
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
Bari 42
Shenyang 37
Woodbridge 36
Tianjin 34
Los Angeles 30
Hilden 28
São Paulo 28
Vienna 28
Jiaxing 25
Shanghai 25
Changsha 24
Hebei 24
Jinan 24
Turku 24
Des Moines 22
Kunming 22
Hangzhou 20
Milan 20
Council Bluffs 19
Brussels 18
Rome 18
Baghdad 16
Hillsboro 16
London 16
Nuremberg 16
Brno 15
Warsaw 15
Frankfurt am Main 14
Guangzhou 14
Pune 13
Rio de Janeiro 13
Zhengzhou 13
Chicago 12
Manfredonia 12
Changchun 11
Modena 11
Toronto 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
Orange 6
Redwood City 6
Salvador 6
Thái Bình 6
Ankara 5
Borås 5
Brasília 5
Cedar Knolls 5
Charlotte 5
Cutrofiano 5
Haiphong 5
Totale 6.003
Nome #
A platelet defect modulates bleeding in mild hemophilia: the tale of 2 brothers. 165
A frameshift mutation in the human fibrinogen Aalpha-chain gene (Aalpha(499)Ala frameshift stop) leading to dysfibrinogen San Giovanni Rotondo 159
Mutation of the angiopoietin-1 gene (ANGPT1) associates with a new type of hereditary angioedema. 155
A New SERPINA-1 Missense Mutation Associated with Alpha-1 Antitrypsin Deficiency and Bronchiectasis 153
A polymorfism in VKORC1 gene is associated with an interindividual variability in the dose-anticoagulation effect of warfarin. 152
A G-to A mutation in IVS-3 of the human gamma fibrinogen gene causing afibrinogenemia due to abnormal RNA splicing 152
ADAMTS13 MUTATIONS AND POLYMORPHISMS IN CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA. 150
In vitroresidual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU 146
A successful pregnancy in a woman with late-onset combined homocystinuria and methylmalonic aciduria 146
Angiopoietin-1 haploinsufficiency affects the endothelial barrier and causes hereditary angioedema 146
ABCB1 SNP rs4148738 modulation of apixaban interindividual variability 143
A comprehensive on-line digestion-liquid chromatography/mass spectrometry/collision-induced dissociation mass spectrometry approach for the characterization of human fibrinogen. 140
A Novel KCNN2 Variant in a Family with Essential Tremor Plus: Clinical Characteristics and In Silico Analysis 140
ABCB1 SNP rs4148738 modulation of apixaban interindividual variability 138
ETEROGENEITA' FENOTIPICA NELLE IPERFENILALANINEMIE ALL'INTERNO DELLO STESSO NUCLEO FAMILIARE. 136
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. 134
COESISTENZA DI DUE PATOLOGIE RARE: TROMBOASTENIA DI GLANZMANN E SINDROME DI KARTAGENER 134
ANALISI MOLECOLARE E CORRELAZIONE GENOTIPO-FENOTIPO IN FAMIGLIE CON IPERFENILALANINEMIE. 133
Small Supernumerary Marker Chromosome Originating From Chromosome 10 Associated With an Apparently Normal Phenotype’ 133
Characterization of patients with angioedema without wheals: the importance of F12 gene screening 133
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 131
A NOVEL NONSENSE TET2 MUTATION IN A PATIENT WITH PRIMARY MYELOFIBROSIS. 131
A polymorphism in the VKORC1 gene is associated with an interindividual variability in the dose-anticoagulant effect of warfarin 131
Detection of new deletions in a group of Italian patients with Hemophilia A by multiplex ligation-dependent probe amplification 128
The Genetics of Hereditary Angioedema: A Review 128
The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype 127
A myoferlin gain-of-function variant associates with a new type of hereditary angioedema 127
A novel allele variant of the SERPINF2 gene responsible for severe plasmin inhibitor (α2-antiplasmin) deficiency in an Italian patient 123
A description of a new case of combined Factor V and Factor VIII deficiency: the LMAN1 M1T is a frequent cause in Italian patients. 122
A simple two-color array-based approach for mutation detection 121
Coexistence of beta-thalassemia and hereditary hemochromatosis in homozygosity: a possible synergic effect? 119
Mutation analysis in hyperphenylalaninemia patients from South Italy. 118
Characterization of hemoglobin bassett (alpha94Asp-->Ala), a variant with very low oxygen affinity. 117
Polymorphisms in genes involved in autoimmune disease and the risk of FVIII inhibitor development in Italian patients with haemophilia A. 117
Polymorphisms in genes involved in autoimmune disease and the risk of FVIII inhibitor development in Italian patients with haemophilia A 117
Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A. 116
THE MOLECULAR ORGANIZATION OF ENDOTHELIAL JUNCTIONS IN VASCULAR PERMEABILITY 116
Identification of fetal gender in maternal blood is a helpful tool in the prenatal diagnosis of haemophilia 115
Phenylalanine hydroxylase deficiency in south Italy: Genotype-phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsiveness 115
Polymorphisms in genes involved in autoimmune disease and the risk of FVIII inhibitor development in Italian patients with haemophilia A 114
Inherited abnormalities of fibrinogen: 10-year clinical experience of an Italian group. 113
Analysis of clinically relevant single-nucleotide polymorphisms by use of microelectronic array technology. 112
Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene 110
Deep intronic variations may cause mild hemophilia A. 110
ABCB1 SNP rs4148738 modulation of apixaban interindividual variability 110
Clinical counselling in congenital fibrinogen disorders 109
Low protein Z levels and risk of occurrence of deep vein thrombosis 109
