Find Research Outputs

2020

Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation

Weisschuh, N., Sturm, M., Baumann, B., Audo, I., Ayuso, C., Bocquet, B., Branham, K., Brooks, B. P., Catalá-Mora, J., Giorda, R., Heckenlively, J. R., Hufnagel, R. B., Jacobson, S. G., Kellner, U., Kitsiou-Tzeli, S., Matet, A., Martorell Sampol, L., Meunier, I., Rudolph, G., Sharon, D. & 5 others, Stingl, K., Streubel, B., Varsányi, B., Wissinger, B. & Kohl, S., 2020, In : Human Mutation. 41, p. 255-264 10 p.

Research output: Contribution to journalArticle

Color Vision Defects
Alleles
Computer Simulation
Genes
Phenotype

Defective interaction of mutant calreticulin and SOCE in megakaryocytes from patients with myeloproliferative neoplasms

Di Buduo, C. A., Abbonante, V., Marty, C., Moccia, F., Rumi, E., Pietra, D., Soprano, P. M., Lim, D., Cattaneo, D., Iurlo, A., Gianelli, U., Barosi, G., Rosti, V., Plo, I., Cazzola, M. & Balduini, A., Jan 9 2020, In : Blood. 135, 2, p. 133-144 12 p.

Research output: Contribution to journalArticle

Calreticulin
Megakaryocytes
Genes
Neoplasms
Endoplasmic Reticulum

Delay in schistosomiasis diagnosis and treatment: a multicenter cohort study in Italy

Comelli, A., Riccardi, N., Canetti, D., Spinicci, M., Cenderello, G., Magro, P., Nicolini, L. A., Marchese, V., Zammarchi, L., Castelli, F., Bartoloni, A., Di Biagio, A., Caligaris, S. & Gaiera, G., Feb 3 2020, In : Journal of Travel Medicine. 27, 1

Research output: Contribution to journalArticle

Schistosomiasis
Italy
Multicenter Studies
Cohort Studies
Serology

Delivery of Amplatzer Vascular Plug to Occlude EUS-Guided Cholecystoduodenostomy with Lumen-Apposing Metal Stent

Monfardini, L., Gennaro, N., Sallemi, C., Mauri, G. & De Cobelli, F., Jan 1 2020, (Accepted/In press) In : CardioVascular and Interventional Radiology.

Research output: Contribution to journalLetter

Denosumab in early breast cancer: negative data and a call to action

Perrone, F. & Gravina, A., Jan 2020, In : The Lancet Oncology. 21, 1, p. 5-6 2 p.

Research output: Contribution to journalComment/debate

De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype

Chilton, I., Okur, V., Vitiello, G., Selicorni, A., Mariani, M., Goldenberg, A., Husson, T., Campion, D., Lichtenbelt, K. D., van Gassen, K., Steinraths, M., Rice, J., Roeder, E. R., Littlejohn, R. O., Srour, M., Sebire, G., Accogli, A., Héron, D., Heide, S., Nava, C. & 15 others, Depienne, C., Larson, A., Niyazov, D., Azage, M., Hoganson, G., Burton, J., Rush, E. T., Jenkins, J. L., Saunders, C. J., Thiffault, I., Alaimo, J. T., Fleischer, J., Groepper, D., Gripp, K. W. & Chung, W. K., Jan 1 2020, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Agenesis of Corpus Callosum
Phenotype
Haploinsufficiency
Myotonic Dystrophy
Muscle Hypotonia

Design and rationale of the ERA-CVD consortium PREMED-CAD—precision medicine in coronary artery disease

Shrivastava, A., Marzolla, V., Weidmann, H., Caprio, M., Tregouet, D. A., Zeller, T. & Karakas, M., Jan 2020, In : Biomolecules. 10, 1, 125.

