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

Por Tassano, Elisa, Accogli, Andrea, Panigada, Serena, Ronchetto, Patrizia, Cuoco, Cristina, Gimelli, Giorgio
Publicado em 2014

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

Por Tassano, Elisa, Severino, Mariasavina, Rosina, Silvia, Papa, Riccardo, Tortora, Domenico, Gimelli, Giorgio, Cuoco, Cristina, Picco, Paolo
Publicado no Mol Cytogenet (2016)

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

Por Gimelli, Stefania, Leoni, Massimiliano, Di Rocco, Maja, Caridi, Gianluca, Porta, Simona, Cuoco, Cristina, Gimelli, Giorgio, Tassano, Elisa
Publicado em 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

Por Lerone Margherita, Divizia Maria, Béna Frédérique, Gimelli Stefania, Ronchetto Patrizia, Cuoco Cristina, Mirabelli-Badenier Marisol, Mascaretti Monica, Gimelli Giorgio
Publicado em 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

Por Tassano, Elisa, De Santis, Lucia Rosaia, Corona, Maria Franca, Parmigiani, Stefano, Zanetti, Dalila, Porta, Simona, Gimelli, Giorgio, Cuoco, Cristina
Publicado no Mol Cytogenet (2015)

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

Por Severino, Mariasavina, Accogli, Andrea, Gimelli, Giorgio, Rossi, Andrea, Kotzeva, Svetlana, Di Rocco, Maja, Ronchetto, Patrizia, Cuoco, Cristina, Tassano, Elisa
Publicado no 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

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

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

Por Tassano, Elisa, Mirabelli-Badenier, Marisol, Veneselli, Edvige, Puliti, Aldamaria, Lerone, Margherita, Vaccari, Carlotta Maria, Morana, Giovanni, Porta, Simona, Gimelli, Giorgio, Cuoco, Cristina
Publicado no Mol Cytogenet (2015)

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

Por Gimelli, Stefania, Capra, Valeria, Di Rocco, Maja, Leoni, Massimiliano, Mirabelli-Badenier, Marisol, Schiaffino, Maria Cristina, Fiorio, Patrizia, Cuoco, Cristina, Gimelli, Giorgio, Tassano, Elisa
Publicado no 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

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

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

Por 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
Publicado no Am J Med Genet A (2015)