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Article

ABORD IMMUNOLOGIQUE DE L'ARTHRITE CHRONIQUE JUVENILE

Translated title of the contribution: Immunological approach to juvenile rheumatoid arthritisMartini, A., 1988, In : Annales de Pediatrie. 35, 8, p. 555-558 4 p.

Research output: Contribution to journalArticle

About an unusual association of Fallot's tetralogy, omphalocele, osteogenesis imperfecta diagnosed in utero by ultrasound

Bogatti, P., Rustico, M. A. & D'Ottavio, G., 1986, In : New Trends in Gynaecology and Obstetrics. 2, 1, p. 80-86 7 p.

Research output: Contribution to journalArticle

A boy with acute strabismus

Poropat, F., Ventura, G., Murru, F. M., Orzan, E. & Maschio, M., Dec 2012, In : Journal of Pediatrics. 161, 6

Research output: Contribution to journalArticle

A boy with fever, cough and gross haematuria

Cozzi, G., Maschio, M., Poillucci, G., Pennesi, M. & Barbi, E., Aug 28 2017, In : Archives of Disease in Childhood: Education and Practice Edition.

Research output: Contribution to journalArticle

A boy with idiopathic interstitial lung disease

Montella, S., Rossi, G. A., Gambini, C., Pettinato, G., Parisi, F. & Santamaria, F., Feb 2002, In : Italian Journal of Pediatrics. 28, 1, p. 57-60 4 p.

Research output: Contribution to journalArticle

A boy with sudden headache

Norbedo, S., Naviglio, S., Murru, F. M., Cavallin, R., Giurici, N., Rabusin, M. & Barbi, E., 2014, In : Pediatric Emergency Care. 30, 3, p. 182-184 3 p.

Research output: Contribution to journalArticle

A boy with unexplained recurrent abdominal pain

Copertino, M., Pederiva, F., Barbieri, F., Codrich, D., Gregori, M. & Ventura, A., Dec 2013, In : Journal of Pediatrics. 163, 6

Research output: Contribution to journalArticle

A brain and heart connection: X-linked periventricular heterotopia

Naviglio, S., Bruno, I., Zanus, C., Faletra, F. & Ventura, A., Mar 1 2015, In : Journal of Pediatrics. 166, 3, p. 776 1 p.

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.

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Open Access

Abrupt intracardiac growth of a wilms tumor

Gortani, G., Anzini, M., Berton, E., Rabusin, M., Murru, F. & Benettoni, A., Sep 2013, In : Journal of Pediatrics. 163, 3

Research output: Contribution to journalArticle

Abscisic acid ameliorates the systemic sclerosis fibroblast phenotype in vitro

Bruzzone, S., Battaglia, F., Mannino, E., Parodi, A., Fruscione, F., Basile, G., Salis, A., Sturla, L., Negrini, S., Kalli, F., Stringara, S., Filaci, G., Zocchi, E. & Fenoglio, D., May 25 2012, In : Biochemical and Biophysical Research Communications. 422, 1, p. 70-74 5 p.

Research output: Contribution to journalArticle

Abscisic acid is an endogenous stimulator of insulin release from human pancreatic islets with cyclic ADP ribose as second messenger

Bruzzone, S., Bodrato, N., Usai, C., Guida, L., Moreschi, I., Nano, R., Antonioli, B., Fruscione, F., Magnone, M., Scarfì, S., De Flora, A. & Zocchi, E., Nov 21 2008, In : Journal of Biological Chemistry. 283, 47, p. 32188-32197 10 p.

Research output: Contribution to journalArticle

Absence of Bruton's tyrosine kinase (Btk) mutations in patients with acute myeloid leukaemia

Ritis, K., Speletas, M., Tsironidou, V., Pardali, E., Kanariou, M., Moschese, V., Orlandi, P., Skordala, M., Rossi, P., Kartalis, G., Bourikas, G. & Sideras, P., 1998, In : British Journal of Haematology. 102, 5, p. 1241-1248 8 p.

Research output: Contribution to journalArticle

Absence of chromosome heterogeneity between classical Fanconi's anemia and the Estren-Dameshek type

Dallapiccola, B., Alimena, G., Brinchi, V., Isacchi, G. & Gandini, E., 1980, In : Cancer Genetics and Cytogenetics. 2, 4, p. 349-360 12 p.

Research output: Contribution to journalArticle

Absence of correlation between BMP-4 polymorphism and postmenopausal osteoporosis in Italian women

Semprini, S., Mango, R., Brancati, F., Dallapiccola, B., Becherini, L., Novelli, G., De Lorenzo, A., Brandi, M. L. & Gennari, L., 2000, In : Calcified Tissue International. 67, 1, p. 93-94 2 p.

Research output: Contribution to journalArticle

Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin

Savoia, A., Noris, P., Perrotta, S., Punzo, F., Rocco, D. D., Oostra, B. A. & Balduini, C. L., Feb 2009, In : Platelets. 20, 1, p. 72-73 2 p.

