Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome

by Julián Nevado, Julián Nevado, Julián Nevado, Cristina Bel-Fenellós, Ana Karen Sandoval-Talamantes, Ana Karen Sandoval-Talamantes, Ana Karen Sandoval-Talamantes, Ana Karen Sandoval-Talamantes, Ana Karen Sandoval-Talamantes, Adolfo Hernández, Chantal Biencinto-López, María Luisa Martínez-Fernández, Pilar Barrúz, Fernando Santos-Simarro, Fernando Santos-Simarro, Fernando Santos-Simarro, María Ángeles Mori-Álvarez, María Ángeles Mori-Álvarez, María Ángeles Mori-Álvarez, Elena Mansilla, Elena Mansilla, Elena Mansilla, Fé Amalia García-Santiago, Fé Amalia García-Santiago, Fé Amalia García-Santiago, Isabel Valcorba, Isabel Valcorba, Isabel Valcorba, Belén Sáenz-Rico, María Luisa Martínez-Frías, Pablo Lapunzina, Pablo Lapunzina, Pablo Lapunzina
Published 2021-07-01

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.

by Maria Clara Bonaglia, Roberto Giorda, Silvana Beri, Cristina De Agostini, Francesca Novara, Marco Fichera, Lucia Grillo, Ornella Galesi, Annalisa Vetro, Roberto Ciccone, Maria Teresa Bonati, Sabrina Giglio, Renzo Guerrini, Sara Osimani, Susan Marelli, Claudio Zucca, Rita Grasso, Renato Borgatti, Elisa Mani, Cristina Motta, Massimo Molteni, Corrado Romano, Donatella Greco, Santina Reitano, Anna Baroncini, Elisabetta Lapi, Antonella Cecconi, Giulia Arrigo, Maria Grazia Patricelli, Chiara Pantaleoni, Stefano D'Arrigo, Daria Riva, Francesca Sciacca, Bernardo Dalla Bernardina, Leonardo Zoccante, Francesca Darra, Cristiano Termine, Emanuela Maserati, Stefania Bigoni, Emanuela Priolo, Armand Bottani, Stefania Gimelli, Frederique Bena, Alfredo Brusco, Eleonora di Gregorio, Irene Bagnasco, Ursula Giussani, Lucio Nitsch, Pierluigi Politi, Maria Luisa Martinez-Frias, Maria Luisa Martínez-Fernández, Nieves Martínez Guardia, Anna Bremer, Britt-Marie Anderlid, Orsetta Zuffardi
Published 2011-07-01