IL PORTALE per la RICERCA dei DIPARTIMENTI

R. Ciccone, E. Rossi, O. Zuffardi (2012) "19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias."

Priori SG. (2012) "A clinical approach to inherited arrhythmias"

Crotti L. (2012) "A novel disease gene for Brugada syndrome: sarcolemmal membrane-associated protein gene mutations impair intracellular trafficking of hNav1.5."

Crotti L. (2012) "A novel rare variant in SCN1Bb linked to Brugada syndrome and SIDS by combined modulation of Na(v)1.5 and K(v)4.3 channel currents."

Galliano M, Minchiotti L. (2012) "A novel splicing mutation causes analbuminemia in a Portuguese boy."

Galliano M, Minchiotti L. (2012) "A novel two bases deletion in the albumin gene causes analbuminaemia in a young turkish man."

Passamonti F, Cazzola M (2012) "A prognostic model to predict survival in 867 WHO-defined essential thrombocythemia at diagnosis: a study by the IWG-MRT."

Galliano M, Minchiotti L. (2012) "A two-base-pairs deletion in the albumin gene causes a new case of analbuminemia."

M. Canepari, R. Bottinelli (2012) "Actomyosin kinetic of pure fast and slow rat myosin isoforms studied by in vitro motility assay approach"

Priori SG (2012) "An ICT infrastructure to integrate clinical and molecular data in oncology research."

Danesino C (2012) "Association of iniencephaly, anencephaly, and fusion of cervical vertebral bodies: a new autosomal recessive syndrome?"

Molteni E (2012) "Benzothiazinones Are Suicide Inhibitors of Mycobacterial Decaprenylphosphoryl-ß-d-ribofuranose 2'-Oxidase DprE1."

Speziale P (2012) "Biofilm formation in Staphylococcus implant infections. A review of molecular mechanisms and implications for biofilm-resistant materials."

Danesino C, Zuffardi O. (2012) "Blood cell mitochondrial DNA content and premature ovarian aging"

Malcovati L, Cazzola M (2012) "Clinical features and course of refractory anemia with ring sideroblasts associated with marked thrombocytosis"

Malcovati L, Cazzola M (2012) "Clinical significance of genetic aberrations in secondary acute myeloid leukemia."

O. Zuffardi (2012) "Cognitive and behavioral phenotype of a young man with a chromosome 13 deletion del(13)(q21.32q31.1)."

Palladini G, Merlini G. (2012) "Consensus guidelines for the conduct and reporting of clinical trials in systemic light-chain amyloidosis"

Balduini A, Di Buduo CA, Malara A (2012) "Constitutively released adenosine diphosphate regulates proplatelet formation by human megakaryocytes"

Salvaneschi L. (2012) "Cytokine genetic profile in Whipple's disease"

Valli Maurizia, Viglio Simona (2012) "Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix."

Passamonti F (2012) "Development and validation of an International Prognostic Score of thrombosis in WHO-Essential Thrombocythemia (IPSET-thrombosis)."

Vanoli E (2012) "Dietary Omega-3 Fatty Acids and Susceptibility to Ventricular Fibrillation: Lack of Protection and A Proarrhythmic Effect."

Previtali M (2012) "Differences in clinical features and in-hospital outcomes of older adults with tako-tsubo cardiomyopathy."

Passamonti F (2012) "Disease characteristics and clinical outcome in young adults with essential thrombocythemia versus early /prefibrotic primary myelofibrosis."

Palladini G, Merlini G. (2012) "Doxycycline plus tauroursodeoxycholic acid for transthyretin amyloidosis: a phase II study"

Arcaini L, Paulli M (2012) "Dysregulation of global microRNA expression in splenic marginal zone lymphoma and influence of chronic hepatitis C virus infection."

Livia Visai (2012) "Easily synthesized novel biodegradable copolyesters with adjustable properties for biomedical applications"

Visai L (2012) "Electromagnetic stimulation to optimize the bone regeneration capacity of gelatin-based cryogels"

Ermanno Gherardi (2012) "Engineered variants of InlB with an additional leucine-rich repeat discriminate between physiologically relevant and packing contacts in crystal structures of the InlB:MET complex"

Passamonti F (2012) "European Bone Marrow Working Group trial on reproducibility of World Health Organization criteria to discriminate essential thrombocythemia from prefibrotic primary myelofibrosis."

Scotti C. (2012) "Expanding targets for a metabolic therapy of cancer: L-asparaginase"

Priori SG (2012) "Flecainide and antiarrhythmic effects in a mouse model of catecholaminergic polymorphic ventricular tachycardia"

Malcovati L, Cazzola M (2012) "Frequent deletions of JARID2 in leukemic transformation of chronic myeloid malignancies."

Forlino A, Rossi A (2012) "Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis."

Priori SG (2012) "Genetics of ion-channel disorders"

Paulli M (2012) "Genomic aberrations affecting the outcome of immunodeficiency-related diffuse large B-cell lymphoma."

