• 1159 Citations
  • 18 h-Index
1983 …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.

  • 32 Similar Profiles
Cytogenetics Medicine & Life Sciences
Prader-Willi Syndrome Medicine & Life Sciences
Chromosomes Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Fluorescence In Situ Hybridization Medicine & Life Sciences
Genetic Association Studies Medicine & Life Sciences
Genetic Markers Medicine & Life Sciences
Trisomy Medicine & Life Sciences

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Research Output 1983 2018

  • 1159 Citations
  • 18 h-Index
  • 67 Article
  • 1 Letter
  • 1 Review article

13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome-case report and review of the literature 06 Biological Sciences 0604 Genetics

Bestetti, I., Sironi, A., Catusi, I., Mariani, M., Giardino, D., Manoukian, S., Milani, D., Larizza, L., Castronovo, C. & Finelli, P., Sep 19 2018, In : Molecular Cytogenetics. 11, 1, 53.

Research output: Contribution to journalReview article

Mosaicism
Biological Science Disciplines
Blood
Phenotype
Interphase

iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability

Alari, V., Russo, S., Terragni, B., Ajmone, P. F., Sironi, A., Catusi, I., Calzari, L., Concolino, D., Marotta, R., Milani, D., Giardino, D., Mantegazza, M., Gervasini, C., Finelli, P. & Larizza, L., Jul 1 2018, In : Stem Cell Research. 30, p. 130-140 11 p.

Research output: Contribution to journalArticle

Rubinstein-Taybi Syndrome
Induced Pluripotent Stem Cells
Neurons
Intellectual Disability
Thumb

Molecular cytogenetics characterization of seven small supernumerary marker chromosomes derived from chromosome 19: Genotype-phenotype correlation and review of the literature

Recalcati, M. P., Bonati, M. T., Beltrami, N., Cardarelli, L., Catusi, I., Costa, A., Garzo, M., Mammi, I., Mattina, T., Nalesso, E., Nardone, A. M., Postorivo, D., Sajeva, A., Varricchio, A., Verri, A., Villa, N., Larizza, L. & Giardino, D., Mar 1 2018, In : European Journal of Medical Genetics. 61, 3, p. 173-180 8 p.

Research output: Contribution to journalArticle

Chromosomes, Human, Pair 19
Genetic Association Studies
Genetic Markers
Cytogenetics
Phenotype

The Italian National External Quality Assessment Program in Cytogenetics: 4 years of activity (2013-2016) following the introduction of poor performance criteria

de Stefano, M. C., Floridia, G., Censi, F., Tosto, F., Salvatore, M., Civolani, A., Crescenzi, B., Giardino, D., Lenzini, E., Lisi, E., Lonardo, F., Mancini, M., Novelli, A., Piombo, G., Stioui, S. & Taruscio, D., Jun 20 2018, In : Annali dell'Istituto Superiore di Sanita. 54, 2, p. 109-116 8 p.

Research output: Contribution to journalArticle

Cytogenetics
Fees and Charges
Karyotype
Terminology
General Hospitals
1 Citations

Cerebral microbleeds: A new presenting feature of chromosome 22q11.2 deletion syndrome

Bonati, M. T., Vanelli, C., Sangalli, D., Sina, C., Giardino, D., Sassone, J., Girotti, F., Silani, V. & Ciammola, A., Sep 15 2016, In : Journal of the Neurological Sciences. 368, p. 300-303 4 p.

Research output: Contribution to journalLetter