Gianfranco Sebastio
University of Naples Federico II(IT)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Amino Acid Enzymes and Metabolism, Folate and B Vitamins Research, Epigenetics and DNA Methylation, Prenatal Screening and Diagnostics
Most-Cited Works
- → Localization of the X inactivation centre on the human X chromosome in Xq13(1991)382 cited
- → Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome(2005)303 cited
- → Cystathionine ?-synthase mutations in homocystinuria(1999)279 cited
- → SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance(1999)265 cited
- → The human urokinase-plasminogen activator gene and its promoter(1985)208 cited
- The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.(1995)
- → Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis.(1987)144 cited