Concepedia

Annalisa Frattini

AF

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Publications

57

Citations

5.6K

H-Index

31

Active since

1992

Affiliations

Institute of Biomedical Technologies(Current)

Tecnologie Avanzate (Italy)

University of Insubria

National Research Council

Institute of Genetic and Biomedical Research

Annalisa Frattini is an author at Institute of Biomedical Technologies specializing in genetics, molecular genetics, and life sciences.

ORCID

Publications per year

1992–2023

57

Publications

57

Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)

Paolo Macchi, Anna Villa, Silvia Giliani et al. · Nature · 1995 · 885 citations

, , +13

Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis

Annalisa Frattini, Paul J. Orchard, Cristina Sobacchi et al. · Nature Genetics · 2000 · 676 citations

, , +6

Partial V(D)J Recombination Activity Leads to Omenn Syndrome

Anna Villa, Sandro Santagata, Fabio Bozzi et al. · Cell · 1998 · 462 citations · Full text

, , +11

Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL

Cristina Sobacchi, Annalisa Frattini, Matteo M. Guerrini et al. · Nature Genetics · 2007 · 387 citations

, , +12

Human Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia due to TNFRSF11A (RANK) Mutations

Matteo M. Guerrini, Cristina Sobacchi, Barbara Cassani et al. · The American Journal of Human Genetics · 2008 · 307 citations · Full text

, , +11

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