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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

Abitudini di vita e attività fisica del bambino operato per cardiopatia congenita.

Translated title of the contribution: The life style and physical activity of the child operated on for congenital cardiopathyDrago, F., Digilio, M. C., Giannico, S., Giannotti, A., Santilli, A., Turchetta, A. & Calzolari, A., Jun 1991, In : Minerva Pediatrica. 43, 6, p. 427-432 6 p.

Research output: Contribution to journalArticle

Ablation of lesions or no treatment in minimal-mild endometriosis in infertile women: A randomized trial

Parazzini, F., Cintio, E. D., Chatenoud, L., Moroni, S., Ardovino, I., Struzziero, E., Bracco, G., Pellegrini, A., Bertulessi, C., Busacca, M., Gruft, L., Ragni, G., Massobrio, M., Ansaldi, C., Trossarelli, G. F., Eusebio, E., Troiano, L. & Ricci, G., 1999, In : Human Reproduction. 14, 5, p. 1332-1334 3 p.

Research output: Contribution to journalArticle

Ablazione transcatetere con radiofrequenza delle tachicardie sopraventricolari in età pediatrica: Risultati immediati e di un follow-up a medio termine

Translated title of the contribution: Transcatheter radiofrequency ablation of supraventricular tachycardia in children: Early results and mid-term follow-upMontenero, A. S., Drago, F., Crea, F., Varano, C., Guarneri, S., Cipriani, A., Pelargonio, G., Agostino, D. A., Bellocci, F., Ragonese, P. & Zecchi, P., Jan 1996, In : Giornale Italiano di Cardiologia. 26, 1, p. 31-40 10 p.

Research output: Contribution to journalArticle

Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders

Schanze, D., Harakalova, M., Stevens, C. A., Brancati, F., Dallapiccola, B., Farndon, P., Ferraz, V. E. F., Mcdonald-Mcginn, D. M., Zackai, E. H., Wright, M., van Lieshout, S., Vogel, M. J., van Haelst, M. M. & Zenker, M., Dec 2013, In : American Journal of Medical Genetics, Part A. 161, 12, p. 3012-3017 6 p.

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Ablepharon-macrostomia syndrome in a 46-year-old woman

Brancati, F., Mingarelli, R., Sarkozy, A. & Dallapiccola, B., May 15 2004, In : American Journal of Medical Genetics. 127 A, 1, p. 96-98 3 p.

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A blue dive: from 'blue fingers' to 'blue silver'. A comparative overview of staining methods for in-gel proteomics.

Panfoli, I., Calzia, D., Santucci, L., Ravera, S., Bruschi, M. & Candiano, G., Dec 2012, In : Expert Review of Proteomics. 9, 6, p. 627-634 8 p.

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ABMT for children AML: Italian experience

Meloni, G., Vignetti, M., Andrizzi, C., Dallorso, S., Bonetti, F., Zanesco, L., Madon, E., Andolina, M., Carella, A. M., De Laurenzi, A. & Lambertenghi, G., 1991, In : Bone Marrow Transplantation. 7, SUPPL. 3, p. 80-83 4 p.

Research output: Contribution to journalArticle

ABMT for Wilms' tumor: EBMT experience

Garaventa, A., Hartmann, O., Bernard, J. L., Pardo, N., Castel, V., Dallorso, S., Abdelbost, Z., Chauvin, F. & Philip, T., 1991, In : Bone Marrow Transplantation. 7, SUPPL. 3, p. 118-119 2 p.

Research output: Contribution to journalArticle

Abnormal activation of calpain and protein kinase Cα promotes a constitutive release of matrix metalloproteinase 9 in peripheral blood mononuclear cells from cystic fibrosis patients

Averna, M., Bavestrello, M., Cresta, F., Pedrazzi, M., De Tullio, R., Minicucci, L., Sparatore, B., Salamino, F., Pontremoli, S. & Melloni, E., Aug 15 2016, In : Archives of Biochemistry and Biophysics. 604, p. 103-112 10 p.

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Abnormal asymmetry of brain connectivity in schizophrenia

Ribolsi, M., Daskalakis, Z. J., Siracusano, A. & Koch, G., Dec 22 2014, In : Frontiers in Human Neuroscience. 8, DEC, 1010.

