Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems

av Capra, Valeria, Mirabelli-Badenier, Marisol, Stagnaro, Michela, Rossi, Andrea, Tassano, Elisa, Gimelli, Stefania, Gimelli, Giorgio
Publicerad 2012

Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case

av Tassano, Elisa, Gimelli, Stefania, Divizia, Maria Teresa, Lerone, Margherita, Vaccari, Carlotta, Puliti, Aldamaria, Gimelli, Giorgio
I publikationen Mol Cytogenet (2015)

Identification of an Interstitial 18p11.32-p11.31 Duplication Including the EMILIN2 Gene in a Family with Porokeratosis of Mibelli

av Occella, Corrado, Bleidl, Dario, Nozza, Paolo, Mascelli, Samantha, Raso, Alessandro, Gimelli, Giorgio, Gimelli, Stefania, Elisa Tassano
Publicerad 2013

Multi-Modality Imaging for the Identification of Arrhythmogenic Substrates Prior to Electrophysiology Studies

av Gimelli, Alessia, Ernst, Sabine, Liga, Riccardo
I publikationen Front Cardiovasc Med (2021)

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

av Gimelli, Stefania, Leoni, Massimiliano, Di Rocco, Maja, Caridi, Gianluca, Porta, Simona, Cuoco, Cristina, Gimelli, Giorgio, Tassano, Elisa
Publicerad 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

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

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

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

Reciprocating Compressor 1D Thermofluid Dynamic Simulation: Problems and Comparison with Experimental Data

av A. Gimelli, A. Rapicano, F. Barba, O. Pennacchia
Publicerad 2012-01-01

The tumor suppressor gene TRC8/RNF139 is disrupted by a constitutional balanced translocation t(8;22)(q24.13;q11.21) in a young girl with dysgerminoma

av Gimelli, Stefania, Beri, Silvana, Drabkin, Harry A, Gambini, Claudio, Gregorio, Andrea, Fiorio, Patrizia, Zuffardi, Orsetta, Gemmill, Robert M, Giorda, Roberto, Gimelli, Giorgio
Publicerad 2009

Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11)

av Griseri, Paola, Vos, Yvonne, Giorda, Roberto, Gimelli, Stefania, Beri, Silvana, Santamaria, Giuseppe, Mognato, Guendalina, Hofstra, Robert M W, Gimelli, Giorgio, Ceccherini, Isabella
Publicerad 2009

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

av Gimelli, Stefania, Capra, Valeria, Di Rocco, Maja, Leoni, Massimiliano, Mirabelli-Badenier, Marisol, Schiaffino, Maria Cristina, Fiorio, Patrizia, Cuoco, Cristina, Gimelli, Giorgio, Tassano, Elisa
I publikationen 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

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

Genotype-Phenotype Correlation of 2q37 Deletions Including NPPC Gene Associated with Skeletal Malformations

av Tassano, Elisa, Buttgereit, Jens, Bader, Michael, Lerone, Margherita, Divizia, Maria Teresa, Bocciardi, Renata, Napoli, Flavia, Pala, Giovanna, Sloan-Béna, Frédérique, Gimelli, Stefania, Gimelli, Giorgio
Publicerad 2013

ICF syndrome with variable expression in sibs.

av Gimelli, G, Varone, P, Pezzolo, A, Lerone, M, Pistoia, V
Publicerad 1993

Heterozygous Chorein Deficiency in Probable Tau-negative Early-onset Alzheimer Disease

av Lazarczyk, Maciej J., Haller, Sven, Gimelli, Stefania, Bena, Frédérique, Giannakopoulos, Panteleimon
I publikationen Alzheimer Dis Assoc Disord (2016)

Evaluation data about accuracy of cadmium-zinc-telluride imaging in detecting single and multivessel coronary artery disease: Focus on gender differences

av Gimelli, Alessia, Pugliese, Nicola Riccardo, Kusch, Annette, Giorgetti, Assuero, Marzullo, Paolo
I publikationen Data Brief (2018)

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions.

av Di Rocco, M, Buocompagni, A, Picco, P, Vignola, S, Borrone, C, Gimelli, G
Publicerad 1998

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

av Tassano, Elisa, Accogli, Andrea, Panigada, Serena, Ronchetto, Patrizia, Cuoco, Cristina, Gimelli, Giorgio
Publicerad 2014

Custom Array Comparative Genomic Hybridization: the Importance of DNA Quality, an Expert Eye, and Variant Validation

av Lantieri, Francesca, Malacarne, Michela, Gimelli, Stefania, Santamaria, Giuseppe, Coviello, Domenico, Ceccherini, Isabella
I publikationen Int J Mol Sci (2017)

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

av 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
I publikationen Am J Med Genet A (2015)