MARCONI, CATERINA
MARCONI, CATERINA
DIPARTIMENTO DI SCIENZE MEDICHE E CHIRURGICHE
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
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
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.
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
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;
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
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.
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
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
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
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
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.
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
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.
2011 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.
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2
2011 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
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
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.
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
| 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).pdf; 13045_2016_382_MOESM1_ESM.docx |
| 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 | - |
| 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; Lanza F; | 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 | s00439-020-02187-7.pdf; Palombo_2020_AM.pdf |
| 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.pdf; acn3722-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 | awac082.pdf; awac082_supplementary_data.zip |
| Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation | 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 | 2022-01-01 | HAEMATOLOGICA | - | 1.01 Articolo in rivista | 10150-Article Text-74095-2-10-20211228.pdf; 2020_267328_FALESCHINI_SUPPL.pdf |
| Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup | Marconi, Caterina; Pecci, Alessandro; Palombo, Flavia; Melazzini, Federica; Bottega, Roberta; Nar...di, Elena; Bozzi, Valeria; Faleschini, Michela; Barozzi, Serena; Giangregorio, Tania; Magini, Pamela; Balduini, Carlo L; Savoia, Anna; Seri, Marco; Noris, Patrizia; Pippucci, Tommaso | 2023-01-01 | HAEMATOLOGICA | - | 1.01 Articolo in rivista | 10900-Article Text-79827-2-10-20230629.pdf; 10900.zip |
| 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 | - |
| 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 | 10032-Article Text-73322-2-10-20210222.pdf; 2020_268516-Disclosures_Contributions.pdf; 2020_268516_BAROZZI_SUPPL.pdf |
| 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 | - |