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Antonio Musio
Researcher at National Research Council
Publications - 76
Citations - 3166
Antonio Musio is an academic researcher from National Research Council. The author has contributed to research in topics: Cornelia de Lange Syndrome & Cohesin. The author has an hindex of 26, co-authored 69 publications receiving 2820 citations. Previous affiliations of Antonio Musio include University of Lübeck & University of Pisa.
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Journal ArticleDOI
Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation
Matthew A. Deardorff,Matthew A. Deardorff,Maninder Kaur,Dinah Yaeger,Abhinav Rampuria,Sergey Korolev,Juan Pié,Concepcion Gil-Rodríguez,María Teresa Echeverría Arnedo,Bart Loeys,Antonie D. Kline,Meredith Wilson,Kaj Lillquist,Victoria Mok Siu,Feliciano J. Ramos,Antonio Musio,Laird S. Jackson,Dale Dorsett,Ian D. Krantz,Ian D. Krantz +19 more
TL;DR: The authors' data indicate that SMC3 and SMC1A mutations contribute to approximately 5% of cases of CdLS, result in a consistently mild phenotype with absence of major structural anomalies typically associated with Cd LS, and in some instances, result with a phenotype that approaches that of apparently nonsyndromic mental retardation.
Journal ArticleDOI
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations
Antonio Musio,Angelo Selicorni,Maria Luisa Focarelli,Cristina Gervasini,Donatella Milani,Silvia Russo,Paolo Vezzoni,Lidia Larizza +7 more
TL;DR: It is reported here that mutations in SMC1L1 (also known asSMC1), which encodes a different subunit of the cohesin complex, are responsible for CdLS in three male members of an affected family and in one sporadic case.
Journal ArticleDOI
The mutational spectrum of human malignant autosomal recessive osteopetrosis
Cristina Sobacchi,Annalisa Frattini,Paul J. Orchard,Oscar Porras,Ilhan Tezcan,Marino Andolina,Riyana Babul-Hirji,Ivo Barić,Natalie Canham,David Chitayat,Sophie Dupuis-Girod,Ian O. Ellis,Amos Etzioni,Anders Fasth,Alain Fisher,Bert Gerritsen,Virginia Gulino,Edwin M. Horwitz,Verena Klamroth,Edoardo Lanino,Massimiliano Mirolo,Antonio Musio,Gert Matthijs,Shigeaki Nonomaya,Luigi D. Notarangelo,Hans D. Ochs,Andrea Superti Furga,Jouni Väliaho,Johan L.K. Van Hove,Mauno Vihinen,Dragana Vujic,Paolo Vezzoni,Anna Villa +32 more
TL;DR: This study contributes to the determination of genetic heterogeneity of arOP and allows further delineation of the other genetic defects causing this severe condition.
Journal ArticleDOI
Physiologic oxygen enhances human embryonic stem cell clonal recovery and reduces chromosomal abnormalities.
Nicholas R. Forsyth,Antonio Musio,Paolo Vezzoni,A Hamish R W Simpson,Brendon Noble,Jim McWhir +5 more
TL;DR: It is demonstrated that physiologic oxygen culture conditions are indispensable for robust hES clone recovery and may enhance the isolation of novel hES lines and transgenic clones.
Journal ArticleDOI
Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.
TL;DR: The spectrum of CdLS mutations is reviewed with a particular emphasis on their correlation to the clinical phenotype, including missense, nonsense, small deletions and insertions, splice site mutations, and genomic rearrangements.