Research Output

2019

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency

Volpi, S., Cicalese, M. P., Tuijnenburg, P., Tool, A. T. J., Cuadrado, E., Abu-Halaweh, M., Ahanchian, H., Alzyoud, R., Akdemir, Z. C., Barzaghi, F., Blank, A., Boisson, B., Bottino, C., Brigida, I., Caorsi, R., Casanova, J-L., Chiesa, S., Chinn, I. K., Dückers, G., Enders, A. & 32 others, Erichsen, H. C., Forbes, L. R., Gambin, T., Gattorno, M., Karimiani, E. G., Giliani, S., Gold, M. S., Jacobsen, E-M., Jansen, M. H., King, J. R., Laxer, R. M., Lupski, J. R., Mace, E., Marcenaro, S., Maroofian, R., Meijer, A. B., Niehues, T., Notarangelo, L. D., Orange, J., Pannicke, U., Pearson, C., Picco, P., Quinn, P. J., Schulz, A., Seeborg, F., Stray-Pedersen, A., Tawamie, H., van Leeuwen, E. M. M., Aiuti, A., Yeung, R., Schwarz, K. & Kuijpers, T. W., Jun 2019, In : Journal of Allergy and Clinical Immunology. 143, 6, p. 2296-2299 4 p.

Research output: Contribution to journalArticle

A consensus conference report on defining the eligibility criteria for pediatric palliative care in Italy

Jankovic, M., De Zen, L., Pellegatta, F., Lazzarin, P., Bertolotti, M., Manfredini, L., Aprea, A., Memo, L., Del Vecchio, A., Agostiniani, R. & Benini, F., Jul 22 2019, In : Ital. J. Pediatr.. 45, 1, p. 89

Research output: Contribution to journalArticle

Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy

Motta, M., Sagi-Dain, L., Krumbach, O. H. F., Hahn, A., Peleg, A., German, A., Lissewski, C., Coppola, S., Pantaleoni, F., Kocherscheid, L., Altmüller, F., Schanze, D., Logeswaran, T., Chahrokh-Zadeh, S., Munzig, A., Nakhaei-Rad, S., Cavé, H., Ahmadian, M. R., Tartaglia, M. & Zenker, M., May 21 2019, In : Human Molecular Genetics.

Research output: Contribution to journalArticle

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

Capri, Y., Flex, E., Krumbach, O. H. F., Carpentieri, G., Cecchetti, S., Lißewski, C., Rezaei Adariani, S., Schanze, D., Brinkmann, J., Piard, J., Pantaleoni, F., Lepri, F. R., Goh, E. S-Y., Chong, K., Stieglitz, E., Meyer, J., Kuechler, A., Bramswig, N. C., Sacharow, S., Strullu, M. & 13 others, Vial, Y., Vignal, C., Kensah, G., Cuturilo, G., Kazemein Jasemi, N. S., Dvorsky, R., Monaghan, K. G., Vincent, L. M., Cavé, H., Verloes, A., Ahmadian, M. R., Tartaglia, M. & Zenker, M., Jun 6 2019, In : American Journal of Human Genetics. 104, 6, p. 1223-1232 10 p.

Research output: Contribution to journalArticle

Actively targeted nanocarriers for drug delivery to cancer cells

Biffi, S., Voltan, R., Bortot, B., Zauli, G. & Secchiero, P., May 4 2019, In : Expert Opinion on Drug Delivery. 16, 5, p. 481-496 16 p.

Research output: Contribution to journalReview article

ACUsmart Continuous Renal Replacement Therapy Platform: Multicenter Pilot Study for Technical and Clinical Assessment (A.M.P. Study)

Neri, M., Lorenzin, A., de Cal, M., Brendolan, A., Marchionna, N., Samoni, S., Zanella, M., De Rosa, S., Martino, F., Ricci, Z., Maynar, J., Auzinger, G., Villa, G., Payen, D., Joannidis, M. & Ronco, C., Feb 1 2019, In : Blood Purification. p. 1-7 7 p.

