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Vanna Pecile

1981 …2020

Research output per year

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Research Output

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 journal › Article

Open Access

    • Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism-array analysis

    Bottega, R., Cappellani, S., Fabretto, A., Spinelli, A. M., Severini, G. M., Aloisio, M., Faleschini, M., Athanasakis, E., Bruno, I., Faletra, F. & Pecile, V., Mar 2019, In : Molecular Genetics and Genomic Medicine. 7, 3, e546.

    Research output: Contribution to journal › Letter

    Open Access

    Fetal RHD detection from circulating cell-free fetal DNA in maternal plasma: validation of a diagnostic kit using automatic extraction and frozen DNA

    Londero, D., Stampalija, T., Bolzicco, D., Castro Silva, E., Candolini, M., Cortivo, C., Dreossi, C., Fantasia, I., Pecile, V. & De Angelis, V., Dec 1 2019, In : Transfusion Medicine. 29, 6, p. 408-414 7 p.

    Research output: Contribution to journal › Article

    • Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4

    Bottega, R., Perrone, M. D., Vecchiato, K., Taddio, A., Sabui, S., Pecile, V., Said, H. M. & Faletra, F., Nov 1 2019, In : Journal of Human Genetics. 64, 11, p. 1075-1081 7 p.

    Research output: Contribution to journal › Article

    • Ten new cases of Balanced Reciprocal Translocation Mosaicism (BRTM): Reproductive implications, frequency and mechanism

    Garzo, M., Catusi, I., Colombo, D. M., De Grada, L., Recalcati, M. P., Rodeschini, O., Barone, C., Beltrami, N., Busuito, R., Cappellani, S., Ciaschini, A. M., Gulisano, A., Malpezzi, E., Pecile, V., Pittalis, M. C., Romitti, L., Stioui, S., Larizza, L. & Giardino, D., Jan 1 2019, (Accepted/In press) In : European Journal of Medical Genetics.

    Research output: Contribution to journal › Article