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Vanna Pecile

  • 922 Citations
  • 17 h-Index
1981 …2018
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  • 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

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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 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. 897-909

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

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, 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 journal › Article

Chromosomes
History
Mothers
Zygote
Homologous Recombination