Research Output

2020

Visual Function Classification System for children with cerebral palsy: development and validation

VFCS Study Group, Jun 10 2020, In : Developmental Medicine and Child Neurology. 64, 1, p. 114-110 6 p.

Research output: Contribution to journalArticle

Vitamin D plasma level can affect nivolumab drug exposure in a cohort of patients with non-small-cell lung cancer

Cusato, J., Genova, C., Tomasello, C., Carrega, P., Ottonello, S., Pietra, G., Mingari, M. C., Cossu, I., Rijavec, E., Leggieri, A., Di Perri, G., Dal Bello, M. G., Coco, S., Boccardo, S., Ferlazzo, G., Grossi, F. & D’Avolio, A., Jan 1 2020, In : Biochimica Clinica. 44, 1, p. 45-51 7 p.

Research output: Contribution to journalArticle

Vitamin D Receptor Polymorphisms Associated with Autism Spectrum Disorder

Guerini, F. R., Bolognesi, E., Chiappedi, M., Mensi, M. M., Fumagalli, O., Rogantini, C., Zanzottera, M., Ghezzo, A., Zanette, M., Agliardi, C., Costa, A. S., Sotgiu, S., Carta, A., Al Daghri, N. & Clerici, M., Feb 21 2020, In : Autism Research.

Research output: Contribution to journalArticle

Vitamin D Receptor Polymorphisms Associated with Autism Spectrum Disorder

Guerini, F. R., Bolognesi, E., Chiappedi, M., Mensi, M. M., Fumagalli, O., Rogantini, C., Zanzottera, M., Ghezzo, A., Zanette, M., Agliardi, C., Costa, A. S., Sotgiu, S., Carta, A., Al Daghri, N. & Clerici, M., Feb 21 2020, In : Autism Research.

Research output: Contribution to journalArticle

Open Access
2019

2B4 dysfunction in XLP1 NK cells: More than inability to control EBV infection

Pende, D., Meazza, R., Marcenaro, S., Aricò, M. & Bottino, C., Jul 2019, In : Clinical Immunology. 204, p. 31-36 6 p.

Research output: Contribution to journalReview article

9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression

Bonati, M. T., Castronovo, C., Sironi, A., Zimbalatti, D., Bestetti, I., Crippa, M., Novelli, A., Loddo, S., Dentici, M. L., Taylor, J., Devillard, F., Larizza, L. & Finelli, P., 2019, In : Neurogenetics. 20, 3, p. 145-154 10 p.

Research output: Contribution to journalArticle

9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression

Bonati, M. T., Castronovo, C., Sironi, A., Zimbalatti, D., Bestetti, I., Crippa, M., Novelli, A., Loddo, S., Dentici, M. L., Taylor, J., Devillard, F., Larizza, L. & Finelli, P., Jun 17 2019, In : Neurogenetics.

Research output: Contribution to journalArticle

Open Access

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

Flex, E., Martinelli, S., Van Dijck, A., Ciolfi, A., Cecchetti, S., Coluzzi, E., Pannone, L., Andreoli, C., Radio, F. C., Pizzi, S., Carpentieri, G., Bruselles, A., Catanzaro, G., Pedace, L., Miele, E., Carcarino, E., Ge, X., Chijiwa, C., Lewis, M. E. S., Meuwissen, M. & 40 others, Kenis, S., Van der Aa, N., Larson, A., Brown, K., Wasserstein, M. P., Skotko, B. G., Begtrup, A., Person, R., Karayiorgou, M., Roos, J. L., Van Gassen, K. L., Koopmans, M., Bijlsma, E. K., Santen, G. W. E., Barge-Schaapveld, D. Q. C. M., Ruivenkamp, C. A. L., Hoffer, M. J. V., Lalani, S. R., Streff, H., Craigen, W. J., Graham, B. H., van den Elzen, A. P. M., Kamphuis, D. J., Õunap, K., Reinson, K., Pajusalu, S., Wojcik, M. H., Viberti, C., Di Gaetano, C., Bertini, E., Petrucci, S., De Luca, A., Rota, R., Ferretti, E., Matullo, G., Dallapiccola, B., Sgura, A., Walkiewicz, M., Kooy, R. F. & Tartaglia, M., Sep 5 2019, In : American Journal of Human Genetics. 105, 3, p. 493-508 16 p.

