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

  • 41 Similar Profiles
Intellectual Disability Medicine & Life Sciences
Chromosomes Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Cytogenetics Medicine & Life Sciences
Single Nucleotide Polymorphism Medicine & Life Sciences
Mosaicism Medicine & Life Sciences
Genes Medicine & Life Sciences
Mutation Medicine & Life Sciences

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Research Output 1981 2020

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
Phenotype
Microarray Analysis
Retrospective Studies
Inheritance Patterns
Medical Genetics

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 journalArticle

Mothers
DNA
Fetal Blood
Pregnant Women
Phenotype

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 journalArticle

Thiamine
Mutation
Genes
Polyneuropathies
Protein Stability

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 journalArticle

Mosaicism
Infertility
Cell Line
Chromosomes, Human, Pair 9
Karyotype