PEPE, GUGLIELMINA
 Distribuzione geografica
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Continente #
NA - Nord America 7.353
EU - Europa 5.415
AS - Asia 913
AF - Africa 33
SA - Sud America 2
Continente sconosciuto - Info sul continente non disponibili 1
OC - Oceania 1
Totale 13.718
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Nazione #
US - Stati Uniti d'America 7.336
PL - Polonia 1.544
RU - Federazione Russa 1.422
IE - Irlanda 586
SE - Svezia 482
UA - Ucraina 439
IT - Italia 345
DE - Germania 291
SG - Singapore 284
HK - Hong Kong 255
FI - Finlandia 130
CN - Cina 128
IN - India 85
GB - Regno Unito 84
JO - Giordania 57
TR - Turchia 42
VN - Vietnam 38
FR - Francia 36
CA - Canada 17
CI - Costa d'Avorio 17
SC - Seychelles 16
ES - Italia 13
NL - Olanda 12
CH - Svizzera 10
BE - Belgio 8
JP - Giappone 8
CZ - Repubblica Ceca 7
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
LA - Repubblica Popolare Democratica del Laos 1
NP - Nepal 1
NZ - Nuova Zelanda 1
PT - Portogallo 1
RO - Romania 1
Totale 13.718
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Città #
Warsaw 1.544
Santa Clara 1.120
Fairfield 866
Jacksonville 674
Chandler 662
Dublin 585
Ashburn 411
Woodbridge 365
Seattle 362
Cambridge 347
Wilmington 330
Houston 307
Singapore 231
Princeton 143
Boardman 135
Hong Kong 135
Boston 112
Ann Arbor 97
Mumbai 64
Buffalo 62
Altamura 56
Florence 54
San Diego 54
Lawrence 51
Medford 50
Beijing 39
Shanghai 33
Frankfurt Am Main 29
Kent 28
Milan 28
Moscow 28
Dong Ket 26
Los Angeles 25
New York 24
Norwalk 24
Munich 21
Dearborn 19
Izmir 19
West Jordan 18
Abidjan 17
Verona 15
Yubileyny 15
Hillsboro 14
Barcelona 13
Auburn Hills 12
Andover 10
Bern 10
Falls Church 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
Wuhan 4
Arezzo 3
Chicago 3
Detroit 3
Frankfurt am Main 3
Helsinki 3
Kilburn 3
London 3
Melita 3
Minamiuebaru 3
Padova 3
Salerno 3
Siena 3
Tehran 3
Tokyo 3
Antakya 2
Arnsberg 2
Bonito 2
Brescia 2
Drena 2
Genova 2
Hanoi 2
Hefei 2
Kowloon 2
Malmo 2
Montecchio Maggiore 2
Naples 2
Ottawa 2
Partinico 2
Pune 2
San Mateo 2
Segrate 2
Acton 1
Amsterdam 1
Auckland 1
Aversa 1
Bremen 1
Castelliri 1
Totale 9.469
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Nome #
Evidence for oxidative stress in plasma of patients with Marfan syndrome 258
Identification of fibrillin 1 gene mutations in patients with bicuspid aortic valve (BAV) without Marfan syndrome. 244
ACE and TBFGR1 genes interact in influencing the susceptibility to abdominal aortic aneurysm 241
A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy. 241
Improvement of low-density microelectronic array technology to characterize 14 mutations/single-nucleotide polymorphisms from several human genes on a large scale. 235
Vascular and connective tissue features in 5 italian patients with homocystinuria 233
PPARgamma promoter polymorphisms and acute coronary syndromes 223
Angiotensi-converting enzyme DD genotype, angiotensin type 1 receptor CC genotype, and hyperhomocysteinmeia increase first-trimester fetal-loss susceptibility 220
May TGFBR1 act also as low penetrance ellele in marfan syndrome? 196
Genetic bases of bicuspid aortic valve: The contribution of traditional and high-throughput sequencing approaches on research and diagnosis 175
Rheumatoid arthritis 172
Role of TGFBR1 and TGFBR2 genetic variants in Marfan syndrome 163
Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype 151
A Case Based Approach to Clinical Genetics of Thoracic Aortic Aneurysm/Dissection 149
Bicuspid aortic valve syndrome and fibrillinopathies: potential impact on clinical approach 147
Role of lipoprotein (a) and LPA KIV2 repeat polymorphism in bicuspid aortic valve stenosis and calcification: a proof of concept study 147
FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations. 138
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? 134
The high prevalence of thermolabile 5,10 methylenetetrahydrofolate reductase (MTHFR) in Italians is not associated to an increased risk for coronary artery disease (CAD) 130