Research output: Contribution to journalArticle

Acute ataxia in paediatric emergency departments: A multicentre Italian study

Garone, G., Reale, A., Vanacore, N., Parisi, P., Bondone, C., Suppiej, A., Brisca, G., Calistri, L., Cordelli, D. M., Savasta, S., Grosso, S., Midulla, F., Falsaperla, R., Verrotti, A., Bozzola, E., Vassia, C., Da Dalt, L., Maggiore, R., Masi, S., Maltoni, L. & 9 others, Foiadelli, T., Rossetti, A., Greco, C., Marino, S., Di Paolantonio, C., Papetti, L., Urbino, A. F., Rossi, R. & Raucci, U., Jan 1 2019, In : Archives of Disease in Childhood.

Research output: Contribution to journalArticle

Acute ataxia in paediatric emergency departments: a multicentre Italian study

Garone, G., Reale, A., Vanacore, N., Parisi, P., Bondone, C., Suppiej, A., Brisca, G., Calistri, L., Cordelli, D. M., Savasta, S., Grosso, S., Midulla, F., Falsaperla, R., Verrotti, A., Bozzola, E., Vassia, C., Da Dalt, L., Maggiore, R., Masi, S., Maltoni, L. & 9 others, Foiadelli, T., Rossetti, A., Greco, C., Marino, S., Di Paolantonio, C., Papetti, L., Urbino, A. F., Rossi, R. & Raucci, U., Apr 4 2019, In : Archives of Disease in Childhood.

Research output: Contribution to journalArticle

Acute ataxia in paediatric emergency departments: A multicentre Italian study

Garone, G., Reale, A., Vanacore, N., Parisi, P., Bondone, C., Suppiej, A., Brisca, G., Calistri, L., Cordelli, D. M., Savasta, S., Grosso, S., Midulla, F., Falsaperla, R., Verrotti, A., Bozzola, E., Vassia, C., Da Dalt, L., Maggiore, R., Masi, S., Maltoni, L. & 9 others, Foiadelli, T., Rossetti, A., Greco, C., Marino, S., Di Paolantonio, C., Papetti, L., Urbino, A. F., Rossi, R. & Raucci, U., 2019, In : Archives of Disease in Childhood. 104, 8, p. 768-774 7 p.

Research output: Contribution to journalArticle

Acute bilateral eyelid swelling in a 5-year-old child

Romano, S., Taddio, A., Maschio, M., Barbi, E. & Parentin, F., Jan 1 2019, (Accepted/In press) In : Archives of Disease in Childhood: Education and Practice Edition.

Research output: Contribution to journalComment/debate

Acute dialysis in children: results of a European survey

ESCAPE Network, Apr 4 2019, In : Journal of Nephrology.

Research output: Contribution to journalArticle

Acute dialysis in children: results of a European survey

Guzzo, I., de Galasso, L., Mir, S., Bulut, I. K., Jankauskiene, A., Burokiene, V., Cvetkovic, M., Kostic, M., Bayazit, A. K., Yildizdas, D., Schmitt, C. P., Paglialonga, F., Montini, G., Yilmaz, E., Oh, J., Weber, L., Taylan, C., Hayes, W., Shroff, R., Vidal, E. & 9 others, Murer, L., Mencarelli, F., Pasini, A., Teixeira, A., Afonso, A. C., Drozdz, D., Schaefer, F., Picca, S. & Network, F. T. ESCAPE., 2019, In : Journal of Nephrology. 32, 3, p. 445-451

Research output: Contribution to journalArticle

Acute generalized exanthematous pustulosis associated with Epstein-Barr virus infection reactivation

Giancristoforo, S., Diociaiuti, A., Menis, D., Rota, C., Russo, C., Coltella, L., Paradisi, M. & El Hachem, M., Feb 1 2019, In : Giornale Italiano di Dermatologia e Venereologia. 154, 1, p. 91-92 2 p.

Research output: Contribution to journalLetter

Acute HEV hepatitis: Clinical and laboratory diagnosis

Marrone, G., Biolato, M., Mercurio, G., Capobianchi, M. R., Garbuglia, A. R., Liguori, A., Vassallo, G., Gasbarrini, A., Miele, L. & Grieco, A., Jan 1 2019, In : European Review for Medical and Pharmacological Sciences. 23, 2, p. 764-770 7 p.

