Smith-Magenis Syndrome—Clinical Review, Biological Background and Related Disorders

por Rinaldi, Berardo, Villa, Roberta, Sironi, Alessandra, Garavelli, Livia, Finelli, Palma, Bedeschi, Maria Francesca
Publicado 2022

Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome

por Crippa, Milena, Rusconi, Daniela, Castronovo, Chiara, Bestetti, Ilaria, Russo, Silvia, Cereda, Anna, Selicorni, Angelo, Larizza, Lidia, Finelli, Palma
Publicado 2015

13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome – case report and review of the literature

por Bestetti, Ilaria, Sironi, Alessandra, Catusi, Ilaria, Mariani, Milena, Giardino, Daniela, Manoukian, Siranoush, Milani, Donatella, Larizza, Lidia, Castronovo, Chiara, Finelli, Palma
Publicado 2018

New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene

por Crippa, Milena, Bestetti, Ilaria, Perotti, Mario, Castronovo, Chiara, Tabano, Silvia, Picinelli, Chiara, Grassi, Guido, Larizza, Lidia, Pincelli, Angela Ida, Finelli, Palma
Publicado 2014

SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome

por Crippa, Milena, Bestetti, Ilaria, Maitz, Silvia, Weiss, Karin, Spano, Alice, Masciadri, Maura, Smithson, Sarah, Larizza, Lidia, Low, Karen, Cohen, Lior, Finelli, Palma
Publicado 2020

Misbehaviour of XIST RNA in Breast Cancer Cells

por Sirchia, Silvia M., Tabano, Silvia, Monti, Laura, Recalcati, Maria P., Gariboldi, Manuela, Grati, Francesca R., Porta, Giovanni, Finelli, Palma, Radice, Paolo, Miozzo, Monica
Publicado 2009

SNPs and real-time quantitative PCR method for constitutional allelic copy number determination, the VPREB1 marker case

por Frigerio, Marcello, Passeri, Elena, de Filippis, Tiziana, Rusconi, Daniela, Valaperta, Rea, Carminati, Mario, Donnangelo, Anita, Costa, Elena, Persani, Luca, Finelli, Palma, Corbetta, Sabrina
Publicado 2011

Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome

por Castronovo, Chiara, Rossetti, Raffaella, Rusconi, Daniela, Recalcati, Maria P., Cacciatore, Chiara, Beccaria, Elena, Calcaterra, Valeria, Invernizzi, Pietro, Larizza, Daniela, Finelli, Palma, Persani, Luca
Publicado 2014

A familial t(4;8) translocation segregates with epilepsy and migraine with aura

por Crippa, Milena, Malatesta, Paola, Bonati, Maria Teresa, Trapasso, Francesco, Fortunato, Francesco, Annesi, Grazia, Larizza, Lidia, Labate, Angelo, Finelli, Palma, Perrotti, Nicola, Gambardella, Antonio
Publicado 2020

Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation

por Calzari, Luciano, Barcella, Matteo, Alari, Valentina, Braga, Daniele, Muñoz-Viana, Rafael, Barlassina, Cristina, Finelli, Palma, Gervasini, Cristina, Barco, Angel, Russo, Silvia, Larizza, Lidia
Publicado 2020

A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele

por Sironi, Alessandra, Bestetti, Ilaria, Masciadri, Maura, Tumiatti, Francesca, Crippa, Milena, Pantaleoni, Chiara, Russo, Silvia, D’Arrigo, Stefano, Milani, Donatella, Larizza, Lidia, Finelli, Palma
Publicado 2022

Germline NUP98 Variants in Two Siblings with a Rothmund–Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling

por Colombo, Elisa Adele, Valiante, Michele, Uggeri, Matteo, Orro, Alessandro, Majore, Silvia, Grammatico, Paola, Gentilini, Davide, Finelli, Palma, Gervasini, Cristina, D’Ursi, Pasqualina, Larizza, Lidia
Publicado 2023

Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome

por Gervasini, Cristina, Picinelli, Chiara, Azzollini, Jacopo, Rusconi, Daniela, Masciadri, Maura, Cereda, Anna, Marzocchi, Cinzia, Zampino, Giuseppe, Selicorni, Angelo, Tenconi, Romano, Russo, Silvia, Larizza, Lidia, Finelli, Palma
Publicado 2013

Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features

por Cirello, Valentina, Giorgini, Valentina, Castronovo, Chiara, Marelli, Susan, Mainini, Ester, Sironi, Alessandra, Recalcati, Maria Paola, Pessina, Marco, Giardino, Daniela, Larizza, Lidia, Persani, Luca, Finelli, Palma, Russo, Silvia, Fugazzola, Laura
Publicado 2018

Histone Deacetylase Inhibitors Ameliorate Morphological Defects and Hypoexcitability of iPSC-Neurons from Rubinstein-Taybi Patients

por Alari, Valentina, Scalmani, Paolo, Ajmone, Paola Francesca, Perego, Sara, Avignone, Sabrina, Catusi, Ilaria, Lonati, Paola Adele, Borghi, Maria Orietta, Finelli, Palma, Terragni, Benedetta, Mantegazza, Massimo, Russo, Silvia, Larizza, Lidia
Publicado 2021

Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome

por Colombo, Elisa A., Locatelli, Andrea, Cubells Sánchez, Laura, Romeo, Sara, Elcioglu, Nursel H., Maystadt, Isabelle, Esteve Martínez, Altea, Sironi, Alessandra, Fontana, Laura, Finelli, Palma, Gervasini, Cristina, Pecile, Vanna, Larizza, Lidia
Publicado 2018

Genetic investigations on 8 patients affected by ring 20 chromosome syndrome

por Giardino, Daniela, Vignoli, Aglaia, Ballarati, Lucia, Recalcati, Maria Paola, Russo, Silvia, Camporeale, Nicole, Marchi, Margherita, Finelli, Palma, Accorsi, Patrizia, Giordano, Lucio, La Briola, Francesca, Chiesa, Valentina, Canevini, Maria Paola, Larizza, Lidia
Publicado 2010

Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological ph...

por Finelli, Palma, Sirchia, Silvia Maria, Masciadri, Maura, Crippa, Milena, Recalcati, Maria Paola, Rusconi, Daniela, Giardino, Daniela, Monti, Laura, Cogliati, Francesca, Faravelli, Francesca, Natacci, Federica, Zoccante, Leonardo, Bernardina, Bernardo Dalla, Russo, Silvia, Larizza, Lidia
Publicado 2012

Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors

por Roversi, Gaia, Picinelli, Chiara, Bestetti, Ilaria, Crippa, Milena, Perotti, Daniela, Ciceri, Sara, Saccheri, Fabiana, Collini, Paola, Poliani, Pietro L., Catania, Serena, Peissel, Bernard, Pagni, Fabio, Russo, Silvia, Peterlongo, Paolo, Manoukian, Siranoush, Finelli, Palma
Publicado 2015

Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes

por Castronovo, Chiara, Valtorta, Emanuele, Crippa, Milena, Tedoldi, Sara, Romitti, Lorenza, Amione, Maria Cristina, Guerneri, Silvana, Rusconi, Daniela, Ballarati, Lucia, Milani, Donatella, Grosso, Enrico, Cavalli, Pietro, Giardino, Daniela, Bonati, Maria Teresa, Larizza, Lidia, Finelli, Palma
Publicado 2013