Research output: Contribution to journalArticle

Abnormal behavior of cultured fibroblasts from nodule and nonaffected aponeurosis of Dupuytren's disease

Azzarone, B., Failly-Crepin, C., Daya-Grosjean, L., Chaponnier, C. & Gabbiani, G., 1983, In : Journal of Cellular Physiology. 117, 3, p. 353-361 9 p.

Research output: Contribution to journalArticle

Abnormal bone marrow stroma in mice deficient for nemo-like kinase, Nlk

Kortenjann, M., Nehls, M., Smith, A. J. H., Carsetti, R., Schüler, J., Köhler, G. & Boehm, T., 2001, In : European Journal of Immunology. 31, 12, p. 3580-3587 8 p.

Research output: Contribution to journalArticle

Abnormal brain lateralization and connectivity in schizophrenia

Ribolsi, M., Koch, G., Magni, V., Di Lorenzo, G., Rubino, I. A., Siracusano, A. & Centonze, D., 2009, In : Reviews in the Neurosciences. 20, 1, p. 61-70 10 p.

Research output: Contribution to journalArticle

Abnormal brain processing of cutaneous pain in patients with chronic migraine

De Tommaso, M., Valeriani, M., Guido, M., Libro, G., Specchio, L. M., Tonali, P. & Puca, F., Jan 2003, In : Pain. 101, 1-2, p. 25-32 8 p.

Research output: Contribution to journalArticle

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., May 24 2019, In : European Journal of Paediatric Neurology.

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., 2019, In : European Journal of Paediatric Neurology. 23, 4, p. 657-661 5 p.

Research output: Contribution to journalArticle

Abnormal cortical pain processing in patients with cardiac syndrome X

De Armas, L., Le Pera, D., Restuccia, D., Tonali, P. A., Sestito, A., Lanza, G. A., Infusino, F., Crea, F. & Valeriani, M., Mar 2005, In : International Congress Series. 1278, p. 393-396 4 p.

Research output: Contribution to journalArticle

Abnormal cortical pain processing in patients with cardiac syndrome X

Valeriani, M., Sestito, A., Le Pera, D., De Armas, L., Infusino, F., Maiese, T., Sgueglia, G. A., Tonali, P. A., Crea, F., Restuccia, D. & Lanza, G. A., May 2005, In : European Heart Journal. 26, 10, p. 975-982 8 p.

Research output: Contribution to journalArticle

Abnormal cytoplasmic extensions associated with active αIIbβ3 are probably the cause for macrothrombocytopenia in Glanzmann thrombasthenia-like syndrome

Hauschner, H., Mor-Cohen, R., Messineo, S., Mansour, W., Seligsohn, U., Savoia, A. & Rosenberg, N., Apr 7 2015, In : Blood Coagulation and Fibrinolysis. 26, 3, p. 302-308 7 p.

Research output: Contribution to journalArticle

Abnormal development of the enteric nervous system in rat embryos and fetuses with congenital diaphragmatic hernia

Martínez, L., Aras-López, R., Lancha, S., Vallejo-Cremades, M. T., Pederiva, F., Xiaomei, L. & Tovar, J. A., Feb 2011, In : Pediatric Surgery International. 27, 2, p. 165-173 9 p.

Research output: Contribution to journalArticle

Abnormal development of tracheal innervation in rats with experimental diaphragmatic hernia

Pederiva, F., Aras Lopez, R., Martinez, L. & Tovar, J. A., Dec 2008, In : Pediatric Surgery International. 24, 12, p. 1341-1346 6 p.

Research output: Contribution to journalArticle

Abnormal expression of leiomyoma cytoskeletal proteins involved in cell migration

Ura, B., Scrimin, F., Arrigoni, G., Athanasakis, E., Aloisio, M., Monasta, L. & Ricci, G., May 1 2016, In : Oncology Reports. 35, 5, p. 3094-3100 7 p.

Research output: Contribution to journalArticle

Abnormal gating of somatosensory inputs in essential tremor

Restuccia, D., Valeriani, M., Barba, C., Le Pera, D., Bentivoglio, A., Albanese, A., Rubino, M. & Tonali, P., Jan 1 2003, In : Clinical Neurophysiology. 114, 1, p. 120-129 10 p.

