C
Claudia Cesaretti
Researcher at Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
Publications - 38
Citations - 692
Claudia Cesaretti is an academic researcher from Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico. The author has contributed to research in topics: Thalassemia & Medicine. The author has an hindex of 11, co-authored 33 publications receiving 579 citations. Previous affiliations of Claudia Cesaretti include University of Milan & Boston Children's Hospital.
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Journal ArticleDOI
Splenectomy and thrombosis: the case of thalassemia intermedia.
Ali T. Taher,Khaled M. Musallam,Mehran Karimi,Amal El-Beshlawy,Khawla Belhoul,Shahina Daar,Mohamed-SalahEldin Saned,Claudia Cesaretti,Maria Domenica Cappellini +8 more
TL;DR: Mannucci et al. as discussed by the authors studied the clinical and laboratory characteristics of patients who eventually develop overt thromboembolic events (TEE) are poorly studied, and found that splenectomized patients who will develop TEE may be identified early on by high NRBC and platelet counts, evidence of pulmonary hypertension (PHT), and transfusion naivety.
Journal ArticleDOI
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
Natalie D. Shaw,Natalie D. Shaw,Harrison Brand,Harrison Brand,Zachary A. Kupchinsky,Hemant Bengani,Lacey Plummer,Takako I. Jones,Serkan Erdin,Serkan Erdin,Kathleen A. Williamson,Joe Rainger,Alexei Stortchevoi,Kaitlin E. Samocha,Kaitlin E. Samocha,Benjamin Currall,Donncha S. Dunican,Ryan L. Collins,Jason R. Willer,Angela Lek,Monkol Lek,Monkol Lek,Malik Nassan,Shahrin Pereira,Tammy Kammin,Diane Lucente,Alexandra Silva,Catarina M. Seabra,Catarina M. Seabra,Colby Chiang,Yu An,Morad Ansari,Jacqueline K. Rainger,Shelagh Joss,Jill Clayton Smith,Margaret F. Lippincott,Sylvia S. Singh,Nirav J. Patel,Jenny Jing,Jennifer R. Law,Nalton F. Ferraro,Alain Verloes,Anita Rauch,Katharina Steindl,Markus Zweier,Ianina Scheer,Daisuke Sato,Nobuhiko Okamoto,Christina Jacobsen,Jeanie B. Tryggestad,Steven D. Chernausek,Lisa A. Schimmenti,Benjamin Brasseur,Claudia Cesaretti,José Elías García-Ortiz,Tatiana Pineda Buitrago,Orlando Perez Silva,Jodi D. Hoffman,Wolfgang Mühlbauer,Klaus W. Ruprecht,Bart Loeys,Masato Shino,Angela M. Kaindl,Chie Hee Cho,Cynthia C. Morton,Cynthia C. Morton,Richard R. Meehan,Veronica van Heyningen,Eric C. Liao,Ravikumar Balasubramanian,Janet E. Hall,Stephanie B. Seminara,Stephanie B. Seminara,Daniel G. MacArthur,Steven A. Moore,Steven A. Moore,Koh-ichiro Yoshiura,James F. Gusella,Joseph A. Marsh,John Graham,Angela E. Lin,Nicholas Katsanis,Peter L. Jones,William F. Crowley,Erica E. Davis,David R. FitzPatrick,Michael E. Talkowski,Michael E. Talkowski,Michael E. Talkowski +88 more
TL;DR: In this article, the authors found that SMCHD1 mutations cause facioscapulohumeral muscular dystrophy type 2 (FSHD2) via a trans-acting loss-of-function epigenetic mechanism.
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome (vol 49, pg 238, 2017)
Natalie D. Shaw,Harrison Brand,Zachary A. Kupchinsky,Hemant Bengani,Lacey Plummer,Takako I. Jones,Serkan Erdin,Kathleen A. Williamson,Joe Rainger,Alexei Stortchevoi,Kaitlin E. Samocha,Benjamin Currall,Donncha S. Dunican,Ryan L. Collins,Willer,Angela Lek,Monkol Lek,Malik Nassan,Shahrin Pereira,Tammy Kammin,Diane Lucente,A Silva,Catarina M. Seabra,Colby Chiang,Yu An,Morad Ansari,Jacqueline K. Rainger,Shelagh Joss,JC Smith,Margaret F. Lippincott,Shilpi Singh,Nirav J. Patel,Jenny Jing,Law,Nalton F. Ferraro,Alain Verloes,Anita Rauch,Katharina Steindl,Markus Zweier,Ianina Scheer,Daisuke Sato,Nobuhiko Okamoto,Christina Jacobsen,Jeanie B. Tryggestad,Steven D. Chernausek,Lisa A. Schimmenti,Benjamin Brasseur,Claudia Cesaretti,José Elías García-Ortiz,Tatiana Pineda Buitrago,Orlando Perez Silva,Jodi D. Hoffman,Wolfgang Mühlbauer,KW Ruprecht,Bart Loeys,Masato Shino,Angela M. Kaindl,C-H Cho,Cynthia C. Morton,Richard R. Meehan,van Heyningen,Eric C. Liao,Ravikumar Balasubramanian,Janet E. Hall,Stephanie B. Seminara,Daniel G. MacArthur,Steven A. Moore,K-I Yoshiura,James F. Gusella,Joseph A. Marsh,John M. Graham,Ae Lin,Nicholas Katsanis,Peter L. Jones,William F. Crowley,Erica E. Davis,FitzPatrick,Michael E. Talkowski +77 more
TL;DR: Mutations in SMCHD1 contribute to distinct phenotypic spectra, from craniofacial malformation and reproductive disorders to muscular dystrophy, which are speculated to be consistent with oligogenic mechanisms resulting in pleiotropic outcomes.
Journal ArticleDOI
Absence of cardiac siderosis despite hepatic iron overload in Italian patients with thalassemia intermedia: an MRI T2* study
Alberto Roghi,Maria Domenica Cappellini,John C. Wood,Khaled M. Musallam,Pedrotti Patrizia,Maria Rosaria Fasulo,Claudia Cesaretti,Ali T. Taher +7 more
TL;DR: Patients with TI show absence of cardiac iron overload even if hepatic iron accumulation is significant, and there was no statistically significant correlation between cardiac T2* values and liver iron concentration, serum ferritin, or any patient, disease, or treatment-related parameters.
Journal ArticleDOI
Levels of growth differentiation factor-15 are high and correlate with clinical severity in transfusion-independent patients with β thalassemia intermedia.
Khaled M. Musallam,Ali T. Taher,Lorena Duca,Claudia Cesaretti,Racha Halawi,Maria Domenica Cappellini +5 more
TL;DR: GDF-15 levels were significantly higher in splenectomized compared to non-splenECTomized patients and correlated with anemia, markers of iron overload, and a pre-defined clinical severity score.