Research Output

A case of chronic recurrent multifocal osteomyelitis successfully treated with neridronate

De Cunto, A., Maschio, M., Lepore, L. & Zennaro, F., Jan 2009, In : Journal of Pediatrics. 154, 1, p. 154-155 2 p.

Research output: Contribution to journalArticle

A case of chylous dysplasia causing a serious condition immunodeficiency

Francesco, B., Carlo, B., Chiara, B., Corrado, C., Emanuela, B. & Corradino, C., Jun 2009, In : European Journal of Lymphology and Related Problems. 20, 56, p. 23-25 3 p.

Research output: Contribution to journalArticle

A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia

Luigetti, M., Modoni, A., Renna, R., Silvestri, G., Ricci, E., Montano, N., Tasca, G., Papacci, M., Monforte, M., Conte, A., Pomponi, M. G. & Sabatelli, M., Nov 2010, In : Clinical Neurology and Neurosurgery. 112, 9, p. 794-797 4 p.

Research output: Contribution to journalArticle

A case of congenital hypothyroidism in PHACE syndrome

Carinci, S., Tumini, S., Consilvio, N. P., Cipriano, P., Di Stefano, A., Vercellino, N., Dalmonte, P. & Chiarelli, F., Jun 1 2012, In : Journal of Pediatric Endocrinology and Metabolism. 25, 5-6, p. 603-605 3 p.

Research output: Contribution to journalArticle

A case of congenital neuromuscular disease with uniform type I fibers, abnormal mitochondrial network and jagged Z-line

Pellegrini, G., Barbieri, S., Moggio, M., Cheldi, A., Scarlato, G. & Minetti, C., 1985, In : Neuropediatrics. 16, 3, p. 162-166 5 p.

Research output: Contribution to journalArticle

A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation

Di Rocco, M., Caruso, U., Briem, E., Rossi, A., Allegri, A. E. M., Buzzi, D. & Tiranti, V., Dec 2006, In : Molecular Genetics and Metabolism. 89, 4, p. 395-397 3 p.

Research output: Contribution to journalArticle

A case of familial hemiplegic migraine associated with a novel atp1a2 gene mutation

De Cunto, A., Bensa, M. & Tonelli, A., Aug 2012, In : Pediatric Neurology. 47, 2, p. 133-136 4 p.

Research output: Contribution to journalArticle

Open Access

A case of Hennekam syndrome diagnosed at birth

Bellini, C., Arioni, C., Mazzella, M., Campisi, C. & Serra, G., Feb 2002, In : Italian Journal of Pediatrics. 28, 1, p. 61-64 4 p.

Research output: Contribution to journalArticle

A case of infant botulism in a 4-month-old baby

Sabatini, D., Papetti, L., Lonati, D., Anniballi, F., Auricchio, B., Properzi, E. & Grassi, M. C., Jan 1 2016, In : QJM - Monthly Journal of the Association of Physicians. 109, 1, p. 47-48 2 p., hcv061.

Research output: Contribution to journalArticle

A case of infant botulism in a 4-month-old baby

Sabatini, D., Papetti, L., Lonati, D., Anniballi, F., Auricchio, B., Properzi, E. & Grassi, M. C., Mar 13 2015, In : QJM. 109, 1, p. 47-48 2 p., hcv061.

Research output: Contribution to journalArticle

A case of large uterine myoma in a 14-year-old girl

Maggiore, U. L. R., Ferrero, S., Bogliolo, S., Fulcheri, E., Musizzano, Y. & Menada, M. V., Apr 1 2013, In : Journal of Gynecologic Surgery. 29, 2, p. 83-87 5 p.

Research output: Contribution to journalArticle

A case of linear IgA disease in a child with IgA and IgG circulating antibodies directed to BPAg2

Viglizzo, G., Cozzani, E., Nozza, P., Occella, C. & Parodi, A., Dec 2007, In : International Journal of Dermatology. 46, 12, p. 1302-1304 3 p.

Research output: Contribution to journalArticle

A case of lipoma corpi callosi diagnosed in utero by ultrasound

Nesladek, N., D'Ottavio, G. & Bogatti, P., 1986, In : New Trends in Gynaecology and Obstetrics. 2, 1, p. 102-108 7 p.

Research output: Contribution to journalArticle

A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation

Fabretto, A., Shardlow, A., Faletra, F., Lepore, L., Hladnik, U. & Gasparini, P., Jun 2010, In : Ophthalmic Genetics. 31, 2, p. 98-100 3 p.

Research output: Contribution to journalArticle

A case of major form familial hyperekplexia: Prenatal diagnosis and effective treatment with clonazepam

Doria Lamba, L., Giribaldi, G., De Negri, E., Follo, R., De Grandis, E., Pintaudi, M. & Veneselli, E., Jun 2007, In : Journal of Child Neurology. 22, 6, p. 769-772 4 p.

Research output: Contribution to journalArticle

A case of malaria diagnosed in a pediatric emergency department

Debbia, C., Mantero, E., Rossi, F. & Di Pietro, P., Apr 2007, In : Italian Journal of Pediatrics. 33, 2, p. 65-66 2 p.

