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2019

Classification criteria for autoinflammatory recurrent fevers

Gattorno, M., Hofer, M., Federici, S., Vanoni, F., Bovis, F., Aksentijevich, I., Anton, J., Arostegui, J. I., Barron, K., Ben-Cherit, E., Brogan, P. A., Cantarini, L., Ceccherini, I., De Benedetti, F., Dedeoglu, F., Demirkaya, E., Frenkel, J., Goldbach-Mansky, R., Gul, A., Hentgen, V. & 23 others, Hoffman, H., Kallinich, T., Kone-Paut, I., Kuemmerle-Deschner, J., Lachmann, H. J., Laxer, R. M., Livneh, A., Obici, L., Ozen, S., Rowczenio, D., Russo, R., Shinar, Y., Simon, A., Toplak, N., Touitou, I., Uziel, Y., Van Gijn, M., Foell, D., Garassino, C., Kastner, D., Martini, A., Sormani, M. P. & Ruperto, N., Aug 1 2019, In : Annals of the Rheumatic Diseases. 78, 8, p. 1025-1032 8 p.

Research output: Contribution to journalArticle

Open Access
Hereditary Autoinflammatory Diseases
Lymphadenitis
Fever
Pharyngitis
mevalonate kinase

Classification criteria for autoinflammatory recurrent fevers

Gattorno, M., Hofer, M., Federici, S., Vanoni, F., Bovis, F., Aksentijevich, I., Anton, J., Arostegui, J. I., Barron, K., Ben-Cherit, E., Brogan, P. A., Cantarini, L., Ceccherini, I., De Benedetti, F., Dedeoglu, F., Demirkaya, E., Frenkel, J., Goldbach-Mansky, R., Gul, A., Hentgen, V. & 23 others, Hoffman, H., Kallinich, T., Kone-Paut, I., Kuemmerle-Deschner, J., Lachmann, H. J., Laxer, R. M., Livneh, A., Obici, L., Ozen, S., Rowczenio, D., Russo, R., Shinar, Y., Simon, A., Toplak, N., Touitou, I., Uziel, Y., van Gijn, M., Foell, D., Garassino, C., Kastner, D., Martini, A., Sormani, M. P. & Ruperto, N., Apr 24 2019, In : Annals of the Rheumatic Diseases.

Research output: Contribution to journalArticle

Hereditary Autoinflammatory Diseases
Lymphadenitis
Fever
Pharyngitis
mevalonate kinase

Climate changes and ST-elevation myocardial infarction treated with primary percutaneous coronary angioplasty

Versaci, F., Biondi-Zoccai, G., Giudici, A. D., Mariano, E., Trivisonno, A., Sciarretta, S., Valenti, V., Peruzzi, M., Cavarretta, E., Frati, G., Scappaticci, M., Federici, M. & Romeo, F., Nov 1 2019, In : International Journal of Cardiology. 294, p. 1-5 5 p.

Research output: Contribution to journalArticle

Clinical, Immunological, and Molecular Features of Typical and Atypical Severe Combined Immunodeficiency: Report of the Italian Primary Immunodeficiency Network

Cirillo, E., Cancrini, C., Azzari, C., Martino, S., Martire, B., Pession, A., Tommasini, A., Naviglio, S., Finocchi, A., Consolini, R., Pierani, P., D'Alba, I., Putti, M. C., Marzollo, A., Giardino, G., Prencipe, R., Esposito, F., Grasso, F., Scarselli, A., Di Matteo, G. & 15 others, Attardi, E., Ricci, S., Montin, D., Specchia, F., Barzaghi, F., Cicalese, M. P., Quaremba, G., Lougaris, V., Giliani, S., Locatelli, F., Rossi, P., Aiuti, A., Badolato, R., Plebani, A. & Pignata, C., 2019, In : Frontiers in Immunology. 10, p. 1908

Research output: Contribution to journalArticle

Severe Combined Immunodeficiency
Phenotype
Genetic Heterogeneity
Genetic Association Studies
Cell- and Tissue-Based Therapy

Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy

Motta, M., Giancotti, A., Mastromoro, G., Chandramouli, B., Pinna, V., Pantaleoni, F., Di Giosaffatte, N., Petrini, S., Mazza, T., D’Ambrosio, V., Versacci, P., Ventriglia, F., Chillemi, G., Pizzuti, A., Tartaglia, M. & De Luca, A., 2019, In : Human Mutation. 40, 8, p. 1046-1056 11 p.