Research output: Contribution to journalArticle

Open Access
Medicine
Coronary Artery Disease
Cardiovascular Diseases
Myocardial Infarction
Biomarkers

Determinants of the esophageal-pleural pressure relationship in humans

Pasticci, I., Cadringher, P., Giosa, L., Umbrello, M., Formenti, P., Macri, M. M., Busana, M., Bonifazi, M., Romitti, F., Vassalli, F., Cressoni, M., Quintel, M., Chiumello, D. & Gattinoni, L., Jan 1 2020, In : Journal of applied physiology (Bethesda, Md. : 1985). 128, 1, p. 78-86 9 p.

Research output: Contribution to journalArticle

Pressure
Lung
Thoracic Wall
Supine Position
Tidal Volume

Developmental Outcomes of Aicardi Goutières Syndrome

Adang, L., Gavazzi, F., De Simone, M., Fazzi, E., Galli, J., Koh, J., Kramer-Golinkoff, J., De Giorgis, V., Orcesi, S., Peer, K., Ulrick, N., Woidill, S., Shults, J. & Vanderver, A., Jan 2020, In : Journal of Child Neurology. p. 7-16 10 p.

Research output: Contribution to journalArticle

Aicardi Syndrome
Communication
Genotype
Spastic Paraparesis
Microcephaly

Development and validation of a homemade, low-cost laparoscopic simulator for resident surgeons (LABOT)

Soriero, D., Atzori, G., Barra, F., Pertile, D., Massobrio, A., Conti, L., Gusmini, D., Epis, L., Gallo, M., Banchini, F., Capelli, P., Penza, V. & Scabini, S., Jan 2020, In : International Journal of Environmental Research and Public Health. 17, 1, 323.

Research output: Contribution to journalArticle

Open Access
Costs and Cost Analysis
Human Engineering
Students
Surgeons
Surveys and Questionnaires

Development and validation of the international Blue Light Imaging for Barrett's Neoplasia Classification

Subramaniam, S., Kandiah, K., Schoon, E., Aepli, P., Hayee, B., Pischel, A., Stefanovic, M., Alkandari, A., Coron, E., Omae, M., Baldaque-Silva, F., Maselli, R., Bisschops, R., Sharma, P., Repici, A. & Bhandari, P., Feb 2020, In : Gastrointestinal Endoscopy. 91, 2, p. 310-320 11 p.

Research output: Contribution to journalArticle

Light
Neoplasms
Barrett Esophagus
Endoscopy
Color

Development of a long non-coding RNA signature for prediction of response to neoadjuvant chemoradiotherapy in locally advanced rectal adenocarcinoma

Ferrando, L., Cirmena, G., Garuti, A., Scabini, S., Grillo, F., Mastracci, L., Isnaldi, E., Marrone, C., Gonella, R., Murialdo, R., Fiocca, R., Romairone, E., Ballestrero, A. & Zoppoli, G., Jan 1 2020, In : PLoS One. 15, 2, e0226595.

Research output: Contribution to journalArticle

Open Access
Chemoradiotherapy
Long Noncoding RNA
adenocarcinoma
Adenocarcinoma
prediction

Diabetes and diabetic retinopathy in patients undergoing cataract surgery: a prevalence study—DiCat study report #2

Rossi, T., Panozzo, G., Della Mura, G., Giannarelli, D., Ferrari, D., Alessio, G., Palmisano, C., Telani, S. & Ripandelli, G., Jan 1 2020, (Accepted/In press) In : Acta Diabetologica.

Research output: Contribution to journalArticle

Diabetic Retinopathy
Cataract
Edema
Cross-Sectional Studies
Fasting

Diagnosis and treatment of early and locally advanced non-small-cell lung cancer: The 2019 AIOM (Italian Association of Medical Oncology) clinical practice guidelines

Passiglia, F., Bertolaccini, L., Del Re, M., Facchinetti, F., Ferrara, R., Franchina, T., Malapelle, U., Menis, J., Passaro, A., Pilotto, S., Ramella, S., Rossi, G., Trisolini, R. & Novello, S., Apr 2020, In : Critical Reviews in Oncology/Hematology. 148, 102862.

