Motor neuron differentiation of iPSCs obtained from peripheral blood of a mutant TARDBP ALS patient

by Patrizia Bossolasco, Francesca Sassone, Valentina Gumina, Silvia Peverelli, Maria Garzo, Vincenzo Silani
Published 2018-07-01

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
Published 2018-07-01

Generation of three iPSC lines (IAIi002, IAIi004, IAIi003) from Rubinstein-Taybi syndrome 1 patients carrying CREBBP non sense c.4435G>T, p.(Gly1479*) and c.3474G>A, p.(Trp1158*) a...

by Valentina Alari, Silvia Russo, Davide Rovina, Maria Garzo, Milena Crippa, Luciano Calzari, Claudia Scalera, Daniela Concolino, Elisa Castiglioni, Daniela Giardino, Ennio Prosperi, Palma Finelli, Cristina Gervasini, Aoife Gowran, Lidia Larizza
Published 2019-10-01

Instability of Short Arm of Acrocentric Chromosomes: Lesson from Non-Acrocentric Satellited Chromosomes. Report of 24 Unrelated Cases

by Serena Redaelli, Donatella Conconi, Nicoletta Villa, Elena Sala, Francesca Crosti, Cecilia Corti, Ilaria Catusi, Maria Garzo, Lorenza Romitti, Emanuela Martinoli, Antonella Patrizi, Roberta Malgara, Maria Paola Recalcati, Leda Dalprà, Marialuisa Lavitrano, Paola Riva, Gaia Roversi, Angela Bentivegna
Published 2020-05-01

8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature

by Ilaria Catusi, Maria Garzo, Anna Paola Capra, Silvana Briuglia, Chiara Baldo, Maria Paola Canevini, Rachele Cantone, Flaviana Elia, Francesca Forzano, Ornella Galesi, Enrico Grosso, Michela Malacarne, Angela Peron, Corrado Romano, Monica Saccani, Lidia Larizza, Maria Paola Recalcati
Published 2021-04-01

Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate

by Ilaria Catusi, Maria Paola Recalcati, Ilaria Bestetti, Maria Garzo, Chiara Valtorta, Melissa Alfonsi, Alberta Alghisi, Stefania Cappellani, Rosario Casalone, Rossella Caselli, Caterina Ceccarini, Carlo Ceglia, Anna Maria Ciaschini, Domenico Coviello, Francesca Crosti, Annamaria D'Aprile, Antonella Fabretto, Rita Genesio, Marzia Giagnacovo, Paola Granata, Ilaria Longo, Michela Malacarne, Giuseppina Marseglia, Annamaria Montaldi, Anna Maria Nardone, Chiara Palka, Vanna Pecile, Chiara Pessina, Diana Postorivo, Serena Redaelli, Alessandra Renieri, Chiara Rigon, Fabiola Tiberi, Mariella Tonelli, Nicoletta Villa, Anna Zilio, Daniela Zuccarello, Antonio Novelli, Lidia Larizza, Daniela Giardino
Published 2020-01-01