• 848 Citations
  • 16 h-Index
1981 …2018
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Fingerprint Fingerprint is based on mining the text of the person's scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

  • 33 Similar Profiles
Beckwith-Wiedemann Syndrome Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Chromosomes Medicine & Life Sciences
Cytogenetics Medicine & Life Sciences
Single Nucleotide Polymorphism Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Silver Medicine & Life Sciences
Mosaicism Medicine & Life Sciences

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Research Output 1981 2018

  • 848 Citations
  • 16 h-Index
  • 72 Article
  • 3 Comment/debate
1 Citations

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 othersFabretto, 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

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
1 Citations

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 othersFranchi, F., Patsalis, P., Sismani, C., Morí, M. A., Nevado, J., Tommerup, N. & Zuffardi, O., Jan 1 2018, (Accepted/In press) In : Human Genetics.

Research output: Contribution to journalArticle

Chromosomes
History
Mothers
Zygote
Homologous Recombination

A complete duplication of X chromosome resulting in a tricentric isochromosome originated by centromere repositioning

Villa, N., Conconi, D., Benussi, D. G., Tornese, G., Crosti, F., Sala, E., Dalprà, L., Dalprà, L. & Pecile, V., Jun 13 2017, In : Molecular Cytogenetics. 10, 1

Research output: Contribution to journalArticle

Isochromosomes
Centromere
X Chromosome
Chromosomes
Turner Syndrome

A novel OTOA mutation in an Italian family with hearing loss

Fontana, P., Morgutti, M., Pecile, V., Lenarduzzi, S., Cappellani, S., Falco, M., Scarano, F. & Lonardo, F., Dec 1 2017, In : Gene Reports. 9, p. 111-114 4 p.

Research output: Contribution to journalArticle

Bilateral Hearing Loss
Gene Deletion
Missense Mutation
Hearing Loss
Point Mutation