Research output: Contribution to journalReview article

Medical Oncology
Practice Guidelines
Non-Small Cell Lung Carcinoma
Thorax
Physicians

Diagnosis and treatment of hypertensive emergencies and urgencies among Italian emergency and intensive care departments. Results from an Italian survey: Progetto GEAR (Gestione dell'Emergenza e urgenza in ARea critica)

Saladini, F., Mancusi, C., Bertacchini, F., Spannella, F., Maloberti, A., Giavarini, A., Rosticci, M., Bruno, R. M., Pucci, G., Grassi, D., Pengo, M. & Muiesan, M. L., Jan 2020, In : European Journal of Internal Medicine. 71, p. 50-56 7 p.

Research output: Contribution to journalArticle

Emergency Treatment
Emergency Medical Services
Critical Care
Italy
Ambulatory Blood Pressure Monitoring

Diagnostic accuracy and applicability of intestinal auto-antibodies in the wide clinical spectrum of coeliac disease

De Leo, L., Bramuzzo, M., Ziberna, F., Villanacci, V., Martelossi, S., Leo, G. D., Zanchi, C., Giudici, F., Pandullo, M., Riznik, P., Mascio, A. D., Ventura, A. & Not, T., Jan 2020, In : EBioMedicine. 51, p. 102567 1 p.

Research output: Contribution to journalArticle

Celiac Disease
Antibodies
Assays
Intestinal Mucosa
Gluten-Free Diet
Gadolinium
Cardiomyopathies
Observer Variation
Confidence Intervals
Breath Holding

Diagnostic performance of non-invasive imaging for stable coronary artery disease: A meta-analysis

Pontone, G., Guaricci, A. I., Palmer, S. C., Andreini, D., Verdecchia, M., Fusini, L., Lorenzoni, V., Guglielmo, M., Muscogiuri, G., Baggiano, A., Rabbat, M. G., Cademartiri, F. & Strippoli, G. F., Feb 1 2020, In : International Journal of Cardiology. 300, p. 276-281 6 p.

Research output: Contribution to journalArticle

Meta-Analysis
Coronary Artery Disease
Perfusion
Tomography
Positron-Emission Tomography

Diagnostic performance of non-invasive imaging for stable coronary artery disease: A meta-analysis

Pontone, G., Guaricci, A. I., Palmer, S. C., Andreini, D., Verdecchia, M., Fusini, L., Lorenzoni, V., Guglielmo, M., Muscogiuri, G., Baggiano, A., Rabbat, M. G., Cademartiri, F. & Strippoli, G. F., Feb 1 2020, In : International Journal of Cardiology. 300, p. 276-281 6 p.

Research output: Contribution to journalArticle

Meta-Analysis
Coronary Artery Disease
Perfusion
Tomography
Positron-Emission Tomography

Dietary flavonoids and respiratory diseases: A population-based multi-case-control study in Italian adults

Mattioli, V., Zanolin, M. E., Cazzoletti, L., Bono, R., Cerveri, I., Ferrari, M., Pirina, P. & Garcia-Larsen, V., Jan 1 2020, (Accepted/In press) In : Public Health Nutrition.

Research output: Contribution to journalArticle

Flavanones
Flavonoids
Case-Control Studies
Rhinitis
Population

Dietary inflammatory index and mortality: a cohort longitudinal study in a Mediterranean area

The MICOL group, Feb 1 2020, In : Journal of Human Nutrition and Dietetics. 33, 1, p. 138-146 9 p.

Research output: Contribution to journalArticle

Longitudinal Studies
Cohort Studies
Mortality
Confidence Intervals
Cardiovascular Diseases

Dietary patterns in italy and the risk of renal cell carcinoma

Dalmartello, M., Bravi, F., Serraino, D., Crispo, A., Ferraroni, M., La Vecchia, C. & Edefonti, V., Jan 2020, In : Nutrients. 12, 1, 134.

