PEPE, GUGLIELMINA
 Distribuzione geografica
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Continente #
NA - Nord America 5.913
EU - Europa 4.106
AS - Asia 635
AF - Africa 16
SA - Sud America 2
Continente sconosciuto - Info sul continente non disponibili 1
OC - Oceania 1
Totale 10.674
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Nazione #
US - Stati Uniti d'America 5.897
PL - Polonia 1.544
IE - Irlanda 586
SE - Svezia 482
UA - Ucraina 439
IT - Italia 319
DE - Germania 270
HK - Hong Kong 255
RU - Federazione Russa 163
FI - Finlandia 129
CN - Cina 116
GB - Regno Unito 84
SG - Singapore 84
JO - Giordania 57
TR - Turchia 42
VN - Vietnam 38
FR - Francia 36
IN - India 21
CA - Canada 16
SC - Seychelles 16
ES - Italia 13
NL - Olanda 11
CH - Svizzera 10
BE - Belgio 8
JP - Giappone 7
CZ - Repubblica Ceca 6
KR - Corea 6
IR - Iran 4
MT - Malta 3
TW - Taiwan 2
AE - Emirati Arabi Uniti 1
AT - Austria 1
BR - Brasile 1
CL - Cile 1
CY - Cipro 1
EU - Europa 1
NP - Nepal 1
NZ - Nuova Zelanda 1
PT - Portogallo 1
RO - Romania 1
Totale 10.674
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Città #
Warsaw 1.544
Fairfield 866
Jacksonville 674
Chandler 662
Dublin 585
Ashburn 411
Woodbridge 365
Seattle 362
Cambridge 347
Wilmington 330
Houston 307
Princeton 143
Boardman 135
Hong Kong 135
Boston 112
Ann Arbor 97
Buffalo 62
Altamura 56
Singapore 55
San Diego 54
Lawrence 51
Medford 50
Florence 46
Beijing 39
Shanghai 33
Frankfurt Am Main 29
Kent 28
Dong Ket 26
Los Angeles 24
New York 24
Norwalk 24
Milan 21
Dearborn 19
Izmir 19
West Jordan 18
Verona 15
Hillsboro 14
Barcelona 13
Auburn Hills 12
Andover 10
Bern 10
Falls Church 10
Moscow 10
Toronto 10
Brussels 8
Capaccio 8
Guangzhou 8
Bologna 7
Fuzhou 7
Phoenix 7
Brno 6
Rome 6
Seoul 6
Chennai 4
Laurel 4
Portland 4
Redwood City 4
Arezzo 3
Chicago 3
Detroit 3
Kilburn 3
London 3
Melita 3
Minamiuebaru 3
Padova 3
Salerno 3
Siena 3
Tehran 3
Tokyo 3
Wuhan 3
Antakya 2
Arnsberg 2
Bonito 2
Brescia 2
Frankfurt am Main 2
Genova 2
Hanoi 2
Helsinki 2
Kowloon 2
Malmo 2
Montecchio Maggiore 2
Naples 2
Pune 2
San Mateo 2
Segrate 2
Acton 1
Amsterdam 1
Auckland 1
Aversa 1
Bremen 1
Castelliri 1
Cavriglia 1
Central 1
Chiswick 1
Cork 1
Cormeilles-en-Parisis 1
Dubai 1
Edinburgh 1
Evanston 1
Ferrara 1
Totale 8.020
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Nome #
Evidence for oxidative stress in plasma of patients with Marfan syndrome 229
Identification of fibrillin 1 gene mutations in patients with bicuspid aortic valve (BAV) without Marfan syndrome. 215
ACE and TBFGR1 genes interact in influencing the susceptibility to abdominal aortic aneurysm 214
A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy. 214
Vascular and connective tissue features in 5 italian patients with homocystinuria 213
PPARgamma promoter polymorphisms and acute coronary syndromes 206
Improvement of low-density microelectronic array technology to characterize 14 mutations/single-nucleotide polymorphisms from several human genes on a large scale. 205
Angiotensi-converting enzyme DD genotype, angiotensin type 1 receptor CC genotype, and hyperhomocysteinmeia increase first-trimester fetal-loss susceptibility 193
May TGFBR1 act also as low penetrance ellele in marfan syndrome? 173
Rheumatoid arthritis 155
Genetic bases of bicuspid aortic valve: The contribution of traditional and high-throughput sequencing approaches on research and diagnosis 139
Role of TGFBR1 and TGFBR2 genetic variants in Marfan syndrome 134
Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype 121
A Case Based Approach to Clinical Genetics of Thoracic Aortic Aneurysm/Dissection 118
Bicuspid aortic valve syndrome and fibrillinopathies: potential impact on clinical approach 116
European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants 114
Role of lipoprotein (a) and LPA KIV2 repeat polymorphism in bicuspid aortic valve stenosis and calcification: a proof of concept study 113
Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. 108
Fibrillins in tendon 106
A group of patients with Marfan's syndrome, who have finger and toe contractures, displays tendons' alterations upon an ultrasound examination: are these features common among classical Marfan patients? 104
Association of Marfan syndrome and bicuspid aortic valve: Frequency and outcome 101
FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations. 100
A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the a1 (VI) collagen chain in an Italian family affected by Bethlem myopathy. 98
A single heterozygous nucleotide substitution displays two different altered mechanisms in the FBN1 gene of five Italian Marfan patients 97
Another piece in the puzzle of bicuspid aortic valve syndrome 97
The high prevalence of thermolabile 5,10 methylenetetrahydrofolate reductase (MTHFR) in Italians is not associated to an increased risk for coronary artery disease (CAD) 97
AGT and ACE genes influence classic mitral valve prolapse predisposition in Marfan patients 95
A highly polymorphic (ACT)n VNTR (variable nucleotide of tandem repeats) locus inside intron 12 of COL1A2, one of the two genes involved in dominant osteogenesis imperfecta. 95
Fibroblast autofluorescence in connective tissue disorders: a future tool for clinical and differential diagnosis? 93
Hyperhomocysteinemia in renal transplant patients as independent cause of endothelial damage and cardiovascular disease. 91
RISK FACTORS FOR CARDIOVASCULAR DISEASE IN RENAL TRANSPLANT RECIPIENTS: NEW INSIGHTS 90
Usefulness of screening for congenital or acquired hemostatic abnormalities in women with previous complicated pregnancies. 89
Marfan syndrome: Current perspectives 89
Effect of temperature and incubation time on D-dimer serum levels in healthy subjects. 88
The role of cysteine and homocysteine in venous and arterial thrombotic disease. 86
A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen. 86
FIBRILLIN-1 (FBN1) GENE FRAMESHIFT MUTATIONS IN MARFAN PATIENTS: GENOTYPE-PHENOTYPE CORRELATION 86
The influence of smoking on von Willebrand factor is already manifest in healthy adolescent females: the Floren-teen (Florence Teenager) Study. 86
An expanding role of biomarkers in acute aortic syndromes. 86
[Paradigm shifts in aortic pathology: clinical and therapeutic implications. Clinical imaging in chronic and acute aortic syndromes. The aorta as a cause of cardiac disease] 85
Diastolic subclinical primary alterations in Marfan syndrome and Marfan related disorders 85
Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen. 84
Elevated tissue factor and tissue factor pathway inhibitor circulating levels in ischaemic heart disease patients. 84
FIBRINOLYTIC PARAMETERS IN YOUNG ADULTS: THE FLOREN-TEEN ( FLORENCE TEENAGER) STUDY 83
World distribution of the T833C/844INS68 CBS in cis double mutation: a reliable anthropological marker. 83
Biosynthetic ratio of labelled globin chains in human reticulocytes, determined by electrophoresis on cellulose acetate. 82
Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy 82
D-dimer in the year 2000: current data and new perspectives 81
Restriction fragment length polymorphisms of type I collagen locus 2 (COL1A2) in two communities of African ancestry and other mixed populations of northwestern Ecuador. 79
The C677T methylenetetrahydrofolate reductase mutation is not associated with Alzheimer's disease 79
ANALYSIS OF THREE RFLPS OF THE COL1A2 (TYPE I COLLAGEN) IN THE AMHARA AND THE OROMO OF ETHIOPIA 79
Tissue factor and plasminogen activator inhibitor type 2 expression in human stimulated monocytes is inhibited by heparin. 79
Internal deletion in a collagen gene in a perinatal lethal form of Osteogenesis Imperfecta. 78
RNA processing errors in patients with beta-thalassemia. 78
TISSUE FACTOR AND HOMOCYSTEINE LEVELS IN ISCHEMIC HEART DISEASE ARE ASSOCIATED WITH ANGIOGRAPHICALLY DOCUMENTED CLINICAL RECURRENCES AFTER CORONARY ANGIOPLASTY 77
Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. 77
Mutational spectrum of the CTNS gene in Italy. 77
A gene conversion hotspot in the human growth hormone (GH1) gene promoter 77
Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts. 75
Tissue factor and tissue factor pathway inhibitor levels in unstable angina patients during short-term low-molecular-weight heparin administration. 75
Magnetic resonance imaging evaluation of aortic elastic properties as early expression of Marfan syndrome. 75
Searching for a better assessment of the individual coronary risk profile. The role of angiotensin-converting-enzyme, angiotensin II type 1 receptor and angiotensinogen gene polymorphisms 75
