If you made any changes in Pure these will be visible here soon.

Fingerprint Dive into the research topics where Giuseppe Santamaria is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 5 Similar Profiles
Cryopyrin-Associated Periodic Syndromes Medicine & Life Sciences
Mosaicism Medicine & Life Sciences
Comparative Genomic Hybridization Medicine & Life Sciences
Hirschsprung Disease Medicine & Life Sciences
Genetic Heterogeneity Medicine & Life Sciences
Maxillary Sinus Medicine & Life Sciences
Mutation Medicine & Life Sciences
DNA Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output 2017 2019

Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease

Lantieri, F., Gimelli, S., Viaggi, C., Stathaki, E., Malacarne, M., Santamaria, G., Grossi, A., Mosconi, M., Sloan-Béna, F., Prato, A. P., Coviello, D. & Ceccherini, I., Nov 25 2019, In : Orphanet Journal of Rare Diseases. 14, 1, p. 270

Research output: Contribution to journalArticle

Hirschsprung Disease
Genetic Heterogeneity
Enteric Nervous System
Genes
Mothers

Ectopic teeth in the maxillary sinus: A case report and literature review

Lombroni, L., Farronato, G., Santamaria, G., Lombroni, D., Gatti, P. & Capelli, M., Sep 1 2018, In : Indian Journal of Dental Research. 29, 5, p. 667-671 5 p.

Research output: Contribution to journalArticle

Maxillary Sinus
Tooth
Ectopic Tooth Eruption
Dentigerous Cyst
Mandibular Condyle

Ectopic teeth in the maxillary sinus: A case report and literature review

Lombroni, L., Farronato, G., Santamaria, G., Lombroni, D., Gatti, P. & Capelli, M., 2018, In : Indian Journal of Dental Research. 29, 5, p. 667-671 5 p.

Research output: Contribution to journalArticle

Cryopyrin-associated periodic syndromes in Italian Patients: Evaluation of the rate of somatic NLRP3 mosaicism and phenotypic characterization

Lasigliè, D., Mensa-Vilaro, A., Ferrera, D., Caorsi, R., Penco, F., Santamaria, G., Di Duca, M., Amico, G., Nakagawa, K., Antonini, F., Tommasini, A., Consolini, R., Insalaco, A., Cattalini, M., Obici, L., Gallizzi, R., Santarelli, F., Del Zotto, G., Severino, M., Rubartelli, A. & 7 others, Ravazzolo, R., Martini, A., Ceccherini, I., Nishikomori, R., Gattorno, M., Arostegui, J. I. & Borghini, S., Nov 1 2017, In : Journal of Rheumatology. 44, 11, p. 1667-1673 7 p.

Research output: Contribution to journalArticle

Cryopyrin-Associated Periodic Syndromes
Mosaicism
Mutation
High-Throughput Nucleotide Sequencing
Rheumatology

Cryopyrin-associated Periodic Syndromes in Italian Patients

Lasigliè, D., Mensa-Vilaro, A., Ferrera, D., Caorsi, R., Penco, F., Santamaria, G., Di Duca, M., Amico, G., Nakagawa, K., Antonini, F., Tommasini, A., Consolini, R., Insalaco, A., Cattalini, M., Obici, L., Gallizzi, R., Santarelli, F., Del Zotto, G., Severino, M., Rubartelli, A. & 7 others, Ravazzolo, R., Martini, A., Ceccherini, I., Nishikomori, R., Gattorno, M., Arostegui, J. I. & Borghini, S., Nov 2017, In : Journal of Rheumatology. 44, 11, p. 1667-1673 7 p.

Research output: Contribution to journalArticle

Cryopyrin-Associated Periodic Syndromes
Mosaicism
Mutation
High-Throughput Nucleotide Sequencing
Neurologic Manifestations