Simona Cavani
Ente Ospedaliero Ospedali Galliera
37 Papers
326 Citations
Simona Cavani is an academic researcher from Ente Ospedaliero Ospedali Galliera. The author has contributed to research in topics: Biology & Trisomy. The author has an hindex of 14, co-authored 36 publications.
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Papers
Clinical Significance of Rare Copy Number Variations in Epilepsy: A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization
Pasquale Striano,Antonietta Coppola,Roberta Paravidino,Michela Malacarne,Stefania Gimelli,Angela Robbiano,Monica Traverso,Marianna Pezzella,Vincenzo Belcastro,Amedeo Bianchi,Maurizio Elia,Antonio Falace,Elisabetta Gazzerro,Edoardo Ferlazzo,Elena Freri,Roberta Galasso,Giuseppe Gobbi,Cristina Molinatto,Simona Cavani,Orsetta Zuffardi,Salvatore Striano,Giovanni Battista Ferrero,Margherita Silengo,Maria Luigia Cavaliere,Matteo Benelli,Alberto Magi,Maria Piccione,Franca Dagna Bricarelli,Domenico A. Coviello,Marco Fichera,Carlo Minetti,Federico Zara +31 more
TL;DR: Patients with epilepsy show a significantly increased burden of large, rare, gene-rich CNVs, particularly when associated with mental retardation and neuropsychiatric features, which indicate a specific association between the identified CNVs and epilepsy.
Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.
Massimiliano Cecconi,F. Forzano,Donatella Milani,Simona Cavani,C. Baldo,Angelo Selicorni,Chiara Pantaleoni,Margherita Silengo,Giovanni Battista Ferrero,G. Scarano,M. Della Monica,Rita Fischetto,Paola Grammatico,Silvia Majore,Giuseppe Zampino,Luigi Memo,E. Lucci Cordisco,G. Neri,Mauro Pierluigi,F. Dagna Bricarelli,Marina Grasso,Francesca Faravelli +21 more
TL;DR: A high frequency of congenital heart defects was present in patients with intragenic mutations, supporting the relevance of the NSD1 gene in the pathogenesis of this particular defect.
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Cytogenetic Guidelines and Quality Assurance: a common European framework for quality assessment for constitutional and acquired cytogenetic investigations.
TL;DR: Cytogenetic Guidelines and Quality Assurance: a common European framework for quality assessment for constitutional and acquired cytogenetic investigations.
First-trimester euploid miscarriages analysed by array-CGH.
Chiara Viaggi,Simona Cavani,Michela Malacarne,F. Floriddia,G. Zerega,C. Baldo,Massimo Mogni,Mauro Castagnetta,G. Piombo,Domenico Coviello,F. Camandona,D. Lijoi,W. Insegno,M. Traversa,Mauro Pierluigi +14 more
TL;DR: This study shows that array-CGH is useful for detecting submicroscopic CNVs and identifying candidate genes which could account for euploid miscarriages, and shows a higher resolution, higher detection rate and overcoming problems of culture failures, maternal contamination and poor chromosome morphology.
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Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.
Daniela De Rocco,Roberta Bottega,Enrico Cappelli,Simona Cavani,Maria Criscuolo,Elena Nicchia,Fabio Corsolini,Chiara Greco,Adriana Borriello,Johanna Svahn,Marta Pillon,Cristina Mecucci,Gabriella Casazza,Federico Verzegnassi,Chiara Cugno,Anna Locasciulli,Piero Farruggia,Daniela Longoni,Ugo Ramenghi,Walter Barberi,Fabio Tucci,Silverio Perrotta,Paola Grammatico,Helmut Hanenberg,Fulvio Della Ragione,Carlo Dufour,Anna Savoia,Anna Savoia +27 more
TL;DR: In this article, the mutations identified in 100 unrelated probands enrolled into the National Network of the Italian Association of Pediatric Hematoly and Oncology were reported, including large genomic deletions and nonsense or frameshift mutations, although a series of missense mutations, whose pathogenetic role was not always certain.
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