• 74 Citations
  • 5 h-Index
20172019
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Fingerprint Dive into the research topics where Marco Castori is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 1 Similar Profiles
Joint Instability Medicine & Life Sciences
Ehlers-Danlos Syndrome Medicine & Life Sciences
Palmoplantar Keratoderma Medicine & Life Sciences
Connective Tissue Medicine & Life Sciences
Mutation Medicine & Life Sciences
Central Nervous System Cavernous Hemangioma Medicine & Life Sciences
Genes Medicine & Life Sciences
Skin Medicine & Life Sciences

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Research Output 2017 2019

  • 74 Citations
  • 5 h-Index
  • 29 Article
  • 7 Review article
2 Citations (Scopus)

A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway

Palumbo, P., Petracca, A., Maggi, R., Biagini, T., Nardella, G., Sacco, M. C., Di Schiavi, E., Carella, M., Micale, L. & Castori, M., Jan 1 2019, In : European Journal of Human Genetics.

Research output: Contribution to journalArticle

MAP Kinase Signaling System
Fibroblast Growth Factor 2
Holoprosencephaly
Exome
Autophagy
1 Citation (Scopus)
Ehlers-Danlos Syndrome
Osteogenesis Imperfecta
Heart Diseases
Blepharoptosis
Flatfoot

Characterization of two novel intronic variants affecting splicing in FBN1-related disorders

Fusco, C., Morlino, S., Micale, L., Ferraris, A., Grammatico, P. & Castori, M., Jun 1 2019, In : Genes. 10, 6, 442.

Research output: Contribution to journalArticle

Open Access
Marfan Syndrome
Ectopia Lentis
Aortic Diseases
Nonsense Codon
Computer Simulation
Molecular Pathology
Workflow
Blood Vessels
Databases
Genetic Association Studies