Research output: Contribution to journalArticle

Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy

Motta, M., Giancotti, A., Mastromoro, G., Chandramouli, B., Pinna, V., Pantaleoni, F., Di Giosaffatte, N., Petrini, S., Mazza, T., D'Ambrosio, V., Versacci, P., Ventriglia, F., Chillemi, G., Pizzuti, A., Tartaglia, M. & De Luca, A., May 6 2019, In : Human Mutation.

Research output: Contribution to journalArticle

Hypertrophic Cardiomyopathy
Mitogen-Activated Protein Kinases
Mutation
Noonan Syndrome
Mutant Proteins

Clinical and genetic findings of two cases with Apert syndrome

Cammarata-Scalisi, F., Yilmaz, E., Callea, M., Avendaño, A., Mıhçı, E. & Alper, O. M., Jan 11 2019, In : Boletin Medico del Hospital Infantil de Mexico. 76, 1, p. 44-48 5 p.

Research output: Contribution to journalArticle

Acrocephalosyndactylia
Craniosynostoses
Cranial Sutures
Hypertelorism
Syndactyly

Clinical applications of donor lymphocyte infusion from an HLA-haploidentical donor: consensus recommendations from the acute leukemia working party of the EBMT

Dholaria, B., Savani, B. N., Labopin, M., Luznik, L., Ruggeri, A., Mielke, S., Al Malki, M. M., Kongtim, P., Fuchs, E., Huang, X-J., Locatelli, F., Aversa, F., Castagna, L., Bacigalupo, A., Martelli, M., Blaise, D., Ben Soussan, P., Arnault, Y., Handgretinger, R., Roy, D-C. & 19 others, O'Donnell, P., Bashey, A., Solomon, S., Romee, R., Lewalle, P., Gayoso, J., Maschan, M., Lazarus, H. M., Ballen, K., Giebel, S., Baron, F., Ciceri, F., Esteve, J., Gorin, N-C., Spyridonidis, A., Schmid, C., Ciurea, S. O., Nagler, A. & Mohty, M., Sep 19 2019, In : Haematologica.

Research output: Contribution to journalArticle

Leukemia
Tissue Donors
Lymphocytes
Cell Transplantation
Transplantation

Clinical delineation of 18q11-q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects

Rojnueangnit, K., Charalsawadi, C., Thammachote, W., Pradabmuksiri, A., Tim-Aroon, T., Novelli, A., Loddo, S., Briuglia, S., Concetta, C. M., Wattanasirichaigoon, D. & Jinawath, N., Sep 2019, In : Molecular genetics & genomic medicine. 7, 9, p. e896

Research output: Contribution to journalArticle

Speech Disorders
Intellectual Disability
Genetic Association Studies
Language Development Disorders
Phenotype

Clinical features of patients with systemic lupus erythematosus according to health-related quality of life, entity of pain, fatigue and depression: a cluster analysis

Margiotta, D. P. E., Fasano, S., Basta, F., Pierro, L., Riccardi, A., Navarini, L., Valentini, G. & Afeltra, A., May 30 2019, In : Clinical and Experimental Rheumatology. 37, 4, p. 535-539 5 p.

Research output: Contribution to journalArticle

Systemic Lupus Erythematosus
Fatigue
Cluster Analysis
Quality of Life
Depression

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy

Verrigni, D., Di Nottia, M., Ardissone, A., Baruffini, E., Nasca, A., Legati, A., Bellacchio, E., Fagiolari, G., Martinelli, D., Fusco, L., Battaglia, D., Trani, G., Versienti, G., Marchet, S., Torraco, A., Rizza, T., Verardo, M., D'Amico, A., Diodato, D., Moroni, I. & 7 others, Lamperti, C., Petrini, S., Moggio, M., Goffrini, P., Ghezzi, D., Carrozzo, R. & Bertini, E., May 2019, In : Human Mutation. 40, 5, p. 601-618 18 p.

