Research Output

2019

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 : Ital. J. Pediatr.. 45, 1

Research output: Contribution to journalArticle

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

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., Apr 1 2019, In : Haemophilia.

Research output: Contribution to journalArticle

Consensus statements on vaccination in patients with haemophilia—Results from the Italian haemophilia and vaccinations (HEVA) project

HEVA project, 2019, In : Haemophilia. 25, 4, p. 656-667 12 p.

Research output: Contribution to journalArticle

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., 2019, In : Lymphology. 52, 1, p. 25-34 10 p.

Research output: Contribution to journalArticle

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

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

Constitutive Inactivation of the PRRT2 Gene Alters Short-Term Synaptic Plasticity and Promotes Network Hyperexcitability in Hippocampal Neurons

Valente, P., Romei, A., Fadda, M., Sterlini, B., Lonardoni, D., Forte, N., Fruscione, F., Castroflorio, E., Michetti, C., Giansante, G., Valtorta, F., Tsai, J-W., Zara, F., Nieus, T., Corradi, A., Fassio, A., Baldelli, P. & Benfenati, F., May 1 2019, In : Cerebral cortex (New York, N.Y. : 1991). 29, 5, p. 2010-2033 24 p.

Research output: Contribution to journalArticle

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

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

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. & NBCS Collaborators, C., Nov 2019, In : Journal of Assisted Reproduction and Genetics. 36, 11, p. 2287-2295 9 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. 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., 2019, In : Pain. 160, 9, p. 1967-1975 9 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

Copy number variants in autism spectrum disorders

Vicari, S., Napoli, E., Cordeddu, V., Menghini, D., Alesi, V., Loddo, S., Novelli, A. & Tartaglia, M., Feb 20 2019, In : Progress in Neuro-Psychopharmacology and Biological Psychiatry. 92, p. 421-427 7 p.

Research output: Contribution to journalReview article

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

Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease

Lantieri, F., Gimelli, S., Viaggi, C., Stathaki, E., Malacarne, M., Santamaria, G., Grossi, A., Mosconi, M., Sloan-Béna, F., Prato, A. P., Coviello, D. & Ceccherini, I., Nov 25 2019, In : Orphanet Journal of Rare Diseases. 14, 1, p. 270

Research output: Contribution to journalArticle

Cord blood sampling in preventing anemia in extremely preterm infants

Paganin, P., Galdo, F., Bibalo, C. & Risso, F. M., Nov 2019, In : Journal of Pediatrics. 214, 1 p.

Research output: Contribution to journalLetter

Open Access

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

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

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

Correction to: One hour post-load plasma glucose and 3 year risk of worsening fasting and 2 hour glucose tolerance in the RISC cohort

EGIR-RISC study group, May 2019, In : Diabetologia. 62, 5, p. 874

Research output: Contribution to journalArticle

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

Correlating Cystic Fibrosis Transmembrane Conductance Regulator Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis

McCague, A. F., Raraigh, K. S., Pellicore, M. J., Davis-Marcisak, E. F., Evans, T. A., Han, S. T., Lu, Z., Joynt, A. T., Sharma, N., Castellani, C., Collaco, J. M., Corey, M., Lewis, M. H., Penland, C. M., Rommens, J. M., Stephenson, A. L., Sosnay, P. R. & Cutting, G. R., May 1 2019, In : American Journal of Respiratory and Critical Care Medicine. 199, 9, p. 1116-1126 11 p.

Research output: Contribution to journalArticle

Corrigendum: Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies

Cifaldi, C., Brigida, I., Barzaghi, F., Zoccolillo, M., Ferradini, V., Petricone, D., Cicalese, M. P., Lazarevic, D., Cittaro, D., Omrani, M., Attardi, E., Conti, F., Scarselli, A., Chiriaco, M., Di Cesare, S., Licciardi, F., Davide, M., Ferrua, F., Canessa, C., Pignata, C. & 20 others, Giliani, S., Ferrari, S., Fousteri, G., Barera, G., Merli, P., Palma, P., Cesaro, S., Gattorno, M., Trizzino, A., Moschese, V., Chini, L., Villa, A., Azzari, C., Finocchi, A., Locatelli, F., Rossi, P., Sangiuolo, F., Aiuti, A., Cancrini, C. & Di Matteo, G., 2019, In : Frontiers in Immunology. 10, p. 1184

Research output: Contribution to journalArticle

Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism-array analysis

Bottega, R., Cappellani, S., Fabretto, A., Spinelli, A. M., Severini, G. M., Aloisio, M., Faleschini, M., Athanasakis, E., Bruno, I., Faletra, F. & Pecile, V., Mar 2019, In : Molecular Genetics and Genomic Medicine. 7, 3, e546.

