Research Output

2016 ACR-EULAR adult dermatomyositis and polymyositis and juvenile dermatomyositis response criteria-methodological aspects

Rider, L. G., Ruperto, N., Pistorio, A., Erman, B., Bayat, N., Lachenbruch, P. A., Rockette, H., Feldman, B. M., Huber, A. M., Hansen, P., Oddis, C. V., Lundberg, I. E., Amato, A. A., Chinoy, H., Cooper, R. G., Chung, L., Danko, K., Fiorentino, D., García-De la Torre, I., Reed, A. M. & 11 others, Wook Song, Y., Cimaz, R., Cuttica, R. J., Pilkington, C. A., Martini, A., van der Net, J., Maillard, S., Miller, F. W., Vencovsky, J., Aggarwal, R. & International Myositis Assessment and Clinical Studies Group and the Paediatric Rheumatology International Trials Organisation, Nov 1 2017, In : Rheumatology. 56, 11, p. 1884-1893 10 p.

Research output: Contribution to journalArticle

2016 American College of Rheumatology/European League Against Rheumatism criteria for minimal, moderate, and major clinical response in adult dermatomyositis and polymyositis: An International Myositis Assessment and Clinical Studies Group/Paediatric Rheumatology International Trials Organisation Collaborative Initiative

Aggarwal, R., Rider, L. G., Ruperto, N., Bayat, N., Erman, B., Feldman, B. M., Oddis, C. V., Amato, A. A., Chinoy, H., Cooper, R. G., Dastmalchi, M., Fiorentino, D., Isenberg, D., Katz, J. D., Mammen, A., de Visser, M., Ytterberg, S. R., Lundberg, I. E., Chung, L., Danko, K. & 9 others, García-De la Torre, I., Song, Y. W., Villa, L., Rinaldi, M., Rockette, H., Lachenbruch, P. A., Miller, F. W., Vencovsky, J. & International Myositis Assessment and Clinical Studies Group and the Paediatric Rheumatology International Trials Organisation, May 2017, In : Annals of the Rheumatic Diseases. 76, 5, p. 792-801 10 p.

Research output: Contribution to journalArticle

2016 American College of Rheumatology/European League Against Rheumatism Criteria for Minimal, Moderate, and Major Clinical Response in Adult Dermatomyositis and Polymyositis: An International Myositis Assessment and Clinical Studies Group/Paediatric Rheumatology International Trials Organisation Collaborative Initiative

Aggarwal, R., Rider, L. G., Ruperto, N., Bayat, N., Erman, B., Feldman, B. M., Oddis, C. V., Amato, A. A., Chinoy, H., Cooper, R. G., Dastmalchi, M., Fiorentino, D., Isenberg, D., Katz, J. D., Mammen, A., de Visser, M., Ytterberg, S. R., Lundberg, I. E., Chung, L., Danko, K. & 9 others, García-De la Torre, I., Song, Y. W., Villa, L., Rinaldi, M., Rockette, H., Lachenbruch, P. A., Miller, F. W., Vencovsky, J. & International Myositis Assessment and Clinical Studies Group and the Paediatric Rheumatology International Trials Organisation, May 2017, In : Arthritis and Rheumatology. 69, 5, p. 898-910 13 p.

Research output: Contribution to journalArticle

2016 American College of Rheumatology/European League Against Rheumatism Criteria for Minimal, Moderate, and Major Clinical Response in Juvenile Dermatomyositis: An International Myositis Assessment and Clinical Studies Group/Paediatric Rheumatology International Trials Organisation Collaborative Initiative

Rider, L. G., Aggarwal, R., Pistorio, A., Bayat, N., Erman, B., Feldman, B. M., Huber, A. M., Cimaz, R., Cuttica, R. J., de Oliveira, S. K., Lindsley, C. B., Pilkington, C. A., Punaro, M., Ravelli, A., Reed, A. M., Rouster-Stevens, K., van Royen-Kerkhof, A., Dressler, F., Magalhaes, C. S., Constantin, T. & 11 others, Davidson, J. E., Magnusson, B., Russo, R., Villa, L., Rinaldi, M., Rockette, H., Lachenbruch, P. A., Miller, F. W., Vencovsky, J., Ruperto, N. & International Myositis Assessment and Clinical Studies Group and the Paediatric Rheumatology International Trials Organisation, May 2017, In : Arthritis and Rheumatology. 69, 5, p. 911-923 13 p.

