Research Output

2019

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

Deficient Natural Killer Cell NKp30-Mediated Function and Altered NCR3 Splice Variants in Hepatocellular Carcinoma

Mantovani, S., Oliviero, B., Lombardi, A., Varchetta, S., Mele, D., Sangiovanni, A., Rossi, G., Donadon, M., Torzilli, G., Soldani, C., Porta, C., Pedrazzoli, P., Chiellino, S., Santambrogio, R., Opocher, E., Maestri, M., Bernuzzi, S., Rossello, A., Clément, S., De Vito, C. & 3 others, Rubbia-Brandt, L., Negro, F. & Mondelli, M. U., Jan 1 2019, In : Hepatology.

Research output: Contribution to journalArticle

Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

Staufner, C., Peters, B., Wagner, M., Alameer, S., Barić, I., Broué, P., Bulut, D., Church, J. A., Crushell, E., Dalgıç, B., Das, A. M., Dick, A., Dikow, N., Dionisi-Vici, C., Distelmaier, F., Bozbulut, N. E., Feillet, F., Gonzales, E., Hadzic, N., Hauck, F. & 31 others, Hegarty, R., Hempel, M., Herget, T., Klein, C., Konstantopoulou, V., Kopajtich, R., Kuster, A., Laass, M. W., Lainka, E., Larson-Nath, C., Leibner, A., Lurz, E., Mayr, J. A., McKiernan, P., Mention, K., Moog, U., Mungan, N. O., Riedhammer, K. M., Santer, R., Palafoll, I. V., Vockley, J., Westphal, D. S., Wiedemann, A., Wortmann, S. B., Diwan, G. D., Russell, R. B., Prokisch, H., Garbade, S. F., Kölker, S., Hoffmann, G. F. & Lenz, D., Jan 1 2019, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes

Sinibaldi, L., Parisi, V., Lanciotti, S., Fontana, P., Kuechler, A., Baujat, G., Torres, B., Koetting, J., Splendiani, A., Postorivo, D., Beygo, J., Garaci, F. G., Malan, V., Lüdecke, H-J., Guida, V., Krumbiegel, M., Lonardo, F., Novelli, A., Albrecht, B., Perria, C. & 6 others, Scarano, G., Spielmann, M., Nardone, A. M., Battaglia, A., Brancati, F. & Bernardini, L., 2019, In : Clinical Genetics.

Research output: Contribution to journalArticle

Delineation of MidXq28-Duplication Syndrome Distal to MECP2 and Proximal to RAB39B genes

Sinibaldi, L., Parisi, V., Lanciotti, S., Fontana, P., Kuechler, A., Baujat, G., Torres, B., Koetting, J., Splendiani, A., Postorivo, D., Beygo, J., Garaci, F. G., Malan, V., Hermann-Josef-Lüdecke, Guida, V., Krumbiegel, M., Lonardo, F., Novelli, A., Albrecht, B., Perria, C. & 6 others, Scarano, G., Spielmann, M., Nardone, A., Battaglia, A., Brancati, F. & Bernardini, L., May 15 2019, In : Clinical Genetics.

Research output: Contribution to journalArticle

Dendritic cell recognition by group 3 innate lymphoid cells through DNAX accessory molecule 1 triggers proinflammatory reciprocal cell activation

Campana, S., Di Carlo, E., De Pasquale, C., Barberi, C., Oliveri, D., Migliore, G. S., Cannavò, S. P., Galletti, B., Pende, D., Carrega, P. & Ferlazzo, G., Oct 2019, In : Journal of Allergy and Clinical Immunology. 144, 4, p. 1118-1122.e6

Research output: Contribution to journalArticle

De novo Absence Status Epilepticus in a pediatric cohort: Electroclinical pattern in a multicenter Italian patients cohort

Pepi, C., Cesaroni, E., Striano, P., Maiorani, D., Pruna, D., Cossu, S., Di Capua, M., Vigevano, F., Specchio, N. & Cusmai, R., Dec 2019, In : Seizure. 73, p. 79-82 4 p.

Research output: Contribution to journalArticle

De novo Absence Status Epilepticus in a pediatric cohort: Electroclinical pattern in a multicenter Italian patients cohort

Pepi, C., Cesaroni, E., Striano, P., Maiorani, D., Pruna, D., Cossu, S., Di Capua, M., Vigevano, F., Specchio, N. & Cusmai, R., Dec 1 2019, In : Seizure : the journal of the British Epilepsy Association. 73, p. 79-82 4 p.

Research output: Contribution to journalArticle

De novo malignancies after liver transplantation: The effect of immunosuppression-personal data and review of literature

Manzia, T. M., Angelico, R., Gazia, C., Lenci, I., Milana, M., Ademoyero, O. T., Pedini, D., Toti, L., Spada, M., Tisone, G. & Baiocchi, L., Sep 21 2019, In : World Journal of Gastroenterology. 25, 35, p. 5356-5375 20 p.