Research output: Contribution to journalArticle

Dynamin I
Mitochondria
Muscles
Peroxisomes
Organelles

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy

Verrigni, D., Di Nottia, M., Ardissone, A., Baruffini, E., Nasca, A., Legati, A., Bellacchio, E., Fagiolari, G., Martinelli, D., Fusco, L., Battaglia, D., Trani, G., Versienti, G., Marchet, S., Torraco, A., Rizza, T., Verardo, M., D'Amico, A., Diodato, D., Moroni, I. & 7 others, Lamperti, C., Petrini, S., Moggio, M., Goffrini, P., Ghezzi, D., Carrozzo, R. & Bertini, E., May 1 2019, In : Human Mutation. 40, 5, p. 601-618 18 p.

Research output: Contribution to journalArticle

Dynamin I
Mitochondria
Muscles
Peroxisomes
Organelles

Clinical Operational Tolerance and Immunosuppression Minimization in Kidney Transplantation: Where Do We Stand?

Manzia, T. M., Gazia, C., Baiocchi, L., Lenci, I., Milana, M., Santopaolo, F., Angelico, R. & Tisone, G., Mar 13 2019, In : Reviews on Recent Clinical Trials.

Research output: Contribution to journalArticle

Kidney Transplantation
Immunosuppression
Kidney
Transplantation
Biomarkers

Clinical Practice Guidelines for Epidermolysis Bullosa Laboratory Diagnosis

Has, C., Liu, L., Bolling, M., Charlesworth, A. V., El Hachem, M., Escámez, M. J., Fuentes, I., Büchel, S., Hiremagalore, R., Pohla-Gubo, G., van den Akker, P., Wertheim-Tysarowska, K. & Zambruno, G., May 15 2019, In : British Journal of Dermatology.

Research output: Contribution to journalArticle

Epidermolysis Bullosa
Clinical Laboratory Techniques
Practice Guidelines
Guidelines
Preimplantation Diagnosis

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Koczkowska, M., Callens, T., Chen, Y., Gomes, A., Hicks, A. D., Sharp, A., Johns, E., Uhas, K. A., Armstrong, L., Bosanko, K. A., Babovic-Vuksanovic, D., Baker, L., Basel, D. G., Bengala, M., Bennett, J. T., Chambers, C., Clarkson, L. K., Clementi, M., Cortés, F. M., Cunningham, M. & 88 others, D'Agostino, M. D., Delatycki, M. B., Digilio, M. C., Dosa, L., Esposito, S., Fox, S., Freckmann, M. L., Fauth, C., Giugliano, T., Giustini, S., Goetsch, A., Goldberg, Y., Greenwood, R. S., Griffis, C., Gripp, K. W., Gupta, P., Haan, E., Hachen, R. K., Haygarth, T. L., Hernández-Chico, C., Hodge, K., Hopkin, R. J., Hudgins, L., Janssens, S., Keller, K., Kelly-Mancuso, G., Kochhar, A., Korf, B. R., Lewis, A. M., Liebelt, J., Lichty, A., Listernick, R. H., Lyons, M. J., Maystadt, I., Martinez Ojeda, M., McDougall, C., McGregor, L. K., Melis, D., Mendelsohn, N., Nowaczyk, M. J. M., Ortenberg, J., Panzer, K., Pappas, J. G., Pierpont, M. E., Piluso, G., Pivnick, E. K., Pinna, V., Pond, D. A., Powell, C. M., Rogers, C., Ruhrman Shahar, N., Rutledge, S. L., Saletti, V., Sandaradura, S. A., Santoro, C., Schatz, U. A., Schreiber, A., Scott, D. A., Sellars, E. A., Sheffer, R., Siqveland, E., Slopis, J. M., Smith, R., Spalice, A., Stockton, D. W., Streff, H., Theos, A., Tomlinson, G. E., Tran, G., Trapane, P. L., Trevisson, E., Ullrich, N. J., Van den Ende, J., Schrier Vergano, S. A., Wallace, S. E., Wangler, M. F., Weaver, D. D., Yohay, K. H., Zackai, E., Zonana, J., Zurcher, V., Claes, K. B. M., Eoli, M., Martin, Y., Wimmer, K., De Luca, A., Legius, E. & Messiaen, L. M., Jan 1 2019, (Accepted/In press) In : Human Mutation.