Research output: Contribution to journalArticle

2016 American College of Rheumatology/European League Against Rheumatism Criteria for Minimal, Moderate, and Major Clinical Response in Juvenile Dermatomyositis: An International Myositis Assessment and Clinical Studies Group/Paediatric Rheumatology International Trials Organisation Collaborative Initiative

Rider, L. G., Aggarwal, R., Pistorio, A., Bayat, N., Erman, B., Feldman, B. M., Huber, A. M., Cimaz, R., Cuttica, R. J., de Oliveira, S. K., Lindsley, C. B., Pilkington, C. A., Punaro, M., Ravelli, A., Reed, A. M., Rouster-Stevens, K., van Royen-Kerkhof, A., Dressler, F., Saad Magalhaes, C., Constantin, T. & 11 others, Davidson, J. E., Magnusson, B., Russo, R., Villa, L., Rinaldi, M., Rockette, H., Lachenbruch, P. A., Miller, F. W., Vencovsky, J., Ruperto, N. & International Myositis Assessment and Clinical Studies Group and the Paediatric Rheumatology International Trials Organisation, May 2017, In : Annals of the Rheumatic Diseases. 76, 5, p. 782-791 10 p.

Research output: Contribution to journalArticle

2016 Classification criteria for macrophage activation syndrome complicating systemic juvenile idiopathic arthritis: A European league against Rheumatism/American college of Rheumatology/Paediatric rheumatology international trials organisation collaborative initiative

Ravelli, A., Minoia, F. S., Davi', S., Horne, A. C., Bovis, F., Pistorio, A., Aricò, M., Avcin, T., Behrens, E. M., De Benedetti, F., Filipovic, L., Grom, A. A., Henter, J. I., Ilowite, N. T., Jordan, M. B., Khubchandani, R., Kitoh, T., Lehmberg, K., Lovell, D. J., Miettunen, P. & 16 others, Nichols, K. E., Ozen, S., Schmid, J. P., Ramanan, A. V., Russo, R., Schneider, R., Sterba, G., Uziel, Y., Wallace, C., Wouters, C., Wulffraat, N., Demirkaya, E., Brunner, H. I., Martini, A., Ruperto, N. & Cron, R. Q., Mar 1 2016, In : Annals of the Rheumatic Diseases. 75, 3, p. 481-489 9 p.

Research output: Contribution to journalArticle

2016 Classification criteria for macrophage activation syndrome complicating systemic juvenile idiopathic arthritis: A European league against Rheumatism/American college of Rheumatology/Paediatric rheumatology international trials organisation collaborative initiative

Ravelli, A., Minoia, F., Davì, S., Horne, A., Bovis, F., Pistorio, A., Aricò, M., Avcin, T., Behrens, E. M., De Benedetti, F., Filipovic, L., Grom, A., Henter, J. I., Ilowite, N. T., Jordan, M. B., Khubchandani, R., Kitoh, T., Lehmberg, K., Lovell, D., Miettunen, P. M. & 16 others, Nichols, K. E., Ozen, S., Schmid, J. P., Ramanan, A., Russo, R., Schneider, R., Sterba, G., Uziel, Y., Wallace, C., Wouters, C., Wulffraat, N., Demirkaya, E., Brunner, H., Martini, A., Ruperto, N. & Cron, R. Q., Mar 1 2016, In : Annals of the Rheumatic Diseases. 75, 3, p. 481-489 9 p.

