Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Francesca Tumiatti"'
Autor:
Ilaria Bestetti, Milena Crippa, Alessandra Sironi, Matteo Bellini, Francesca Tumiatti, Sara Ballabio, Ferruccio Ceriotti, Luigi Memo, Maria Iascone, Lidia Larizza, Palma Finelli
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Thanks to a long-read sequencing (LRS) approach, in this study, we have reported a molecularly solved case of a proband with a clinical diagnosis of Cornelia de Lange syndrome (CDLS), which is a multisystemic disorder whose causative molecular defect
Externí odkaz:
https://doaj.org/article/daaa1bda643547108cc85310b1498121
Autor:
Vanessa K. Favasuli, Domenica Ronchetti, Ilaria Silvestris, Noemi Puccio, Giuseppina Fabbiano, Valentina Traini, Katia Todoerti, Silvia Erratico, Alessia Ciarrocchi, Valentina Fragliasso, Domenica Giannandrea, Francesca Tumiatti, Raffaella Chiaramonte, Yvan Torrente, Palma Finelli, Eugenio Morelli, Nikhil C. Munshi, Niccolò Bolli, Antonino Neri, Elisa Taìana
Publikováno v:
Haematologica, Vol 109, Iss 1 (2023)
DIS3 gene mutations occur in approximately 10% of patients with multiple myeloma (MM); furthermore, DIS3 expression can be affected by monosomy 13 and del(13q), found in roughly 40% of MM cases. Despite the high incidence of DIS3 mutations and deleti
Externí odkaz:
https://doaj.org/article/0b1c35b936fb4637b779ba411fdb0591
Autor:
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
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 11, p 5912 (2022)
KBG syndrome (KBGS) is a neurodevelopmental disorder caused by the Ankyrin Repeat Domain 11 (ANKRD11) haploinsufficiency. Here, we report the molecular investigations performed on a cohort of 33 individuals with KBGS clinical suspicion. By using a mu
Externí odkaz:
https://doaj.org/article/283499ec5e6348c79847835d939d0fa1
Autor:
Alessandra Sironi, Ilaria Bestetti, Maura Masciadri, Francesca Tumiatti, Milena Crippa, Chiara Pantaleoni, Silvia Russo, Stefano D’Arrigo, Donatella Milani, Lidia Larizza, Palma Finelli
Publikováno v:
European Journal of Human Genetics. 30:1233-1238
RAI1 is a dosage-sensitive gene whose decreased or increased expression by recurrent and non-recurrent 17p11.2 deletions or duplications causes Smith-Magenis (SMS) or Potocki-Lupski syndromes (PTLS), respectively. Here we report on a 21-year-old fema