Research Output per year
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.
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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
Network
Recent external collaboration on country level. Dive into details by clicking on the dots.
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, , Jan 1 2020, In : Molecular Genetics and Genomic Medicine. 8, 1, e1056.Research output: Contribution to journal › Article
Open Access
Phenotype
Microarray Analysis
Retrospective Studies
Inheritance Patterns
Medical Genetics
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
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 journal › Article
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 journal › Article
Mosaicism
Infertility
Cell Line
Chromosomes, Human, Pair 9
Karyotype