O. Zuffardi (2012) "Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency."

Laforenza U. (2012) "Hematopoietic progenitor and stem cells circulate by surfing on intracellular Ca2+ waves: A novel target for cell-based therapy and anti-cancer treatment?"

Mangione PP, Giorgetti S, Stoppini M, Bellotti V (2012) "Hereditary systemic amyloidosis due to Asp76Asn variant ß2-microglobulin."

O. Zuffardi (2012) "Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome."

Rossi E. (2012) "High Resolution X Chromosome-Specific Array-CGH Detects New CNVs in Infertile Males."

M. Luisetti (2012) "Impaired phagocytosis in macrophages from patients affected by lysinuric protein intolerance."

Passamonti F (2012) "Improving survival trends in primary myelofibrosis: an international study."

Passamonti F (2012) "Incidence and risk factors for bleeding in 1104 patients with essential thrombocythemia or prefibrotic myelofibrosis diagnosed according to the 2008 WHO criteria."

Priori SG (2012) "Inherited calcium channelopathies in the pathophysiology of arrhythmias."

Passamonti F (2012) "Initial bone marrow reticulin fibrosis in polycythemia vera exerts an impact on clinical outcome."

Visai L (2012) "Interactions of staphylococci with osteoblasts and phagocytes in the pathogenesis of implant-associated osteomyelitis."

Ricci Vittorio (2012) "Intoxication strategy of Helicobacter pylori VacA toxin."

Speziale P (2012) "Iron regulated surface determinant (Isd) proteins of Staphylococcus lugdunensis."

Mangione PP (2012) "Isolation and characterization of pharmaceutical grade human pentraxins, serum amyloid P component and C-reactive protein, for clinical use."

Corsico A (2012) "Knowledge and health care resource allocation: CME/CPD course guidelines-based efficacy."

M. Luisetti, I. Ferrarotti (2012) "Kruppel-like zinc finger proteins in end-stage COPD lungs with and without severe alpha1-antitrypsin deficiency."

R. Bottinelli (2012) "Lack of functional effects of neuromuscular electrical stimulation on skeletal muscle oxidative metabolism in healthy humans"

Cazzola M, Passamonti F (2012) "Leukemia risk models in primary myelofibrosis: an International Working Group study."

Passamonti F (2012) "Leukocytosis as an important risk factor for arterial thrombosis in WHO-defined early/prefibrotic myelofibrosis: An international study of 264 patients."

Cazzola M, Passamonti F. (2012) "Long term outcomes of 107 patients with myelofibrosis receiving JAK1/JAK2 inhibitor ruxolitinib: survival advantage in comparison to matched historical controls."

Arcaini L (2012) "MYD88 L265P somatic mutation in Waldenstrom’s Macroglobulinemia"

Rossi A, Forlino A (2012) "Matrix disruptions, growth, and degradation of cartilage with impaired sulfation."

Luisetti M, Viglio S (2012) "Micellar Electrokinetic Chromatography with Laser Induced Detection and liquid chromatography tandem mass-spectrometry-based desmosine assays in urine of patients with Chronic Obstructive Pulmonary Disease: A comparative analysis."

Priori SG. (2012) "Molecular Autopsy for Sudden Unexplained Death? Time to Discuss Pros and Cons."

Malcovati L (2012) "Multicentre validation of a reproducible flow cytometric score for the diagnosis of low-risk myelodysplastic syndromes: results of a European LeukemiaNET study."

L. Visai (2012) "Multifunctional bionanocomposite films of poly(lactic acid), cellulose nanocrystals and silver nanoparticles"

Passamonti F (2012) "Myeloproliferative Neoplasm (MPN) Symptom Assessment Form Total Symptom Score: Prospective International Assessment of an Abbreviated Symptom Burden Scoring System Among Patients With MPNs"

Palladini G., Merlini G. (2012) "New Criteria for Response to Treatment in Immunoglobulin Light Chain Amyloidosis Based on Free Light Chain Measurement and Cardiac Biomarkers: Impact on Survival Outcomes"

L. Visai (2012) "New Multifunctional Poly(lactide acid) Composites: Mechanical, Antibacterial, and Degradation Properties"

Gherardi E, Iamele L (2012) "Non-agonistic bivalent antibodies that promote c-MET degradation and inhibit tumor growth and others specific for tumor related c-MET"

Crotti L. (2012) "Not all beta-blockers are equal in the management of long QT syndrome types 1 and 2: higher recurrence of events under metoprolol."

Priori SG (2012) "Paradoxical Effect of Increased Diastolic Ca2+ Release and Decreased Sinoatrial Node Activity in a Mouse Model of Catecholaminergic Polymorphic Ventricular Tachycardia."

Bellotti V (2012) "Pathological Self-Aggregation ofb(2)-Microglobulin: A Challenge for Protein Biophysics."

