Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family

por Moncini, Silvia, Bonati, Maria Teresa, Morella, Ilaria, Ferrari, Luca, Brambilla, Riccardo, Riva, Paola
Publicado en Eur J Hum Genet (2015)

Recombinant Chromosome 7 Driven by Maternal Chromosome 7 Pericentric Inversion in a Girl with Features of Silver-Russell Syndrome

por Catusi, Ilaria, Bonati, Maria Teresa, Mainini, Ester, Russo, Silvia, Orlandini, Eleonora, Larizza, Lidia, Recalcati, Maria Paola
Publicado en Int J Mol Sci (2020)

Hypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in Ulnar-Mammary syndrome

por Galazzi, Elena, Duminuco, Paolo, Moro, Mirella, Guizzardi, Fabiana, Marazzi, Nicoletta, Sartorio, Alessandro, Avignone, Sabrina, Bonomi, Marco, Persani, Luca, Bonati, Maria Teresa
Publicado en Endocr Connect (2018)

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 en Ann Clin Transl Neurol (2020)

Digenic inheritance of subclinical variants in Noonan Syndrome patients: an alternative pathogenic model?

por Ferrari, Luca, Mangano, Eleonora, Bonati, Maria Teresa, Monterosso, Ilaria, Capitanio, Daniele, Chiappori, Federica, Brambilla, Ilaria, Gelfi, Cecilia, Battaglia, Cristina, Bordoni, Roberta, Riva, Paola
Publicado en Eur J Hum Genet (2020)

A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype

por Bonati, Maria Teresa, Verde, Federico, Hladnik, Uros, Cattelan, Paola, Campana, Luca, Castronovo, Chiara, Ticozzi, Nicola, Maderna, Luca, Colombrita, Claudia, Papa, Sergio, Banfi, Paolo, Silani, Vincenzo
Publicado en Mol Genet Metab Rep (2017)

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

Molecular Etiology Disclosed by Array CGH in Patients With Silver–Russell Syndrome or Similar Phenotypes

por Crippa, Milena, Bonati, Maria Teresa, Calzari, Luciano, Picinelli, Chiara, Gervasini, Cristina, Sironi, Alessandra, Bestetti, Ilaria, Guzzetti, Sara, Bellone, Simonetta, Selicorni, Angelo, Mussa, Alessandro, Riccio, Andrea, Ferrero, Giovanni Battista, Russo, Silvia, Larizza, Lidia, Finelli, Palma
Publicado en Front Genet (2019)

Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes

por Cogliati, Francesca, Giorgini, Valentina, Masciadri, Maura, Bonati, Maria Teresa, Marchi, Margherita, Cracco, Irene, Gentilini, Davide, Peron, Angela, Savini, Miriam Nella, Spaccini, Luigina, Scelsa, Barbara, Maitz, Silvia, Veneselli, Edvige, Prato, Giulia, Pintaudi, Maria, Moroni, Isabella, Vignoli, Aglaia, Larizza, Lidia, Russo, Silvia
Publicado en Int J Mol Sci (2019)

13q Deletion and central nervous system anomalies: further insights from karyotype–phenotype analyses of 14 patients

por Ballarati, Lucia, Rossi, Elena, Bonati, Maria Teresa, Gimelli, Stefania, Maraschio, Paola, Finelli, Palma, Giglio, Sabrina, Lapi, Elisabetta, Bedeschi, Maria Francesca, Guerneri, Silvana, Arrigo, Giulia, Patricelli, Maria Grazia, Mattina, Teresa, Guzzardi, Oriana, Pecile, Vanna, Police, Adalgisa, Scarano, Gioacchino, Larizza, Lidia, Zuffardi, Orsetta, Giardino, Daniela
Publicado 2007

Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

por Bonaglia, Maria Clara, Giorda, Roberto, Beri, Silvana, De Agostini, Cristina, Novara, Francesca, Fichera, Marco, Grillo, Lucia, Galesi, Ornella, Vetro, Annalisa, Ciccone, Roberto, Bonati, Maria Teresa, Giglio, Sabrina, Guerrini, Renzo, Osimani, Sara, Marelli, Susan, Zucca, Claudio, Grasso, Rita, Borgatti, Renato, Mani, Elisa, Motta, Cristina, Molteni, Massimo, Romano, Corrado, Greco, Donatella, Reitano, Santina, Baroncini, Anna, Lapi, Elisabetta, Cecconi, Antonella, Arrigo, Giulia, Patricelli, Maria Grazia, Pantaleoni, Chiara, D'Arrigo, Stefano, Riva, Daria, Sciacca, Francesca, Dalla Bernardina, Bernardo, Zoccante, Leonardo, Darra, Francesca, Termine, Cristiano, Maserati, Emanuela, Bigoni, Stefania, Priolo, Emanuela, Bottani, Armand, Gimelli, Stefania, Bena, Frederique, Brusco, Alfredo, di Gregorio, Eleonora, Bagnasco, Irene, Giussani, Ursula, Nitsch, Lucio, Politi, Pierluigi, Martinez-Frias, Maria Luisa, Martínez-Fernández, Maria Luisa, Martínez Guardia, Nieves, Bremer, Anna, Anderlid, Britt-Marie, Zuffardi, Orsetta
Publicado 2011