Ospedale Pediatrico Bambino Gesu

Fingerprint Dive into the research topics where Ospedale Pediatrico Bambino Gesu is active. These topic labels come from the works of this organisation's members. Together they form a unique fingerprint.

Pediatrics Medicine & Life Sciences
Mutation Medicine & Life Sciences
Therapeutics Medicine & Life Sciences
Genes Medicine & Life Sciences
Italy Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Neoplasms Medicine & Life Sciences
Epilepsy Medicine & Life Sciences

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Projects 2019 2019

OSPEDALE BAMBINO GESU' - GENETICA E MALATTIE RARE IN PEDIATRIA

Ricerca, U.

1/1/1912/31/19

Project: Other project

Research Output 1964 2019

9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression

Bonati, M. T., Castronovo, C., Sironi, A., Zimbalatti, D., Bestetti, I., Crippa, M., Novelli, A., Loddo, S., Dentici, M. L., Taylor, J., Devillard, F., Larizza, L. & Finelli, P., Jun 17 2019, In : Neurogenetics.

Research output: Contribution to journalArticle

Genes
Cytogenetics
Computer Simulation
Neurodevelopmental Disorders
Phenotype

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

Flex, E., Martinelli, S., Van Dijck, A., Ciolfi, A., Cecchetti, S., Coluzzi, E., Pannone, L., Andreoli, C., Radio, F. C., Pizzi, S., Carpentieri, G., Bruselles, A., Catanzaro, G., Pedace, L., Miele, E., Carcarino, E., Ge, X., Chijiwa, C., Lewis, M. E. S., Meuwissen, M. & 40 others, Kenis, S., Van der Aa, N., Larson, A., Brown, K., Wasserstein, M. P., Skotko, B. G., Begtrup, A., Person, R., Karayiorgou, M., Roos, J. L., Van Gassen, K. L., Koopmans, M., Bijlsma, E. K., Santen, G. W. E., Barge-Schaapveld, D. Q. C. M., Ruivenkamp, C. A. L., Hoffer, M. J. V., Lalani, S. R., Streff, H., Craigen, W. J., Graham, B. H., van den Elzen, A. P. M., Kamphuis, D. J., Õunap, K., Reinson, K., Pajusalu, S., Wojcik, M. H., Viberti, C., Di Gaetano, C., Bertini, E., Petrucci, S., De Luca, A., Rota, R., Ferretti, E., Matullo, G., Dallapiccola, B., Sgura, A., Walkiewicz, M., Kooy, R. F. & Tartaglia, M., Sep 5 2019, In : American Journal of Human Genetics. 105, 3, p. 493-508 16 p.

Research output: Contribution to journalArticle

Premature Aging
Cell Aging
Histones
Chromatin
DNA Packaging

Abnormal circadian rhythm in patients with GRIN1-related developmental epileptic encephalopathy

Scala, M., Amadori, E., Fusco, L., Marchese, F., Capra, V., Minetti, C., Vari, M. S. & Striano, P., May 24 2019, In : European Journal of Paediatric Neurology.

Research output: Contribution to journalArticle

Brain Diseases
Circadian Rhythm
Sleep
Crying
Inborn Genetic Diseases