• 155 Citations
  • 6 h-Index
If you made any changes in Pure these will be visible here soon.

Fingerprint Dive into the research topics where Silvestra Amata is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 19 Similar Profiles
Globins Medicine & Life Sciences
Genes Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Mutation Medicine & Life Sciences
Craniosynostoses Medicine & Life Sciences
Haplotypes Medicine & Life Sciences
Multigene Family Medicine & Life Sciences
Neural Cell Adhesion Molecule L1 Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output 1992 2016

  • 155 Citations
  • 6 h-Index
  • 11 Article

Identification of novel mutations in L1CAM gene by a DHPLC-based assay

Vinci, M., Falco, M., Castiglia, L., Grillo, L., Spalletta, A., Sturnio, M., Galesi, O., Salemi, M., Gloria, A., Amata, S., Piccione, M., Antona, V., Vitello, G. A. & Fichera, M., Aug 9 2016, (Accepted/In press) In : Genes and Genomics. p. 1-6 6 p.

Research output: Contribution to journalArticle

Neural Cell Adhesion Molecule L1
1 Citation (Scopus)

Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response

Fichera, M., Barone, R., Grillo, L., De Grandi, M., Fiore, V., Morana, I., Maniscalchi, T., Vinci, M., Amata, S., Spalletta, A., Sorge, G. & Signorelli, S. S., 2014, In : Molecular Cytogenetics. 7, 1, 90.

Research output: Contribution to journalArticle

Intellectual Disability
5 Citations (Scopus)

Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis

Grillo, L., Greco, D., Pettinato, R., Avola, E., Potenza, N., Castiglia, L., Spalletta, A., Amata, S., Di Benedetto, D., Luciano, D., Romano, C. & Fichera, M., Jan 25 2014, In : Gene. 534, 2, p. 435-439 5 p.

Research output: Contribution to journalArticle

Gene Dosage
Chromosome Duplication
Intellectual Disability
17 Citations (Scopus)
Chromosome Deletion
Intellectual Disability
Borderline Personality Disorder
4 Citations (Scopus)

Identification of novel mutations in patients with coffin-lowry syndrome by a denaturing HPLC-based assay

Falco, M., Romano, C., Alberti, A., Greco, D., Scuderi, C., Avola, E., Failla, P., Belli, S., Tolmie, J. L., Amata, S. & Fichera, M., Dec 2005, In : Clinical Chemistry. 51, 12, p. 2356-2358 3 p.

Research output: Contribution to journalArticle