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Case Reports in Genetics|December 16, 2014
A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineationGiorgia Mandrile, Eleonora Di Gregorio, Alessandro Calcia, et al.
European Journal of Medical Genetics|February 5, 2017
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13qFabio Sirchia, Eleonora Di Gregorio, Gabriella Restagno, et al.
Cytogenetic and Genome Research|December 15, 2015
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/DuplicationsEleonora Di Gregorio, Giorgia Gai, Giovanni Botta, et al.
Molecular Cytogenetics|December 2, 2014
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGHEleonora Di Gregorio, Elisa Savin, Elisa Biamino, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 23, 2005
Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: cooperative study of 19 Italian laboratoriesLeda Dalprà, Daniela Giardino, Palma Finelli, et al.
Prenatal Diagnosis|February 28, 2009
De novo balanced chromosome rearrangements in prenatal diagnosisDaniela Giardino, Cecilia Corti, Lucia Ballarati, et al.
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