Renal involvement and Strømme syndrome

nork Caridi, Gianluca, Lugani, Francesca, Lerone, Margherita, Divizia, Maria Teresa, Ghiggeri, Gian Marco, Verrina, Enrico
Argitaratua izan da Clin Kidney J (2020)

Molecular Genetics in Neuroblastoma Prognosis

nork Lerone, Margherita, Ognibene, Marzia, Pezzolo, Annalisa, Martucciello, Giuseppe, Zara, Federico, Morini, Martina, Mazzocco, Katia
Argitaratua izan da Children (Basel) (2021)

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

nork Tassano, Elisa, Gimelli, Stefania, Divizia, Maria Teresa, Lerone, Margherita, Vaccari, Carlotta, Puliti, Aldamaria, Gimelli, Giorgio
Argitaratua izan da Mol Cytogenet (2015)

Multiple endocrine neoplasias type 2B and RET proto-oncogene

nork Martucciello, Giuseppe, Lerone, Margherita, Bricco, Lara, Tonini, Gian Paolo, Lombardi, Laura, Del Rossi, Carmine G, Bernasconi, Sergio
Argitaratua 2012

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

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

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

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

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

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

nork Monti, Paola, Ciribilli, Yari, Foggetti, Giorgia, Menichini, Paola, Bisio, Alessandra, Cappato, Serena, Inga, Alberto, Divizia, Maria Teresa, Lerone, Margherita, Bocciardi, Renata, Fronza, Gilberto
Argitaratua izan da Biosci Rep (2019)

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

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

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

nork 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
Argitaratua 2014

Constitutional 3p26.3 terminal microdeletion in an adolescent with neuroblastoma

nork Pezzolo, Annalisa, Sementa, Angela Rita, Lerone, Margherita, Morini, Martina, Ognibene, Marzia, Defferrari, Raffaella, Mazzocco, Katia, Conte, Massimo, Gigliotti, Anna Rita, Garaventa, Alberto, Pistoia, Vito, Varesio, Luigi
Argitaratua izan da Cancer Biol Ther (2017)

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...

nork 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
Argitaratua izan da Front Genet (2021)

Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction

nork Matera, Ivana, Rusmini, Marta, Guo, Yiran, Lerone, Margherita, Li, Jiankang, Zhang, Jianguo, Di Duca, Marco, Nozza, Paolo, Mosconi, Manuela, Prato, Alessio Pini, Martucciello, Giuseppe, Barabino, Arrigo, Morandi, Francesco, De Giorgio, Roberto, Stanghellini, Vincenzo, Ravazzolo, Roberto, Devoto, Marcella, Hakonarson, Hakon, Ceccherini, Isabella
Argitaratua izan da Eur J Hum Genet (2016)

Assessment of copy number variations in 120 patients with Poland syndrome

nork 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
Argitaratua izan da BMC Med Genet (2016)

Different TBX5 interactions in heart and limb defined by Holt–Oram syndrome mutations

nork Basson, Craig T., Huang, Taosheng, Lin, Robert C., Bachinsky, David R., Weremowicz, Stanislawa, Vaglio, Alicia, Bruzzone, Rina, Quadrelli, Roberto, Lerone, Margherita, Romeo, Giovanni, Silengo, Margherita, Pereira, Alexandre, Krieger, Jose, Mesquita, Sonia F., Kamisago, Mitsuhiro, Morton, Cynthia C., Pierpont, Mary Ella M., Müller, Chistoph W., Seidman, J. G., Seidman, Christine E.
Argitaratua 1999

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

nork 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
Argitaratua izan da Orphanet J Rare Dis (2020)