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

  • 12 Similar Profiles
Phenotype Medicine & Life Sciences
Mutation Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Epilepsy Medicine & Life Sciences
Genes Medicine & Life Sciences
Neuroimaging Medicine & Life Sciences
Muscular Dystrophies Medicine & Life Sciences
Electroencephalography Medicine & Life Sciences

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Research Output 1986 2019

  • 1672 Citations
  • 25 h-Index
  • 77 Article
  • 1 Chapter
  • 1 Letter
  • 1 Review article
3 Citations (Scopus)

Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience

Ciaccio, C., Saletti, V., D'Arrigo, S., Esposito, S., Alfei, E., Moroni, I., Tonduti, D., Chiapparini, L., Pantaleoni, C. & Milani, D., 2019, In : European Journal of Medical Genetics. 62, 12, 103596.

Research output: Contribution to journalArticle

Pediatrics
Mutation
Megalencephaly
Vascular Malformations
Brain

Connectivity measures suggest a sub-cortical generator of myoclonus in Angelman syndrome

Ferlazzo, E., Franceschetti, S., Gasparini, S., Elia, M., Canafoglia, L., Pantaleoni, C., Ascoli, M., D'Agostino, T., Sueri, C., Ferrigno, G., Panzica, F., Cianci, V. & Aguglia, U., Dec 2019, In : Clinical Neurophysiology. 130, 12, p. 2231-2237 7 p.

Research output: Contribution to journalArticle

Angelman Syndrome
Myoclonus
Electroencephalography
Control Groups
Muscles
3 Citations (Scopus)

EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome

Childhood Overgrowth Collaboration, Griffiths, S., Loveday, C., Zachariou, A., Behan, L. A., Chandler, K., Cole, T., D'Arrigo, S., Dieckmann, A., Foster, A., Gibney, J., Hunter, M., Milani, D., Pantaleoni, C., Roche, E., Sherlock, M., Springer, A., White, S. M. & Tatton-Brown, K., Apr 1 2019, In : American Journal of Medical Genetics, Part A. 179, 4, p. 588-594 7 p.

Research output: Contribution to journalArticle

Intellectual Disability
Phenotype
Exome
Cryptorchidism
Growth
2 Citations (Scopus)

GEN-O-MA project: an Italian network studying clinical course and pathogenic pathways of moyamoya disease—study protocol and preliminary results

on behalf of GEN-O-MA study group, Jan 1 2019, (Accepted/In press) In : Neurological Sciences.

Research output: Contribution to journalArticle

Age of Onset
Neuroimaging
Italy
Phenotype
Disease Susceptibility