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

  • 7 Similar Profiles
Phenotype Medicine & Life Sciences
Beckwith-Wiedemann Syndrome Medicine & Life Sciences
Uniparental Disomy Medicine & Life Sciences
Cerebellar Ataxia Medicine & Life Sciences
Fructose Intolerance Medicine & Life Sciences
Multiplex Polymerase Chain Reaction Medicine & Life Sciences
Homozygote Medicine & Life Sciences
Ataxia Medicine & Life Sciences

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Research Output 2017 2019

Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification

Giorgio, E., Garelli, E., Carando, A., Bellora, S., Rubino, E., Quarello, P., Sirchia, F., Marrama, F., Gallone, S., Grosso, E., Pasini, B., Massa, R., Brussino, A. & Brusco, A., Nov 1 2019, In : Journal of Human Genetics. 64, 11, p. 1083-1090 8 p.

Research output: Contribution to journalArticle

Multiplex Polymerase Chain Reaction
Brain
Exons
Point Mutation
Dominant Genes

Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome

Gazzin, A., Carli, D., Sirchia, F., Molinatto, C., Cardaropoli, S., Palumbo, G., Zampino, G., Ferrero, G. B. & Mussa, A., Sep 2019, In : American journal of medical genetics. Part A. 179, 9, p. 1691-1702 12 p.

Research output: Contribution to journalArticle

Beckwith-Wiedemann Syndrome
Phenotype
Health
Sertoli Cell Tumor
Macroglossia

Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome

Gazzin, A., Carli, D., Sirchia, F., Molinatto, C., Cardaropoli, S., Palumbo, G., Zampino, G., Ferrero, G. B. & Mussa, A., 2019, In : American Journal of Medical Genetics, Part A. 179, 9, p. 1691-1702 12 p.

Research output: Contribution to journalArticle

Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy

Mancini, C., Giorgio, E., Rubegni, A., Pradotto, L., Bagnoli, S., Rubino, E., Prontera, P., Cavalieri, S., Di Gregorio, E., Ferrero, M., Pozzi, E., Riberi, E., Ferrero, P., Nigro, P., Mauro, A., Zibetti, M., Tessa, A., Barghigiani, M., Antenora, A., Sirchia, F. & 7 others, Piacentini, S., Silvestri, G., De Michele, G., Filla, A., Orsi, L., Santorelli, F. M. & Brusco, A., Jan 2019, In : European Journal of Neurology. 26, 1, p. 80-86 7 p.

Research output: Contribution to journalArticle

Cerebellar Ataxia
Homozygote
Ataxia
Heterozygote
Italy

Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency

Valencic, E., Piscianz, E., Sirchia, F., Tommasini, A., Faletra, F., Todaro, F., Spinelli, A. M. & Badolato, R., Oct 2019, In : Immunology Letters. 214, p. 52-54 3 p.

Research output: Contribution to journalLetter