Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome by Ilaria Bestetti, Milena Crippa, Alessandra Sironi, Matteo Bellini, Francesca Tumiatti, Sara Ballabio, Ferruccio Ceriotti, Luigi Memo, Maria Iascone, Lidia Larizza, Palma Finelli, Palma Finelli

Get full text

Smith-Magenis Syndrome—Clinical Review, Biological Background and Related Disorders by Berardo Rinaldi, Roberta Villa, Alessandra Sironi, Livia Garavelli, Palma Finelli, Maria Francesca Bedeschi

Get full text

SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome by Milena Crippa, Milena Crippa, Ilaria Bestetti, Ilaria Bestetti, Silvia Maitz, Karin Weiss, Alice Spano, Maura Masciadri, Sarah Smithson, Lidia Larizza, Karen Low, Lior Cohen, Lior Cohen, Palma Finelli, Palma Finelli

Get full text

Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features by Valentina Cirello, Valentina Giorgini, Chiara Castronovo, Susan Marelli, Ester Mainini, Alessandra Sironi, Alessandra Sironi, Maria Paola Recalcati, Marco Pessina, Daniela Giardino, Lidia Larizza, Luca Persani, Luca Persani, Palma Finelli, Palma Finelli, Silvia Russo, Laura Fugazzola, Laura Fugazzola

Get full text

Molecular Etiology Disclosed by Array CGH in Patients With Silver–Russell Syndrome or Similar Phenotypes by Milena Crippa, Milena Crippa, Maria Teresa Bonati, Luciano Calzari, Chiara Picinelli, Cristina Gervasini, Alessandra Sironi, Alessandra Sironi, Ilaria Bestetti, Ilaria Bestetti, Sara Guzzetti, Simonetta Bellone, Angelo Selicorni, Alessandro Mussa, Andrea Riccio, Andrea Riccio, Giovanni Battista Ferrero, Silvia Russo, Lidia Larizza, Palma Finelli, Palma Finelli

Get full text

A familial t(4;8) translocation segregates with epilepsy and migraine with aura by Milena Crippa, Paola Malatesta, Maria Teresa Bonati, Francesco Trapasso, Francesco Fortunato, Grazia Annesi, Lidia Larizza, Angelo Labate, Palma Finelli, Nicola Perrotti, Antonio Gambardella

Get full text

Misbehaviour of XIST RNA in breast cancer cells. by Silvia M Sirchia, Silvia Tabano, Laura Monti, Maria P Recalcati, Manuela Gariboldi, Francesca R Grati, Giovanni Porta, Palma Finelli, Paolo Radice, Monica Miozzo

Get full text

Germline <i>NUP98</i> Variants in Two Siblings with a Rothmund–Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling by Elisa Adele Colombo, Michele Valiante, Matteo Uggeri, Alessandro Orro, Silvia Majore, Paola Grammatico, Davide Gentilini, Palma Finelli, Cristina Gervasini, Pasqualina D’Ursi, Lidia Larizza

Get full text

Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277*)... by Valentina Alari, Silvia Russo, Davide Rovina, Aoife Gowran, Maria Garzo, Milena Crippa, Laura Mazzanti, Claudia Scalera, Ennio Prosperi, Daniela Giardino, Cristina Gervasini, Palma Finelli, Giulio Pompilio, Lidia Larizza

Get full text

Histone Deacetylase Inhibitors Ameliorate Morphological Defects and Hypoexcitability of iPSC-Neurons from Rubinstein-Taybi Patients by Valentina Alari, Paolo Scalmani, Paola Francesca Ajmone, Sara Perego, Sabrina Avignone, Ilaria Catusi, Paola Adele Lonati, Maria Orietta Borghi, Palma Finelli, Benedetta Terragni, Massimo Mantegazza, Silvia Russo, Lidia Larizza

Get full text

Expanding the Molecular Spectrum of <i>ANKRD11</i> Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome by Ilaria Bestetti, Milena Crippa, Alessandra Sironi, Francesca Tumiatti, Maura Masciadri, Marie Falkenberg Smeland, Swati Naik, Oliver Murch, Maria Teresa Bonati, Alice Spano, Elisa Cattaneo, Milena Mariani, Fabio Gotta, Francesca Crosti, Pietro Cavalli, Chiara Pantaleoni, Federica Natacci, Maria Francesca Bedeschi, Donatella Milani, Silvia Maitz, Angelo Selicorni, Luigina Spaccini, Angela Peron, Silvia Russo, Lidia Larizza, Karen Low, Palma Finelli

Get full text