Research output: Contribution to journalArticle

Open Access
Neurofibroma
Neurofibromatosis 1
Plexiform Neurofibroma
Optic Nerve Glioma
Cardiovascular Abnormalities

Clofarabine and Treosulfan as Conditioning for Matched Related and Unrelated Hematopoietic Stem Cell Transplantation: Results from the Clo3o Phase II Trial

Peccatori, J., Mastaglio, S., Giglio, F., Greco, R., Crocchiolo, R., Patriarca, F., Forno, B., Deola, S., Assanelli, A., Lupo Stanghellini, M. T., Marcatti, M., Zecca, M., Cortelazzo, S., Fanin, R., Fagioli, F., Locatelli, F. & Ciceri, F., Jan 1 2019, (Accepted/In press) In : Biology of Blood and Marrow Transplantation.

Research output: Contribution to journalArticle

Coated cationic lipid-nanoparticles entrapping miR-660 inhibit tumor growth in patient-derived xenografts lung cancer models

Moro, M., Di Paolo, D., Milione, M., Centonze, G., Bornaghi, V., Borzi, C., Gandellini, P., Perri, P., Pastorino, U., Ponzoni, M., Sozzi, G. & Fortunato, O., Aug 28 2019, In : Journal of Controlled Release. 308, p. 44-56 13 p.

Research output: Contribution to journalArticle

Open Access
Heterografts
Nanoparticles
Lung Neoplasms
Lipids
MicroRNAs

Cocirculation of Hajj and non-Hajj strains among serogroup W meningococci in Italy, 2000 to 2016

Fazio, C., Neri, A., Vacca, P., Ciammaruconi, A., Arghittu, M., Barbui, A. M., Vocale, C., Bernaschi, P., Isola, P., Galanti, I. A., Mencacci, A., De Nittis, R., Chironna, M., Giammanco, A., Pagani, E., Bisbano, A. & Stefanelli, P., Jan 2019, In : Euro surveillance : bulletin Europeen sur les maladies transmissibles = European communicable disease bulletin. 24, 4

Research output: Contribution to journalArticle

Neisseria meningitidis
Italy
Penicillin G
Cefotaxime
Ceftriaxone

Cocirculation of Hajj and non-Hajj strains among serogroup W meningococci in Italy, 2000 to 2016

Fazio, C., Neri, A., Vacca, P., Ciammaruconi, A., Arghittu, M., Barbui, A. M., Vocale, C., Bernaschi, P., Isola, P., Galanti, I. A., Mencacci, A., De Nittis, R., Chironna, M., Giammanco, A., Pagani, E., Bisbano, A. & Stefanelli, P., 2019, In : Eurosurveillance. 24, 4

Research output: Contribution to journalArticle

Coffee and tea drinking in relation to the risk of differentiated thyroid carcinoma: results from the European Prospective Investigation into Cancer and Nutrition (EPIC) study

Zamora-Ros, R., Alghamdi, M. A., Cayssials, V., Franceschi, S., Almquist, M., Hennings, J., Sandström, M., Tsilidis, K. K., Weiderpass, E., Boutron-Ruault, M. C., Hammer Bech, B., Overvad, K., Tjønneland, A., Petersen, K. E. N., Mancini, F. R., Mahamat-Saleh, Y., Bonnet, F., Kühn, T., Fortner, R. T., Boeing, H. & 27 others, Trichopoulou, A., Bamia, C., Martimianaki, G., Masala, G., Grioni, S., Panico, S., Tumino, R., Fasanelli, F., Skeie, G., Braaten, T., Lasheras, C., Salamanca-Fernández, E., Amiano, P., Chirlaque, M. D., Barricarte, A., Manjer, J., Wallström, P., Bueno-de-Mesquita, H. B., Peeters, P. H., Khaw, K. T., Wareham, N. J., Schmidt, J. A., Aune, D., Byrnes, G., Scalbert, A., Agudo, A. & Rinaldi, S., Dec 1 2019, In : European Journal of Nutrition. 58, 8, p. 3303-3312 10 p.

