• 155 Citations
  • 6 h-Index
19922016
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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

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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
Assays
Genes
Mutation
Paraplegia
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

Autoimmunity
Intellectual Disability
Psychiatry
Genes
Chromosomes
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

Craniosynostoses
Gene Dosage
Chromosome Duplication
Microcephaly
Intellectual Disability
17 Citations (Scopus)
Chromosome Deletion
Intellectual Disability
Craniosynostoses
Mothers
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