Research output: Contribution to journalReview article

Open Access

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

Holt, R. J., Young, R. M., Crespo, B., Ceroni, F., Curry, C. J., Bellacchio, E., Bax, D. A., Ciolfi, A., Simon, M., Fagerberg, C. R., van Binsbergen, E., De Luca, A., Memo, L., Dobyns, W. B., Mohammed, A. A., Clokie, S. J. H., Zazo Seco, C., Jiang, Y. H., Sørensen, K. P., Andersen, H. & 14 others, Sullivan, J., Powis, Z., Chassevent, A., Smith-Hicks, C., Petrovski, S., Antoniadi, T., Shashi, V., Gelb, B. D., Wilson, S. W., Gerrelli, D., Tartaglia, M., Chassaing, N., Calvas, P. & Ragge, N. K., Sep 5 2019, In : American Journal of Human Genetics. 105, 3, p. 640-657 18 p.

Research output: Contribution to journalArticle

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

Holt, R. J., Young, R. M., Crespo, B., Ceroni, F., Curry, C. J., Bellacchio, E., Bax, D. A., Ciolfi, A., Simon, M., Fagerberg, C. R., van Binsbergen, E., De Luca, A., Memo, L., Dobyns, W. B., Mohammed, A. A., Clokie, S. J. H., Zazo Seco, C., Jiang, Y. H., Sørensen, K. P., Andersen, H. & 14 others, Sullivan, J., Powis, Z., Chassevent, A., Smith-Hicks, C., Petrovski, S., Antoniadi, T., Shashi, V., Gelb, B. D., Wilson, S. W., Gerrelli, D., Tartaglia, M., Chassaing, N., Calvas, P. & Ragge, N. K., Sep 5 2019, In : American Journal of Human Genetics. 105, 3, p. 640-657 18 p.

Research output: Contribution to journalArticle

Open Access

Design, synthesis and antimycobacterial activity of benzoxazinone derivatives and open-ring analogues: Preliminary data and computational analysis

Zampieri, D., Mamolo, M. G., Filingeri, J., Fortuna, S., De Logu, A., Sanna, A. & Zanon, D., Sep 1 2019, In : Bioorganic and Medicinal Chemistry Letters. 29, 17, p. 2468-2474 7 p.

Research output: Contribution to journalArticle

Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification

Giorgio, E., Garelli, E., Carando, A., Bellora, S., Rubino, E., Quarello, P., Sirchia, F., Marrama, F., Gallone, S., Grosso, E., Pasini, B., Massa, R., Brussino, A. & Brusco, A., Nov 1 2019, In : Journal of Human Genetics. 64, 11, p. 1083-1090 8 p.

Research output: Contribution to journalArticle

Detection of iron deficiency in children with Down syndrome

Hart, S. J., Zimmerman, K., Linardic, C. M., Cannon, S., Pastore, A., Patsiogiannis, V., Rossi, P., Santoro, S. L., Skotko, B. G., Torres, A., Valentini, D., Vellody, K., Worley, G. & Kishnani, P. S., Aug 16 2019, In : Genetics in Medicine.

Research output: Contribution to journalArticle

Detection of the Strains Induced in Murine Tibias by Ex Vivo Uniaxial Loading with Different Sensors

Rizzuto, E., Peruzzi, B., Giudice, M., Urciuoli, E., Pittella, E., Piuzzi, E., Musarò, A. & Del Prete, Z., Nov 22 2019, In : Sensors (Basel, Switzerland). 19, 23

Research output: Contribution to journalArticle

Determination of pentraxin 3 levels in cerebrospinal fluid during central nervous system infections

Zatta, M., Di Bella, S., Bottazzi, B., Rossi, F., D'Agaro, P., Segat, L., Fabbiani, M., Mantovani, A. & Luzzati, R., Dec 8 2019, In : European Journal of Clinical Microbiology and Infectious Diseases.

Research output: Contribution to journalArticle

Determination of pentraxin 3 levels in cerebrospinal fluid during central nervous system infections

Zatta, M., Di Bella, S., Bottazzi, B., Rossi, F., D’Agaro, P., Segat, L., Fabbiani, M., Mantovani, A. & Luzzati, R., Jan 1 2019, (Accepted/In press) In : European Journal of Clinical Microbiology and Infectious Diseases.

Research output: Contribution to journalArticle

Determination of Serum Infliximab Concentration by Point-of-care Devices in Children with Inflammatory Bowel Disease

Curci, D., Lucafò, M., Cifù, A., Bramuzzo, M., Martelossi, S., Favretto, D., De Pellegrin, F., Fabris, M., Vascotto, F., Naviglio, S., Ventura, A., Stocco, G. & Decorti, G., Oct 1 2019, In : Journal of Pediatric Gastroenterology and Nutrition. 69, 4, p. 474-479 6 p.