Association of Marfan syndrome and bicuspid aortic valve: Frequency and outcome 129
Another piece in the puzzle of bicuspid aortic valve syndrome 129
A single heterozygous nucleotide substitution displays two different altered mechanisms in the FBN1 gene of five Italian Marfan patients 127
European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants 127
Hyperhomocysteinemia in renal transplant patients as independent cause of endothelial damage and cardiovascular disease. 125
Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. 123
AGT and ACE genes influence classic mitral valve prolapse predisposition in Marfan patients 121
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. 121
RISK FACTORS FOR CARDIOVASCULAR DISEASE IN RENAL TRANSPLANT RECIPIENTS: NEW INSIGHTS 120
Fibrillins in tendon 120
Fibroblast autofluorescence in connective tissue disorders: a future tool for clinical and differential diagnosis? 120
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. 116
Marfan syndrome: Current perspectives 116
An expanding role of biomarkers in acute aortic syndromes. 116
Usefulness of screening for congenital or acquired hemostatic abnormalities in women with previous complicated pregnancies. 115
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. 114
Elevated tissue factor and tissue factor pathway inhibitor circulating levels in ischaemic heart disease patients. 114
[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] 110
Diastolic subclinical primary alterations in Marfan syndrome and Marfan related disorders 110
FIBRILLIN-1 (FBN1) GENE FRAMESHIFT MUTATIONS IN MARFAN PATIENTS: GENOTYPE-PHENOTYPE CORRELATION 110
Effect of temperature and incubation time on D-dimer serum levels in healthy subjects. 109
TISSUE FACTOR AND HOMOCYSTEINE LEVELS IN ISCHEMIC HEART DISEASE ARE ASSOCIATED WITH ANGIOGRAPHICALLY DOCUMENTED CLINICAL RECURRENCES AFTER CORONARY ANGIOPLASTY 108
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 107
FIBRINOLYTIC PARAMETERS IN YOUNG ADULTS: THE FLOREN-TEEN ( FLORENCE TEENAGER) STUDY 105
Is ectopia lentis in some cases a mild phenotypic expression of Marfan syndrome? Need for a long-term follow-up. 104
Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy 103
Role of platelet glycoprotein PL(A1/A2) polymorphism in restenosis after percutaneous transluminal coronary angioplasty. 103
World distribution of the T833C/844INS68 CBS in cis double mutation: a reliable anthropological marker. 102
Sanger Validation of High-Throughput Sequencing in Genetic Diagnosis: Still the Best Practice? 102
D-dimer in the year 2000: current data and new perspectives 102
The role of cysteine and homocysteine in venous and arterial thrombotic disease. 101
The influence of smoking on von Willebrand factor is already manifest in healthy adolescent females: the Floren-teen (Florence Teenager) Study. 101
Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy 101
Tissue factor and tissue factor pathway inhibitor levels in unstable angina patients during short-term low-molecular-weight heparin administration. 100
Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen. 99
Tissue factor and plasminogen activator inhibitor type 2 expression in human stimulated monocytes is inhibited by heparin. 99
A gene conversion hotspot in the human growth hormone (GH1) gene promoter 99
Biosynthetic ratio of labelled globin chains in human reticulocytes, determined by electrophoresis on cellulose acetate. 98
Dural ectasia and FBN1 mutation screening of 40 patients with Marfan syndrome and related disorders: Role of dural ectasia for the diagnosis. 96
The C677T methylenetetrahydrofolate reductase mutation is not associated with Alzheimer's disease 95
Internal deletion in a collagen gene in a perinatal lethal form of Osteogenesis Imperfecta. 94
ANALYSIS OF THREE RFLPS OF THE COL1A2 (TYPE I COLLAGEN) IN THE AMHARA AND THE OROMO OF ETHIOPIA 94
Tissue factor reduction and tissue factor pathway inhibitor release after heparin administration. 94
Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. 93
Plasma and serum levels of D-dimer and their correlations with other hemostatic parameters in pregnancy. 93
Restriction fragment length polymorphisms of type I collagen locus 2 (COL1A2) in two communities of African ancestry and other mixed populations of northwestern Ecuador. 93
Phenotypic variability of cardiovascularmanifestations in Marfan Syndrome. Possible role of hyperhomocysteinemia andC677T MTHFR gene polymorphism. 93
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). 93
Thrombophilic risk factors in patients with central retinal vein occlusion. 92
RNA processing errors in patients with beta-thalassemia. 92
High prevalence of mild hyperhomocysteinemia in patients with abdominal aortic aneurysm 92
Monitoring of low-molecular-weight heparins in cardiovascular disease. 92
A major involvment of the cardiovascular system in patients affected by Marfan syndrome: novel mutations in fibrillin 1 gene. 91
Heterogeneity in world distribution of the thermolabile C677T mutation in 5,10-methylenetetrahydrofolate reductase. 91
Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts. 91
Studies on four restriction fragment length polymorphisms of the type I collagen genes in two Italian populations. 91
Prevalence of factor V Leiden mutation in non-European populations. 91
Relevance of post-methionine homocysteine and lipoprotein (a) in evaluating the cardiovascular risk in young CAD patients. 89
Mutational spectrum of the CTNS gene in Italy. 89
Acquired activated protein C resistance in postmenopausal women is dependent on factor VIII:c levels. 88
Growth hormone (GH1) gene variation and the growth hormone receptor (GHR) exon 3 deletion polymorphism in a West-African population 88
Magnetic resonance imaging evaluation of aortic elastic properties as early expression of Marfan syndrome. 87
COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy 86
Frequency of factor V (FV) Leiden and C677T methylenetetrahydrofolate reductase (MTHFR) mutations in Colombians. 86
Identification of a polymorphic CA repeat in the COL6A2 gene on human chromosome 21q22.3. 86
Muscle MRI findings in a three-generation family affected by Bethlem myopathy. 85
Different distribution of the double mutant "T833C/68 bp insertion" in cystathionine beta-synthase gene in Northern and Southern Italian populations. 83
Activated protein C resistance is a risk factor for central retinal vein occlusion 83
When should a rare inherited connective tissue disorder be suspected in bicuspid aortic valve by primary-care internists and cardiologists? Proposal of a score 83
Two-Dimensional Aortic Size Normalcy: A Novelty Detection Approach 83
Marfan's syndrome. Clinical and molecular characterization of 51 italian patients 83
Allele and haplotype frequency distribution of the EcoRI, RsaI, and MspI COL1A2 RFLPs among various human populations. 82
Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis. 81
Hyperhomocysteinemia in renal transplant patients: an independent factor of cardiovascular disease 81
Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonicmuscular dystrophy. 80
Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy. 80
Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands. 80
Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy. 79
ANALYSIS OF THE 3' END OF THE HUMAN PRO-ALPHA 2(I) COLLAGEN GENE: UTILIZATION OF MULTIPLE POLYADENILATION SITES IN CULTURED FIBROBLASTS. 78
Defects in DNA and globin mRNA in homozygotes for Hemoglobin Lepore 76
Differential diagnosis between marfan syndrome and loeys–dietz syndrome type 4: A novel chromosomal deletion covering tgfb2 76
Totale 11.576
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Categoria #
all - tutte 33.493
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 33.493
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.730 0 0 0 0 238 331 224 341 214 120 235 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
2024/20253.297 147 585 337 809 1.419 0 0 0 0 0 0 0
Totale 13.795