Research output: Contribution to journalArticle

Open Access
kidney cells
Renal Cell Carcinoma
eating habits
Italy
carcinoma

Differences in cognitive profiles between Lewy body and Parkinson’s disease dementia

Martini, A., Weis, L., Schifano, R., Pistonesi, F., Fiorenzato, E., Antonini, A. & Biundo, R., Jan 1 2020, (Accepted/In press) In : Journal of Neural Transmission.

Research output: Contribution to journalArticle

Parkinson Disease
Dementia
Lewy Body Disease
Stroop Test
Neuropsychological Tests

Difficult primary total knee arthroplasty requiring a varus-valgus constrained implant is at higher risk of periprosthetic infection

Costa, G. G., Lo Presti, M., Agrò, G., Vasco, C., Cialdella, S., Casali, M., Neri, M. P., Grassi, A. & Zaffagnini, S., Jan 25 2020, In : Knee Surgery, Sports Traumatology, Arthroscopy.

Research output: Contribution to journalArticle

Knee Replacement Arthroplasties
Infection
Operative Time
Knee
Kaplan-Meier Estimate

Digital Image Correlation (DIC) Assessment of the Non-Linear Response of the Anterior Longitudinal Ligament of the Spine during Flexion and Extension

Ruspi, M. L., Palanca, M., Cristofolini, L., Liebsch, C., Villa, T., Brayda-Bruno, M., Galbusera, F., Wilke, H-J. & La Barbera, L., Jan 14 2020, In : Materials. 13, 2, E384.

Research output: Contribution to journalArticle

Ligaments
Biomechanics
Strain measurement
Numerical models
Metabolites
High Pressure Liquid Chromatography
Plasmas
Urine
Metabolic Networks and Pathways

Disease-discordant twin structural MRI studies on affective disorders

Delvecchio, G., Pigoni, A., Bauer, I. E., Soares, J. C. & Brambilla, P., Jan 2020, In : Neuroscience and Biobehavioral Reviews. 108, p. 459-471 13 p.

Research output: Contribution to journalReview article

Open Access
Major Depressive Disorder
Mood Disorders
Bipolar Disorder
Magnetic Resonance Imaging
Brain

Distal motor neuropathy associated with novel EMILIN1 mutation

Iacomino, M., Doliana, R., Marchese, M., Capuano, A., Striano, P., Spessotto, P., Bosisio, G., Iodice, R., Manganelli, F., Lanteri, P., Orsini, A., Baldassari, S., Baratto, S., Fruscione, F., Prada, V., Broda, P., Tessa, A., Bertocci, G., Schenone, A., Colombatti, A. & 4 others, Minetti, C., Santorelli, F. M., Zara, F. & Fiorillo, C., Apr 2020, In : Neurobiology of Disease. 137, 104757.

Research output: Contribution to journalArticle

Open Access
Complementary RNA
Mutation
Zebrafish
Sensation Disorders
Exome

DNA methylation markers predict recurrence-free interval in triple-negative breast cancer

Fackler, M. J., Cho, S., Cope, L., Gabrielson, E., Visvanathan, K., Wilsbach, K., Meir-Levi, D., Lynch, C. F., Marks, J., Geradts, J., Regan, M. M., Viale, G., Wolff, A. C., Sukumar, S. & Umbricht, C. B., Dec 1 2020, In : npj Breast Cancer. 6, 1, 3.

Research output: Contribution to journalArticle

Open Access
Triple Negative Breast Neoplasms
DNA Methylation
Genetic Markers
Recurrence
Drug Therapy

Does acute peripheral trauma contribute to idiopathic adult-onset dystonia?