Research output: Contribution to journalArticle

Development and initial validation of a questionnaire to assess patients' perception of protective isolation following haematopoietic stem cell transplantation

Biagioli, V., Piredda, M., Annibali, O., Tirindelli, M. C., Pignatelli, A., Marchesi, F., Mauroni, M. R., Soave, S., Del Giudice, E., Ponticelli, E., Clari, M., Cavallero, S., Monni, P., Ottani, L., Sica, S., Cioce, M., Cappucciati, L., Bonifazi, F., Alvaro, R., De Marinis, M. G. & 1 others, Gargiulo, G., Mar 2019, In : European Journal of Cancer Care. 28, 2, p. e12955

Research output: Contribution to journalArticle

Development and initial validation of the MS score for diagnosis of macrophage activation syndrome in systemic juvenile idiopathic arthritis

Pediatric Rheumatology international Trials Organization, the Childhood arthritis &Rheumatology Research alliance, the Pediatric Rheumatology Collaborative study Group and the Histiocyte society, Minoia, F., Bovis, F., Davì, S., Horne, A. C., Fischbach, M., Frosch, M., Huber, A., Jelusic, M., Sawhney, S., McCurdy, D. K., Silva, C. A., Rigante, D., Unsal, E., Ruperto, N., Martini, A., Cron, R. Q. & Ravelli, A., Jan 1 2019, In : Annals of the Rheumatic Diseases. 78, 10, p. 1357-1362 6 p.

Research output: Contribution to journalArticle

Development and initial validation of the MS score for diagnosis of macrophage activation syndrome in systemic juvenile idiopathic arthritis

Minoia, F., Bovis, F., Davì, S., Horne, A., Fischbach, M., Frosch, M., Huber, A., Jelusic, M., Sawhney, S., McCurdy, D. K., Silva, C. A., Rigante, D., Unsal, E., Ruperto, N., Martini, A., Cron, R. Q., Ravelli, A. & Pediatric Rheumatology international Trials Organization the Childhood arthritis &Rheumatology Research alliance, T. P. R. C. S. G. A. T. H. S., 2019, In : Annals of the Rheumatic Diseases. 78, 10, p. 1357-1362 6 p.

Research output: Contribution to journalArticle

Development and validation of a composite disease activity score for measurement of muscle and skin involvement in juvenile dermatomyositis

the Pediatric Rheumatology International Trials Organization (PRINTO), Jul 1 2019, In : Rheumatology (United Kingdom). 58, 7, p. 1196-1205 10 p.

Research output: Contribution to journalArticle

Development and validation of a composite disease activity score for measurement of muscle and skin involvement in juvenile dermatomyositis

Rosina, S., Consolaro, A., Van Dijkhuizen, P., Pistorio, A., Varnier, G. C., Bovis, F., Nistala, K., Maillard, S., Civino, A., Tsitsami, E., De Inocencio, J., Jelusic, M., Vojinovic, J., Espada, G., Makay, B., Katsicas, M. M., Pratsidou-Gertsi, P., Lazarevic, D., Rao, A. P., Pires Marafon, D. & 5 others, Martini, A., Pilkington, C., Ruperto, N., Ravelli, A. & (PRINTO), T. P. R. I. T. O., 2019, In : Rheumatology (United Kingdom). 58, 7, p. 1196-1205 10 p.

Research output: Contribution to journalArticle

Development and validation of LC-MS/MS method for imatinib and norimatinib monitoring by finger-prick DBS in gastrointestinal stromal tumor patients

Iacuzzi, V., Posocco, B., Zanchetta, M., Montico, M., Marangon, E., Poetto, A. S., Buzzo, M., Gagno, S., Buonadonna, A., Guardascione, M., Casetta, B. & Toffoli, G., Jan 1 2019, In : PLoS One. 14, 11, 18 p., e0225225.

Research output: Contribution to journalArticle

Open Access

Development of adaptive immune effector therapies in solid tumors: Annals of oncology : official journal of the European Society for Medical Oncology

Comoli, P., Chabannon, C., Koehl, U., Lanza, F., Urbano-Ispizua, A., Hudecek, M., Ruggeri, A., Secondino, S., Bonini, C. & Pedrazzoli, P., 2019, In : Ann. Oncol.. 30, 11, p. 1740-1750 11 p.

Research output: Contribution to journalArticle

Development of adaptive immune effector therapies in solid tumors: Annals of oncology : official journal of the European Society for Medical Oncology

Comoli, P., Chabannon, C., Koehl, U., Lanza, F., Urbano-Ispizua, A., Hudecek, M., Ruggeri, A., Secondino, S., Bonini, C. & Pedrazzoli, P., 2019, In : Ann. Oncol.. 30, 11, p. 1740-1750 11 p.

Research output: Contribution to journalArticle

Development of adaptive immune effector therapies in solid tumors

Comoli, P., Chabannon, C., Koehl, U., Lanza, F., Urbano-Ispizua, A., Hudecek, M., Ruggeri, A., Secondino, S., Bonini, C. & Pedrazzoli, P., Aug 21 2019, In : Annals of oncology : official journal of the European Society for Medical Oncology.

Research output: Contribution to journalArticle

Development of a Dynamic Oriented Rehabilitative Integrated System (DORIS) and Preliminary Tests

Summa, S., Gori, R., Freda, L., Castelli, E. & Petrarca, M., Aug 2 2019, In : Sensors (Basel, Switzerland). 19, 15

Research output: Contribution to journalArticle