Research output: Contribution to journalArticle

Abnormal glucose tolerance in children with cystic fibrosis: The predictive role of continuous glucose monitoring system

Schiaffini, R., Brufani, C., Russo, B., Fintini, D., Migliaccio, A., Pecorelli, L., Bizzarri, C., Lucidi, V. & Cappa, M., Apr 1 2010, In : European Journal of Endocrinology. 162, 4, p. 705-710 6 p.

Research output: Contribution to journalArticle

Abnormal hypertensive response during exercise test in normotensive transplanted children and adolescents

Matteucci, M. C., Calzolari, A., Pompei, E., Principato, F., Turchetta, A. & Rizzoni, G., Jun 1996, In : Nephron. 73, 2, p. 201-206 6 p.

Research output: Contribution to journalArticle

Abnormal intraventricular flow patterns in left ventricular dysfunction determined by color Doppler study

Pennestri', F., Biasucci, L. M., Rinelli, G., Mongiardo, R., Lombardo, A., Rossi, E., Amico, C. M., Aquilina, O. & Loperfido, F., 1992, In : American Heart Journal. 124, 4, p. 966-974 9 p.

Research output: Contribution to journalArticle

Abnormal intrinsic esophageal innervation in congenital diaphragmatic hernia: a likely cause of motor dysfunction

Pederiva, F., Rodriguez, J. I., Ruiz-Bravo, E., Martinez, L. & Tovar, J. A., Mar 2009, In : Journal of Pediatric Surgery. 44, 3, p. 496-499 4 p.

Research output: Contribution to journalArticle

Abnormalities in the expression of β–spectrin in duchenne muscular dystrophy

Minetti, C., Tanji, K., Rippa, P. G., Morreale, G., Cordone, C. & Bonilla, E., 1994, In : Neurology. 44, 6, p. 1149-1153 5 p.

Research output: Contribution to journalArticle

Abnormalities of erythrocyte glycoconjugates are identical in two families with congenital dyserythropoietic anemia type II with different chromosomal localizations of the disease gene

Zdebska, E., Iolascon, A., Spychalska, J., Perrotta, S., Lanzara, C., Smolenska-Sym, G. & Koscielak, J., Mar 2007, In : Haematologica. 92, 3, p. 427-428 2 p.

Research output: Contribution to journalArticle

Abnormalities of Na/K ATPase in migraine with aura

Scarrone, S., Podestà, M., Cupello, A., Finocchi, C., Frassoni, F., Gandolfo, C. & Balestrino, M., Feb 2007, In : Cephalalgia. 27, 2, p. 128-132 5 p.

Research output: Contribution to journalArticle

Abnormalities of somatosensory and motor evoked potentials in adrenomyeloneuropathy: Comparison with magnetic resonance imaging and clinical findings

Restuccia, D., Di Lazzaro, V., Valeriani, M., Oliviero, A., Le Pera, D., Barba, C., Cappa, M., Bertini, E. & Tonali, P., 1997, In : Muscle and Nerve. 20, 10, p. 1249-1257 9 p.

Research output: Contribution to journalArticle

Abnormalities of the contingent negative variation in Huntington's disease: Correlations with clinical features

de Tommaso, M., Difruscolo, O., Sciruicchio, V., Specchio, N. & Livrea, P., Mar 15 2007, In : Journal of the Neurological Sciences. 254, 1-2, p. 84-89 6 p.

Research output: Contribution to journalArticle

Abnormal neuronal migration defect in the severe variant subtype of Adams-Oliver syndrome

Brancati, F., Garaci, F. G., Mingarelli, R. & Dallapiccola, B., Jun 15 2008, In : American Journal of Medical Genetics, Part A. 146, 12, p. 1622-1623 2 p.

Research output: Contribution to journalArticle

Abnormal or delayed development of the posterior membranous area of the brain: Anatomy, ultrasound diagnosis, natural history and outcome of Blake's pouch cyst in the fetus

Paladini, D., Quarantelli, M., Pastore, G., Sorrentino, M., Sglavo, G. & Nappi, C., Mar 2012, In : Ultrasound in Obstetrics and Gynecology. 39, 3, p. 279-287 9 p.

Research output: Contribution to journalArticle

Abnormal parieto-motor connectivity in Tuberous Sclerosis Complex

D'Argenzio, L., Koch, G., Bombardieri, R., Mori, F., Moavero, R., Centonze, D. & Curatolo, P., Nov 2009, In : Epilepsy Research. 87, 1, p. 102-105 4 p.

