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Mostrati risultati da 1 a 20 di 27
Titolo Data di pubblicazione Autori File
A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defect. 1-gen-2010 DE ROCCO, DANIELABIANCO, ANNA MONICA ROSARIASAVOIA, ANNA +
Expression and association data strongly support JARID2 involvement in nonsyndromic cleft lip with or without cleft palate. 1-gen-2010 SAVOIA, ANNABIANCO, ANNA MONICA ROSARIA +
Family history in early-onset inflammatory bowel disease 1-gen-2013 BIANCO, ANNA MONICA ROSARIAZANIN, VALENTINAMARTELOSSI, STEFANOMarcuzzi, AnnalisaCROVELLA, SERGIO +
F402L variant in NLRP12 in subjects with undiagnosed periodic fevers and in healthy controls 1-gen-2014 VUCH, JOSEFATHANASAKIS, EMMANOUILSEVERINI, GIOVANNI MARIACROVELLA, SERGIOBIANCO, ANNA MONICA ROSARIATOMMASINI, ALBERTO +
Curcumin and inflammatory bowel disease: Potential andlimits of innovative treatments 1-gen-2014 MARCUZZI, ANNALISATRICARICO, PAOLA MAURAZANIN, VALENTINAGIRARDELLI, MARTINABIANCO, ANNA MONICA ROSARIA +
Fever tree revisited: From malaria to autoinflammatory diseases 1-gen-2015 PASTORE, SERENAVUCH, JOSEFBIANCO, ANNA MONICA ROSARIATADDIO, ANDREATOMMASINI, ALBERTO
The diagnostic challenge of very early-onset enterocolitis in an infant with XIAP deficiency 1-gen-2015 GIRARDELLI, MARTINALOGANES, CLAUDIACROVELLA, SERGIOTOMMASINI, ALBERTOBIANCO, ANNA MONICA ROSARIA +
Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results. 1-gen-2015 BIANCO, ANNA MONICA ROSARIAFALETRA, FLAVIOVOZZI, DIEGOGIRARDELLI, MARTINATOMMASINI, ALBERTOZAULI, GIORGIOMARCUZZI, ANNALISA +
Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study 1-gen-2015 VUCH, JOSEFDE MARTINO, ELEONORABIANCO, ANNA MONICA ROSARIARONFANI, LUCAATHANASAKIS, EMMANOUILCROVELLA, SERGIOTADDIO, ANDREATOMMASINI, ALBERTO +
Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype 1-gen-2015 FALETRA, FLAVIOVOZZI, DiegoMARCUZZI, ANNALISAVALENCIC, ERICAPISCIANZ, ELISABIANCO, ANNA MONICA ROSARIAGIRARDELLI, MARTINALOGANES, CLAUDIATOMMASINI, ALBERTO +
Altered pattern of tumor necrosis factor-Alpha production in peripheral blood monocytes from Crohn's disease basic study 1-gen-2016 LOGANES, CLAUDIAPIN, ALESSIANAVIGLIO, SAMUELEGIRARDELLI, MARTINABIANCO, ANNA MONICA ROSARIAMARTELOSSI, STEFANOTOMMASINI, ALBERTOPISCIANZ, ELISA
Protective Role of BST2 Polymorphisms in Mother-to-Child Transmission of HIV-1 and Adult AIDS Progression 1-gen-2016 BIANCO, ANNA MONICA ROSARIAZUPIN, LUISAGIRARDELLI, MARTINASEGAT, LUDOVICACROVELLA, SERGIO +
Putative modifier genes in mevalonate kinase deficiency 1-gen-2016 MARCUZZI, ANNALISAVOZZI, DIEGOGIRARDELLI, MARTINATRICARICO, PAOLA MAURACROVELLA, SERGIOVUCH, JOSEFTOMMASINI, ALBERTOPISCIANZ, ELISABIANCO, ANNA MONICA ROSARIA +
Iron signature in asbestos-induced malignant pleural mesothelioma: A population-based autopsy study. 1-gen-2016 CROVELLA, SERGIOBIANCO, ANNA MONICA ROSARIAVUCH, JOSEFZUPIN, LUISATREVISAN, ELISACOSENZI, ALESSANDROZABUCCHI, GIULIANOBORELLI, VIOLETTA +
Type i interferon-mediated autoinflammation due to DNase II deficiency 1-gen-2017 Tesser, AlessandraVOLPI, STEFANOBianco, Anna MonicaFaletra, FlavioMarcuzzi, AnnalisaPastore, SerenaPiscianz, ElisaStocco, GabrieleTaddio, AndreaValencic, EricaVozzi, DiegoTommasini, Alberto +
Neither hereditary periodic fever nor periodic fever, aphthae, pharingitis, adenitis: Undifferentiated periodic fever in a tertiary pediatric center 1-gen-2018 DE PAULI, SILVIALega, SaraPastore, SerenaBianco, Anna Monica RosariaTommasini, AlbertoTaddio, Andrea +
Novel NOD2 Mutation in Early-Onset Inflammatory Bowel Phenotype 1-gen-2018 Girardelli M.Loganes C.Pin A.Decleva E.Vozzi D.Baj G.Tommasini A.Bianco A. M. +
The Challenge of Next Generation Sequencing in a Boy with Severe Mononucleosis and EBV-related Lymphoma 1-gen-2018 Verzegnassi F.Valencic E.Kiren V.Giurici N.Bianco A. M.Marcuzzi A.Vozzi D.Tommasini A.Faletra F.
Genetic profile of patients with early onset inflammatory bowel disease 1-gen-2018 Girardelli, MartinaPaolera, Sara DellaVuch, JosefTommasini, AlbertoMartelossi, StefanoCrovella, SergioBianco, Anna Monica +
Diagnostic approach to monogenic inflammatory bowel disease in clinical practice: a 10-year multi-centric experience 1-gen-2019 Lega, SPin, AGirardelli, MBianco, AMagazzù, GTommasini, ABramuzzo, M +
Mostrati risultati da 1 a 20 di 27
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