Homozygosity by descent of a 3Mb chromosome 17 haplotype causes coinheritance of Glanzmann thrombasthenia and primary ciliary dyskinesia 106
DAB2IP associates with hereditary angioedema: Insights into the role of VEGF signaling in HAE pathophysiology 105
Intra-familiar discordant PKU phenotype explained by mutation analysis in three pedigrees. 105
Identification of FVIII gene mutations in patients with hemophilia A using new combinatorial sequencing by hybridization. 105
Clinical histories and molecular characterization of two afibrinogenemic patients: insights into clinical management. 105
Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene. 105
Identification of GLA gene deletions in Fabry patients by Multiplex Ligation-dependent Probe Amplification (MLPA) 105
Prenatal diagnosis of haemophilia B: the Italian experience. 103
Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss. 103
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 103
Factor V Arg2074Cys: a novel missense mutation in the C2 domain of factor V. 101
Identification of the Novel G250R Variant Indicates a Role for Thrombomodulin in Modulating the Risk for Venous Thromboembolism 99
Novel AKAP9 mutation and long QT syndrome in a patient with torsades des pointes 99
Identification of the Novel G250R Variant Indicates a Role for Thrombomodulin in Modulating the Risk for Venous Thromboembolism 96
The first case of a small supernumerary marker chromosome derived from chromosome 10 in an adult woman with an apparently normal phenotype 95
Clinical utility of screening for CALR gene exon 9 mutations in patients with splanchnic venous thrombosis 95
Familial X;Y translocation with distinct phenotypic consequences: Characterization using FISH and array CGH. 94
Caveolin 3 Variant T78M in a Large Family With Brugada Syndrome: Clinical Features and Coexistence of ADRB1 and GRK5 Gene Mutation 93
Polymorphic changes in the 5' flanking region of factor VII have a combined effect on promoter strength 93
Factor VIII gene (F8) mutations as predictors of outcome in immune tolerance induction (ITI) of hemophilia A patients with high-responding inhibitors 93
The risk of occurrence of venous thrombosis: focus on protein Z. 93
Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene. 92
The Genetics of Hereditary Angioedema: A Review 92
ABCB1 SNP rs4148738 modulation of apixaban interindividual variability 92
A Report on a Targeted Screening Population for Alpha-1-Antitrypsin Deficiency (AATD) in Central-Southern Italy 89
A Novel DLG1 Variant in a Family with Brugada Syndrome: Clinical Characteristics and In Silico Analysis 88
The spectrum of subclinical Best Vitelliform Macular Dystrophy in subjects with mutations in BEST1 gene. 86
Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene 86
De Novo p.Asp3368Gly Variant of Dystrophin Gene Associated with X-Linked Dilated Cardiomyopathy and Skeletal Myopathy: Clinical Features and In Silico Analysis 81
Double de novo mutations in dilated cardiomyopathy with cardiac arrest 80
Identification of ten novel mutations in factor VIII gene: A study of a cohort of 52 haemophilia A patients 79
Uncovering a Genetic Diagnosis in a Pediatric Patient by Whole Exome Sequencing: A Modeling Investigation in Wiedemann–Steiner Syndrome 78
Genome-wide association study identifies first locus associated with susceptibility to cerebral venous thrombosis 78
Genetic Background and Clinical Phenotype in an Italian Cohort with Inherited Arrhythmia Syndromes and Arrhythmogenic Cardiomyopathy (ACM): A Whole-Exome Sequencing Study 73
Severe bleeding and absent ADP-induced platelet aggregation associated with inherited combined CalDAG-GEFI and P2Y12 deficiencies. 73
Investigation of a Large Kindred Reveals Cardiac Calsequestrin (CASQ2) as a Cause of Brugada Syndrome 71
Towards the genetic basis of cerebral venous thrombosis-the BEAST Consortium: a study protocol. 69
Coma in adult cerebral venous thrombosis: The BEAST study 67
Severe bleeding and absent ADP-induced platelet aggregation associated with inherited combined CalDAG-GEFI and P2Y12 deficiencies 66
Age of onset of cerebral venous thrombosis: the BEAST study 64
Protein Z gene polymorphisms are associated with protein Z plasma levels 62
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Prospective evaluation of pregnancy outcome in an Italian woman with late-onset combined homocystinuria and methylmalonic aciduria 57
Gene-Gene Interaction Between Factor-XI and ABO Genes in Cerebral Venous Thrombosis The BEAST Study 55
Polymorphic miRNA-mediated gene contribution to inhibitor development in haemophilia A 49
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An Atypical Case of Idiopathic Nonhistaminergic Angioedema With Anti-C1-INH Antibodies 41
Vasculopathy: a possible factor affecting hereditary angioedema 37
The Role of Genetics in the Management of Heart Failure Patients 19
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Unveiling Rare Genetic Variants in DAB2IP: New Insights Into the Pathogenesis of Recurrent Angioedema 6
Unmasking Brugada ECG Pattern in Myotonic Dystrophy Type 2 With an ANK2 Variant 6
Totale 10.189
Categoria #
all - tutte 50.296
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 50.296


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20212 0 0 0 0 0 0 0 0 0 0 0 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
2025/20262.984 199 247 311 372 128 142 572 346 214 224 80 149
Totale 10.192