MARCONI, CATERINA
MARCONI, CATERINA
DIPARTIMENTO DI SCIENZE MEDICHE E CHIRURGICHE
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup
2023 Marconi, Caterina; Pecci, Alessandro; Palombo, Flavia; Melazzini, Federica; Bottega, Roberta; Nardi, Elena; Bozzi, Valeria; Faleschini, Michela; Barozzi, Serena; Giangregorio, Tania; Magini, Pamela; Balduini, Carlo L; Savoia, Anna; Seri, Marco; Noris, Patrizia; Pippucci, Tommaso
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy
2022 Gozzelino L.; Kochlamazashvili G.; Baldassari S.; Mackintosh A.I.; Licchetta L.; Iovino E.; Liu Y.-C.; Bennett C.A.; Bennett M.F.; Damiano J.A.; Zsurka G.; Marconi C.; Giangregorio T.; Magini P.; Kuijpers M.; Maritzen T.; Norata G.D.; Baulac S.; Canafoglia L.; Seri M.; Tinuper P.; Scheffer I.E.; Bahlo M.; Berkovic S.F.; Hildebrand M.S.; Kunz W.S.; Giordano L.; Bisulli F.; Martini M.; Haucke V.; Hirsch E.; Pippucci T.
Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation
2022 Faleschini, Michela; Papa, Nicole; Morel-Kopp, Marie-Christine; Marconi, Caterina; Giangregorio, Tania; Melazzini, Federica; Bozzi, Valeria; Seri, Marco; Noris, Patrizia; Pecci, Alessandro; Savoia, Anna; Bottega, Roberta
Pathogenetic and clinical study of a patient with thrombocytopenia due to the p.E527K gain-of-function variant of SRC
2021 Barozzi S.; Di Buduo C.A.; Marconi C.; Bozzi V.; Seri M.; Romano F.; Balduini A.; Pecci A.
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East
2020 Palombo F.; Graziano C.; Al Wardy N.; Nouri N.; Marconi C.; Magini P.; Severi G.; La Morgia C.; Cantalupo G.; Cordelli D.M.; Gangarossa S.; Al Kindi M.N.; Al Khabouri M.; Salehi M.; Giorgio E.; Brusco A.; Pisani F.; Romeo G.; Carelli V.; Pippucci T.; Seri M.
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies
2019 Pippucci, Tommaso; Licchetta, Laura; Baldassari, Sara; Marconi, Caterina; De Luise, Monica; Myers, Candace; Nardi, Elena; Provini, Federica; Cameli, Cinzia; Minardi, Raffaella; Bacchelli, Elena; Giordano, Lucio; Crichiutti, Giovanni; d'Orsi, Giuseppe; Seri, Marco; Gasparre, Giuseppe; Mefford, Heather C.; Tinuper, Paolo; Bisulli, Francesca; Santucci, Margherita
Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia
2019 Marconi, Caterina; Di Buduo, Christian A; LeVine, Kellie; Barozzi, Serena; Faleschini, Michela; Bozzi, Valeria; Palombo, Flavia; McKinstry, Spencer; Lassandro, Giuseppe; Giordano, Paola; Noris, Patrizia; Balduini, Carlo L; Savoia, Anna; Balduini, Alessandra; Pippucci, Tommaso; Seri, Marco; Katsanis, Nicholas; Pecci, Alessandro
A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene
2018 Noris, Patrizia; Marconi, Caterina; De Rocco, Daniela; Melazzini, Federica; Pippucci, Tommaso; Loffredo, Giuseppe; Giangregorio, Tania; Pecci, Alessandro; Seri, Marco; Savoia, Anna
ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia
2018 Faleschini, Michela; Melazzini, Federica; Marconi, Caterina; Giangregorio, Tania; Pippucci, Tommaso; Cigalini, Elena; Pecci, Alessandro; Bottega, Roberta; Ramenghi, Ugo; Siitonen, Timo; Seri, Marco; Pastore, Annalisa; Savoia, Anna; Noris, Patrizia
5′UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia
2017 Marconi, Caterina; Canobbio, Ilaria; Bozzi, Valeria; Pippucci, Tommaso; Simonetti, Giorgia; Melazzini, Federica; Angori, Silvia; Martinelli, Giovanni; Saglio, Giuseppe; Torti, Mauro; Pastan, Ira; Seri, Marco; Pecci, Alessandro
Mutations of RUNX1 in families with inherited thrombocytopenia
2017 De Rocco, Daniela; Melazzini, Federica; Marconi, Caterina; Pecci, Alessandro; Bottega, Roberta; Gnan, Chiara; Palombo, Flavia; Giordano, Paola; Coccioli, Maria Susanna; Glembotsky, Ana C.; Heller, Paula G.; Seri, Marco; Savoia, Anna; Noris, Patrizia
Search for genetic factors in bicuspid aortic valve disease: ACTA2 mutations do not play a major role
2017 Tortora, Giada; Anita, Wischmeijer; Berretta, Paolo; Alfonsi, Jacopo; Di Marco, Luca; Barbieri, Andrea; Marconi, Caterina; Isidori, Federica; Rossi, Cesare; Leone, Ornella; Di Bartolomeo, Roberto; Seri, Marco; Pacini, Davide
Clinical and pathogenetic features of ETV6 related thrombocytopenia with predisposition to acute lymphoblastic leukemia
2016 Melazzini, Federica; Palombo, Flavia; Balduini, Alessandra; De Rocco, Daniela; Marconi, Caterina; Noris, Patrizia; Gnan, Chiara; Pippucci, Tommaso; Bozzi, Valeria; Faleschini, Michela; Barozzi, Serena; Doubek, Michael; Di Buduo, Christian A; Stano Kozubik, Katerina; Radova, Lenka; Loffredo, Giuseppe; Pospisilova, Sarka; Alfano, Caterina; Seri, Marco; Balduini, Carlo L; Pecci, Alessandro; Savoia, Anna
SLFN14-related thrombocytopenia: Identification within a large series of patients with inherited thrombocytopenia
2016 Marconi, Caterina; Di Buduo, Christian A.; Barozzi, Serena; Palombo, Flavia; Pardini, Simonetta; Zaninetti, Carlo; Pippucci, Tommaso; Noris, Patrizia; Balduini, Alessandra; Seri, Marco; Pecci, Alessandro
ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization.
2015 Bottega R;Marconi C;Faleschini M;Baj G;Cagioni C;Pecci A;Pippucci T;Ramenghi U;Pardini S;Ngu L;Baronci C;Kunishima S;Balduini CL;Seri M;Savoia A;Noris P
Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia.
2014 Noris P;Schlegel N;Klersy C;Heller PG;Civaschi E;Pujol-Moix N;Fabris F;Favier R;Gresele P;Latger-Cannard V;Cuker A;Nurden P;Greinacher A;Cattaneo M;De Candia E;Pecci A;Hurtaud-Roux MF;Glembotsky AC;Muñiz-Diaz E;Randi ML;Trillot N;Bury L;Lecompte T;Marconi C;Savoia A;Balduini CL; Lanza F;
A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree.
2013 Marconi C; Brunamonti Binello P; Badiali G; Caci E; Cusano R; Garibaldi J; Pippucci T; Merlini A; Marchetti C; Rhoden KJ; Galietta LJ; Lalatta F; Balbi P; Seri M.
ANKRD26-related thrombocytopenia and myeloid malignancies.
2013 Noris P;Favier R;Alessi MC;Geddis AE;Kunishima S;Heller PG;Giordano P;Niederhoffer KY;Bussel JB;Podda GM;Vianelli N;Kersseboom R;Pecci A;Gnan C;Marconi C;Auvrignon A;Cohen W;Yu JC;Iguchi A;Miller Imahiyerobo A;Boehlen F;Ghalloussi D;De Rocco D;Magini P;Civaschi E;Biino G;Seri M;Savoia A;Balduini CL
Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis (SAPHO) syndrome: is PTPN22 involved?
2012 Colina M; Pippucci T; Moro MA; Marconi C; Magini P; Ciancio G; Romeo G; Trotta F; Seri M.
FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype.
2011 Garone C; Pippucci T; Cordelli DM; Zuntini R; Castegnaro G; Marconi C; Graziano C; Marchiani V; Verrotti A; Seri M; Franzoni E.