Publications by authors named "Elisa Savin"

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A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q.
Fabio Sirchia, Eleonora Di Gregorio, Gabriella Restagno, Enrico Grosso, Patrizia Pappi, Elisa Savin

Eur J Med Genet· April 2017

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Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications.
Eleonora Di Gregorio, Giorgia Gai, Giovanni Botta, Alessandro Calcia, Patrizia Pappi, Elisa Savin

Cytogenet Genome Res· June 2016

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Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH.
Eleonora Di Gregorio, Elisa Savin, Elisa Biamino, Elga Fabia Belligni, Valeria Giorgia Naretto

Mol Cytogenet· December 2014

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A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation.
Giorgia Mandrile, Eleonora Di Gregorio, Alessandro Calcia, Alessandro Brussino, Enrico Grosso, Elisa Savin

Case Rep Genet· December 2014

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De novo balanced chromosome rearrangements in prenatal diagnosis.
Daniela Giardino, Cecilia Corti, Lucia Ballarati, Daniela Colombo, Elena Sala, Elisa Savin

Prenat Diagn· March 2009

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Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: cooperative study of 19 Italian laboratories.
Leda Dalprà, Daniela Giardino, Palma Finelli, Cecilia Corti, Chiara Valtorta, Elisa Savin

Genet Med· June 2006

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