Renal involvement and Strømme syndrome

por Caridi, Gianluca, Lugani, Francesca, Lerone, Margherita, Divizia, Maria Teresa, Ghiggeri, Gian Marco, Verrina, Enrico
Publicado 2020

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

por Tassano, Elisa, Gimelli, Stefania, Divizia, Maria Teresa, Lerone, Margherita, Vaccari, Carlotta, Puliti, Aldamaria, Gimelli, Giorgio
Publicado 2015

Recurrence and Familial Inheritance of Intronic NIPBL Pathogenic Variant Associated With Mild CdLS

por Masciadri, Maura, Ficcadenti, Anna, Milani, Donatella, Cogliati, Francesca, Divizia, Maria Teresa, Larizza, Lidia, Russo, Silvia
Publicado 2018

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 2011

P63 modulates the expression of the WDFY2 gene which is implicated in cancer regulation and limb development

por Monti, Paola, Ciribilli, Yari, Foggetti, Giorgia, Menichini, Paola, Bisio, Alessandra, Cappato, Serena, Inga, Alberto, Divizia, Maria Teresa, Lerone, Margherita, Bocciardi, Renata, Fronza, Gilberto
Publicado 2019

Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs

por Servetti, Martina, Pisciotta, Livia, Tassano, Elisa, Cerminara, Maria, Nobili, Lino, Boeri, Silvia, Rosti, Giulia, Lerone, Margherita, Divizia, Maria Teresa, Ronchetto, Patrizia, Puliti, Aldamaria
Publicado 2021

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

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

De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome

por Vaccari, Carlotta Maria, Romanini, Maria Victoria, Musante, Ilaria, Tassano, Elisa, Gimelli, Stefania, Divizia, Maria Teresa, Torre, Michele, Morovic, Carmen Gloria, Lerone, Margherita, Ravazzolo, Roberto, Puliti, Aldamaria
Publicado 2014

Abnormalities of pubertal development and gonadal function in Noonan syndrome

por Patti, Giuseppa, Scaglione, Marco, Maiorano, Nadia Gabriella, Rosti, Giulia, Divizia, Maria Teresa, Camia, Tiziana, De Rose, Elena Lucia, Zucconi, Alice, Casalini, Emilio, Napoli, Flavia, Di Iorgi, Natascia, Maghnie, Mohamad
Publicado 2023

Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports

por Bernardini, Laura, Gimelli, Stefania, Gervasini, Cristina, Carella, Massimo, Baban, Anwar, Frontino, Giada, Barbano, Giancarlo, Divizia, Maria Teresa, Fedele, Luigi, Novelli, Antonio, Béna, Frédérique, Lalatta, Faustina, Miozzo, Monica, Dallapiccola, Bruno
Publicado 2009

Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gas...

por Cerminara, Maria, Spirito, Giovanni, Pisciotta, Livia, Squillario, Margherita, Servetti, Martina, Divizia, Maria Teresa, Lerone, Margherita, Berloco, Bianca, Boeri, Silvia, Nobili, Lino, Vozzi, Diego, Sanges, Remo, Gustincich, Stefano, Puliti, Aldamaria
Publicado 2021

Assessment of copy number variations in 120 patients with Poland syndrome

por Vaccari, Carlotta Maria, Tassano, Elisa, Torre, Michele, Gimelli, Stefania, Divizia, Maria Teresa, Romanini, Maria Victoria, Bossi, Simone, Musante, Ilaria, Valle, Maura, Senes, Filippo, Catena, Nunzio, Bedeschi, Maria Francesca, Baban, Anwar, Calevo, Maria Grazia, Acquaviva, Massimo, Lerone, Margherita, Ravazzolo, Roberto, Puliti, Aldamaria
Publicado 2016

A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes

por Russo, Silvia, Calzari, Luciano, Mussa, Alessandro, Mainini, Ester, Cassina, Matteo, Di Candia, Stefania, Clementi, Maurizio, Guzzetti, Sara, Tabano, Silvia, Miozzo, Monica, Sirchia, Silvia, Finelli, Palma, Prontera, Paolo, Maitz, Silvia, Sorge, Giovanni, Calcagno, Annalisa, Maghnie, Mohamad, Divizia, Maria Teresa, Melis, Daniela, Manfredini, Emanuela, Ferrero, Giovanni Battista, Pecile, Vanna, Larizza, Lidia
Publicado 2016

Erratum to: A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes

por Russo, Silvia, Calzari, Luciano, Mussa, Alessandro, Mainini, Ester, Cassina, Matteo, Di Candia, Stefania, Clementi, Maurizio, Guzzetti, Sara, Tabano, Silvia, Miozzo, Monica, Sirchia, Silvia, Finelli, Palma, Prontera, Paolo, Maitz, Silvia, Sorge, Giovanni, Calcagno, Annalisa, Maghnie, Mohamad, Divizia, Maria Teresa, Melis, Daniela, Manfredini, Emanuela, Ferrero, Giovanni Battista, Pecile, Vanna, Larizza, Lidia
Publicado 2016

Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence)

por Baldelli, Ilaria, Baccarani, Alessio, Barone, Chiara, Bedeschi, Francesca, Bianca, Sebastiano, Calabrese, Olga, Castori, Marco, Catena, Nunzio, Corain, Massimo, Costanzo, Sara, Barbato, Giacomo De Paoli, De Stefano, Santa, Divizia, Maria Teresa, Feletti, Francesco, Formica, Matteo, Lando, Mario, Lerone, Margherita, Lorenzetti, Fulvio, Martinoli, Carlo, Mellini, Lorenzo, Nava, Maurizio Bruno, Porcellini, Giuseppe, Puliti, Aldamaria, Romanini, Maria Victoria, Rondoni, Franco, Santi, Pierluigi, Sartini, Silvana, Senes, Filippo, Spada, Lucia, Tarani, Luigi, Valle, Maura, Venturino, Cristina, Zaottini, Federico, Torre, Michele, Crimi, Marco
Publicado 2020