• 1765 Citations
  • 24 h-Index
19942018
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  • 19 Similar Profiles
Chromosomes Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Fluorescence In Situ Hybridization Medicine & Life Sciences
Genes Medicine & Life Sciences
Beckwith-Wiedemann Syndrome Medicine & Life Sciences
Cytogenetics Medicine & Life Sciences
Rubinstein-Taybi Syndrome Medicine & Life Sciences
Human Chromosomes Medicine & Life Sciences

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Research Output 1994 2018

  • 1765 Citations
  • 24 h-Index
  • 79 Article
  • 3 Comment/debate
  • 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
16 Citations

A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes

Russo, S., Calzari, L., Mussa, A., Mainini, E., Cassina, M., Di Candia, S., Clementi, M., Guzzetti, S., Tabano, S., Miozzo, M., Sirchia, S., Finelli, P., Prontera, P., Maitz, S., Sorge, G., Calcagno, A., Maghnie, M., Divizia, M. T., Melis, D., Manfredini, E. & 3 othersFerrero, G. B., Pecile, V. & Larizza, L., Mar 1 2016, In : Clinical Epigenetics. 8, 1, 23.

Research output: Contribution to journalArticle

Beckwith-Wiedemann Syndrome
Silver
Methylation
Mosaicism
Software Design

A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes

Russo, S., Calzari, L., Mussa, A., Mainini, E., Cassina, M., Di Candia, S., Clementi, M., Guzzetti, S., Tabano, S., Miozzo, M. R., Sirchia, S. M., Finelli, P., Prontera, P., Maitz, S., Sorge, G., Calcagno, A., Maghnie, M., Divizia, M. T., Melis, D., Manfredini, E. & 3 othersFerrero, G. B., Pecile, V. & Larizza, L., Mar 1 2016, In : Clinical Epigenetics. 8, 1, 23.

Research output: Contribution to journalArticle

Beckwith-Wiedemann Syndrome
Silver
Methylation
Mosaicism
Software Design

A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes

Russo, S., Calzari, L., Mussa, A., Mainini, E., Cassina, M., Di Candia, S., Clementi, M., Guzzetti, S., Tabano, S., Miozzo, M. R., Sirchia, S. M., Finelli, P., Prontera, P., Maitz, S., Sorge, G., Calcagno, A., Maghnie, M., Divizia, M. T., Melis, D., Manfredini, E. & 3 othersFerrero, G. B., Pecile, V. & Larizza, L., Mar 1 2016, In : Clinical Epigenetics. 8, 1, 23.

Research output: Contribution to journalArticle

Beckwith-Wiedemann Syndrome
Silver
Methylation
Mosaicism
Software Design