Phenotypic and genetic characterization of a patient with a de novo interstitial 14q24.1q24.3 deletion

由 Tassano, Elisa, Accogli, Andrea, Panigada, Serena, Ronchetto, Patrizia, Cuoco, Cristina, Gimelli, Giorgio
出版 2014

Interstitial de novo 18q22.3q23 deletion: clinical, neuroradiological and molecular characterization of a new case and review of the literature

由 Tassano, Elisa, Severino, Mariasavina, Rosina, Silvia, Papa, Riccardo, Tortora, Domenico, Gimelli, Giorgio, Cuoco, Cristina, Picco, Paolo
發表在 Mol Cytogenet (2016)

A rare 3q13.31 microdeletion including GAP43 and LSAMP genes

由 Gimelli, Stefania, Leoni, Massimiliano, Di Rocco, Maja, Caridi, Gianluca, Porta, Simona, Cuoco, Cristina, Gimelli, Giorgio, Tassano, Elisa
出版 2013

Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the <it>CHL1 </it>gene, from a normal father to his two affected children

由 Lerone Margherita, Divizia Maria, Béna Frédérique, Gimelli Stefania, Ronchetto Patrizia, Cuoco Cristina, Mirabelli-Badenier Marisol, Mascaretti Monica, Gimelli Giorgio
出版 2011-04-01

Concomitant deletion of chromosome 16p13.11 and triplication of chromosome 19p13.3 in a child with developmental disorders, intellectual disability, and epilepsy

由 Tassano, Elisa, De Santis, Lucia Rosaia, Corona, Maria Franca, Parmigiani, Stefano, Zanetti, Dalila, Porta, Simona, Gimelli, Giorgio, Cuoco, Cristina
發表在 Mol Cytogenet (2015)

Clinico-radiological and molecular characterization of a child with ring chromosome 2 presenting growth failure, microcephaly, kidney and brain malformations

由 Severino, Mariasavina, Accogli, Andrea, Gimelli, Giorgio, Rossi, Andrea, Kotzeva, Svetlana, Di Rocco, Maja, Ronchetto, Patrizia, Cuoco, Cristina, Tassano, Elisa
發表在 Mol Cytogenet (2015)

Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children

由 Cuoco, Cristina, Ronchetto, Patrizia, Gimelli, Stefania, Béna, Frédérique, Divizia, Maria Teresa, Lerone, Margherita, Mirabelli-Badenier, Marisol, Mascaretti, Monica, Gimelli, Giorgio
出版 2011

Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion

由 Tassano, Elisa, Mirabelli-Badenier, Marisol, Veneselli, Edvige, Puliti, Aldamaria, Lerone, Margherita, Vaccari, Carlotta Maria, Morana, Giovanni, Porta, Simona, Gimelli, Giorgio, Cuoco, Cristina
發表在 Mol Cytogenet (2015)

Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disorders

由 Gimelli, Stefania, Capra, Valeria, Di Rocco, Maja, Leoni, Massimiliano, Mirabelli-Badenier, Marisol, Schiaffino, Maria Cristina, Fiorio, Patrizia, Cuoco, Cristina, Gimelli, Giorgio, Tassano, Elisa
發表在 Mol Cytogenet (2014)

Parental Imbalances Involving Chromosomes 15q and 22q May Predispose to the Formation of De Novo Pathogenic Microdeletions and Microduplications in the Offspring

由 Capra, Valeria, Mascelli, Samantha, Garrè, Maria Luisa, Nozza, Paolo, Vaccari, Carlotta, Bricco, Lara, Sloan-Béna, Frédérique, Gimelli, Stefania, Cuoco, Cristina, Gimelli, Giorgio, Tassano, Elisa
出版 2013

Congenital Aural Atresia Associated With Agenesis of Internal Carotid Artery in a Girl With a FOXI3 Deletion

由 Tassano, Elisa, Jagannathan, Vidhya, Drögemüller, Cord, Leoni, Massimiliano, Hytönen, Marjo K., Severino, Mariasavina, Gimelli, Stefania, Cuoco, Cristina, Di Rocco, Maja, Sanio, Kirsi, Groves, Andrew K., Leeb, Tosso, Gimelli, Giorgio
發表在 Am J Med Genet A (2015)