Research output: Contribution to journalArticle

2016 Classification Criteria for Macrophage Activation Syndrome Complicating Systemic Juvenile Idiopathic Arthritis: A European League Against Rheumatism/American College of Rheumatology/Paediatric Rheumatology International Trials Organisation Collaborative Initiative

Ravelli, A., Minoia, F., Davì, S., Horne, A., Bovis, F., Pistorio, A., Aricò, M., Avcin, T., Behrens, E. M., De Benedetti, F., Filipovic, L., Grom, A., Henter, J. I., Ilowite, N. T., Jordan, M. B., Khubchandani, R., Kitoh, T., Lehmberg, K., Lovell, D. J., Miettunen, P. M. & 16 others, Nichols, K. E., Ozen, S., Pachlopnik Schmid, J., Ramanan, A., Russo, R., Schneider, R., Sterba, G., Uziel, Y., Wallace, C., Wouters, C., Wulffraat, N., Demirkaya, E., Brunner, H. I., Martini, A., Ruperto, N. & Cron, R. Q., Mar 1 2016, In : Arthritis and Rheumatology. 68, 3, p. 566-576 11 p.

Research output: Contribution to journalArticle

2016 Classification Criteria for Macrophage Activation Syndrome Complicating Systemic Juvenile Idiopathic Arthritis: A European League Against Rheumatism/American College of Rheumatology/Paediatric Rheumatology International Trials Organisation Collaborative Initiative

Ravelli, A., Minoia, F. S., Davì, S., Horne, A., Bovis, F., Pistorio, A., Aricò, M., Avcin, T., Behrens, E. M., De Benedetti, F., Filipovic, L., Grom, A. A., Henter, J. I., Ilowite, N. T., Jordan, M. B., Khubchandani, R., Kitoh, T., Lehmberg, K., Lovell, D. J., Miettunen, P. & 16 others, Nichols, K. E., Ozen, S., Pachlopnik Schmid, J., Ramanan, A. V., Russo, R., Schneider, R., Sterba, G., Uziel, Y., Wallace, C., Wouters, C., Wulffraat, N., Demirkaya, E., Brunner, H. I., Martini, A., Ruperto, N. & Cron, R. Q., Mar 1 2016, In : Arthritis and Rheumatology. 68, 3, p. 566-576 11 p.

Research output: Contribution to journalArticle

2016 SOSORT guidelines: Orthopaedic and rehabilitation treatment of idiopathic scoliosis during growth

Negrini, S., Donzelli, S., Aulisa, A. G., Czaprowski, D., Schreiber, S., de Mauroy, J. C., Diers, H., Grivas, T. B., Knott, P., Kotwicki, T., Lebel, A., Marti, C., Maruyama, T., O'Brien, J., Price, N., Parent, E., Rigo, M., Romano, M., Stikeleather, L., Wynne, J. & 1 others, Zaina, F., Jan 10 2018, In : Scoliosis and Spinal Disorders. 13, 1, 3.

Research output: Contribution to journalReview article

209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7-9 November 2014, Heemskerk, The Netherlands

Finkel, R., Bertini, E., Muntoni, F. & Mercuri, E., Jul 1 2015, In : Neuromuscular Disorders. 25, 7, p. 593-602 10 p.

Research output: Contribution to journalArticle

21-Hydroxylase deficiency: HLA genotypes and hormonal phenotypes in the families of 32 Italian patients.

Livieri, C., Belvedere, M., Martinetti, M., Beluffi, G., Fiori, P., Cogliati, C. R., Goffredo, V., Lorini, R. & Severi, F., 1985, In : Progress in Clinical and Biological Research. 200, p. 243-255 13 p.

Research output: Contribution to journalArticle

22q11 deletions in fetuses with malformations of the outflow tracts or interruption of the aortic arch: Impact of additional ultrasound signs

Volpe, P., Marasini, M., Caruso, G., Marzullo, A., Buonadonna, A. L., Arciprete, P., Di Paolo, S., Volpe, G. & Gentile, M., Sep 1 2003, In : Prenatal Diagnosis. 23, 9, p. 752-757 6 p.

Research output: Contribution to journalArticle

22q11 deletions in isolated and syndromic patients with tetralogy of Fallot

Amati, F., Mari, A., Digilio, M. C., Mingarelli, R., Marino, B., Giannotti, A., Novelli, G. & Dallapiccola, B., May 1995, In : Human Genetics. 95, 5, p. 479-482 4 p.

