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Vascular injury post stent implantation: different gene expression modulation in human umbilical vein endothelial cells (HUVECs) modelA genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.Cutaneous venous malformations related to KRIT1 mutation: case report and literature review.New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.PDCD10 gene mutations in multiple cerebral cavernous malformationsCHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients.Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia.C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population.Role of XPC, XPD, XRCC1, GSTP genetic polymorphisms and Barrett's esophagus in a cohort of Italian subjects. A neural network analysis.ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion.HFE p.H63D polymorphism does not influence ALS phenotype and survival.Passively acquired anti-SSA/Ro antibodies are required for congenital heart block following ovodonation but maternal genes are not.Risk of venous thromboembolism associated with single and combined effects of Factor V Leiden, Prothrombin 20210A and Methylenetethraydrofolate reductase C677T: a meta-analysis involving over 11,000 cases and 21,000 controlsGenetic and cellular basis of cerebral cavernous malformations: implications for clinical management.Recurrent pericarditis: autoimmune or autoinflammatory?Genetic counselling in ALS: facts, uncertainties and clinical suggestions.Factors affecting formation and rupture of intracranial saccular aneurysms.Identification of an import signal for, and the nuclear localization of, human lactoferrin.An upstream negative regulatory element in human granulocyte-macrophage colony-stimulating factor promoter is recognised by AP1 family members.Genetic variability of the fructosamine 3-kinase gene in diabetic patients.ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations.Clues to detect tumor necrosis factor receptor-associated periodic syndrome (TRAPS) among patients with idiopathic recurrent acute pericarditis: results of a multicentre study.Idiopathic recurrent acute pericarditis: familial Mediterranean fever mutations and disease evolution in a large cohort of Caucasian patients.Novel FUS mutations identified through molecular screening in a large cohort of familial and sporadic amyotrophic lateral sclerosis.Whole exome sequencing reveals a novel de novo FOXC1 mutation in a patient with unrecognized Axenfeld-Rieger syndrome and glaucoma.Lactoferrin down-modulates the activity of the granulocyte macrophage colony-stimulating factor promoter in interleukin-1 beta-stimulated cells.A Novel Mathematical Approach to Define the Genes/SNPs Conferring Risk or Protection in Sporadic Amyotrophic Lateral Sclerosis Based on Auto Contractive Map Neural Networks and Graph Theory.SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies.Progressive parkinsonism, balance difficulties, and supranuclear gaze palsy.NOTCH3 gene mutations in subjects clinically suspected of CADASIL.Frequency of butyrylcholinesterase gene mutations in individuals with abnormal inhibition numbers: an Italian-population study.Variations in the coding and regulatory sequences of the angiogenin (ANG) gene are not associated to ALS (amyotrophic lateral sclerosis) in the Italian population.Lack of association of PON polymorphisms with sporadic ALS in an Italian population.Assessment of the role of genetic polymorphism in venous thrombosis through artificial neural networks.Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: the Italian multicentre study.SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study.Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II.Glutamate-cysteine ligase polymorphism, hypertension, and male sex are associated with cardiovascular events. Biochemical and genetic characterization of Italian subpopulation.Does Down's syndrome support the homocysteine theory of atherogenesis? Experience in elderly subjects with trisomy 21.
P50
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P50
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Silvana Penco
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Silvana Penco
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Silvana Penco
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Silvana Penco
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Silvana Penco
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Silvana Penco
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Silvana Penco
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Silvana Penco
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Silvana Penco
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Silvana Penco
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Silvana Penco
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Silvana Penco
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Silvana Penco
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Silvana Penco
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Silvana Penco
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P106
P1153
7004908418
P21
P31
P496
0000-0003-1050-095X