• 15 Citations
  • 2 h-Index
20172019
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Fingerprint Dive into the research topics where Alfonsina Tirozzi is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 2 Similar Profiles
Exome Medicine & Life Sciences
Prolyl Hydroxylases Medicine & Life Sciences
Extracellular Matrix Medicine & Life Sciences
Myopia Medicine & Life Sciences
Hydroxylation Medicine & Life Sciences
Genes Medicine & Life Sciences
Italy Medicine & Life Sciences
Mutation Medicine & Life Sciences

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Research Output 2017 2019

  • 15 Citations
  • 2 h-Index
  • 3 Article

Whole-Exome Sequencing in the Isolated Populations of Cilento from South Italy

Nutile, T., Ruggiero, D., Herzig, A. F., Tirozzi, A., Nappo, S., Sorice, R., Marangio, F., Bellenguez, C., Leutenegger, A. L. & Ciullo, M., Mar 11 2019, In : Scientific Reports. 9, 1, p. 4059

Research output: Contribution to journalArticle

Exome
Italy
Population Genetics
Gene Frequency
Population
3 Citations (Scopus)

Autosomal-dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation

Napolitano, F., Di Iorio, V., Testa, F., Tirozzi, A., Reccia, M. G., Lombardi, L., Farina, O., Simonelli, F., Gianfrancesco, F., Di Iorio, G., Melone, M. A. B., Esposito, T. & Sampaolo, S., May 1 2018, In : Clinical Genetics. 93, 5, p. 982-991 10 p.

Research output: Contribution to journalArticle

Prolyl Hydroxylases
Myopia
Hydroxylation
Collagen
Peptides
12 Citations (Scopus)

Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix

Sampaolo, S., Napolitano, F., Tirozzi, A., Reccia, M. G., Lombardi, L., Farina, O., Barra, A., Cirillo, F., Melone, M. A. B., Gianfrancesco, F., Iorio, G. D. & Esposito, T., Oct 2017, In : Journal of Medical Genetics. 54, 10, p. 710-720 11 p.

Research output: Contribution to journalArticle

Extracellular Matrix
Mutation
Genes
Skin
Night Blindness