Frequency of factor V (FV) Leiden and C677T methylenetetrahydrofolate reductase (MTHFR) mutations in Colombians. 74
High prevalence of mild hyperhomocysteinemia in patients with abdominal aortic aneurysm 74
Monitoring of low-molecular-weight heparins in cardiovascular disease. 74
Heterogeneity in world distribution of the thermolabile C677T mutation in 5,10-methylenetetrahydrofolate reductase. 73
Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy 73
Relevance of post-methionine homocysteine and lipoprotein (a) in evaluating the cardiovascular risk in young CAD patients. 72
Studies on four restriction fragment length polymorphisms of the type I collagen genes in two Italian populations. 72
Is ectopia lentis in some cases a mild phenotypic expression of Marfan syndrome? Need for a long-term follow-up. 72
Growth hormone (GH1) gene variation and the growth hormone receptor (GHR) exon 3 deletion polymorphism in a West-African population 72
Role of platelet glycoprotein PL(A1/A2) polymorphism in restenosis after percutaneous transluminal coronary angioplasty. 71
Identification of a polymorphic CA repeat in the COL6A2 gene on human chromosome 21q22.3. 71
Plasma and serum levels of D-dimer and their correlations with other hemostatic parameters in pregnancy. 70
Thrombophilic risk factors in patients with central retinal vein occlusion. 70
Dural ectasia and FBN1 mutation screening of 40 patients with Marfan syndrome and related disorders: Role of dural ectasia for the diagnosis. 70
Coexistence of three hemoglobins with different alpha-chains in two unrelated children (with family studies indicating polymorphism in the number of alpha-globin genes in the Sardinian population). 70
Muscle MRI findings in a three-generation family affected by Bethlem myopathy. 69
Sanger Validation of High-Throughput Sequencing in Genetic Diagnosis: Still the Best Practice? 69
Prevalence of factor V Leiden mutation in non-European populations. 69
Phenotypic variability of cardiovascularmanifestations in Marfan Syndrome. Possible role of hyperhomocysteinemia andC677T MTHFR gene polymorphism. 68
Tissue factor reduction and tissue factor pathway inhibitor release after heparin administration. 67
Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonicmuscular dystrophy. 66
Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands. 66
A major involvment of the cardiovascular system in patients affected by Marfan syndrome: novel mutations in fibrillin 1 gene. 64
Defects in DNA and globin mRNA in homozygotes for Hemoglobin Lepore 61
COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy 61
Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy. 61
Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis. 61
Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy. 61
Different distribution of the double mutant "T833C/68 bp insertion" in cystathionine beta-synthase gene in Northern and Southern Italian populations. 59
Allele and haplotype frequency distribution of the EcoRI, RsaI, and MspI COL1A2 RFLPs among various human populations. 58
Activated protein C resistance is a risk factor for central retinal vein occlusion 57
Acquired activated protein C resistance in postmenopausal women is dependent on factor VIII:c levels. 57
null 57
ANALYSIS OF THE 3' END OF THE HUMAN PRO-ALPHA 2(I) COLLAGEN GENE: UTILIZATION OF MULTIPLE POLYADENILATION SITES IN CULTURED FIBROBLASTS. 55
The pattern of thalassemia in Naples. 53
Collagen and extracellular matrix components in tumors 52
A quando un ruolo per la genetica nella pratica cardiologica? 52
Are the SSTR alleles stable enough to be considered monophyletic and hence reliable anthropogenetic markers? Linkage disequilibrium study on the (ACT)n COL1A2 SSTR. 52
Totale 9.242
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Categoria #
all - tutte 27.786
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 27.786
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20202.273 0 248 57 238 238 331 224 341 214 120 235 27
2020/20211.697 132 94 138 232 45 220 52 178 113 262 70 161
2021/2022820 21 55 36 36 43 51 12 43 59 44 169 251
2022/20232.340 244 278 78 223 228 444 310 151 253 7 88 36
2023/2024828 29 93 143 63 42 150 32 164 12 30 47 23
2024/2025253 147 106 0 0 0 0 0 0 0 0 0 0
Totale 10.751