Research output: Contribution to journalArticle

Acute kidney injury: to dialyse or to filter?

Ricci, Z., Romagnoli, S. & Ronco, C., Feb 18 2019, In : Nephrology Dialysis Transplantation.

Research output: Contribution to journalArticle

Acute pain management in children: A survey of Italian pediatricians

Marseglia, G. L., Alessio, M., Da Dalt, L., Giuliano, M., Ravelli, A. & Marchisio, P., Dec 3 2019, In : Italian Journal of Pediatrics. 45, 1, 156.

Research output: Contribution to journalArticle

Open Access

Acute pain management in children: A survey of Italian pediatricians

Marseglia, G. L., Alessio, M., Da Dalt, L., Giuliano, M., Ravelli, A. & Marchisio, P., 2019, In : Italian Journal of Pediatrics. 45, 1

Research output: Contribution to journalArticle

Acute pancreatitis in children on chronic maintenance dialysis

Italian Registry of Pediatric Chronic Dialysis, Sep 2019, In : Pediatric Nephrology. 34, 9, p. 1501-1512 12 p.

Research output: Contribution to journalArticle

A cystic fibrosis child with lung function decline

Fiscarelli, E. V., Ricciotti, G., Rossitto, M., Pompilio, A., Tuccio Guarna Assanti, V. & Lucidi, V., Jul 9 2019, In : Journal of Cystic Fibrosis.

Research output: Contribution to journalArticle

ADA2 deficiency due to a novel structural variation in 22q11.1

Grossi, A., Cusano, R., Rusmini, M., Penco, F., Schena, F., Podda, R. A., Caorsi, R., Gattorno, M., Uva, P. & Ceccherini, I., Jun 2019, In : Clinical Genetics. 95, 6, p. 732-733 2 p.

Research output: Contribution to journalArticle

Added value of arterial spin labeling magnetic resonance imaging in pediatric neuroradiology: pitfalls and applications

Keil, V. C., Hartkamp, N. S., Connolly, D. J. A., Morana, G., Dremmen, M. H. G., Mutsaerts, H. J. M. M. & Lequin, M. H., Feb 2019, In : Pediatric Radiology. 49, 2, p. 245-253 9 p.

Research output: Contribution to journalReview article

Open Access

Add-on peginterferon alfa-2a to nucleos(t)ide analogue therapy for Caucasian patients with hepatitis B ‘e’ antigen-negative chronic hepatitis B genotype D

The HERMES Study Group, Lampertico, P., Brunetto, M. R., Craxì, A., Gaeta, G. B., Rizzetto, M., Rozzi, A. & Colombo, M., 2019, In : Journal of Viral Hepatitis. 26, 1, p. 118-125

Research output: Contribution to journalArticle

Addressing gaps in care of people with conditions affecting sex development and maturation

Hiort, O., Cools, M., Springer, A., McElreavey, K., Greenfield, A., Wudy, S. A., Kulle, A., Ahmed, S. F., Dessens, A., Balsamo, A., Maghnie, M., Bonomi, M., Dattani, M., Persani, L., Audi, L. & (Endo-ERN), O. B. O. COST. A. DSD. A. GH. N. A. W. A. T. E. R. N. F. R. E. C., 2019, In : Nature Reviews Endocrinology. 15, 10, p. 615-622 8 p.

Research output: Contribution to journalArticle

Addressing gaps in care of people with conditions affecting sex development and maturation

on behalf of COST Actions DSDnet and GnRH Network as well as the European Reference Network for Rare Endocrine Conditions (Endo–ERN), Oct 1 2019, In : Nature Reviews Endocrinology. 15, 10, p. 615-622 8 p.

Research output: Contribution to journalArticle

A Delphi consensus statement of the Neuropathic Pain Special Interest Group of the Italian Neurological Society on pharmacoresistant neuropathic pain

Neuropathic Pain Special Interest Group of the Italian Neurological Society, Apr 2 2019, In : Neurological Sciences.