Research output: Contribution to journalArticle

Cognitive speed and white matter integrity in secondary progressive multiple sclerosis

Manca, R., Stabile, M. R., Bevilacqua, F., Cadorin, C., Piccione, F., Sharrack, B. & Venneri, A., May 1 2019, In : Multiple Sclerosis and Related Disorders. 30, p. 198-207 10 p.

Research output: Contribution to journalArticle

Chronic Progressive Multiple Sclerosis
Aptitude
Spatial Analysis
Corpus Callosum
Task Performance and Analysis

Colonization and infection due to carbapenemase-producing Enterobacteriaceae in liver and lung transplant recipients and donor-derived transmission: a prospective cohort study conducted in Italy

the SInT Collaborative Study Group, Microbiology investigators & Clinical investigators, 2019, In : Clinical Microbiology and Infection. 25, 2, p. 203-209

Research output: Contribution to journalArticle

Enterobacteriaceae
Italy
Cohort Studies
Tissue Donors
Prospective Studies

Colorectal surgery in Italy: a snapshot from the iCral study group

The Italian ColoRectal Anastomotic Leakage (iCral) study group, Jun 1 2019, In : Updates in Surgery. 71, 2, p. 339-347 9 p.

Research output: Contribution to journalArticle

Colorectal Surgery
Anastomotic Leak
Italy
Reoperation
Morbidity

Combinations of immuno-checkpoint inhibitors predictive biomarkers only marginally improve their individual accuracy

Pallocca, M., Angeli, D., Palombo, F., Sperati, F., Milella, M., Goeman, F., De Nicola, F., Fanciulli, M., Nisticò, P., Quintarelli, C. & Ciliberto, G., Apr 23 2019, In : Journal of Translational Medicine. 17, 1, p. 131

Research output: Contribution to journalArticle

Biomarkers
Area Under Curve
Microsatellite Instability
Microsatellite Repeats
Tumors

Combined surgery and radiotherapy as curative treatment for tracheal adenoid cystic carcinoma: a case report

Spinelli, G. P., Miele, E., Prete, A. A., Lo Russo, G., Di Marzo, A., Di Cristofano, C. & Tomao, S., Mar 6 2019, In : Journal of Medical Case Reports. 13, 1, p. 52

Research output: Contribution to journalArticle

Adenoid Cystic Carcinoma
Radiotherapy
Trachea
Therapeutics
Survival

Common Community-acquired Bacterial Skin and Soft-tissue Infections in Children: an Intersociety Consensus on Impetigo, Abscess, and Cellulitis Treatment

Society, I. P. I. D., Society, T. I. P. D., Galli, L., Venturini, E., Bassi, A., Gattinara, G. C., Chiappini, E., Defilippi, C., Diociaiuti, A., Esposito, S., Garazzino, S., Giannattasio, A., Krzysztofiak, A., Latorre, S., Lo Vecchio, A., Marchisio, P., Montagnani, C., Nicolini, G., Novelli, A., Rossolini, G. M. & 4 others, Tersigni, C., Villani, A., El Hachem, M. & Neri, I., Mar 1 2019, In : Clinical Therapeutics. 41, 3, p. 532-551.e17

Research output: Contribution to journalArticle

Impetigo
Soft Tissue Infections
Cellulitis
Abscess
Orbital Cellulitis

Comorbid Personality Disorders in Individuals With an At-Risk Mental State for Psychosis: A Meta-Analytic Review

Boldrini, T., Tanzilli, A., Pontillo, M., Chirumbolo, A., Vicari, S. & Lingiardi, V., 2019, In : Frontiers in Psychiatry. 10, p. 429

Research output: Contribution to journalArticle

Personality Disorders
Psychotic Disorders
Personality
Schizotypal Personality Disorder
Borderline Personality Disorder

Complications and risk factors for severe outcome in children with measles

Group, SITIP. M. S., Lo Vecchio, A., Krzysztofiak, A., Montagnani, C., Valentini, P., Rossi, N., Garazzino, S., Raffaldi, I., Di Gangi, M., Esposito, S., Vecchi, B., Melzi, M. L., Lanari, M., Zavarise, G., Bosis, S., Valenzise, M., Cazzato, S., Sacco, M., Govoni, M. R., Mozzo, E. & 10 others, Cambriglia, M. D., Bruzzese, E., Di Camillo, C., Pata, D., Graziosi, A., Sala, D., Magurano, F., Villani, A., Guarino, A. & Galli, L., Jan 12 2019, In : Archives of Disease in Childhood.

