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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.

  • 30 Similar Profiles
Rubinstein-Taybi Syndrome Medicine & Life Sciences
De Lange Syndrome Medicine & Life Sciences
Beckwith-Wiedemann Syndrome Medicine & Life Sciences
Mutation Medicine & Life Sciences
Genetic Association Studies Medicine & Life Sciences
Genes Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences

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Research Output 2001 2018

  • 1238 Citations
  • 17 h-Index
  • 95 Article
  • 3 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

A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome

Paganini, L., Pesenti, C., Milani, D., Fontana, L., Motta, S., Sirchia, S. M., Scuvera, G., Marchisio, P., Esposito, S., Cinnante, C. M., Tabano, S. M. & Miozzo, M. R., 2018, In : American Journal of Medical Genetics, Part A. 176, 6, p. 1427-1431

Research output: Contribution to journalArticle

Recessive Genes
Inheritance Patterns
Exons
Aniridia
Exome

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. 897-909

Research output: Contribution to journalArticle

Chromosomes
Silver
Methylation
Silver-Russell Syndrome
Genomic Imprinting

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
Genetic Databases
Chromosome Deletion
Intellectual Disability
Obesity
Phenotype