Research output: Contribution to journalArticle

A Delphi consensus statement of the Neuropathic Pain Special Interest Group of the Italian Neurological Society on pharmacoresistant neuropathic pain

Ciaramitaro, P., Cruccu, G., de Tommaso, M., Devigili, G., Fornasari, D., Geppetti, P., Lacerenza, M., Lauria, G., Mameli, S., Marchettini, P., Nolano, M., Polati, E., Provitera, V., Romano, M., Solaro, C., Tamburin, S., Tugnoli, V., Valeriani, M., Truini, A. & Society, O. B. O. T. N. P. S. I. G. O. T. I. N., 2019, In : Neurological Sciences. p. 1425-1431 7 p.

Research output: Contribution to journalArticle

Adherence to recommendations and clinical outcomes of patients hospitalized for stroke: the role of the admission ward—a real-life investigation from Italy

Rea, F., Micieli, G., Musicco, M., Cavallini, A., Santucci, C., Merlino, L., Ieva, F., Ferrarese, C. & Corrao, G., 2019, In : Neurological Sciences. 40, 7, p. 1433-42 10 p.

Research output: Contribution to journalArticle

Administering analgesia sublingually is a suitable option for children with acute abdominal pain in the emergency department

Cozzi, G., Zanchi, C., Chiaretti, A., Tipo, V., Cernich, M., D'Anna, C., Fantacci, C., Conversano, E., Zanon, D., Ronfani, L. & Barbi, E., Jan 1 2019, In : Acta Paediatrica, International Journal of Paediatrics. 108, 1, p. 143-148 6 p.

Research output: Contribution to journalArticle

Adolescents with chronic disease and social media: A cross-sectional study

De Nardi, L., Trombetta, A., Ghirardo, S., Genovese, M. R. L., Barbi, E. & Taucar, V., Jan 1 2019, (Accepted/In press) In : Archives of Disease in Childhood. archdischild-2019-317996.

Research output: Contribution to journalArticle

Adults are not big children

Fiocchi, A. & Ebisawa, M., Mar 15 2019, In : Current Opinion in Allergy and Clinical Immunology.

Research output: Contribution to journalArticle

Advanced microscopy analysis of the micro-nanoscale architecture of human menisci

Vetri, V., Dragnevski, K., Tkaczyk, M., Zingales, M., Marchiori, G., Lopomo, N. F., Zaffagnini, S., Bondi, A., Kennedy, J. A., Murray, D. W. & Barrera, O., Dec 10 2019, In : Scientific Reports. 9, 1, p. 1-13 13 p.

Research output: Contribution to journalArticle

Advanced MR imaging and 18F-DOPA PET characteristics of H3K27M-mutant and wild-type pediatric diffuse midline gliomas

Piccardo, A., Tortora, D., Mascelli, S., Severino, M., Piatelli, G., Consales, A., Pescetto, M., Biassoni, V., Schiavello, E., Massollo, M., Verrico, A., Milanaccio, C., Garrè, M. L., Rossi, A. & Morana, G., 2019, In : European Journal of Nuclear Medicine and Molecular Imaging. 46, 8, p. 1685-1694 10 p.

Research output: Contribution to journalArticle

Advanced MR imaging and 18F-DOPA PET characteristics of H3K27M-mutant and wild-type pediatric diffuse midline gliomas

Piccardo, A., Tortora, D., Mascelli, S., Severino, M., Piatelli, G., Consales, A., Pescetto, M., Biassoni, V., Schiavello, E., Massollo, M., Verrico, A., Milanaccio, C., Garrè, M. L., Rossi, A. & Morana, G., Jul 1 2019, In : European Journal of Nuclear Medicine and Molecular Imaging. 46, 8, p. 1685-1694 10 p.

Research output: Contribution to journalArticle

A fascinating rheumatologic association

Tamaro, G., Pastore, S., Gortani, G., Gregori, M. & Taddio, A., Dec 3 2019, In : Rheumatology (Oxford, England). p. kez560

Research output: Contribution to journalArticle

A fast and general method to empirically estimate the complexity of brain responses to transcranial and intracranial stimulations

Comolatti, R., Pigorini, A., Casarotto, S., Fecchio, M., Faria, G., Sarasso, S., Rosanova, M., Gosseries, O., Boly, M., Bodart, O., Ledoux, D., Brichant, J-F., Nobili, L., Laureys, S., Tononi, G., Massimini, M. & Casali, A. G., May 28 2019, In : Brain Stimulation. 12, 5, p. 1280-1289 10 p.

