Concepedia

Alessandra Pangrazio

AP

22

Publications

1.9K

Citations

19

H-Index

2000

Active since

Affiliations

Institute of Genetic and Biomedical Research(Current)

Institute of Biomedical Technologies

National Research Council

Humanitas University

IRCCS Humanitas Research Hospital

Alessandra Pangrazio is an author at Institute of Genetic and Biomedical Research specializing in medicine, genetics, and pathology.

Top concepts

Publications per year

2000–2015

22

Publications

22

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

Cristina Sobacchi, Annalisa Frattini, Matteo M. Guerrini et al. · Nature Genetics · 2007 · 378 citations

, , +9

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 · 299 citations · Full text

, , +5

Chloride Channel <i>ClCN7</i> Mutations Are Responsible for Severe Recessive, Dominant, and Intermediate Osteopetrosis

Annalisa Frattini, Alessandra Pangrazio, S. P. Lucia et al. · Journal of Bone and Mineral Research · 2003 · 224 citations · Full text

Mutations in <i>OSTM1</i> (Grey Lethal) Define a Particularly Severe Form of Autosomal Recessive Osteopetrosis With Neural Involvement

Alessandra Pangrazio, Pietro Luigi Poliani, André Mégarbané et al. · Journal of Bone and Mineral Research · 2006 · 109 citations

, , +18

TCIRG1-dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, andin vitro rescue by U1 snRNA

S. P. Lucia, Alessandra Pangrazio, Cristina Sobacchi et al. · Human Mutation · 2004 · 92 citations

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