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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.

  • 22 Similar Profiles
Beckwith-Wiedemann Syndrome Medicine & Life Sciences
De Lange Syndrome Medicine & Life Sciences
Mutation Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Rett Syndrome Medicine & Life Sciences
Genes Medicine & Life Sciences
Methylation Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences

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Research Output 1990 2019

  • 134 Article
  • 4 Comment/debate
  • 2 Review article
  • 1 Conference contribution

A KHDC3L mutation resulting in recurrent hydatidiform mole causes genome-wide DNA methylation loss in oocytes and persistent imprinting defects post-fertilisation

Demond, H., Anvar, Z., Jahromi, B. N., Sparago, A., Verma, A., Davari, M., Calzari, L., Russo, S., Jahromi, M. A., Monk, D., Andrews, S., Riccio, A. & Kelsey, G., Dec 17 2019, In : Genome Medicine. 11, 1, 84.

Research output: Contribution to journalArticle

Open Access
Hydatidiform Mole
DNA Methylation
Fertilization
Methylation
Oocytes

Analysis of the Phenotypes in the Rett Networked Database

Frullanti, E., Papa, F. T., Grillo, E., Clarke, A., Ben-Zeev, B., Pineda, M., Bahi-Buisson, N., Bienvenu, T., Armstrong, J., Roche Martinez, A., Mari, F., Nissenkorn, A., Lo Rizzo, C., Veneselli, E., Russo, S., Vignoli, A., Pini, G., Djuric, M., Bisgaard, A-M., Ravn, K. & 12 others, Bosnjak, V. M., Hayek, J., Khajuria, R., Montomoli, B., Cogliati, F., Pintaudi, M., Hadzsiev, K., Craiu, D., Voinova, V., Djukic, A., Villard, L. & Renieri, A., 2019, In : International Journal of Genomics. 2019, p. 6956934

Research output: Contribution to journalArticle

Genes
Databases
Phenotype
Rett Syndrome
Mutation

Comparison of Quantitative Analysis of Methylated Alleles Real-Time PCR and Methylation-Specific MLPA for Molecular Diagnosis of Beckwith-Wiedemann Syndrome

Bergallo, M., Galliano, I., Montanari, P., Calvi, C., Daprà, V., Carli, D., Russo, S., Mussa, A. & Ferrero, G. B., Aug 1 2019, In : Pathobiology. 86, 4, p. 217-224 8 p.

Research output: Contribution to journalArticle

Beckwith-Wiedemann Syndrome
Methylation
Real-Time Polymerase Chain Reaction
Alleles
Polymerase Chain Reaction

Development, behaviour and autism in individuals with SMC1A variants

SMC1A Consortium, Mar 1 2019, In : Journal of Child Psychology and Psychiatry and Allied Disciplines. 60, 3, p. 305-313 9 p.

Research output: Contribution to journalArticle

De Lange Syndrome
Autistic Disorder
Self-Injurious Behavior
Phenotype
Cognition

Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes

Mackay, D. J. G., Bliek, J., Lombardi, M. P., Russo, S., Calzari, L., Guzzetti, S., Izzi, C., Selicorni, A., Melis, D., Temple, K., Maher, E., Brioude, F., Netchine, I. & Eggermann, T., Mar 4 2019, In : Genetical Research. 101, p. e3

Research output: Contribution to journalArticle

Silver-Russell Syndrome
Beckwith-Wiedemann Syndrome
Anxiety
Phenotype