• 16 Citations
  • 2 h-Index
20172018
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Fingerprint Dive into the research topics where Mafalda Giovanna Reccia is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 1 Similar Profiles
Prolyl Hydroxylases Medicine & Life Sciences
Asparagine Medicine & Life Sciences
Myopia Medicine & Life Sciences
Hydroxylation Medicine & Life Sciences
Glycosylation Medicine & Life Sciences
Mutation Medicine & Life Sciences
Genes Medicine & Life Sciences
Extracellular Matrix Medicine & Life Sciences

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Research Output 2017 2018

  • 16 Citations
  • 2 h-Index
  • 3 Article
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
2 Citations (Scopus)

Dysregulation of the Expression of Asparagine-Linked Glycosylation 13 Short Isoform 2 Affects Nephrin Function by Altering Its N-Linked Glycosylation

Esposito, T., De Stefano, G., Reccia, M. G., Di Lorenzo, I., Napolitano, F., Scalabrì, F., Lombardi, A., Saleem, M. A., Griffiths, L. R. & Gianfrancesco, F., May 1 2017, In : Nephron. 136, 2, p. 143-150 8 p.

Research output: Contribution to journalArticle

Asparagine
Glycosylation
Protein Isoforms
Podocytes
Calreticulin
11 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