Research output: Contribution to journalArticle

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

Flex, E., Martinelli, S., Van Dijck, A., Ciolfi, A., Cecchetti, S., Coluzzi, E., Pannone, L., Andreoli, C., Radio, F. C., Pizzi, S., Carpentieri, G., Bruselles, A., Catanzaro, G., Pedace, L., Miele, E., Carcarino, E., Ge, X., Chijiwa, C., Lewis, M. E. S., Meuwissen, M. & 40 others, Kenis, S., Van der Aa, N., Larson, A., Brown, K., Wasserstein, M. P., Skotko, B. G., Begtrup, A., Person, R., Karayiorgou, M., Roos, J. L., Van Gassen, K. L., Koopmans, M., Bijlsma, E. K., Santen, G. W. E., Barge-Schaapveld, D. Q. C. M., Ruivenkamp, C. A. L., Hoffer, M. J. V., Lalani, S. R., Streff, H., Craigen, W. J., Graham, B. H., van den Elzen, A. P. M., Kamphuis, D. J., Õunap, K., Reinson, K., Pajusalu, S., Wojcik, M. H., Viberti, C., Di Gaetano, C., Bertini, E., Petrucci, S., De Luca, A., Rota, R., Ferretti, E., Matullo, G., Dallapiccola, B., Sgura, A., Walkiewicz, M., Kooy, R. F. & Tartaglia, M., Sep 5 2019, In : American Journal of Human Genetics. 105, 3, p. 493-508 16 p.

Research output: Contribution to journalArticle

A bird’s-eye view of Italian genomic variation through whole-genome sequencing

Cocca, M., Barbieri, C., Concas, M. P., Robino, A., Brumat, M., Gandin, I., Trudu, M., Sala, C. F., Vuckovic, D., Girotto, G., Matullo, G., Polasek, O., Kolčić, I., Gasparini, P., Soranzo, N., Toniolo, D. & Mezzavilla, M., Jan 1 2019, (Accepted/In press) In : European Journal of Human Genetics.

Research output: Contribution to journalArticle

Open Access
Open Access

Abnormal Circadian Modification of Aδ-Fiber Pathway Excitability in Idiopathic Restless Legs Syndrome

Vollono, C., Della Marca, G., Testani, E., Losurdo, A., Virdis, D., Ferraro, D., Brunetti, V., Rossini, P. M., Le Pera, D., Mazza, S. & Valeriani, M., Jan 1 2019, In : Pain research & management. 2019, 1 p.

Research output: Contribution to journalArticle

Open Access

Abnormal circadian rhythm in patients with GRIN1-related developmental epileptic encephalopathy

Scala, M., Amadori, E., Fusco, L., Marchese, F., Capra, V., Minetti, C., Vari, M. S. & Striano, P., 2019, In : European Journal of Paediatric Neurology. 23, 4, p. 657-661 5 p.

Research output: Contribution to journalArticle

Abnormal circadian rhythm in patients with GRIN1-related developmental epileptic encephalopathy

Scala, M., Amadori, E., Fusco, L., Marchese, F., Capra, V., Minetti, C., Vari, M. S. & Striano, P., May 24 2019, In : European Journal of Paediatric Neurology.

Research output: Contribution to journalArticle

A brief review of genetic approaches to the study of food preferences: Current knowledge and future directions

Robino, A., Concas, M. P., Catamo, E. & Gasparini, P., Jan 1 2019, In : Nutrients. 11, 8, 1735.

Research output: Contribution to journalArticle

Open Access

A catalog of genetic loci associated with kidney function from analyses of a million individuals

Gasparini Paolo, 2019, In : Nature Genetics. 51, 6, p. 957-972 16 p.