Research output: Contribution to journalArticle

22q11 Deletion syndrome: A review of some developmental biology aspects of the cardiovascular system

Restivo, A., Sarkozy, A., Digilio, M. C., Dallapiccola, B. & Marino, B., Feb 2006, In : Journal of Cardiovascular Medicine. 7, 2, p. 77-85 9 p.

Research output: Contribution to journalArticle

22-year-old girl with status epilepticus and progressive neurological symptoms

Striano, P., Ackerley, C. A., Cervasio, M., Girard, J. M., Turnbull, J., Del Basso-De Caro, M. L., Striano, S., Zara, F. & Minassian, B. A., Oct 2009, In : Brain Pathology. 19, 4, p. 727-730 4 p.

Research output: Contribution to journalArticle

24. Secreting germ cell tumors of the central nervous system (CNS). First results of the cooperative german/italian pilot study (CNS s GCT)

Calaminus, G., Andreussi, L., Garrè, M. L., Dieter Kortmann, R., Schober, R., Perilongo, G. & Gobel, U., 1997, In : Italian Journal of Neurological Sciences. 18, 4, p. 247-248 2 p.

Research output: Contribution to journalArticle

242 Breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread

Blonden, L. A. J., Grootscholten, P. M., den Dunnen, J. T., Bakker, E., Abbs, S., Bobrow, M., Boehm, C., van Broeckhoven, C., Baumbach, L., Chamberlain, J., Caskey, C. T., Denton, M., Felicetti, L., Galluzi, G., Fischbeck, K. H., Francke, U., Darras, B., Gilgenkrantz, H., Kaplan, J. C., Herrmann, F. H. & 20 others, Junien, C., Boileau, C., Liechti-Gallati, S., Lindlöf, M., Matsumoto, T., Niikawa, N., Müller, C. R., Poncin, J., Malcolm, S., Robertson, E., Romeo, G., Covone, A. E., Scheffer, H., Schröder, E., Schwartz, M., Verellen, C., Walker, A., Worton, R., Gillard, E. & van Ommen, G. J. B., 1991, In : Genomics. 10, 3, p. 631-639 9 p.

Research output: Contribution to journalArticle

24 Month Longitudinal Data in Ambulant Boys with Duchenne Muscular Dystrophy

Mazzone, E. S., Pane, M., Sormani, M. P., Scalise, R., Berardinelli, A., Messina, S., Torrente, Y., D'Amico, A., Doglio, L., Viggiano, E., D'Ambrosio, P., Cavallaro, F., Frosini, S., Bello, L., Bonfiglio, S., de Sanctis, R., Rolle, E., Bianco, F., Magri, F., Rossi, F. & 16 others, Vasco, G., Vita, G. L., Motta, M. C., Donati, M. A., Sacchini, M., Mongini, T., Pini, A., Battini, R., Pegoraro, E., Previtali, S., Napolitano, S., Bruno, C., Politano, L., Comi, G. P., Bertini, E. & Mercuri, E., Jan 17 2013, In : PLoS One. 8, 1, e52512.

Research output: Contribution to journalArticle

25-Hydroxycholesterol and inflammation in Lovastatin-deregulated mevalonate pathway

Tricarico, P. M., Gratton, R., Braga, L., Celsi, F. & Crovella, S., Nov 1 2017, In : International Journal of Biochemistry and Cell Biology. 92, p. 26-33 8 p.

Research output: Contribution to journalArticle

25-hydroxycholesterol reduces inflammation, viral load and cell death in ZIKV-infected U-87 MG glial cell line

Tricarico, P. M., Caracciolo, I., Gratton, R., D’Agaro, P. & Crovella, S., Jul 17 2018, (Accepted/In press) In : Inflammopharmacology. p. 1-5 5 p.

Research output: Contribution to journalArticle

25OH vitamin D levels in pediatric patients affected by Prader–Willi syndrome

Fintini, D., Pedicelli, S., Bocchini, S., Bizzarri, C., Grugni, G., Cappa, M. & Crinò, A., Nov 3 2017, (Accepted/In press) In : Journal of Endocrinological Investigation. p. 1-4 4 p.

