Annalisa Frattini
Institute of Genetic and Biomedical Research(IT)
Publications by Year
Research Areas
Bone Metabolism and Diseases, Bone health and treatments, Blood disorders and treatments, Immunodeficiency and Autoimmune Disorders, Genomics and Chromatin Dynamics
Most-Cited Works
- → Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)(1995)884 cited
- → Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis(2000)675 cited
- → Partial V(D)J Recombination Activity Leads to Omenn Syndrome(1998)460 cited
- → Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL(2007)383 cited
- → Human Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia due to TNFRSF11A (RANK) Mutations(2008)304 cited
- → Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human(2003)267 cited
- → Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans