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.
- 37 Similar Profiles
Intellectual Disability
Medicine & Life Sciences
Chromosomes
Medicine & Life Sciences
Cytogenetics
Medicine & Life Sciences
Single Nucleotide Polymorphism
Medicine & Life Sciences
Phenotype
Medicine & Life Sciences
Genes
Medicine & Life Sciences
Mosaicism
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 2018
3
Citations
(Scopus)
19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference
Trimouille, A., Houcinat, N., Vuillaume, M. L., Fergelot, P., Fergelot, P., Boucher, C., Toutain, J., Caignec, C. L., Vincent, M., Nizon, M., Andrieux, J., Vanlerberghe, C., Delobel, B., Duban, B., Mansour, S., Baple, E., McKeown, C., Poke, G., Robertshaw, K., Fifield, E. & 12 others, , Jan 1 2018, In : European Journal of Human Genetics. 26, 1, p. 85-93 9 p.Research output: Contribution to journal › Article
Sotos Syndrome
Intellectual Disability
Head
Phenotype
Chromosome Duplication
2
Citations
(Scopus)
Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders
Fontana, L., Bedeschi, M. F., Maitz, S., Cereda, A., Faré, C., Motta, S., Seresini, A., D’Ursi, P., Orro, A., Pecile, V., Calvello, M., Selicorni, A., Lalatta, F., Milani, D., Sirchia, S. M., Miozzo, M. & Tabano, S., 2018, In : Epigenetics. 13, 9, p. 897-909Research output: Contribution to journal › Article
Chromosomes
Silver
Methylation
Silver-Russell Syndrome
Genomic Imprinting
Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders
Fontana, L., Bedeschi, M. F., Maitz, S., Cereda, A., Faré, C., Motta, S., Seresini, A., D'Ursi, P., Orro, A., Pecile, V., Calvello, M., Selicorni, A., Lalatta, F., Milani, D., Sirchia, S. M., Miozzo, M. & Tabano, S., 2018, In : Epigenetics. 13, 9, p. 897-909 13 p.Research output: Contribution to journal › Article
Chromosomes
Silver
Methylation
Silver-Russell Syndrome
Genomic Imprinting
Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders
Fontana, L., Bedeschi, M. F., Maitz, S., Cereda, A., Faré, C., Motta, S., Seresini, A., D’Ursi, P., Orro, A., Pecile, V., Calvello, M., Selicorni, A., Lalatta, F., Milani, D., Sirchia, S. M., Miozzo, M. & Tabano, S., 2018, In : Epigenetics. 13, 9, p. 897-909 13 p.Research output: Contribution to journal › Article
Chromosomes
Silver
Methylation
Silver-Russell Syndrome
Genomic Imprinting
De novo unbalanced translocations have a complex history/aetiology
Bonaglia, M. C., Kurtas, N. E., Errichiello, E., Bertuzzo, S., Beri, S., Mehrjouy, M. M., Provenzano, A., Vergani, D., Pecile, V., Novara, F., Reho, P., Di Giacomo, M. C., Discepoli, G., Giorda, R., Aldred, M. A., Santos-Rebouças, C. B., Goncalves, A. P., Abuelo, D. N., Giglio, S., Ricca, I. & 7 others, , Oct 2018, In : Human Genetics. 137, 10, p. 817-829 13 p.Research output: Contribution to journal › Article
Chromosomes
History
Mothers
Zygote
Homologous Recombination