Research output: Contribution to journalArticle

2B4 (CD244) is expressed and functional on human eosinophils

Munitz, A., Bachelet, I., Fraenkel, S., Katz, G., Mandelboim, O., Simon, H. U., Moretta, L., Colonna, M. & Levi-Schaffer, F., Jan 1 2005, In : Journal of Immunology. 174, 1, p. 110-118 9 p.

Research output: Contribution to journalArticle

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

Pende, D., Meazza, R., Marcenaro, S., Aricò, M. & Bottino, C., Jan 1 2018, (Accepted/In press) In : Clinical Immunology.

Research output: Contribution to journalArticle

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

2B4 functions as a co-receptor in human NK cell activation

Sivori, S., Parolini, S., Falco, M., Marcenaro, E., Biassoni, R., Bottino, C., Moretta, L. & Moretta, A., 2000, In : European Journal of Immunology. 30, 3, p. 787-793 7 p.

Research output: Contribution to journalArticle

2D-electrophoresis and the urine proteome map: Where do we stand?

Candiano, G., Santucci, L., Petretto, A., Bruschi, M., Dimuccio, V., Urbani, A., Bagnasco, S. & Ghiggeri, G. M., Mar 10 2010, In : Journal of Proteomics. 73, 5, p. 829-844 16 p.

Research output: Contribution to journalArticle

2'-deoxycoformycin as treatment in refractory Langerhans cell histiocytosis [1]

Lombardi, A., El Hachem, M. C., Rana, I. & De Rossi, G., 1997, In : Journal of Pediatrics. 130, 2, p. 330 1 p.

Research output: Contribution to journalArticle

2D MRI brain segmentation by using feasibility constraints

Pedoia, V., Binaghi, E., Balbi, S., De Benedictis, A., Monti, E. & Minotto, R., 2012, Computational Vision and Medical Image Processing, Proceedings of VipIMAGE 2011 - 3rd ECCOMAS Thematic Conference on Computational Vision and Medical Image Processing. p. 251-256 6 p.

Research output: Chapter in Book/Report/Conference proceedingConference contribution

2nd combined working group and management committee meeting of urine and kidney proteomics COST action 29-30 March 2009, Nafplio, Greece

Vlahou, A., Allmaier, G., Attwood, T., Bongcam-Rudloff, E., Charonis, A., Frokiaer, J., Mischak, H., Schanstra, J., Spasovski, G., Aasberg, A., Allory, Y., Arthur, J., Attwood, T., Banks, R., Baumann, M., Benigni, A., Bezerianos, A., Campistol, J. M., Candiano, G., Capasso, G. & 81 others, Carpentier, S., Dadlez, M., Deltas, C., Dijilianov, D., De Zeeuw, D., Decramer, S., Dihazi, H., Domon, B., Endlich, N., d'Alche-Buc, F., D'Haese, P., Edelman, A., Egido, J., El Nahas, M., Farinazzo, A., Fernandez-Llama, P., Feldt-Rasmussen, B., Frokiaer, J., Gansevoort, R., Garbis, S., Garin, J., Ghiggeri, G. M., Gimenez, I., Granier, C., Goumenos, D., Haylor, J. L., Hilario, M., Holthofer, H., Kalousis, A., Kaski, S., Knepper, M., Korneti, P., Kossida, S., Langham, R., Loftheim, H., Lopez-Novoa, J., Luider, T., Magni, F., Malats, N., Martin, J. L., Mayrhofer, C., Monsarrat, B., Mueller, G., Nielsen, S., Norling, M., O'Connell, S., Ortiz, A., Perunicic-Pekovic, G., Planelles, G., Polenakovic, M., Promponas, V., Rasic-Milutinovic, Z., Rehulka, P., Peter, K., Righetti, P. G., Ronco, P., Ryan, M., Sánchez-Carbayo, M., Schanstra, J., Semmes, J., Sheehan, D., Stenman, U. H., Stodkilde-Jorgensen, L., Tasic, V., Theodorescu, D., Thongboonkerd, V., Toncheva, D., Tsillibari, E., Tsiotis, G., Unwin, R., Vanholder, R., Vassilev, D., Vickers, M. E., Verhulst, A., Vilasi, A., Vlahakos, D., Vonk, R., Wright, P. C., Yamamoto, T., Yutaka, Y. & Zielenkiewicz, P., 2009, In : Proteomics - Clinical Applications. 3, 9, p. 1017-1022 6 p.

