Search Results - "Baldo, Demetrio"

Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants by Leonardi, Emanuela, Aspromonte, Maria Cristina, Drongitis, Denise, Bettella, Elisa, Verrillo, Lucia, Polli, Roberta, McEntagart, Meriel, Licchetta, Laura, Dilena, Robertino, D'Arrigo, Stefano, Ciaccio, Claudia, Esposito, Silvia, Leuzzi, Vincenzo, Torella, Annalaura, Baldo, Demetrio, Lonardo, Fortunato, Bonato, Giulia, Pellegrin, Serena, Stanzial, Franco, Posmyk, Renata, Kaczorowska, Ewa, Carecchio, Miryam, Gos, Monika, Rzońca-Niewczas, Sylwia, Miano, Maria Giuseppina, Murgia, Alessandra

“…Lysine-specific demethylase 5C (KDM5C) has been identified as an important chromatin remodeling gene, contributing to X-linked neurodevelopmental disorders…”
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Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility by Leone, Maria Pia, Morlino, Silvia, Nardella, Grazia, Pracella, Riccardo, Giachino, Daniela, Celli, Luca, Baldo, Demetrio, Turolla, Licia, Piccione, Maria, Salzano, Emanuela, Busè, Martina, Lastella, Patrizia, Zollino, Marcella, Cantone, Rachele, Grosso, Enrico, Zonta, Andrea, Pasini, Barbara, Piscopo, Carmelo, De Maggio, Ilaria, Priolo, Manuela, Mammi, Corrado, Foiadelli, Thomas, Trabatti, Chiara, Savasta, Salvatore, Iolascon, Achille, Ferraris, Alessandro, Lodato, Valentina, Di Giosaffatte, Niccolò, Majore, Silvia, Selicorni, Angelo, Petracca, Antonio, Fusco, Carmela, Celli, Mauro, Guarnieri, Vito, Micale, Lucia, Castori, Marco

“…Deleterious variants in collagen genes are the most common cause of hereditary connective tissue disorders (HCTD). Adaptations of the American College of…”
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Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome by Marcato, Livia, Turolla, Licia, Pompilii, Eva, Dupont, Celine, Gruchy, Nicolas, De Toffol, Simona, Bracalente, Gabriella, Bacrot, Severine, Troilo, Enzo, Tabet, Anne C., Rossi, Sabrina, Delezoïde, Anne L., Baldo, Demetrio, Leporrier, Nathalie, Maggi, Federico, Molin, Arnaud, Pilu, Gianluigi, Simoni, Giuseppe, Vialard, Francois, Grati, Francesca R.

“…Key Clinical Message Copy losses/gains of the Williams–Beuren syndrome (WBS) region cause neurodevelopmental disorders with variable expressivity. The WBS…”
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Three cases with de novo 6q imbalance and variable prenatal phenotype by Grati, Francesca R., Lalatta, Faustina, Turolla, Licia, Cavallari, Ugo, Gentilin, Barbara, Rossella, Franca, Cetin, Irene, Antonazzo, Patrizio, Bellotti, Maria, Dulcetti, Francesca, Baldo, Demetrio, Tenconi, Romano, Simoni, Giuseppe, Miozzo, Monica

“…We describe two families in which three fetuses had a de novo 6q imbalance and abnormal phenotypes. We determined the boundaries and the parental origin of the…”
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