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

  • 1 Similar Profiles
Aicardi Syndrome Medicine & Life Sciences
Mutation Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Genes Medicine & Life Sciences
Epilepsy Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Williams Syndrome Medicine & Life Sciences
Headache Medicine & Life Sciences

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Research Output 2000 2019

  • 1992 Citations
  • 23 h-Index
  • 72 Article
  • 2 Letter
  • 1 Chapter

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

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review

Garau, J., Cavallera, V., Valente, M., Tonduti, D., Sproviero, D., Zucca, S., Battaglia, D., Battini, R., Bertini, E., Cappanera, S., Chiapparini, L., Crasà, C., Crichiutti, G., Dalla Giustina, E., D'Arrigo, S., De Giorgis, V., De Simone, M., Galli, J., La Piana, R., Messana, T. & 19 others, Moroni, I., Nardocci, N., Panteghini, C., Parazzini, C., Pichiecchio, A., Pini, A., Ricci, F., Saletti, V., Salvatici, E., Santorelli, F. M., Sartori, S., Tinelli, F., Uggetti, C., Veneselli, E., Zorzi, G., Garavaglia, B., Fazzi, E., Orcesi, S. & Cereda, C., May 26 2019, In : Journal of Clinical Medicine. 8, 5

Research output: Contribution to journalArticle

Aicardi Syndrome
Interferons
Molecular Biology
Mutation
Genes

Spontaneous MRI improvement and absence of cerebral calcification in Aicardi-Goutières syndrome: Diagnostic and disease-monitoring implications

Tonduti, D., Izzo, G., D'Arrigo, S., Riva, D., Moroni, I., Zorzi, G., Cavallera, V., Pichiecchio, A., Uggetti, C., Veggiotti, P., Orcesi, S., Chiapparini, L. & Parazzini, C., Feb 25 2019, In : Molecular Genetics and Metabolism. 126, 4, p. 489-94 6 p.

Research output: Contribution to journalArticle

Aicardi Syndrome
Magnetic resonance imaging
Monitoring
Chemical activation
Leukoencephalopathies
2 Citations (Scopus)

Between SCA5 and SCAR14: Delineation of the SPTBN2 p.R480W-associated phenotype

Nuovo, S., Micalizzi, A., D'Arrigo, S., Ginevrino, M., Biagini, T., Mazza, T. & Valente, E. M., Jul 1 2018, In : European Journal of Human Genetics. 26, 7, p. 928-929 2 p.

Research output: Contribution to journalLetter

4 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., Jan 1 2018, (Accepted/In press) In : European Journal of Medical Genetics.

Research output: Contribution to journalArticle

Pediatrics
Mutation
Megalencephaly
Vascular Malformations
Brain