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European Journal of Medical Genetics|December 25, 2015
Rare interstitial deletion of chromosome 2p11.2p12. Report of a new patient with developmental delay and unusual clinical featuresRosamaria Silipigni, Elisa Cattaneo, Marco Baccarin, et al.
American Journal of Medical Genetics. Part A|January 13, 2016
Interstitial 6q25 microdeletion syndrome: ARID1B is the key geneLuisa Ronzoni, Francesco Tagliaferri, Arianna Tucci, et al.
Congenital Anomalies|April 3, 2016
Insights into 6q21-q22: Refinement of the critical region for acro-cardio-facial syndromeDonatella Milani, Giulia Anna Cagnoli, Marco Baccarin, et al.
Italian Journal of Pediatrics|April 18, 2015
HOXA genes cluster: clinical implications of the smallest deletionLidia Pezzani, Donatella Milani, Francesca Manzoni, et al.
European Journal of Medical Genetics|November 21, 2016
7p22.1 microduplication syndrome: Refinement of the critical regionLuisa Ronzoni, Francesca Sofia Grassi, Lidia Pezzani, et al.
Cytogenetic and Genome Research|December 20, 2017
Familial Duplication/Deletion of 1q42.13q43 as Meiotic Consequence of an Intrachromosomal Insertion in Chromosome 1Rosamaria Silipigni, Edoardo Monfrini, Marco Baccarin, et al.
Cytogenetic and Genome Research|November 19, 2018
New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature ReviewClaudia Ciaccio, Giulietta Scuvera, Arianna Tucci, et al.
American Journal of Medical Genetics. Part A|April 9, 2015
Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins: a genotype-phenotype analysisLuisa Ronzoni, Angela Peron, Vera Bianchi, et al.
Molecular Genetics & Genomic Medicine|June 28, 2022
Yield of array-CGH analysis in Tunisian children with autism spectrum disorderFethia Chehbani, Pasquale Tomaiuolo, Chiara Picinelli, et al.
American Journal of Medical Genetics. Part A|September 10, 2016
Prenatal diagnosis of Simpson-Golabi-Behmel syndromePamela Magini, Flavia Palombo, Simona Boito, et al.
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