Insight into the Pathology of a COL1A1 Signal Peptide Heterozygous Mutation Leading to Severe Osteogenesis Imperfecta

по Lindert, U., Gnoli, M., Maioli, M., Bedeschi, M.F., Sangiorgi, L., Rohrbach, M., Giunta, C.
Опубликовано в: Calcif Tissue Int (2017)

Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome

по Bedeschi, M.F., Colombo, L., Mari, F., Hofmann, K., Rauch, A., Gentilin, B., Renieri, A., Clerici, D.
Опубликовано 2011

ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing()

по Moncini, S., Bedeschi, M.F., Castronovo, P., Crippa, M., Calvello, M., Garghentino, R.R., Scuvera, G., Finelli, P., Venturin, M.
Опубликовано 2013

Daily life changes and adaptations investigated in 154 families with a child suffering from a rare disability at a public centre for rare diseases in Northern Italy

по Silibello, G., Vizziello, P., Gallucci, M., Selicorni, A., Milani, D., Ajmone, P. F., Rigamonti, C., De Stefano, S., Bedeschi, M. F., Lalatta, Faustina
Опубликовано в: Ital J Pediatr (2016)

Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders

по Fontana, L., Bedeschi, M. F., Maitz, S., Cereda, A., Faré, C., Motta, S., Seresini, A., D’Ursi, P., Orro, A., Pecile, V., Calvello, M., Selicorni, A., Lalatta, F., Milani, D., Sirchia, S. M., Miozzo, M., Tabano, S.
Опубликовано в: Epigenetics (2018)

Providing high-quality care remotely to patients with rare bone diseases during COVID-19 pandemic

по Brizola, E., Adami, G., Baroncelli, G. I., Bedeschi, M. F., Berardi, P., Boero, S., Brandi, M. L., Casareto, L., Castagnola, E., Fraschini, P., Gatti, D., Giannini, S., Gonfiantini, M. V., Landoni, V., Magrelli, A., Mantovani, G., Michelis, M. B., Nasto, L. A., Panzeri, L., Pianigiani, E., Scopinaro, A., Trespidi, L., Vianello, A., Zampino, G., Sangiorgi, L.
Опубликовано в: Orphanet J Rare Dis (2020)