Research output: Contribution to journalArticle

2q31.2q32.3 deletion syndrome: Report of an adult patient

Prontera, P., Bernardini, L., Stangoni, G., Capalbo, A., Rogaia, D., Ardisia, C., Novelli, A., Dallapiccola, B. & Donti, E., Apr 2009, In : American Journal of Medical Genetics, Part A. 149, 4, p. 706-712 7 p.

Research output: Contribution to journalArticle

2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation

Ronzoni, L., Novelli, A., Brisighelli, G., Peron, A., Triulzi, F., Bianchi, V., Leva, E. & Bedeschi, M. F., 2016, In : Cytogenetic and Genome Research. 150, 1, p. 23-28 6 p.

Research output: Contribution to journalArticle

2 year neurodevelopmental and intermediate perinatal outcomes in infants with very preterm fetal growth restriction (TRUFFLE): A randomised trial

Lees, C. C., Marlow, N., Van Wassenaer-Leemhuis, A., Arabin, B., Bilardo, C. M., Brezinka, C., Calvert, S., Derks, J. B., Diemert, A., Duvekot, J. J., Ferrazzi, E., Frusca, T., Ganzevoort, W., Hecher, K., Martinelli, P., Ostermayer, E., Papageorghiou, A. T., Schlembach, D., Schneider, K. T. M., Thilaganathan, B. & 39 others, Todros, T., Valcamonico, A., Visser, G. H. A., Wolf, H., Aktas, A., Borgione, S., Chaoui, R., Cornette, J. M. J., Diehl, T., Van Eyck, J., Fratelli, N., Van Haastert, I. L., Lobmaier, S., Lopriore, E., Missfelder-Lobos, H., Mansi, G., Martelli, P., Maso, G., Maurer-Fellbaum, U., Van Charante, N. M., De Tollenaer, S. M., Napolitano, R., Oberto, M., Oepkes, D., Ogge, G., Van Der Post, J., Prefumo, F., Preston, L., Raimondi, F., Reiss, I. K. M., Scheepers, H. C. J., Schuit, E., Skabar, A., Spaanderman, M., Weisglas-Kuperus, N., Zimmermann, A., Moore, T., Johnson, S. & Rigano, S., May 30 2015, In : Lancet. 385, 9983, p. 2162-2172 11 p.

Research output: Contribution to journalArticle

3-(2-Benzyloxyphenyl)isoxazoles and isoxazolines: Synthesis and evaluation as CFTR activators

Sammelson, R. E., Ma, T., Galietta, L. J. V., Verkman, A. S. & Kurth, M. J., Aug 4 2003, In : Bioorganic and Medicinal Chemistry Letters. 13, 15, p. 2509-2512 4 p.

Research output: Contribution to journalArticle

3 Arsenico

Translated title of the contribution: Endocrine disruptors: 3. ArsenicSturchio, E., Minoia, C., Zanellato, M., Masotti, A., Leoni, E., Sottani, C., Biamonti, G., Ronchi, A., Casorri, L., Signorini, S. & Imbriani, M., Jan 2009, In : Giornale Italiano di Medicina del Lavoro ed Ergonomia. 31, 1, p. 5-32 28 p.

Research output: Contribution to journalArticle

3D additive-manufactured nanocomposite magnetic scaffolds: Effect of the application mode of a time-dependent magnetic field on hMSCs behavior

D'Amora, U., Russo, T., Gloria, A., Rivieccio, V., D'Antò, V., Negri, G., Ambrosio, L. & De Santis, R., Sep 2017, In : Bioactive Materials. 2, 3, p. 138-145 8 p.

