• 21 Citations
  • 2 h-Index
20152017
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Fingerprint Dive into the research topics where Tiziana Fioretti is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

Lamellar Ichthyosis Medicine & Life Sciences
Bardet-Biedl Syndrome Medicine & Life Sciences
Formyl Peptide Receptor Chemical Compounds
Arthrogryposis Medicine & Life Sciences
G-Protein-Coupled Receptors Medicine & Life Sciences
Introns Medicine & Life Sciences
Exons Medicine & Life Sciences
Dystrophin Medicine & Life Sciences

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Research Output 2015 2017

  • 21 Citations
  • 2 h-Index
  • 4 Article
  • 1 Letter
7 Citations (Scopus)

Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: Identification of eleven novel pathogenic sequence variants

Esposito, G., Testa, F., Zacchia, M., Crispo, A. A., Di Iorio, V., Capolongo, G., Rinaldi, L., D'Antonio, M., Fioretti, T., Iadicicco, P., Rossi, S., Franzè, A., Marciano, E., Capasso, G., Simonelli, F. & Salvatore, F., Feb 1 2017, In : BMC Medical Genetics. 18, 1, 10.

Research output: Contribution to journalArticle

Bardet-Biedl Syndrome
Phenotype
Kidney
Outer Auditory Hair Cells
Genes
2 Citations (Scopus)

Precise mapping of 17 deletion breakpoints within the central hotspot deletion region (introns 50 and 51) of the DMD gene

Esposito, G., Tremolaterra, M. R., Marsocci, E., Tandurella, I. C., Fioretti, T., Savarese, M. & Carsana, A., Dec 1 2017, In : Journal of Human Genetics. 62, 12, p. 1057-1063 7 p.

Research output: Contribution to journalArticle

Introns
Exons
Dystrophin
Genes
Duchenne Muscular Dystrophy
10 Citations (Scopus)

Nuclear localization of Formyl-Peptide Receptor 2 in human cancer cells

Cattaneo, F., Parisi, M., Fioretti, T., Sarnataro, D., Esposito, G. & Ammendola, R., Aug 1 2016, In : Archives of Biochemistry and Biophysics. 603, p. 10-19 10 p.

Research output: Contribution to journalArticle

Formyl Peptide Receptor
G-Protein-Coupled Receptors
Cells
Fluorescent Antibody Technique
Western Blotting
2 Citations (Scopus)

SLC26A4 genotypes associated with enlarged vestibular aqueduct malformation in south Italian children with sensorineural hearing loss

Franzè, A., Esposito, G., Di Domenico, C., Iossa, S., Sauchelli, G., Fioretti, T., Cavaliere, M., Auletta, G., Corvino, V., Laria, C., Malesci, R., Marciano, E. & Salvatore, F., Sep 1 2016, In : Clinical Chemistry and Laboratory Medicine. 54, 9, p. e259-e263

Research output: Contribution to journalLetter

Lamellar ichthyosis and arthrogryposis in a premature neonate

De Leonibus, C., Lembo, C., Santantonio, A., Fioretti, T., Rojo, S., Salvatore, F., Devivo, M., Esposito, G. & Giliberti, P., Jun 30 2015, In : Journal of Dermatological Case Reports. 9, 2, p. 49-51 3 p.

Research output: Contribution to journalArticle

Lamellar Ichthyosis
Arthrogryposis
Newborn Infant
Early Diagnosis
Ectropion