• 922 Citations
  • 17 h-Index
1981 …2018
If you made any changes in Pure these will be visible here soon.

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

  • 922 Citations
  • 17 h-Index
  • 78 Article
  • 3 Comment/debate
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, Fabretto, A., Pecile, V., Gasparini, P., Gasparini, P., Carrozzi, M., Lacombe, D., Lacombe, D., Arveiler, B., Arveiler, B., Rooryck, C., Rooryck, C. & Moutton, S., Jan 1 2018, In : European Journal of Human Genetics. 26, 1, p. 85-93 9 p.

Research output: Contribution to journalArticle

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. 897-909

Research output: Contribution to journalArticle

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 journalArticle

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 journalArticle

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, Franchi, F., Patsalis, P., Sismani, C., Morí, M. A., Nevado, J., Tommerup, N. & Zuffardi, O., Oct 2018, In : Human Genetics. 137, 10, p. 817-829 13 p.

Research output: Contribution to journalArticle

Chromosomes
History
Mothers
Zygote
Homologous Recombination