Research output: Contribution to journalArticle

Measles
C-Reactive Protein
Genotype
Hospitalized Child
Encephalitis

Comprehensive analysis of how experimental parameters affect H2S measurements by the monobromobimane method

Ditrói, T., Nagy, A., Martinelli, D., Rosta, A., Kožich, V. & Nagy, P., May 20 2019, In : Free Radical Biology and Medicine. 136, p. 146-158 13 p.

Research output: Contribution to journalArticle

Hydrogen Sulfide
Sulfides
Biomolecules
Blood
Plasmas

Conditioned medium of primary lung cancer cells induces EMT in A549 lung cancer cell line by TGF-ß1 and miRNA21 cooperation

Camerlingo, R., Miceli, R., Marra, L., Rea, G., D'Agnano, I., Nardella, M., Montella, R., Morabito, A., Normanno, N., Tirino, V. & Rocco, G., 2019, In : PLoS One. 14, 7, p. e0219597

Research output: Contribution to journalArticle

Epithelial-Mesenchymal Transition
lung neoplasms
Conditioned Culture Medium
MicroRNAs
Lung Neoplasms

Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review

Pelizzo, G., Collura, M., Puglisi, A., Pappalardo, M. P., Agolini, E., Novelli, A., Piccione, M., Cacace, C., Bussani, R., Corsello, G. & Calcaterra, V., Mar 29 2019, In : BMC Pediatrics. 19, 1

Research output: Contribution to journalArticle

Filamins
Lung Diseases
Periventricular Nodular Heterotopia
Lung
Mutation

Consecutive episodes of heart and kidney failure in an "otherwise" healthy young man

Esposito, V., Catucci, D., Colucci, M., Torreggiani, M., Grosjean, F. & Esposito, C., Jun 20 2019, In : BMC Nephrology. 20, 1, 229.

Research output: Contribution to journalArticle

Open Access
Renal Insufficiency
Heart Failure
Sarcoidosis
Kidney
Acute Kidney Injury

Consensus communication strategies to improve doctor-patient relationship in paediatric severe asthma

Paediatric Sound Group, Mar 4 2019, In : Italian Journal of Pediatrics. 45, 1, 1 p.

Research output: Contribution to journalArticle

Consensus
Asthma
Communication
Pediatrics
Parents

Consensus communication strategies to improve doctor-patient relationship in paediatric severe asthma

Group, P. S., Cappuccio, A., Bugliaro, F., Caimmi, S. M. E., Caldarelli, V., Caminiti, L., D'Auria, E., di Palmo, E., Duse, M., Fiocchi, A. G., Gesualdo, F., Kantar, A., Lombardi, E., Lucania, A., Marchiani, M., Marini, M. G., Marseglia, G., Montera, M. C., Novembre, E. M., Pellegrini, G. & 3 others, Piacentini, G., Policreti, A. & Santamaria, F., Mar 4 2019, In : Italian Journal of Pediatrics. 45, 1

Research output: Contribution to journalArticle

Consensus
Asthma
Communication
Pediatrics
Parents

Consensus statements on vaccination in patients with haemophilia—results from the italian haemophilia and vaccinations (Heva) project

HEVA Study Group, Santagostino, E., Riva, A., Cesaro, S., Esposito, S., Matino, D., Mazzucchelli, R. I., Molinari, A. C., Mura, R., Notarangelo, L. D., Tagliaferri, A., Di Minno, G. & Clerici, M., Jan 1 2019, In : Haemophilia. 25, 4, p. 656-667

Research output: Contribution to journalArticle

Open Access
Hemophilia A
Vaccination
Factor VIII
Appointments and Schedules
Vaccines

Consensus statements on vaccination in patients with haemophilia—results from the italian haemophilia and vaccinations (Heva) project

Santagostino, E., Riva, A., Cesaro, S., Esposito, S., Matino, D., Mazzucchelli, R. I., Molinari, A. C., Mura, R., Notarangelo, L. D., Tagliaferri, A., Di Minno, G. & Clerici, M., Jan 1 2019, In : Haemophilia.

