S
Simone Gangarossa
Researcher at University of Bologna
Publications - 7
Citations - 852
Simone Gangarossa is an academic researcher from University of Bologna. The author has contributed to research in topics: Fechtner syndrome & May–Hegglin anomaly. The author has an hindex of 5, co-authored 7 publications receiving 806 citations.
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Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.
Marco Seri,Roberto Cusano,Simone Gangarossa,Gianluca Caridi,Domenico Bordo,Lo Nigro C,Gian Marco Ghiggeri,Roberto Ravazzolo,Maria Savino,Del Vecchio M,Maria D'Apolito,Achille Iolascon,Leopoldo Zelante,Anna Savoia,Carlo L. Balduini,Patrizia Noris,Umberto Magrini,Simona Belletti,Karen E. Heath,Babcock M,Marc J. Glucksman,Elias Aliprandis,Nicola Bizzaro,Robert J. Desnick,John A. Martignetti +24 more
TL;DR: The results suggest that mutations in MYH9 result in three megakaryocyte/platelet/leukocyte syndromes and are important in the pathogenesis of sensorineural deafness, cataracts and nephritis.
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MYH9-Related Disease: May-Hegglin Anomaly, Sebastian Syndrome, Fechtner Syndrome, and Epstein Syndrome Are not Distinct Entities but Represent a Variable Expression of a Single Illness
Marco Seri,Alessandro Pecci,Filomena Di Bari,Roberto Cusano,Maria Savino,Emanuele Panza,Alessandra Nigro,Patrizia Noris,Simone Gangarossa,Bianca Rocca,Paolo Gresele,Nicola Bizzaro,Paola Malatesta,Pasi A. Koivisto,Ilaria Longo,Roberto Musso,Carmine Pecoraro,Achille Iolascon,Umberto Magrini,Juan Rodriguez Soriano,Alessandra Renieri,Gian Marco Ghiggeri,Roberto Ravazzolo,Carlo L. Balduini,Anna Savoia +24 more
TL;DR: The term “MHY9-related disease,” which better interprets the recent knowledge in this field and identifies all patients at risk of developing renal, hearing, or visual defects, is proposed.
Journal ArticleDOI
Genetics, clinical and pathological features of glomerulonephrites associated with mutations of nonmuscle myosin IIA (Fechtner syndrome)
Gian Marco Ghiggeri,Gianluca Caridi,Umberto Magrini,Adalberto Sessa,Anna Savoia,Marco Seri,Alessandro Pecci,Roberta Romagnoli,Simone Gangarossa,Patrizia Noris,Saverio Sartore,Vittorio Necchi,Roberto Ravazzolo,Carlo L. Balduini +13 more
TL;DR: This study indicates a major role for the NMMHC-IIA abnormality in the pathogenesis of leukocyte, platelet, and kidney defects in FTNS and characterized the haplotype of podocin and found cosegregation of one specific allele in the two patients with nephrotic syndrome, suggesting a relationship between Podocin features and proteinuria.
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Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders
Alessandro Pecci,Patrizia Noris,Rosangela Invernizzi,Anna Savoia,Marco Seri,Gian Marco Ghiggeri,Saverio Sartore,Simone Gangarossa,Nicola Bizzaro,Carlo L. Balduini +9 more
TL;DR: Immunocytochemistry for NMMHC‐A is a simple and sensitive method to detect pathological phenotypes of granulocytes and platelets in the diagnosis of MYH9‐related disorders and suggests that Döhle‐like bodies are due to the aggregation of NMM HC‐A in the cytoplasm.
Journal ArticleDOI
Localisation of the gene responsible for fechtner syndrome in a region <600 Kb on 22q11-q13.
Roberto Cusano,Simone Gangarossa,P Forabosco,Gianluca Caridi,Gian Marco Ghiggeri,Giovanna Russo,Achille Iolascon,Roberto Ravazzolo,Marco Seri +8 more
TL;DR: The genetic refinement of the Fechtner critical interval to a region less than 600 Kb is described by linkage analysis performed in a large Italian pedigree, which allowed the disease gene to be localised in a region containing only two non-recombinant markers.