Paolo Vezzoni

Overview

Best Publications

• 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;Silvia Giliani

  827
  Citations

• X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

  Antonio Musio;Angelo Selicorni;Maria Luisa Focarelli;Cristina Gervasini

  612
  Citations

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

  Anna Villa;Sandro Santagata;Fabio Bozzi;Silvia Giliani

  503
  Citations

• Iron, neuromelanin and ferritin content in the substantia nigra of normal subjects at different ages: consequences for iron storage and neurodegenerative processes.

  Luigi Zecca;Mario Gallorini;Volker Schünemann;Alfred X. Trautwein

  483
  Citations

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

  Cristina Sobacchi;Annalisa Frattini;Matteo M Guerrini;Mario Abinun

  447
  Citations

• V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.

  Anna Villa;Cristina Sobacchi;Luigi D. Notarangelo;Fabio Bozzi

  406
  Citations

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

  Matteo M. Guerrini;Cristina Sobacchi;Barbara Cassani;Mario Abinun

  335
  Citations

• X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.

  Villa A;Notarangelo L;Macchi P;Mantuano E

  321
  Citations

• Chloride Channel ClCN7 Mutations Are Responsible for Severe Recessive, Dominant, and Intermediate Osteopetrosis

  Annalisa Frattini;Alessandra Pangrazio;Lucia Susani;Cristina Sobacchi

  275
  Citations

• The mutational spectrum of human malignant autosomal recessive osteopetrosis

  Cristina Sobacchi;Annalisa Frattini;Paul J Orchard;Oscar Porras

  254
  Citations

• Physiologic oxygen enhances human embryonic stem cell clonal recovery and reduces chromosomal abnormalities.

  Nicholas R. Forsyth;Antonio Musio;Paolo Vezzoni;A. Hamish R.W. Simpson

  243
  Citations

• Structural and functional basis for JAK3-deficient severe combined immunodeficiency.

  Fabio Candotti;Scott A. Oakes;James A. Johnston;Silvia Giliani

  216
  Citations

• RAG-dependent primary immunodeficiencies.

  Cristina Sobacchi;Veronica Marrella;Francesca Rucci;Paolo Vezzoni

  183
  Citations

• Early and multifocal tumors in breast, salivary, harderian and epididymal tissues developed in MMTY-Neu transgenic mice.

  Franco Lucchini;Maria Grazia Sacco;Nanpin Hu;Anna Villa

  178
  Citations

• Reticulohistiocytoma of the dorsum

  Emilio Berti;Elvio Alessi;Ruggero Caputo;Raffaele Gianotti

  170
  Citations

• Molecular cloning of ILP-2, a novel member of the inhibitor of apoptosis protein family.

  Bettina W. M. Richter;Samy S. Mir;Lisa J. Eiben;Jennifer Lewis

  161
  Citations

• Gene expression profiles of epithelial cells microscopically isolated from a breast-invasive ductal carcinoma and a nodal metastasis

  I. Zucchi;E. Mento;V. A. Kuznetsov;M. Scotti

  141
  Citations

• Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA

  Ekaterina Revenkova;Maria Luisa Focarelli;Lucia Susani;Marianna Paulis

  132
  Citations

• Genotype-Phenotype Relationship in Human ATP6i-Dependent Autosomal Recessive Osteopetrosis

  Anna Taranta;Silvia Migliaccio;Silvia Migliaccio;Irene Recchia;Maurizio Caniglia

  130
  Citations

• Primary immunodeficiency mutation databases

  Mauno Vihinen;FX Arredondo-Vega;JL Casanova;A Etzioni

  128
  Citations