S
Stefano Giuseppe Caraffi
Researcher at Academy for Urban School Leadership
Publications - 40
Citations - 468
Stefano Giuseppe Caraffi is an academic researcher from Academy for Urban School Leadership. The author has contributed to research in topics: Medicine & Exome sequencing. The author has an hindex of 9, co-authored 33 publications receiving 328 citations. Previous affiliations of Stefano Giuseppe Caraffi include University of Bologna & Boston Children's Hospital.
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Journal ArticleDOI
Mutations of the Igβ gene cause agammaglobulinemia in man
Simona Ferrari,Vassilios Lougaris,Stefano Giuseppe Caraffi,Roberta Zuntini,Jianying Yang,Annarosa Soresina,Antonella Meini,Giantonio Cazzola,Cesare Rossi,Michael Reth,Alessandro Plebani +10 more
TL;DR: Results indicate that mutations in Igβ can cause agammaglobulinemia in man, and the essential role of Igβ for human B cell development was demonstrated by immunofluorescence analysis of the patient's bone marrow.
Journal ArticleDOI
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.
Ivan Ivanovski,Ivan Ivanovski,Olivera Djuric,Olivera Djuric,Stefano Giuseppe Caraffi,Daniela Santodirocco,Marzia Pollazzon,Simonetta Rosato,Duccio Maria Cordelli,Ebtesam M. Abdalla,Patrizia Accorsi,Margaret P. Adam,Paola Francesca Ajmone,Magdalena Badura-Stronka,Chiara Baldo,Maddalena Baldi,Allan Bayat,Stefania Bigoni,Federico Bonvicini,Federico Bonvicini,Jeroen Breckpot,Bert Callewaert,Guido Cocchi,Goran Cuturilo,Goran Cuturilo,Daniele De Brasi,Koenraad Devriendt,Mary Beth Dinulos,Tina Duelund Hjortshøj,Roberta Epifanio,Francesca Faravelli,Agata Fiumara,Debora Formisano,Lucio Giordano,Marina Grasso,Sabine Grønborg,Alessandro Iodice,Lorenzo Iughetti,Vladimir Kuburovic,Anna Kutkowska-Kazmierczak,Didier Lacombe,Caterina Lo Rizzo,Anna Luchetti,Baris Malbora,Isabella Mammi,Francesca Mari,Giulia Montorsi,Giulia Montorsi,Sébastien Moutton,Rikke S. Møller,Petra Muschke,Jens Erik Klint Nielsen,Ewa Obersztyn,Chiara Pantaleoni,Alessandro Pellicciari,Maria Antonietta Pisanti,Igor Prpić,Maria Luisa Poch-Olive,Federico Raviglione,Alessandra Renieri,Emilia Ricci,Francesca Rivieri,Gijs W. E. Santen,Salvatore Savasta,Gioacchino Scarano,Ina Schanze,Angelo Selicorni,Margherita Silengo,Robert Smigiel,Luigina Spaccini,Giovanni Sorge,Krzysztof Szczaluba,Luigi Tarani,Luis G. Tone,Annick Toutain,Aurélien Trimouille,Elvis rci Te Valera,Samantha A. Schrier Vergano,Samantha A. Schrier Vergano,Nicoletta Zanotta,Martin Zenker,Andrea Conidi,Marcella Zollino,Anita Rauch,Christiane Zweier,Livia Garavelli +85 more
TL;DR: Knowledge of the phenotypic spectrum of MWS and its correlation with the genotype will improve its detection rate and the prediction of its features, thus improving patient care, and derive suggestions for patient management.
Journal ArticleDOI
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients
Livia Garavelli,Ivan Ivanovski,Stefano Giuseppe Caraffi,Daniela Santodirocco,Marzia Pollazzon,Duccio Maria Cordelli,Ebtesam M. Abdalla,Ebtesam M. Abdalla,Patrizia Accorsi,Margaret P. Adam,Chiara Baldo,Allan Bayat,Elga Fabia Belligni,Federico Bonvicini,Jeroen Breckpot,Bert Callewaert,Guido Cocchi,Goran Cuturilo,Goran Cuturilo,Koenraad Devriendt,Mary Beth Dinulos,Olivera Djuric,Roberta Epifanio,Francesca Faravelli,Debora Formisano,Lucio Giordano,Marina Grasso,Sabine Grønborg,Alessandro Iodice,Lorenzo Iughetti,Didier Lacombe,Massimo Maggi,Baris Malbora,Isabella Mammi,Sébastien Moutton,Rikke S. Møller,Petra Muschke,Manuela Napoli,Chiara Pantaleoni,Rosario Pascarella,Alessandro Pellicciari,Maria Luisa Poch-Olive,Federico Raviglione,Francesca Rivieri,Carmela Russo,Salvatore Savasta,Gioacchino Scarano,Angelo Selicorni,Margherita Silengo,Giovanni Sorge,Luigi Tarani,Luis G. Tone,Annick Toutain,Aurélien Trimouille,Elvis Terci Valera,Samantha A. Schrier Vergano,Nicoletta Zanotta,Marcella Zollino,William B. Dobyns,Alex R. Paciorkowski +59 more
TL;DR: The spectrum of brain anomalies in MWS was delineated and ZEB2 variations leading to synthesis of a defective protein to be favorable for psychomotor development and some epilepsy features but also associated with corpus callosum agenesis.
Journal ArticleDOI
Human Cytomegalovirus DNA Polymerase Catalytic Subunit pUL54 Possesses Independently Acting Nuclear Localization and ppUL44 Binding Motifs
Gualtiero Alvisi,Gualtiero Alvisi,Alessandro Ripalti,Apollinaire Ngankeu,Apollinaire Ngankeu,Maila Giannandrea,Stefano Giuseppe Caraffi,Manisha M Dias,David A. Jans +8 more
TL;DR: Two distinct sites within the HCMV DNA polymerase are identified, which represent potential therapeutic targets and establishes the molecular basis of UL54 nuclear import, which is identified and established.
Journal ArticleDOI
Abnormalities of Thymic Stroma may Contribute to Immune Dysregulation in Murine Models of Leaky Severe Combined Immunodeficiency
Francesca Rucci,Pietro Luigi Poliani,Stefano Giuseppe Caraffi,Tiziana Paganini,Elena Fontana,Silvia Giliani,Frederick W. Alt,Luigi D. Notarangelo +7 more
TL;DR: Data indicate that hypomorphic defects in T cell development may cause defective lymphostromal cross-talk and impinge on thymic stromal cells maturation, and thus favor immune dysregulation.