Research output: Contribution to journalArticle

Abnormal processing of the nociceptive input in Parkinson's disease: A study with CO2 laser evoked potentials

Tinazzi, M., Del Vesco, C., Defazio, G., Fincati, E., Smania, N., Moretto, G., Fiaschi, A., Le Pera, D. & Valeriani, M., May 2008, In : Pain. 136, 1-2, p. 117-124 8 p.

Research output: Contribution to journalArticle

Abnormal production of the tumor necrosis factor inhibitor etanercept and clinical efficacy of tumor in a patient with PAPA syndrome

Cortis, E., De Benedetti, F., Insalaco, A., Cioschi, S., Muratori, F., D'Urbano, L. E. & Ugazio, A. G., Dec 2004, In : Journal of Pediatrics. 145, 6, p. 851-855 5 p.

Research output: Contribution to journalArticle

Abnormal properties of skin fibroblasts from patients with breast cancer

Azzarone, B., Mareel, M., Billard, C., Scemama, P., Chaponnier, C. & Macieira-Coelho, A., 1984, In : International Journal of Cancer. 33, 6, p. 759-764 6 p.

Research output: Contribution to journalArticle

Abnormal regulation of interleukin 6 in systemic juvenile idiopathic arthritis

Pignatti, P., Vivarelli, M., Meazza, C., Rizzolo, M. G., Martini, A. & De Benedetti, F., 2001, In : Journal of Rheumatology. 28, 7, p. 1670-1676 7 p.

Research output: Contribution to journalArticle

Abnormal RNA expression of 11p15 imprinted genes and kidney developmental genes in Wilms' tumor

Schwienbacher, C., Angioni, A., Scelfo, R., Veronese, A., Calin, G. A., Massazza, G., Hatada, I., Barbanti-Brodano, G. & Negrini, M., Mar 15 2000, In : Cancer Research. 60, 6, p. 1521-1525 5 p.

Research output: Contribution to journalArticle

Abnormal vascular smooth muscle cell proliferation in sural nerve biopsy from a patient with sensorimotor axonal neuropathy

Luigetti, M., Conte, A., Madia, F., Modoni, A., Montano, N., Lauriola, L., Tasca, G., Del Grande, A., Tonali, P. A. & Sabatelli, M., Apr 2011, In : Neuropathology. 31, 2, p. 197-198 2 p.

Research output: Contribution to journalArticle

Abo compatibility and acute graft-versus-host disease following allogeneic bone marrow transplantation

Bacigalupo, A., Van Lint, M. T., Occhini, D., Margiocco, M., Ferrari, G., Pittaluga, P. A., Frassoni, F., Peralvo, J., Lercari, G., Carubia, F. & Marmont, A. M., 1988, In : Transplantation. 45, 6, p. 1091-1094 4 p.

Research output: Contribution to journalArticle

ABO-incompatible orthotopic liver allografting in urgent indications

Reding, R., Veyckemans, F., De Ville de Goyet, J., De Hemptinne, B., Carlier, M., Van Obbergh, L., Moulin, D., Reynaert, M., Latinne, D., Vraux, H., Jamart, J., Rahier, J. & Otte, J. B., 1992, In : Surgery Gynecology and Obstetrics. 174, 1, p. 59-64 6 p.

Research output: Contribution to journalArticle

A boost of CD34+-selected peripheral blood cells without further conditioning in patients with poor graft function following allogeneic stem cell transplantation

Larocca, A., Piaggio, G., Podestà, M., Pitto, A., Bruno, B., Di Grazia, C., Gualandi, F., Occhini, D., Raiola, A. M., Dominietto, A., Bregante, S., Lamparelli, T., Tedone, E., Oneto, R., Frassoni, F., Van Lint, M. T., Pogliani, E. & Bacigalupo, A., Jul 2006, In : Haematologica. 91, 7, p. 935-940 6 p.

Research output: Contribution to journalArticle

ABORD IMMUNOLOGIQUE DE L'ARTHRITE CHRONIQUE JUVENILE

Translated title of the contribution: Immunological approach to juvenile rheumatoid arthritisMartini, A., 1989, In : Semaine des Hopitaux. 65, 7, p. 359-362 4 p.

Research output: Contribution to journalArticle