Research Output per year
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
Network
Recent external collaboration on country level. Dive into details by clicking on the dots.
Research Output 1981 2018
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 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
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
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 others, Jan 1 2018, (Accepted/In press) In : Human Genetics.Research output: Contribution to journal › Article
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, 1Research output: Contribution to journal › Article
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 journal › Article
Bilateral Hearing Loss
Gene Deletion
Missense Mutation
Hearing Loss
Point Mutation