Zobrazeno 1 - 10 of 20 pro vyhledávání: '"Valentina FERRADINI"'
1
Akademický článek
Case Report: Crossing a rugged road in a primary immune regulatory disorder
Autor: Mayla Sgrulletti, Cristina Cifaldi, Silvia Di Cesare, Barbara Kroegler, Elisabetta Del Duca, Valentina Ferradini, Simona Graziani, Mario Bengala, Gigliola Di Matteo, Viviana Moschese
Publikováno v: Frontiers in Pediatrics, Vol 10 (2023)
Over the last decades, Inborn Errors of Immunity (IEI) characterized by an immune dysregulatory picture, isolated or combined with infections, have been increasingly identified and referred as Primary Immune Regulatory Disorders (PIRD). PIRD diagnosi
Externí odkaz: https://doaj.org/article/40ecff1dcbd4493b9da2b7d397ebddfb
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4
Akademický článek
Novel X-Linked Inhibitor of Apoptosis Mutation in Very Early-Onset Inflammatory Bowel Disease Child Successfully Treated with HLA-Haploidentical Hemapoietic Stem Cells Transplant after Removal of αβ+ T and B Cells
Autor: Cristina Cifaldi, Maria Chiriaco, Gigliola Di Matteo, Silvia Di Cesare, Scarselli Alessia, Paola De Angelis, Francesca Rea, Giulia Angelino, Maria Pastore, Valentina Ferradini, Daria Pagliara, Caterina Cancrini, Paolo Rossi, Alice Bertaina, Andrea Finocchi
Publikováno v: Frontiers in Immunology, Vol 8 (2017)
Monogenic defects in genes related to primary immunodeficiencies can be responsible for inflammatory bowel disease (IBD). Mutations in the X-linked inhibitor of apoptosis (XIAP) gene have been described in several patients suffering from IBD and, in
Externí odkaz: https://doaj.org/article/bad1f302d2564a8aa197a76ac5604c75
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7
DSP-Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort
Autor: Francesca Di Lorenzo, Enrica Marchionni, Valentina Ferradini, Andrea Latini, Laura Pezzoli, Annamaria Martino, Fabiana Romeo, Annamaria Iorio, Stefano Bianchi, Maria Iascone, Leonardo Calò, Giuseppe Novelli, Ruggiero Mango, Federica Sangiuolo
Publikováno v: International Journal of Molecular Sciences
Volume 24
Issue 3
Pages: 2490
Variants in desmoplakin gene (DSP MIM *125647) have been usually associated with Arrhythmogenic Cardiomyopathy (ACM), or Dilated Cardiomyopathy (DCM) inherited in an autosomal dominant manner. A cohort of 18 probands, characterized as heterozygotes f
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7eb1fcb5e7bf95a629be6075a717c722
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8
Clinical Features of LMNA-Related Cardiomyopathy in 18 Patients and Characterization of Two Novel Variants
Autor: Ruggiero Mango, Claudia De Masi, Giovanni Parlapiano, Leonardo Calò, Valentina Ferradini, Francesco Fedele, Federica Sangiuolo, Giuseppe Novelli, Paola Spitalieri, Sara Mannucci, Annamaria Martino, Fabiana Romeo, Francesca Di Lorenzo, Michela Murdocca, Joseph Cosma
Publikováno v: Journal of Clinical Medicine
Volume 10
Issue 21
Journal of Clinical Medicine, Vol 10, Iss 5075, p 5075 (2021)
Dilated cardiomyopathy (DCM) refers to a spectrum of heterogeneous myocardial disorders characterized by ventricular dilation and depressed myocardial performance in the absence of hypertension, valvular, congenital, or ischemic heart disease. Mutati
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b84f4b2aeb9e942a467e9933f1987dc2
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9
Genetic and Epigenetic Factors of Takotsubo Syndrome: A Systematic Review
Autor: Davide Vacca, Federica Sangiuolo, Beatrice Belmonte, Ruggiero Mango, Letizia Scola, Giuseppe Novelli, Carmela Rita Balistreri, Valentina Ferradini
Publikováno v: International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 22, Iss 9875, p 9875 (2021)
Takotsubo syndrome (TTS), recognized as stress’s cardiomyopathy, or as left ventricular apical balloon syndrome in recent years, is a rare pathology, described for the first time by Japanese researchers in 1990. TTS is characterized by an interindi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87e703448e1ea4aed5ac22be028ed0f1
http://europepmc.org/articles/PMC8471495
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10
Genetic and Epigenetic Factors of Takotsubo Syndrome: a Systematic Review
Autor: Ruggiero Mango, Carmela Rita Balistreri, Giuseppe Novelli, Valentina Ferradini, Federica Sangiuolo, Beatrice Belmonte, Davide Vacca
Takotsubo syndrome (TTS), recognized as stress’s cardiomyopathy, or better as left ventricular apical balloon syndrome in the recent years, is a rare pathology, described for the first time by Japanese researchers in 1990. TTS is characterized by a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2b0bde8865ad2938d7ac074f306b6fd
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