Research output: Contribution to journalLetter

Open Access

Counter-regulation of regulatory T cells by autoreactive CD8+ T cells in rheumatoid arthritis

Cammarata, I., Martire, C., Citro, A., Raimondo, D., Fruci, D., Melaiu, O., D'Oria, V., Carone, C., Peruzzi, G., Cerboni, C., Santoni, A., Sidney, J., Sette, A., Paroli, M., Caccavale, R., Milanetti, E., Riminucci, M., Timperi, E., Piconese, S., Manzo, A. & 5 others, Montecucco, C., Scrivo, R., Valesini, G., Cariani, E. & Barnaba, V., May 2019, In : Journal of Autoimmunity. 99, p. 81-97 17 p.

Research output: Contribution to journalArticle

Counter-regulation of regulatory T cells by autoreactive CD8 + T cells in rheumatoid arthritis

Cammarata, I., Martire, C., Citro, A., Raimondo, D., Fruci, D., Melaiu, O., D'Oria, V., Carone, C., Peruzzi, G., Cerboni, C., Santoni, A., Sidney, J., Sette, A., Paroli, M., Caccavale, R., Milanetti, E., Riminucci, M., Timperi, E., Piconese, S., Manzo, A. & 5 others, Montecucco, C., Scrivo, R., Valesini, G., Cariani, E. & Barnaba, V., Jan 1 2019, In : Journal of Autoimmunity.

Research output: Contribution to journalArticle

Current Controversies in Prenatal Diagnosis 1: Should MRI be performed on all fetuses with mild ventriculomegaly?

Prayer, D., Paladini, D. & Deprest, J., Apr 2019, In : Prenatal Diagnosis. 39, 5, p. 331-338 8 p.

Research output: Contribution to journalArticle

Current practices for the genetic diagnosis of autoinflammatory diseases: results of a European Molecular Genetics Quality Network Survey

Rowczenio, D., Shinar, Y., Ceccherini, I., Sheils, K., Van Gijn, M., Patton, S. J. & Touitou, I., Oct 2019, In : European Journal of Human Genetics. 27, 10, p. 1502-1508 7 p.

Research output: Contribution to journalArticle

Cystic Fibrosis Diagnosis in Newborns, Children, and Adults

Castellani, C., Linnane, B., Pranke, I., Cresta, F., Sermet-Gaudelus, I. & Peckham, D., Dec 2019, In : Seminars in Respiratory and Critical Care Medicine. 40, 6, p. 701-714 14 p.

Research output: Contribution to journalArticle

Daily Consumption of Orange Juice from Citrus sinensis L. Osbeck cv. Cara Cara and cv. Bahia Differently Affects Gut Microbiota Profiling as Unveiled by an Integrated Meta-Omics Approach

Brasili, E., Hassimotto, N. M. A., Del Chierico, F., Marini, F., Quagliariello, A., Sciubba, F., Miccheli, A., Putignani, L. & Lajolo, F., Feb 6 2019, In : Journal of Agricultural and Food Chemistry. 67, 5, p. 1381-1391 11 p.

Research output: Contribution to journalArticle

Death after hematopoietic stem cell transplantation: changes over calendar year time, infections and associated factors

for the Infectious Diseases Working Party EBMT, Jan 1 2019, (Accepted/In press) In : Bone Marrow Transplantation.

Research output: Contribution to journalArticle

Decidual Interleukin-22-Producing CD4+ T Cells (Th17/Th0/IL-22+ and Th17/Th2/IL-22+, Th2/IL-22+, Th0/IL-22+), Which Also Produce IL-4, Are Involved in the Success of Pregnancy

Logiodice, F., Lombardelli, L., Kullolli, O., Haller, H., Maggi, E., Rukavina, D. & Piccinni, M-P., Jan 19 2019, In : International Journal of Molecular Sciences. 20, 2

Research output: Contribution to journalArticle

DEFB1 polymorphisms and HIV-1 mother-to-child transmission in zambian population

Zupin, L., Polesello, V., Segat, L., Kamada, A. J., Kuhn, L. & Crovella, S., 2019, In : Journal of Maternal-Fetal and Neonatal Medicine. 32, 17, p. 2805-2811 7 p.

Research output: Contribution to journalArticle

Deficiency and haploinsufficiency of histone macroH2A1.1 in mice recapitulate hematopoietic defects of human myelodysplastic syndrome

Bereshchenko, O., Lo Re, O., Nikulenkov, F., Flamini, S., Kotaskova, J., Mazza, T., Le Pannérer, M. M., Buschbeck, M., Giallongo, C., Palumbo, G., Li Volti, G., Pazienza, V., Cervinek, L., Riccardi, C., Krejci, L., Pospisilova, S., Stewart, A. F. & Vinciguerra, M., Aug 22 2019, In : Clinical Epigenetics. 11, 1, 121.

Research output: Contribution to journalArticle