Research output: Contribution to journalArticle

Absence of HTLV-I/II infection in blood donors with positive and inconclusive HTLV-I/II serology.

Re, M. C., Furlini, G., Ramazzotti, E., Vignoli, M., Zauli, G., Lolli, S., Monari, P., Belletti, D., Nanetti, A. & La Placa, M., Oct 1992, In : Microbiologica. 15, 4, p. 329-336 8 p.

Research output: Contribution to journalArticle

Absence of IL-12RΒ2 in CD33 + CD38 + pediatric acute myeloid leukemia cells favours progression in NOD/SCID/IL2RγC- deficient mice

Ferretti, E., Montagna, D., Di Carlo, E., Cocco, C., Ribatti, D., Ognio, E., Sorrentino, C., Lisini, D., Bertaina, A., Locatelli, F., Pistoia, V. & Airoldi, I., Feb 2012, In : Leukemia. 26, 2, p. 225-235 11 p.

Research output: Contribution to journalArticle

Absence of linkage between idiopathic dilated cardiomyopathy and candidate genes involved in the immune function in a large Italian pedigree

Krajinovic, M., Mestroni, L., Severini, G. M., Pinamonti, B., Camerini, F., Falaschi, A. & Giacca, M., Oct 1994, In : Journal of Medical Genetics. 31, 10, p. 766-771 6 p.

Research output: Contribution to journalArticle

Absence of maternal microchimerism in very early onset inflammatory bowel disease R1 [4]

Boniotto, M., Berti, I., Santon, D., Ventura, A. & Crovella, S., 2006, In : Journal of Gastroenterology and Hepatology. 21, 6, p. 1082-1084 3 p.

Research output: Contribution to journalArticle

Absence of metabolic cross-correction in Tay-Sachs cells: Implications for gene therapy

Martino, S., Emiliani, C., Tancini, B., Severini, G. M., Chigorno, V., Bordignon, C., Sonnino, S. & Orlacchio, A., Jun 7 2002, In : Journal of Biological Chemistry. 277, 23, p. 20177-20184 8 p.

Research output: Contribution to journalArticle

Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy

Nabbout, R., Kozlovski, A., Gennaro, E., Bahi-Buisson, N., Zara, F., Chiron, C., Bianchi, A., Brice, A., Leguern, E. & Dulac, O., Oct 2003, In : Epilepsy Research. 56, 2-3, p. 127-133 7 p.

Research output: Contribution to journalArticle

Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome

Ion, A., Tartaglia, M., Song, X., Kalidas, K., Van Der Burgt, I., Shaw, A. C., Ming, J. E., Zampino, G., Zackai, E. H., Dean, J. C. S., Somer, M., Parenti, G., Crosby, A. H., Patton, M. A., Gelb, B. D. & Jeffery, S., Oct 2002, In : Human Genetics. 111, 4-5, p. 421-427 7 p.

Research output: Contribution to journalArticle

Absence of sonic hedgehog (Shh) germline mutations in patients with thyroid dysgenesis

Muzza, M., Persani, L., Filippis, T. D., Gastaldi, R., Vigone, M. C., Sala, D., Weber, G., Lorini, R., Beck-Peccoz, P. & Fugazzola, L., Nov 2008, In : Clinical Endocrinology. 69, 5, p. 828-829 2 p.

Research output: Contribution to journalArticle

Absence of the left portal vein: A difficulty for reduction of liver grafts?

Mitchell, A., Mirza, D., De Goyet, J. D. V. & Buckels, J., Apr 27 2000, In : Transplantation. 69, 8, p. 1731-1732 2 p.

Research output: Contribution to journalArticle

Absorbable stabilisation of the bar in minimally invasive repair of pectus excavatum

Torre, M., Jasonni, V., Asquasciati, C., Costanzo, S., Romanini, M. V. & Varela, P., Dec 2008, In : European Journal of Pediatric Surgery. 18, 6, p. 407-409 3 p.

Research output: Contribution to journalArticle

Absorbed dose measurements from a 90Y radionuclide liquid solution using LiF:Mg,Cu,P thermoluminescent dosimeters

D'Arienzo, M., Pimpinella, M., De Coste, V., Capogni, M., Ferrari, P., Mariotti, F., Iaccarino, G., Ungania, S. & Strigari, L., Jan 2020, In : Physica Medica. 69, p. 127-133 7 p.

Research output: Contribution to journalArticle

Open Access

A c.3037G>A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype

Callea, M., Eric Willoughby, C., Camarata-Scalisi, F., Giovannoni, I., Vinciguerra, A., Yavuz, I., Di Stazio, M., Di Iorio, E., Clarich, G., Benettoni, A., Galeotti, A. & Bellacchio, E., Mar 2017, In : Investigacion Clinica. 58, 1, p. 70-8 9 p.

