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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.

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

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Research Output 2017 2019

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

Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology

Ritelli, M., Rovati, C., Venturini, M., Chiarelli, N., Cinquina, V., Castori, M. & Colombi, M., Jan 1 2019, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

Ehlers-Danlos Syndrome
Blood Vessels
Genetic Testing
Life Expectancy
Connective Tissue
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

COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap

Morlino, S., Micale, L., Ritelli, M., Rohrbach, M., Zoppi, N., Vandersteen, A., Mackay, S., Agolini, E., Cocciadiferro, D., Sasaki, E., Madeo, A., Ferraris, A., Reardon, W., Di Rocco, M., Novelli, A., Grammatico, P., Malfait, F., Mazza, T., Hakim, A., Giunta, C. & 2 others, Colombi, M. & Castori, M., Jan 1 2019, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

Ehlers-Danlos Syndrome
Osteogenesis Imperfecta
Connective Tissue
Procollagen N-Endopeptidase
Phenotype