Italian Dystonia Registry Participants, Feb 2020, In : Parkinsonism and Related Disorders. 71, p. 40-43 4 p.

Research output: Contribution to journalArticle

Dystonic Disorders
Dystonia
Wounds and Injuries
Human Body
Registries

Does acute peripheral trauma contribute to idiopathic adult-onset dystonia?

Italian Dystonia Registry Participants, Jan 13 2020, In : Parkinsonism and Related Disorders. 71, p. 40-43 4 p.

Research output: Contribution to journalArticle

Dystonic Disorders
Dystonia
Wounds and Injuries
Human Body
Registries

Does a high-fat diet affect the development and progression of osteoarthritis in mice? A systematic review

Sansone, V., Applefield, R. C., De Luca, P., Pecoraro, V., Gianola, S., Pascale, W. & Pascale, V., 2020, In : Bone and Joint Research. 8, 12, p. 582-592 11 p.

Research output: Contribution to journalArticle

High Fat Diet
Osteoarthritis
Diet
Cartilage
Confidence Intervals

Does preterm birth affect child temperament? A meta-analytic study

Cassiano, R. G. M., Provenzi, L., Linhares, M. B. M., Gaspardo, C. M. & Montirosso, R., Feb 2020, In : Infant Behavior and Development. 58, 101417.

Research output: Contribution to journalReview article

Temperament
Premature Birth
Child Behavior
PubMed

Do grade II ankle sprains have chronic effects on the functional ability of ballet dancers performing single-leg flat-foot stance? An observational cross-sectional study

Bodini, B. D., Lucenteforte, G., Serafin, P., Barone, L., Vitale, J. A., Serafin, A., Sansone, V. & Negrini, F., Jan 1 2020, In : Applied Sciences (Switzerland). 10, 1, 155.

Research output: Contribution to journalArticle

Open Access
grade
proprioception
center of pressure
prognosis
histories
Bone Substitutes
Bone Regeneration
Maxillary Sinus
Transplants
Bone and Bones

Dosimetric Multicenter Planning Comparison Studies for Stereotactic Body Radiation Therapy: Methodology and Future Perspectives

Giglioli, F. R., Garibaldi, C., Blanck, O., Villaggi, E., Russo, S., Esposito, M., Marino, C., Stasi, M. & Mancosu, P., Feb 1 2020, In : International Journal of Radiation Oncology Biology Physics. 106, 2, p. 403-412 10 p.

Research output: Contribution to journalReview article

planning
radiation therapy
Radiotherapy
methodology
Credentialing

Double reading of diffusion-weighted magnetic resonance imaging for breast cancer detection

Rotili, A., Trimboli, R. M., Penco, S., Pesapane, F., Tantrige, P., Cassano, E. & Sardanelli, F., Jan 1 2020, (Accepted/In press) In : Breast Cancer Research and Treatment.

Research output: Contribution to journalArticle

Diffusion Magnetic Resonance Imaging
Reading
Breast
Breast Neoplasms
Mastectomy

Drug repurposing for anticancer therapies. A lesson from proton pump inhibitors

Spugnini, E. P. & Fais, S., Jan 2 2020, In : Expert Opinion on Therapeutic Patents. 30, 1, p. 15-25 11 p.

Research output: Contribution to journalArticle

Drug Repositioning
Proton Pump Inhibitors
Medical Economics
Proton-Translocating ATPases
Tumor Microenvironment

Dystonia: Sparse Synapses for D2 Receptors in Striatum of a DYT1 Knock-out Mouse Model

D'Angelo, V., Paldino, E., Cardarelli, S., Sorge, R., Fusco, F. R., Biagioni, S., Mercuri, N. B., Giorgi, M. & Sancesario, G., Feb 6 2020, In : International Journal of Molecular Sciences. 21, 3

Research output: Contribution to journalArticle

Open Access
knockout mice
synapses
Dystonia
Antibodies
Knockout Mice

Early Diagnose of Autism Spectrum Disorder Using Machine Learning Based on Simple Upper Limb Movements

Wedyan, M., Al-Jumaily, A. & Crippa, A., Jan 1 2020, Hybrid Intelligent Systems - 18th International Conference on Hybrid Intelligent Systems HIS 2018. Varela, M. L., Madureira, A. M., Gandhi, N. & Abraham, A. (eds.). Springer Verlag, p. 491-500 10 p. (Advances in Intelligent Systems and Computing; vol. 923).