Research output: Contribution to journalArticle

A functional idiotype/anti-idiotype network is active in genetically gluten-intolerant individuals negative for both celiac disease–related intestinal damage and serum autoantibodies

Quaglia, S., Ferrara, F., De Leo, L., Ziberna, F., Vatta, S., Marchiò, S., Sblattero, D., Ventura, A. & Not, T., 2019, In : Journal of Immunology. 202, 4, p. 1079-1087 9 p.

Research output: Contribution to journalArticle

Age at Menarche and Menstrual Abnormalities in Adolescence: Does it Matter? The Evidence from a Large Survey among Italian Secondary Schoolgirls

De Sanctis, V., Rigon, F., Bernasconi, S., Bianchin, L., Bona, G., Bozzola, M., Buzi, F., De Sanctis, C., Tonini, G., Radetti, G. & Perissinotto, E., Jan 1 2019, (Accepted/In press) In : Indian Journal of Pediatrics.

Research output: Contribution to journalArticle

Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2

De Mori, R., Severino, M., Mancardi, M. M., Anello, D., Tardivo, S., Biagini, T., Capra, V., Casella, A., Cereda, C., Copeland, B. R., Gagliardi, S., Gamucci, A., Ginevrino, M., Illi, B., Lorefice, E., Musaev, D., Stanley, V., Micalizzi, A., Gleeson, J. G., Mazza, T. & 2 others, Rossi, A. & Valente, E. M., 2019, In : Brain : a journal of neurology. 142 , (10), p. 2965-78 14 p.

Research output: Contribution to journalArticle

Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2

De Mori, R., Severino, M., Mancardi, M. M., Anello, D., Tardivo, S., Biagini, T., Capra, V., Casella, A., Cereda, C., Copeland, B. R., Gagliardi, S., Gamucci, A., Ginevrino, M., Illi, B., Lorefice, E., Musaev, D., Stanley, V., Micalizzi, A., Gleeson, J. G., Mazza, T. & 2 others, Rossi, A. & Valente, E. M., 2019, In : Brain. 142, 10, p. 2965-2978 14 p.

Research output: Contribution to journalArticle

Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2

De Mori, R., Severino, M., Mancardi, M. M., Anello, D., Tardivo, S., Biagini, T., Capra, V., Casella, A., Cereda, C., Copeland, B. R., Gagliardi, S., Gamucci, A., Ginevrino, M., Illi, B., Lorefice, E., Musaev, D., Stanley, V., Micalizzi, A., Gleeson, J. G., Mazza, T. & 2 others, Rossi, A. & Valente, E. M., 2019, In : Brain : a journal of neurology. 142, 10, p. 2965-2978 14 p.

Research output: Contribution to journalArticle

Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2

De Mori, R., Severino, M., Mancardi, M. M., Anello, D., Tardivo, S., Biagini, T., Capra, V., Casella, A., Cereda, C., Copeland, B. R., Gagliardi, S., Gamucci, A., Ginevrino, M., Illi, B., Lorefice, E., Musaev, D., Stanley, V., Micalizzi, A., Gleeson, J. G., Mazza, T. & 2 others, Rossi, A. & Valente, E. M., 2019, In : Brain. 142, 10, p. 2965-2978 14 p.

Research output: Contribution to journalArticle

Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2

De Mori, R., Severino, M., Mancardi, M. M., Anello, D., Tardivo, S., Biagini, T., Capra, V., Casella, A., Cereda, C., Copeland, B. R., Gagliardi, S., Gamucci, A., Ginevrino, M., Illi, B., Lorefice, E., Musaev, D., Stanley, V., Micalizzi, A., Gleeson, J. G., Mazza, T. & 2 others, Rossi, A. & Valente, E. M., 2019, In : Brain. 142, (10), p. 2965-78

Research output: Contribution to journalArticle