F. Novara, O. Zuffardi (2012) "Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion."

M. Luisetti (2012) "Perspectives for improving the evaluation and access of therapies for rare lung diseases in Europe."

O. Zuffardi (2012) "Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature."

Luisetti M., Viglio S. (2012) "Profiling the Proteome of Exhaled Breath Condensate in Healthy Smokers and COPD Patients by LC-MS/MS."

Recusani F (2012) "Prognostic implications of left ventricular dilation in patients with nonischemic heart failure: interactions with restrictive filling pattern and mitral regurgitation."

Ermanno Gherardi (2012) "Protein Engineered Variants of Hepatocyte Growth Factor/Scatter Factor Promote Proliferation of Primary Human Hepatocytes and in Rodent Liver"

Passamonti F (2012) "RBC-transfusion guidelines update"

Cazzola M, Malcovati L (2012) "Rationale for the clinical application of flow cytometry in patients with myelodysplastic syndromes: position paper of an International Consortium and the European LeukemiaNet Working Group"

Forlino A (2012) "Replenishing cartilage from endogenous stem cells."

Bernasconi P (2012) "Report from the european myeloma network on interphase FISHin multiple myeloma and related disorders."

Malcovati L, Cazzola M (2012) "Revised international prognostic scoring system for myelodysplastic syndromes"

Arcaini L (2012) "Risk stratification for splenic marginal zone lymphoma based on hemoglobin, platelet count, high LDH level and extrahilar lymphadenopathy: development and validation on 593 cases"

FERRAROTTI I, Luisetti Maurizio (2012) "SERPINA1 PiZ and PiS Heterozygotes and Lung Function Decline in the SAPALDIA Cohort"

I. Ferrarotti, M. Luisetti (2012) "Serum levels and genotype distribution of alpha(1)-antitrypsin in the general population"

Arcaini L (2012) "Simplification of risk stratification for splenic marginal zone lymphoma: a point-based score for practical use."

Crotti L, Castelletti S, Torchio M (2012) "Spectrum and prevalence of mutations involving BrS1-12 susceptibility genes in a cohort of unrelated patients referred for Brugada Syndrome genetic testing: implications for genetic testing."

L. Malcovati (2012) "Standardization of flow cytometry in myelodysplastic syndromes: a report from an international consortium and the European LeukemiaNet Working Group."

Laforenza U, Bottino C (2012) "Store-operated Ca2+ entry is remodelled and controls in vitro angiogenesis in endothelial progenitor cells isolated from tumoral patients"

Molteni E (2012) "Structural Basis for Benzothiazinone-Mediated Killing of Mycobacterium tuberculosis."

Priori SG (2012) "Sudden Cardiac Death and Genetic Ion Channelopathies: Long QT, Brugada, Short QT, Catecholaminergic Polymorphic Ventricular Tachycardia, and Idiopathic Ventricular Fibrillation"

Ermanno Gherardi (2012) "Targeting MET in cancer: rationale and progress"

Gnecchi M (2012) "The Unstoppable Attraction for Induced Pluripotent Stem Cells : Are They the Magic Bullet for Modeling Inherited Arrhythmogenic Diseases?"

Arcaini L (2012) "The coding genome of splenic marginal zone lymphoma: activation of notch2 and other pathways regulating marginal zone development"

Speziale P (2012) "The immune evasion protein Sbi of Staphylococcus aureus occurs both extracellularly and anchored to the cell envelope by binding lipoteichoic acid."

AG Corsico (2012) "The impact of cigarette smoking on asthma: a population-based international cohort study."

O. Zuffardi (2012) "The introduction of arrays in prenatal diagnosis: a special challenge."

Visai L (2012) "The role of ionic interactions in the adherence of the Staphylococcus epidermidis adhesin SdrF to prosthetic material"

I. Ferrarotti, M. Luisetti (2012) "Three New Alpha1-Antitrypsin Deficiency Variants Help to Define a C-Terminal Region Regulating Conformational Change and Polymerization"

Crotti L (2012) "Torsade de Pointes following Acute Myocardial Infarction: Evidence for a Deadly Link with a Common Genetic Variant."

R. Bottinelli (2012) "Transplantation of Genetically Corrected Human iPSC-Derived Progenitors in Mice with Limb-Girdle Muscular Dystrophy"

Visai L (2012) "Tuning multi/pluri-potent stem cell fate by electrospun poly(L-lactic acid)-calcium-deficient hydroxyapatite nanocomposite mats"

Zuffardi O (2012) "Unexpected results in the constitution of small supernumerary marker chromosomes."

Cazzola M (2012) "Unraveling the genetic underpinnings of myeloproliferative neoplasms and understanding their effect on disease course and response to therapy: proceedings from the 6th International Post-ASH Symposium."

Crotti L., Vanoli E. (2012) "Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome."

Ricci V. (2012) "Rethinking VacA: a true multifunctional toxin or rather a novel type of monofunctional A-B toxins?"

Ricci V. (2012) "Transporting cargoes to mitochondria. A novel intracellular trafficking pathway unravelled by means of VacA toxin."