Research Output per year
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.
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
Network
Recent external collaboration on country level. Dive into details by clicking on the dots.
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 journal › Article
MAP Kinase Signaling System
Fibroblast Growth Factor 2
Holoprosencephaly
Exome
Autophagy
1
Citation
(Scopus)
Cardiac valvular Ehlers-Danlos syndrome is a well-defined condition due to recessive null variants in COL1A2
Guarnieri, V., Morlino, S., Di Stolfo, G., Mastroianno, S., Mazza, T. & Castori, M., Jan 1 2019, In : American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Article
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 journal › Article
Open Access
Marfan Syndrome
Ectopia Lentis
Aortic Diseases
Nonsense Codon
Computer Simulation
LTBP2-related “Marfan-like” phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant
Morlino, S., Alesi, V., Calì, F., Lepri, F. R., Secinaro, A., Grammatico, P., Novelli, A., Drago, F., Castori, M. & Baban, A., 2019, In : American Journal of Medical Genetics, Part A. 179, 1, p. 104-112 9 p.Research output: Contribution to journal › Article
1
Citation
(Scopus)
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: Insights into molecular properties of selected exostosin variants
Fusco, C., Nardella, G., Fischetto, R., Copetti, M., Petracca, A., Annunziata, F., Augello, B., D'Asdia, M. C., Petrucci, S., Mattina, T., Rella, A., Cassina, M., Bengala, M., Biagini, T., Causio, F. A., Caldarini, C., Brancati, F., De Luca, A., Guarnieri, V., Micale, L. & 2 others, , Jul 1 2019, In : Human Molecular Genetics. 28, 13, p. 2133-2142 10 p.Research output: Contribution to journal › Article
Multiple Hereditary Exostoses
Genetic Association Studies
Osteochondroma
Cell Cycle Proteins
Heparitin Sulfate