Comparison of first‐tier whole‐exome sequencing with a multi‐step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.

Autor: Rosina, Erica¹ (AUTHOR), Pezzani, Lidia² (AUTHOR), Apuril, Erika¹ (AUTHOR), Pezzoli, Laura¹ (AUTHOR), Marchetti, Daniela¹ (AUTHOR), Bellini, Matteo¹ (AUTHOR), Lucca, Camilla¹ (AUTHOR), Meossi, Camilla³ (AUTHOR), Massimello, Marta⁴ (AUTHOR), Mariani, Milena⁵ (AUTHOR), Scatigno, Agnese² (AUTHOR), Cattaneo, Elisa⁶ (AUTHOR), Colombo, Lorenzo⁷ (AUTHOR), Maitz, Silvia⁸ (AUTHOR), Cereda, Anna² (AUTHOR), Milani, Donatella³ (AUTHOR), Spaccini, Luigina⁶ (AUTHOR), Bedeschi, Maria Francesca⁹ (AUTHOR), Selicorni, Angelo⁵ (AUTHOR), Iascone, Maria¹ (AUTHOR) miascone@asst‐pg23.it

Publikováno v: Molecular Genetics & Genomic Medicine. Jan2024, Vol. 12 Issue 1, p1-12. 12p.

A long way to syndromic short stature.

Autor: Gaudioso, Federica, Meossi, Camilla, Pezzani, Lidia, Grilli, Federico, Silipigni, Rosamaria, Russo, Silvia, Masciadri, Maura, Vimercati, Alessandro, Marchisio, Paola Giovanna, Bedeschi, Maria Francesca, Milani, Donatella

Publikováno v: Italian Journal of Pediatrics; 9/27/2024, Vol. 50 Issue 1, p1-9, 9p

Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies.

Autor: Di Fede, Elisabetta, Lettieri, Antonella, Taci, Esi, Castiglioni, Silvia, Rebellato, Stefano, Parodi, Chiara, Colombo, Elisa Adele, Grazioli, Paolo, Natacci, Federica, Marchisio, Paola, Pezzani, Lidia, Fazio, Grazia, Milani, Donatella, Massa, Valentina, Gervasini, Cristina

Publikováno v: Human Genetics; Jun2024, Vol. 143 Issue 6, p747-759, 13p

Double somatic mosaicism in Cornelia de Lange syndrome.

Autor: Pezzani, Lidia, Pezzoli, Laura, Rosina, Erica, Scatigno, Agnese, Cereda, Anna, Lucca, Camilla, Bellini, Matteo, Marchetti, Daniela, Maino, Marzia, Mangili, Giovanna, Selicorni, Angelo, Iascone, Maria

Publikováno v: American Journal of Medical Genetics. Part A; May2024, Vol. 194 Issue 5, p1-4, 4p

7p22.1 microduplication syndrome: Refinement of the critical region

Autor: Ronzoni, Luisa, Grassi, Francesca Sofia, Pezzani, Lidia, Tucci, Arianna, Baccarin, Marco, Esposito, Susanna, Milani, Donatella

Publikováno v: In European Journal of Medical Genetics February 2017 60(2):114-117