Research output: Contribution to journalArticle

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

Zhang, M., Ferrari, R., Tartaglia, M. C., Keith, J., Surace, E. I., Wolf, U., Sato, C., Grinberg, M., Liang, Y., Xi, Z., Dupont, K., McGoldrick, P., Weichert, A., McKeever, P. M., Schneider, R., McCorkindale, M. D., Manzoni, C., Rademakers, R., Graff-Radford, N. R., Dickson, D. W. & 61 others, Parisi, J. E., Boeve, B. F., Petersen, R. C., Miller, B. L., Seeley, W. W., Van Swieten, J. C., Van Rooij, J., Pijnenburg, Y., Van Der Zee, J., Van Broeckhoven, C., Le Ber, I., Van Deerlin, V., Suh, E., Rohrer, J. D., Mead, S., Graff, C., Öijerstedt, L., Pickering-Brown, S., Rollinson, S., Rossi, G., Tagliavini, F., Brooks, W. S., Dobson-Stone, C., Halliday, G. M., Hodges, J. R., Piguet, O., Binetti, G., Benussi, L., Ghidoni, R., Nacmias, B., Sorbi, S., Bruni, A. C., Galimberti, D., Scarpini, E., Rainero, I., Rubino, E., Clarimon, J., Lleó, A., Ruiz, A., Hernández, I., Pastor, P., Diez-Fairen, M., Borroni, B., Pasquier, F., Deramecourt, V., Lebouvier, T., Perneczky, R., Diehl-Schmid, J., Grafman, J., Huey, E. D., Mayeux, R., Nalls, M. A., Hernandez, D., Singleton, A., Momeni, P., Zeng, Z., Hardy, J., Robertson, J., Zinman, L., Rogaeva, E. & International FTD-Genomics Consortium (IFGC), 2018, In : Brain. 141, 10, p. 2895-2907 13 p.

Research output: Contribution to journalArticle

A cardiovascular simulator tailored for training and clinical uses

Fresiello, L., Ferrari, G., Di Molfetta, A., Zieliński, K., Tzallas, A., Jacobs, S., Darowski, M., Kozarski, M., Meyns, B., Katertsidis, N. S., Karvounis, E. C., Tsipouras, M. G. & Trivella, M. G., Oct 1 2015, In : Journal of Biomedical Informatics. 57, p. 100-112 13 p.

Research output: Contribution to journalArticle

A case-control study on proinflammatory genetic polymorphisms on sudden sensorineural hearing loss

Cadoni, G., Gaetani, E., Picciotti, P. M., Arzani, D., Quarta, M., Giannantonio, S., Paludetti, G. & Boccia, S., Jan 1 2015, In : Laryngoscope. 125, 1, p. E28-E32

Research output: Contribution to journalArticle

A case of acute lymphoblastic leukemia presenting as severe hypercalcemia

Buonuomo, P. S., Ruggiero, A., Piastra, M., Riccardi, R., Polidori, G. & Chiaretti, A., Sep 2004, In : Pediatric Hematology and Oncology. 21, 6, p. 475-479 5 p.

Research output: Contribution to journalArticle

A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus

Zollino, M., Orteschi, D., Marangi, G., De Crescenzo, A., Pecile, V., Riccio, A. & Neri, G., Jun 2010, In : Journal of Medical Genetics. 47, 6, p. 429-432 4 p.

Research output: Contribution to journalArticle

A case of Beckwith-Wiedemann syndrome with peculiar dental findings

Callea, M., Yavuz, I., Clarich, G., Gunay, A., Vinciguerra, A., Unal, M., Sahbaz, C., Sinan Dogan, M. & Cammarata-Scalisi, F., Dec 2016, In : European journal of paediatric dentistry : official journal of European Academy of Paediatric Dentistry. 17, 4, p. 315-317 3 p.

Research output: Contribution to journalArticle

A case of Beckwith- Wiedemann syndrome with peculiar dental findings

Callea, F., Yavuz, I., Clarich, G., Gunay, A., Vinciguerra, A., Unal, M., Sahbaz, C., Sinan Dogan, M. & Cammarata-Scalisi, F., 2016, In : European Journal of Paediatric Dentistry. 17, 4, p. 315-317 3 p.

Research output: Contribution to journalArticle

A case of body stalk anomaly at 10 weeks of gestation

Paladini, D., Tartaglione, A., Agangi, A., Foglia, S., Martinelli, P. & Nappi, C., 2001, In : Ultrasound in Obstetrics and Gynecology. 17, 2, p. 157-159 3 p.

Research output: Contribution to journalArticle

A case of cholera imported from Senegal to Rimini, Italy, June 2005.

degli Atti, M. C., Finarelli, A. C., Pompa, M. G., Toni, F., Bella, A., Callipari, O. & Luzzi, I., 2005, In : Euro surveillance : bulletin européen sur les maladies transmissibles = European communicable disease bulletin. 10, 6

Research output: Contribution to journalArticle

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., Mar 13 2015, In : QJM. 109, 1, p. 47-48 2 p., hcv061.

Research output: Contribution to journalArticle