20172020

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Article
2020
Open Access

Profound alterations of the chromatin architecture at chromosome 11p15.5 in cells from Beckwith-Wiedemann and Silver-Russell syndromes patients

Rovina, D., La Vecchia, M., Cortesi, A., Fontana, L., Pesant, M., Maitz, S., Tabano, S., Bodega, B., Miozzo, M. & Sirchia, S. M., Dec 1 2020, In : Scientific Reports. 10, 1, 8275.

Research output: Contribution to journalArticle

Open Access
2019

A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twins

Paganini, L., Hadi, L. A., Chetta, M., Rovina, D., Fontana, L., Colapietro, P., Bonaparte, E., Pezzani, L., Marchisio, P., Tabano, S. M., Costanza, J., Sirchia, S. M., Riboni, L., Milani, D. & Miozzo, M., 2019, In : Clinical Genetics. 95, 3, p. 368-374

Research output: Contribution to journalArticle

Open Access
Open Access
2018

Generation of induced pluripotent stem cells from a Becker muscular dystrophy patient carrying a deletion of exons 45-55 of the dystrophin gene (CCMi002BMD-A-9 ∆45-55)

Gowran, A., Spaltro, G., Casalnuovo, F., Vigorelli, V., Spinelli, P., Castiglioni, E., Rovina, D., Paganini, S., Di Segni, M., Gervasini, C., Nigro, P. & Pompilio, G., Apr 1 2018, In : Stem Cell Research. 28, p. 21-24 4 p.

Research output: Contribution to journalArticle

2017

Derivation of the Duchenne muscular dystrophy patient-derived induced pluripotent stem cell line lacking DMD exons 49 and 50 (CCMi001DMD-A-3, ∆49, ∆50)

Spaltro, G., Vigorelli, V., Casalnuovo, F., Spinelli, P., Castiglioni, E., Rovina, D., Paganini, S., Di Segni, M., Nigro, P., Gervasini, C., Pompilio, G. & Gowran, A., Dec 2017, In : Stem Cell Research. 25, p. 128-131 4 p.

Research output: Contribution to journalArticle