Research output: Contribution to journalArticle

A case of massive gastric necrosis in a young girl with Rett Syndrome

Baldassarre, E., Capuano, G., Valenti, G., Maggi, P., Conforti, A. & Prosperi Porta, I., Jan 2006, In : Brain and Development. 28, 1, p. 49-51 3 p.

Research output: Contribution to journalArticle

A case of microcytic anemia

Invernizzi, R. & Locatelli, F., 1998, In : Haematologica. 83, 1, p. 90 1 p.

Research output: Contribution to journalArticle

A case of multiple intestinal atresias, brain anomalies, mental retardation, growth hormone deficiency and clitoris hypertrophy

Guala, A., Licardi, G., Maghnie, M., Minniti, S. & Danesino, C., 1998, In : Clinical Dysmorphology. 7, 3, p. 209-211 3 p.

Research output: Contribution to journalArticle

A case of neonatal human parechovirus encephalitis with a favourable outcome

Renna, S., Bergamino, L., Pirlo, D., Rossi, A., Furione, M., Piralla, A., Mascaretti, M., Cristina, E., Marazzi, M. G. & Pietro, P. D., Jan 2014, In : Brain and Development. 36, 1, p. 70-73 4 p.

Research output: Contribution to journalArticle

A case of neonatal linear IgA bullous dermatosis with severe eye involvement

Romani, L., Diociaiuti, A., D’Argenio, P., El Hachem, M., Gargiullo, L., Boldrini, R., De Pità, O., Petroni, S. & Zambruno, G., Nov 1 2015, In : Acta Dermato-Venereologica. 95, 8, p. 1015-1017 3 p.

Research output: Contribution to journalArticle

A case of omphalocele with hypotonia and psychomotor retardation

Erba, D., Romano, L. & Casciaro, R., Apr 2003, In : Italian Journal of Pediatrics. 29, 2, p. 99-101 3 p.

Research output: Contribution to journalArticle

A case of paediatric discoid lupus erythematosus evolving into SLE [1]

Picco, P., Gattorno, M., Buoncompagni, A., Vignola, S., Pistoia, V. & Crovato, F., 1998, In : Clinical and Experimental Rheumatology. 16, 5, p. 620 1 p.

Research output: Contribution to journalArticle

A case of pediatric Systemic Lupus Erythematosus with early onset and unusual serologic and clinical findings

Tozzi, M. C., Bruni, L., Capolino, R., Ferri, M. & Ricci, T., 1997, In : European Review for Medical and Pharmacological Sciences. 1, 1-3, p. 101-104 4 p.

Research output: Contribution to journalArticle

A case of prenatal neurocytoma associated with ATR-16 syndrome

Quadrifoglio, M. C., Faletra, F., Bussani, R., Pecile, V., Zennaro, F., Grasso, A., Zandonà, L., Alberico, S. & Stampalija, T., Jun 1 2016, In : Journal of Ultrasound in Medicine. 35, 6, p. 1359-1361 3 p.

Research output: Contribution to journalArticle

A case of primary selective hypoaldosteronism carrying three mutations in the aldosterone synthase (Cyp11b2) gene

Taranta, A., Bizzarri, C., Masotti, A., Sciré, G., Pampanini, V. & Cappa, M., May 25 2012, In : Gene. 500, 1, p. 22-27 6 p.

Research output: Contribution to journalArticle

A case of purulent pericarditis caused by Haemophilus influenzae serotype b

Zangari, P., Santilli, A., Santilli, V., Cotugno, N., Calò Carducci, F. I. & D'Argenio, P., Oct 2011, In : Gazzetta Medica Italiana Archivio per le Scienze Mediche. 170, 5, p. 353-357 5 p.

Research output: Contribution to journalArticle

A case of Rubinstein-Taybi syndrome associated with growth hormone deficiency in childhood

Tornese, G., Marzuillo, P., Pellegrin, M. C., Germani, C., Faleschini, E., Zennaro, F., Grandone, A., Miraglia Del Giudice, E., Perrone, L. & Ventura, A., Sep 1 2015, In : Clinical Endocrinology. 83, 3, p. 437-439 3 p.

Research output: Contribution to journalArticle

A case of squamous papilloma of the esophagus: Spontaneous disappearance?

Ciommo, V. D., Ferrario, F., Boldrini, R. & Bosman, C., 1993, In : Journal of Clinical Gastroenterology. 17, 3, p. 264-265 2 p.

Research output: Contribution to journalArticle

A case of stillbirth: The importance of placental investigation in medico-legal practice

Marchetti, D., Belviso, M. & Fulcheri, E., Mar 2009, In : American Journal of Forensic Medicine and Pathology. 30, 1, p. 64-68 5 p.

Research output: Contribution to journalArticle

A case of trisomy 8

Dallapiccola, B., Gallenga, P. E., Pinca, A. & Capra, L., 1974, In : Acta Geneticae Medicae et Gemellologiae. Vol. 23, p. 253-258 6 p.