Research output: Contribution to journalArticle

3-dimensional computed tomography imaging of the ring-sling complex with non-operative survival case in a 10-year-old female

Fukuda, H., Imataka, G., Drago, F., Maeda, K. & Yoshihara, S., Jan 1 2017, In : Experimental and Therapeutic Medicine. 14, 3, p. 2600-2602 3 p.

Research output: Contribution to journalArticle

3D modeling of human cancer: A PEG-fibrin hydrogel system to study the role of tumor microenvironment and recapitulate the in vivo effect of oncolytic adenovirus

Del Bufalo, F., Manzo, T., Hoyos, V., Yagyu, S., Caruana, I., Jacot, J., Benavides, O., Rosen, D. & Brenner, M. K., Apr 1 2016, In : Biomaterials. 84, p. 76-85 10 p.

Research output: Contribution to journalArticle

3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency

Rokicki, D., Pajdowska, M., Trubicka, J., Thong, M. K., Ciara, E., Piekutowska-Abramczuk, D., Pronicki, M., Sikora, R., Haidar, R., Ołtarzewski, M., Jabłońska, E., Muthukumarasamy, P., Sthaneswar, P., Gan, C. S., Krajewska-Walasek, M., Carrozzo, R., Verrigni, D., Semeraro, M., Rizzo, C., Taurisano, R. & 6 others, Alhaddad, B., Kovacs-Nagy, R., Haack, T. B., Dionisi-Vici, C., Pronicka, E. & Wortmann, S. B., Aug 1 2017, In : Clinica Chimica Acta. 471, p. 95-100 6 p.

Research output: Contribution to journalArticle

3-Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease

Di Rocco, M., Caruso, U., Moroni, I., Lupino, S., Lamantea, E., Fantasia, A. R., Borrone, C. & Gibson, K. M., 1999, In : Journal of Inherited Metabolic Disease. 22, 5, p. 593-598 6 p.

Research output: Contribution to journalArticle

3-month and 12-month mortality after first liver transplant in adults in Europe: Predictive models for outcome

Burroughs, A. K., Sabin, C. A., Rolles, K., Delvart, V., Karam, V., Buckels, J., O'Grady, J. G., Castaing, D., Klempnauer, J., Jamieson, N., Neuhaus, P., Lerut, J., De Ville De Goyet, J., Pollard, S., Salizzoni, M., Rogiers, X., Muhlbacher, F., Garcia Valdecasas, J. C., Broelsch, C., Jaeck, D. & 3 others, Berenguer, J., Gonzalez, E. M. & Adam, R., Jan 21 2006, In : Lancet. 367, 9506, p. 225-232 8 p.

Research output: Contribution to journalArticle

3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient

Meazza, C., Lausch, E., Pagani, S., Bozzola, E., Calcaterra, V., Superti-Furga, A., Silengo, M. & Bozzola, M., 2013, In : Italian Journal of Pediatrics. 39, 1, 21.

Research output: Contribution to journalArticle

3p13 region: A possible location of a tumor suppressor gene involved in uveal melanoma

Blasi, M. A., Roccella, F., Balestrazzi, E., Del Porto, G., De Felice, N., Roccella, M., Rota, R. & Grammatico, P., Jan 1999, In : Cancer Genetics and Cytogenetics. 108, 1, p. 81-83 3 p.

Research output: Contribution to journalArticle

3p13 region a possible location of a tumor suppressor ghne involved in uveal melanoma

Lasi, M. B., Roccella, F., De Felice, N., Roccella, M., Rota, R. & Grarnmatico, P., 1997, In : Investigative Ophthalmology and Visual Science. 38, 4

Research output: Contribution to journalArticle

3p25.3 microdeletion of GABA transporters SLC6A1 and SLC6A11 results in intellectual disability, epilepsy and stereotypic behavior

Dikow, N., Maas, B., Karch, S., Granzow, M., Janssen, J. W. G., Jauch, A., Hinderhofer, K., Sutter, C., Schubert-Bast, S., Anderlid, B. M., Dallapiccola, B., Van der Aa, N. & Moog, U., Dec 1 2014, In : American Journal of Medical Genetics, Part A. 164, 12, p. 3061-3068 8 p.

Research output: Contribution to journalArticle