1969 …2020

Research output per year

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Fingerprint Dive into the research topics where Lidia Larizza is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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Research Output

Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes

Di Fede, E., Massa, V., Augello, B., Squeo, G., Scarano, E., Perri, A. M., Fischetto, R., Causio, F. A., Zampino, G., Piccione, M., Curridori, E., Mazza, T., Castellana, S., Larizza, L., Ghelma, F., Colombo, E. A., Gandini, M. C., Castori, M., Merla, G., Milani, D. & 1 others, Gervasini, C., 2020, (Accepted/In press) In : European Journal of Human Genetics.

Research output: Contribution to journalArticle

Open Access
  • Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate

    Catusi, I., Recalcati, M. P., Bestetti, I., Garzo, M., Valtorta, C., Alfonsi, M., Alghisi, A., Cappellani, S., Casalone, R., Caselli, R., Ceccarini, C., Ceglia, C., Ciaschini, A. M., Coviello, D., Crosti, F., D'Aprile, A., Fabretto, A., Genesio, R., Giagnacovo, M., Granata, P. & 20 others, Longo, I., Malacarne, M., Marseglia, G., Montaldi, A., Nardone, A. M., Palka, C., Pecile, V., Pessina, C., Postorivo, D., Redaelli, S., Renieri, A., Rigon, C., Tiberi, F., Tonelli, M., Villa, N., Zilio, A., Zuccarello, D., Novelli, A., Larizza, L. & Giardino, D., Jan 1 2020, In : Molecular Genetics and Genomic Medicine. 8, 1, e1056.

    Research output: Contribution to journalArticle

    Open Access
  • 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., 2019, In : Neurogenetics. 20, 3, p. 145-154 10 p.

    Research output: Contribution to journalArticle

    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

  • Assessment of intrafamilial clinical variability of poikiloderma with neutropenia by a 10-year follow-up of three affected siblings

    Concolino, D., Sestito, S., Falvo, F., Romano, G., Ceravolo, M., Anastasio, E., Pensabene, L., Colombo, E. A. & Larizza, L., Jan 2019, In : European Journal of Medical Genetics. 62, 1, p. 73-76 4 p.

    Research output: Contribution to journalArticle