Research output: Contribution to journalArticle

A case of X-lymphoproliferative disease presenting with a clinical and immunological phenotype of common variable immunodeficiency

Soresina, A., Insalaco, A., Giliani, S., Castagna, M., Forino, C., Arrighetti, A., Lougaris, V. & Plebani, A., Feb 2002, In : Italian Journal of Pediatrics. 28, 1, p. 53-56 4 p.

Research output: Contribution to journalArticle

A case report on filamin A gene mutation and progressive pulmonary disease in an infant: A lung tissued derived mesenchymal stem cell study

Calcaterra, V., Avanzini, M. A., Mantelli, M., Agolini, E., Croce, S., De Silvestri, A., Re, G., Collura, M., Maltese, A., Novelli, A. & Pelizzo, G., Dec 2018, In : Medicine. 97, 50, p. e13033 6 p.

Research output: Contribution to journalArticle

A case report on filamin A gene mutation and progressive pulmonary disease in an infant: A lung tissued derived mesenchymal stem cell study

Calcaterra, V., Avanzini, M. A., Mantelli, M., Agolini, E., Croce, S., De Silvestri, A., Re, G., Collura, M., Maltese, A., Novelli, A. & Pelizzo, G., 2018, In : Medicine. 97, 50, p. e13033

Research output: Contribution to journalArticle

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

A cause of late graft dysfunction after liver transplantation in children: De-novo autoimmune hepatitis

Spada, M., Bertani, A., Sonzogni, A., Petz, W., Riva, S., Torre, G., Melzi, M. L., Alberti, D., Colledan, M., Segalin, A., Lucianetti, A. & Gridelli, B., 2001, In : Transplantation Proceedings. 33, 1-2, p. 1747-1748 2 p.

Research output: Contribution to journalArticle

Accelerated chemotherapy with or without GM-CSF for small cell lung cancer: a non-randomised pilot study

Ardizzoni, A., Sertoli, M. R., Corcione, A., Pennucci, M. C., Baldini, E., Intra, E., Ferrarini, M., Rosso, R., Mazzanti, P. & Pistoia, V., 1990, In : European Journal of Cancer and Clinical Oncology. 26, 9, p. 937-941 5 p.

Research output: Contribution to journalArticle

Accelerated fatigue tests of wire ropes

Branca, F. P., Cappa, P. & Steindler, R., Sep 1990, In : Wire Industry. 57, 681, p. 654-658 5 p.

Research output: Contribution to journalArticle

Accelerated female differentiation of the gonad by inhibition of steroidogenesis in amphibia

Zaccanti, F., Petrini, S., Rubatta, M. L., Stagni, A. M. & Giorgi, P. P., Jan 1994, In : Comparative Biochemistry and Physiology - A Molecular and Integrative Physiology. 107, 1, p. 171-179 9 p.

Research output: Contribution to journalArticle

Accelerated tumor progression in mice lacking the ATP receptor P2X7

Adinolfi, E., Capece, M., Franceschini, A., Falzoni, S., Giuliani, A. L., Rotondo, A., Sarti, A. C., Bonora, M., Syberg, S., Corigliano, D., Pinton, P., Jorgensen, N. R., Abelli, L., Emionite, L., Raffaghello, L., Pistoia, V. & Di Virgilio, F., Feb 15 2015, In : Cancer Research. 75, 4, p. 635-644 10 p.

Research output: Contribution to journalArticle

Acceleration and deceleration capacity of fetal heart rate in an in-vivo sheep model

Rivolta, M. W., Stampalija, T., Casati, D., Richardson, B. S., Ross, M. G., Frasch, M. G., Bauer, A., Ferrazzi, E. & Sassi, R., Aug 20 2014, In : PLoS One. 9, 8, e104193.

Research output: Contribution to journalArticle

Accertamento della morte: morte certa e morte accertata.

Translated title of the contribution: Ascertainment of death: a certain death and ascertained deathFulcheri, E. & Grilletto, R., Feb 2003, In : Pathologica. 95, 1, p. 42-49 8 p.

Research output: Contribution to journalArticle

Accertamento diagnostico, nosografia, principi di trattamento delle iperfenilalaninemie

Translated title of the contribution: Diagnosis, classification, basis of treatment of hyperphenylalaninemiasRomano, C., Balsamo, A., Burroni, M., Cardillo, A., Carnevale, F., Caruso, U., Cerone, R., Ciatti, R., Cioni, M., Corbetta, C., Dotti, L., Impellizzeri, A., Lelli, A., Leuzzi, V., Lilliu, F., Pagliardini, S., Piazzi, S., Principi, R., Salardi, S. & Schiaffino, M. C., 1997, In : Rivista Italiana di Pediatria. 23, 6, p. 1040-1044 5 p.

Research output: Contribution to journalArticle

ACCESSI ED EMPIEMI BATTERICI INTRACRANICI

Translated title of the contribution: Intracranial bacterial abscess and empyemaMantero, E., Losurdo, G., Carini, S., Tacchella, A., Cama, A., Ceccarelli, R., Piatelli, G. L., Ravegnani, M., Tortori Donati, P., Andreussi, L. & Jannuzzi, C., 1992, In : Minerva Pediatrica. 44, 10 SUPPL. 1, p. 27-35 9 p.

Research output: Contribution to journalArticle