Research output: Contribution to journalArticle

Hemophilia A
Vaccination
Factor VIII
Appointments and Schedules
Vaccines

Conservative management of chylous ascites after oncological surgery for peripheral neuroblastic tumors in pediatric patients

Pio, L., Boccardo, F., Avanzini, S., Paraboschi, I., Granata, C., Garaventa, A., Dessalvi, S., Martucciello, G. & Mattioli, G., Jan 1 2019, In : Lymphology. 52, 1, p. 25-34 10 p.

Research output: Contribution to journalArticle

Chylous Ascites
Pediatrics
Neoplasms
Total Parenteral Nutrition
Incidence

Conservative versus surgical treatment of Gartland type 2 supracondylar humeral fractures: What can help us choosing?

Iorio, C., Crostelli, M., Mazza, O., Rota, P., Polito, V. & Perugia, D., Jan 22 2019, In : Journal of Orthopaedics. 16, 1, p. 31-35 5 p.

Research output: Contribution to journalArticle

Humeral Fractures
Elbow
Therapeutics
Infection
Reference Values

Continuous Veno-Venous Hemodialysis Using the Cardio-Renal Pediatric Dialysis Emergency MachineTM: First Clinical Experiences

Vidal, E., Cocchi, E., Paglialonga, F., Ricci, Z., Garzotto, F., Peruzzi, L., Murer, L. & Ronco, C., 2019, In : Blood Purification. 47, 1-3, p. 149-155

Research output: Contribution to journalArticle

Renal Dialysis
Emergencies
Pediatrics
Renal Replacement Therapy
Blood Vessels

Contribution of cryopreservation to the cumulative live birth rate: a large multicentric cycle-based data analysis from the Italian National Registry

Scaravelli, G., Levi-Setti, P. E., Livi, C., La Sala, G., Ubaldi, F. M., Greco, E., Coccia, M. E., Borini, A., Revelli, A., Ricci, G., Vigiliano, V., De Luca, R., Bolli, S., Rienzi, L., Spoletini, R., Drovanti, A., Benini, F., Villani, M. T., Albricci, L., Varricchio, M. T. & 6 others, Basile, V., Cattoli, M., Nizzi, A., Skerk, K., Speziale, L. & Fiaccavento, S., Jan 1 2019, (Accepted/In press) In : Journal of Assisted Reproduction and Genetics.

Research output: Contribution to journalArticle

Open Access
Birth Rate
Cryopreservation
Live Birth
Registries
Oocyte Retrieval

Controversies in drug allergy: Consensus documents from the world experts

Schatz, M., Fiocchi, A., Jensen-Jarolim, E. & Ballas, Z. K., Jan 2019, In : Journal of Allergy and Clinical Immunology. 143, 1, p. 82-83 2 p.

Research output: Contribution to journalArticle

Controversies in Drug Allergy: Consensus Documents From the World Experts

Schatz, M., Fiocchi, A., Jensen-Jarolim, E. & Ballas, Z. K., Jan 2019, In : Journal of Allergy and Clinical Immunology: In Practice. 7, 1, p. 66-67 2 p.

Research output: Contribution to journalArticle

Cooling the skin for assessing small-fibre function

Leone, C., Dufour, A., Di Stefano, G., Fasolino, A., Di Lionardo, A., La Cesa, S., Galosi, E., Valeriani, M., Nolano, M., Cruccu, G. & Truini, A., Apr 10 2019, In : Pain.