Research output: Chapter in Book/Report/Conference proceedingConference contribution

Learning systems
Speech communication
Discriminant analysis
Sorting
Support vector machines

EasyPrimer: user-friendly tool for pan-PCR/HRM primers design. Development of an HRM protocol on wzi gene for fast Klebsiella pneumoniae typing

Perini, M., Piazza, A., Panelli, S., Di Carlo, D., Corbella, M., Gona, F., Vailati, F., Marone, P., Cirillo, D. M., Farina, C., Zuccotti, G. & Comandatore, F., Dec 1 2020, In : Scientific Reports. 10, 1, 1307.

Research output: Contribution to journalArticle

Open Access
Klebsiella pneumoniae
Freezing
Polymerase Chain Reaction
Bacterial Typing Techniques
Genes

Edge functionalized graphene layers for (ultra) high exfoliation in carbon papers and aerogels in the presence of chitosan

Guerra, S., Barbera, V., Vitale, A., Bongiovanni, R., Serafini, A., Conzatti, L., Brambilla, L. & Galimberti, M., Jan 1 2020, In : Materials. 13, 1, 39.

Research output: Contribution to journalArticle

Open Access
Pyrroles
Aerogels
Graphite
Chitosan
Graphene

Editorial: Molecular mechanisms and new therapeutic targets in epithelial to mesenchymal transition (EMT) and fibrosis

Battistelli, C., Diederich, M., Keane, T. J., Sandoval, P., Valente, S. & Strippoli, R., Jan 16 2020, In : Frontiers in Pharmacology. 10, p. 1-2 2 p., 1556.

Research output: Contribution to journalEditorial

Open Access

Editorial

Lamartina, C., Berjano, P. & Redaelli, A., Jan 1 2020, (Accepted/In press) In : European Spine Journal.

Research output: Contribution to journalEditorial

Open Access

Edwards SAPIEN Versus Medtronic Aortic Bioprosthesis in Women Undergoing Transcatheter Aortic Valve Implantation (from the Win-TAVI Registry)

WIN-TAVI Investigators, Feb 1 2020, In : American Journal of Cardiology. 125, 3, p. 441-448 8 p.

Research output: Contribution to journalArticle

Bioprosthesis
Registries
Stroke
Confidence Intervals
Aortic Valve Insufficiency
Recurrence
Lung Neoplasms
Survival
Second Primary Neoplasms
Neoplasm Metastasis

Effect of Rehabilitation Treatments on Disability in Persons With Disorders of Consciousness: A Propensity Score Study

Consortium on Functioning and Disability in Patients With DOC, 2020, In : Archives of Physical Medicine and Rehabilitation. 2020, 101, p. 95-105 11 p.

Research output: Contribution to journalArticle

Consciousness Disorders
Propensity Score
Disabled Persons
Rehabilitation
Therapeutics
Cerebral Palsy
Gait
Brain Injuries
Population
Robotics

Effects of acute exposure to moderate altitude on blood pressure and sleep breathing patterns

Torlasco, C., Bilo, G., Giuliano, A., Soranna, D., Ravaro, S., Oliverio, G., Faini, A., Zambon, A., Lombardi, C. & Parati, G., Feb 15 2020, In : International Journal of Cardiology. 301, p. 173-179 7 p.

Research output: Contribution to journalArticle

Sleep
Respiration
Blood Pressure
Central Sleep Apnea
Apnea