MARCONI, CATERINA

MARCONI, CATERINA  

DIPARTIMENTO DI SCIENZE MEDICHE E CHIRURGICHE  

Mostra records
Risultati 1 - 20 di 20 (tempo di esecuzione: 0.093 secondi).
Titolo Autore(i) Anno Periodico Editore Tipo File
5′UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia Marconi, Caterina; Canobbio, Ilaria; Bozzi, Valeria; Pippucci, Tommaso; Simonetti, Giorgia; Melaz...zini, Federica; Angori, Silvia; Martinelli, Giovanni; Saglio, Giuseppe; Torti, Mauro; Pastan, Ira; Seri, Marco; Pecci, Alessandro 2017-01-01 JOURNAL OF HEMATOLOGY & ONCOLOGY - 1.01 Articolo in rivista document(2).pdf13045_2016_382_MOESM1_ESM.docx
A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree. 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. 2013-01-01 EUROPEAN JOURNAL OF HUMAN GENETICS - 1.01 Articolo in rivista -
ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia Faleschini, Michela; Melazzini, Federica; Marconi, Caterina; Giangregorio, Tania; Pippucci, Tomma...so; Cigalini, Elena; Pecci, Alessandro; Bottega, Roberta; Ramenghi, Ugo; Siitonen, Timo; Seri, Marco; Pastore, Annalisa; Savoia, Anna; Noris, Patrizia 2018-01-01 BRITISH JOURNAL OF HAEMATOLOGY - 1.01 Articolo in rivista -
ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization. Bottega R;Marconi C;Faleschini M;Baj G;Cagioni C;Pecci A;Pippucci T;Ramenghi U;Pardini S;Ngu L;Ba...ronci C;Kunishima S;Balduini CL;Seri M;Savoia A;Noris P 2015-01-01 BLOOD - 1.01 Articolo in rivista -
Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia. 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 2014-01-01 HAEMATOLOGICA - 1.01 Articolo in rivista -
ANKRD26-related thrombocytopenia and myeloid malignancies. Noris P;Favier R;Alessi MC;Geddis AE;Kunishima S;Heller PG;Giordano P;Niederhoffer KY;Bussel JB;P...odda 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 2013-01-01 BLOOD - 1.01 Articolo in rivista -
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East Palombo F.; Graziano C.; Al Wardy N.; Nouri N.; Marconi C.; Magini P.; Severi G.; La Morgia C.; C...antalupo 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. 2020-01-01 HUMAN GENETICS - 1.01 Articolo in rivista -
Clinical and pathogenetic features of ETV6 related thrombocytopenia with predisposition to acute lymphoblastic leukemia 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 2016-01-01 HAEMATOLOGICA - 1.01 Articolo in rivista 7877-Article Text-51972-1-10-20200724.pdf
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies 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 2019-01-01 ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY - 1.01 Articolo in rivista acn3.722.pdfacn3722-sup-0001-supinfo.docx
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy 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. 2022-01-01 BRAIN - 1.01 Articolo in rivista -
FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype. Garone C; Pippucci T; Cordelli DM; Zuntini R; Castegnaro G; Marconi C; Graziano C; Marchiani V; V...errotti A; Seri M; Franzoni E. 2011-01-01 DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY - 1.01 Articolo in rivista -
Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia Marconi, Caterina; Di Buduo, Christian A; LeVine, Kellie; Barozzi, Serena; Faleschini, Michela; B...ozzi, 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 2019-01-01 BLOOD - 1.01 Articolo in rivista -
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. Noris P; Perrotta S; Seri M; Pecci A; Gnan C; Loffredo G; Pujol-Moix N; Zecca M; Scognamiglio F; ...De Rocco D; Punzo F; Melazzini F; Scianguetta S; Casale M; Marconi C; Pippucci T; Amendola G; Notarangelo LD; Klersy C; Civaschi E; Balduini CL; Savoia A. 2011-01-01 BLOOD - 1.01 Articolo in rivista -
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2 Pippucci T;Savoia A;Perrotta S;Pujol-Moix N;Noris P;Castegnaro G;Pecci A;Gnan C;Punzo F;Marconi C...;Gherardi S;Loffredo G;De Rocco D;Scianguetta S;Barozzi S;Magini P;Bozzi V;Dezzani L;Di Stazio M;Ferraro M;Perini G;Seri M;Balduini CL 2011-01-01 AMERICAN JOURNAL OF HUMAN GENETICS - 1.01 Articolo in rivista -
Mutations of RUNX1 in families with inherited thrombocytopenia De Rocco, Daniela; Melazzini, Federica; Marconi, Caterina; Pecci, Alessandro; Bottega, Roberta; G...nan, Chiara; Palombo, Flavia; Giordano, Paola; Coccioli, Maria Susanna; Glembotsky, Ana C.; Heller, Paula G.; Seri, Marco; Savoia, Anna; Noris, Patrizia 2017-01-01 AMERICAN JOURNAL OF HEMATOLOGY - 1.01 Articolo in rivista -
A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene Noris, Patrizia; Marconi, Caterina; De Rocco, Daniela; Melazzini, Federica; Pippucci, Tommaso; Lo...ffredo, Giuseppe; Giangregorio, Tania; Pecci, Alessandro; Seri, Marco; Savoia, Anna 2018-01-01 BRITISH JOURNAL OF HAEMATOLOGY - 1.01 Articolo in rivista -
Pathogenetic and clinical study of a patient with thrombocytopenia due to the p.E527K gain-of-function variant of SRC Barozzi S.; Di Buduo C.A.; Marconi C.; Bozzi V.; Seri M.; Romano F.; Balduini A.; Pecci A. 2021-01-01 HAEMATOLOGICA - 1.01 Articolo in rivista -
Search for genetic factors in bicuspid aortic valve disease: ACTA2 mutations do not play a major role Tortora, Giada; Anita, Wischmeijer; Berretta, Paolo; Alfonsi, Jacopo; Di Marco, Luca; Barbieri, A...ndrea; Marconi, Caterina; Isidori, Federica; Rossi, Cesare; Leone, Ornella; Di Bartolomeo, Roberto; Seri, Marco; Pacini, Davide 2017-01-01 INTERACTIVE CARDIOVASCULAR AND THORACIC SURGERY - 1.01 Articolo in rivista -
SLFN14-related thrombocytopenia: Identification within a large series of patients with inherited thrombocytopenia Marconi, Caterina; Di Buduo, Christian A.; Barozzi, Serena; Palombo, Flavia; Pardini, Simonetta; ...Zaninetti, Carlo; Pippucci, Tommaso; Noris, Patrizia; Balduini, Alessandra; Seri, Marco; Pecci, Alessandro 2016-01-01 THROMBOSIS AND HAEMOSTASIS - 1.04 Replica / breve intervento (e simili) -
Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis (SAPHO) syndrome: is PTPN22 involved? Colina M; Pippucci T; Moro MA; Marconi C; Magini P; Ciancio G; Romeo G; Trotta F; Seri M. 2012-01-01 CLINICAL AND EXPERIMENTAL RHEUMATOLOGY - 1.01 Articolo in rivista -