Research output: Contribution to journalArticle

Accumulation of circulating CCR7þ natural killer cells marks melanoma evolution and reveals a CCL19-dependent metastatic pathway

Cristiani, C. M., Turdo, A., Ventura, V., Apuzzo, T., Capone, M., Madonna, G., Mallardo, D., Garofalo, C., Giovannone, E. D., Grimaldi, A. M., Tallerico, R., Marcenaro, E., Pesce, S., Zotto, G. D., Agosti, V., Costanzo, F. S., Gulletta, E., Rizzo, A., Moretta, A., Karre, K. & 3 others, Ascierto, P. A., Todaro, M. & Carbone, E., 2019, In : Cancer immunology research. 7, 5, p. 841-852 12 p.

Research output: Contribution to journalArticle

Accuracy and limitations of the growth hormone (GH) releasing hormone-arginine retesting in young adults with childhood-onset GH deficiency

Patti, G., Noli, S., Capalbo, D., Allegri, A. M. E., Napoli, F., Cappa, M., Ubertini, G. M., Gallizia, A., Notarnicola, S., Ibba, A., Crocco, M., Parodi, S., Salerno, M., Loche, S., Garré, M. L., Tornari, E., Maghnie, M. & Iorgi, N. D., 2019, In : Frontiers in Endocrinology. 10

Research output: Contribution to journalArticle

Accuracy and Limitations of the Growth Hormone (GH) Releasing Hormone-Arginine Retesting in Young Adults With Childhood-Onset GH Deficiency

Patti, G., Noli, S., Capalbo, D., Allegri, A. M. E., Napoli, F., Cappa, M., Ubertini, G. M., Gallizia, A., Notarnicola, S., Ibba, A., Crocco, M., Parodi, S., Salerno, M., Loche, S., Garré, M. L., Tornari, E., Maghnie, M. & Di Iorgi, N., 2019, In : Frontiers in Endocrinology. 10, p. 525

Research output: Contribution to journalArticle

A child with a novel ACAN missense variant mimicking a septic arthritis

Florio, A., Papa, R., Caorsi, R., Consolaro, A., Gastaldi, R., Gattorno, M. & Picco, P., Nov 20 2019, In : Ital. J. Pediatr.. 45, 1, p. 148

Research output: Contribution to journalArticle

A clinical diagnostic algorithm for early onset cerebellar ataxia

Brandsma, R., Verschuuren-Bemelmans, C. C., Amrom, D., Barisic, N., Baxter, P., Bertini, E., Blumkin, L., Brankovic-Sreckovic, V., Brouwer, O. F., Bürk, K., Catsman-Berrevoets, C. E., Craiu, D., de Coo, I. F. M., Gburek, J., Kennedy, C., de Koning, T. J., Kremer, H. P. H., Kumar, R., Macaya, A., Micalizzi, A. & 14 others, Mirabelli-Badenier, M., Nemeth, A., Nuovo, S., Poll-The, B., Lerman-Sagie, T., Steinlin, M., Synofzik, M., Tijssen, M. A. J., Vasco, G., Willemsen, M. A. A. P., Zanni, G., Valente, E. M., Boltshauser, E. & Sival, D. A., 2019, In : European Journal of Paediatric Neurology. 23, 5, p. 692-706 15 p.

Research output: Contribution to journalArticle

A clinical diagnostic algorithm for early onset cerebellar ataxia

Brandsma, R., Verschuuren-Bemelmans, C. C., Amrom, D., Barisic, N., Baxter, P., Bertini, E., Blumkin, L., Brankovic-Sreckovic, V., Brouwer, O. F., Bürk, K., Catsman-Berrevoets, C. E., Craiu, D., de Coo, I. F. M., Gburek, J., Kennedy, C., de Koning, T. J., Kremer, H. P. H., Kumar, R., Macaya, A., Micalizzi, A. & 14 others, Mirabelli-Badenier, M., Nemeth, A., Nuovo, S., Poll-The, B., Lerman-Sagie, T., Steinlin, M., Synofzik, M., Tijssen, M. A. J., Vasco, G., Willemsen, M. A. A. P., Zanni, G., Valente, E. M., Boltshauser, E. & Sival, D. A., Aug 10 2019, In : European Journal of Paediatric Neurology.

Research output: Contribution to journalArticle

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., 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