Research output: Contribution to journalArticle

Skin
Evoked Potentials
Facial Pain
Neuralgia
Scalp
Preschool Children
Randomized Controlled Trials
Communication
Aptitude
Therapeutics

Copy number variation analysis of twin pairs discordant for cleft lip with or without cleft palate

Scapoli, L., Carinci, F., Palmieri, A., Cura, F., Baj, A., Beltramini, G., Docimo, R. & Martinelli, M., Jan 1 2019, In : International Journal of Immunopathology and Pharmacology. 33, 2058738419855873.

Research output: Contribution to journalArticle

Open Access
Monozygotic Twins
Cleft Lip
Cleft Palate
Single Nucleotide Polymorphism
Genotype

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

van der Sluijs, P. J., Jansen, S., Vergano, S. A., Adachi-Fukuda, M., Alanay, Y., AlKindy, A., Baban, A., Bayat, A., Beck-Wödl, S., Berry, K., Bijlsma, E. K., Bok, L. A., Brouwer, A. F. J., van der Burgt, I., Campeau, P. M., Canham, N., Chrzanowska, K., Chu, Y. W. Y., Chung, B. H. Y., Dahan, K. & 85 others, De Rademaeker, M., Destree, A., Dudding-Byth, T., Earl, R., Elcioglu, N., Elias, E. R., Fagerberg, C., Gardham, A., Gener, B., Gerkes, E. H., Grasshoff, U., van Haeringen, A., Heitink, K. R., Herkert, J. C., den Hollander, N. S., Horn, D., Hunt, D., Kant, S. G., Kato, M., Kayserili, H., Kersseboom, R., Kilic, E., Krajewska-Walasek, M., Lammers, K., Laulund, L. W., Lederer, D., Lees, M., López-González, V., Maas, S., Mancini, G. M. S., Marcelis, C., Martinez, F., Maystadt, I., McGuire, M., McKee, S., Mehta, S., Metcalfe, K., Milunsky, J., Mizuno, S., Moeschler, J. B., Netzer, C., Ockeloen, C. W., Oehl-Jaschkowitz, B., Okamoto, N., Olminkhof, S. N. M., Orellana, C., Pasquier, L., Pottinger, C., Riehmer, V., Robertson, S. P., Roifman, M., Rooryck, C., Ropers, F. G., Rosello, M., Ruivenkamp, C. A. L., Sagiroglu, M. S., Sallevelt, S. C. E. H., Calvo, A. S., Simsek-Kiper, P. O., Soares, G., Solaeche, L., Sonmez, F. M., Splitt, M., Steenbeek, D., Stegmann, A. P. A., Stumpel, C. T. R. M., Tanabe, S., Uctepe, E., Utine, G. E., Veenstra-Knol, H. E., Venkateswaran, S., Vilain, C., Vincent-Delorme, C., Vulto-van Silfhout, A. T., Wheeler, P., Wilson, G. N., Wilson, L. C., Wollnik, B., Kosho, T., Wieczorek, D., Eichler, E., Pfundt, R., de Vries, B. B. A., Clayton-Smith, J. & Santen, G. W. E., Jan 29 2019, In : Genetics in Medicine.

Research output: Contribution to journalArticle

Intellectual Disability
Coffin-Siris syndrome

Correction: Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53

on behalf on the International DMD group, Aug 1 2019, In : PLoS One. 14, 7, p. e0220714

Research output: Contribution to journalArticle

muscular dystrophy
Duchenne Muscular Dystrophy
Natural History
natural history
exons

Correction to: Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia

Zanni, G., De Magistris, P., Nardella, M., Bellacchio, E., Barresi, S., Sferra, A., Ciolfi, A., Motta, M., Lue, H., Moreno-Andres, D., Tartaglia, M., Bertini, E. & Antonin, W., Jun 2019, In : Cerebellum. 18, 3, p. 433-434 2 p.

Research output: Contribution to journalArticle

Nuclear Pore Complex Proteins
Ataxia

Correction to: A PRISMA-compliant systematic review of the endpoints employed to evaluate symptomatic treatments for primary headaches

European Headache Federation School of Advanced Studies (EHF-SAS), Feb 13 2019, In : The journal of headache and pain. 20, 1, p. 14

Research output: Contribution to journalArticle

Names
Headache
Publications
Therapeutics