• 2684 Citations
  • 26 h-Index
1990 …2018
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Fingerprint Dive into the research topics where Silvia Russo is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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

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Research Output 1990 2018

  • 2684 Citations
  • 26 h-Index
  • 124 Article
  • 4 Comment/debate
  • 2 Review article
  • 1 Conference contribution
2 Citations (Scopus)

Clinical Manifestations and Metabolic Outcomes of Seven Adults with Silver-Russell Syndrome

Patti, G., Giaccardi, M., Capra, V., Napoli, F., Cangemi, G., Notarnicola, S., Guzzetti, S., Russo, S., Maghnie, M. & Di Iorgi, N., Jun 1 2018, In : Journal of Clinical Endocrinology and Metabolism. 103, 6, p. 2225-2233 9 p.

Research output: Contribution to journalArticle

Silver-Russell Syndrome
Silver
Fats
Extremities
Glucose

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement

Brioude, F., Kalish, J. M., Mussa, A., Foster, A. C., Bliek, J., Ferrero, G. B., Boonen, S. E., Cole, T., Baker, R., Bertoletti, M., Cocchi, G., Coze, C., De Pellegrin, M., Hussain, K., Ibrahim, A., Kilby, M. D., Krajewska-Walasek, M., Kratz, C. P., Ladusans, E. J., Lapunzina, P. & 21 others, Le Bouc, Y., Maas, S. M., Macdonald, F., Õunap, K., Peruzzi, L., Rossignol, S., Russo, S., Shipster, C., Skórka, A., Tatton-Brown, K., Tenorio, J., Tortora, C., Grønskov, K., Netchine, I., Hennekam, R. C., Prawitt, D., Tümer, Z., Eggermann, T., Mackay, D. J. G., Riccio, A. & Maher, E. R., Apr 2018, In : Nature reviews. Endocrinology. 14, 4, p. 229-249 21 p.

Research output: Contribution to journalReview article

Beckwith-Wiedemann Syndrome
Macroglossia
Genomic Imprinting
Neoplasms
Abdominal Wall
Rubinstein-Taybi Syndrome
Induced Pluripotent Stem Cells
Exons
Cell Line
Mutation
Rubinstein-Taybi Syndrome
Induced Pluripotent Stem Cells
Exons
Cell Line
Mutation
2 Citations (Scopus)

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
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